Term Identifier Term NameAbnormality of the skeletal system

Abnormality of the skele HP:0010704 1-2 finger syndactylyAbnormality of the skele HP:0005767 1-2 toe complete cutaneous syndactylyAbnormality of the skele HP:0010711 1-2 toe syndactylyAbnormality of the skele HP:0010706 1-3 finger syndactylyAbnormality of the skele HP:0001459 1-3 toe syndactylyAbnormality of the skele HP:0010707 1-4 finger syndactylyAbnormality of the skele HP:0010712 1-4 toe syndactylyAbnormality of the skele HP:0006088 1-5 finger complete cutaneous syndactylyAbnormality of the skele HP:0010708 1-5 finger syndactylyAbnormality of the skele HP:0010713 1-5 toe syndactylyAbnormality of the skele HP:0000878 11 pairs of ribsAbnormality of the skele HP:0001233 2-3 finger syndactylyAbnormality of the skele HP:0005709 2-3 toe cutaneous syndactylyAbnormality of the skele HP:0004691 2-3 toe syndactylyAbnormality of the skele HP:0010709 2-4 finger syndactylyAbnormality of the skele HP:0005768 2-4 toe cutaneous syndactylyAbnormality of the skele HP:0010714 2-4 toe syndactylyAbnormality of the skele HP:0010692 2-5 finger syndactylyAbnormality of the skele HP:0010715 2-5 toe syndactylyAbnormality of the skele HP:0008083 2nd-5th toe middle phalangeal hypoplasiaAbnormality of the skele HP:0011939 3-4 finger cutaneous syndactylyAbnormality of the skele HP:0006097 3-4 finger syndactylyAbnormality of the skele HP:0009779 3-4 toe syndactylyAbnormality of the skele HP:0010710 3-5 finger syndactylyAbnormality of the skele HP:0010716 3-5 toe syndactylyAbnormality of the skele HP:0010705 4-5 finger syndactylyAbnormality of the skele HP:0004692 4-5 toe syndactylyAbnormality of the skele HP:0001501 6 metacarpalsAbnormality of the skele HP:0011844 Abnormal appendicular skeleton morphologyAbnormality of the skele HP:0012769 Abnormal arm spanAbnormality of the skele HP:0009121 Abnormal axial skeleton morphologyAbnormality of the skele HP:0011862 Abnormal bone collagen fibril morphologyAbnormality of the skele HP:0011849 Abnormal bone ossificationAbnormality of the skele HP:0003330 Abnormal bone structureAbnormality of the skele HP:0009164 Abnormal calcification of the carpal bonesAbnormality of the skele HP:0008271 Abnormal cartilage collagenAbnormality of the skele HP:0008178 Abnormal cartilage matrixAbnormality of the skele HP:0002763 Abnormal cartilage morphologyAbnormality of the skele HP:0005905 Abnormal cervical curvatureAbnormality of the skele HP:0003103 Abnormal cortical bone morphologyAbnormality of the skele HP:0000940 Abnormal diaphysis morphologyAbnormality of the skele HP:0003336 Abnormal enchondral ossificationAbnormality of the skele HP:0010656 Abnormal epiphyseal ossificationAbnormality of the skele HP:0005259 Abnormal facility in opposing the shouldersAbnormality of the skele HP:0006143 Abnormal finger flexion creasesAbnormality of the skele HP:0010675 Abnormal foot bone ossificationAbnormality of the skele HP:0003312 Abnormal form of the vertebral bodiesAbnormality of the skele HP:0010660 Abnormal hand bone ossification

Abnormality of the skele HP:0005922 Abnormal hand morphologyAbnormality of the skele HP:0012791 Abnormal humeral ossificationAbnormality of the skele HP:0012790 Abnormal intramembranous ossificationAbnormality of the skele HP:0001367 Abnormal joint morphologyAbnormality of the skele HP:0005916 Abnormal metacarpal morphologyAbnormality of the skele HP:0005089 Abnormal metaphyseal trabeculationAbnormality of the skele HP:0003562 Abnormal metaphyseal vascular invasionAbnormality of the skele HP:0008371 Abnormal metatarsal ossificationAbnormality of the skele HP:0009107 Abnormal ossification involving the femoral head and neckAbnormality of the skele HP:0005921 Abnormal ossification of hand bonesAbnormality of the skele HP:0009105 Abnormal ossification of the pubic boneAbnormality of the skele HP:0007608 Abnormal palmar dermal ridgesAbnormality of the skele HP:0001018 Abnormal palmar dermatoglyphicsAbnormality of the skele HP:0009106 Abnormal pelvis bone ossificationAbnormality of the skele HP:0012306 Abnormal rib ossificationAbnormality of the skele HP:0008468 Abnormal sacral segmentationAbnormality of the skele HP:0011863 Abnormal sternal ossificationAbnormality of the skele HP:0009132 Abnormal tarsal bone mineral densityAbnormality of the skele HP:0008369 Abnormal tarsal ossificationAbnormality of the skele HP:0100261 Abnormal tendon morphologyAbnormality of the skele HP:0100671 Abnormal trabecular bone morphologyAbnormality of the skele HP:0100569 Abnormal vertebral ossificationAbnormality of the skele HP:0005640 Abnormal vertebral segmentation and fusionAbnormality of the skele HP:0005926 Abnormalities of the cortex of hand bonesAbnormality of the skele HP:0005925 Abnormalities of the diaphyses of the handAbnormality of the skele HP:0005923 Abnormalities of the metaphyses of the handAbnormality of the skele HP:0006505 Abnormality involving the epiphyses of the limbsAbnormality of the skele HP:0006500 Abnormality involving the epiphyses of the lower limbsAbnormality of the skele HP:0003839 Abnormality involving the epiphyses of the upper limbsAbnormality of the skele HP:0004348 Abnormality of bone mineral densityAbnormality of the skele HP:0006257 Abnormality of carpal bone ossificationAbnormality of the skele HP:0011297 Abnormality of digitAbnormality of the skele HP:0100270 Abnormality of dorsoventral patterning of the lAbnormality of the skele HP:0006499 Abnormality of femoral epiphysesAbnormality of the skele HP:0010593 Abnormality of fibular epiphysesAbnormality of the skele HP:0001167 Abnormality of fingerAbnormality of the skele HP:0006256 Abnormality of hand joint mobilityAbnormality of the skele HP:0011729 Abnormality of joint mobilityAbnormality of the skele HP:0002813 Abnormality of limb bone morphologyAbnormality of the skele HP:0011314 Abnormality of long bone morphologyAbnormality of the skele HP:0006490 Abnormality of lower-limb metaphysesAbnormality of the skele HP:0005913 Abnormality of metacarpal epiphysesAbnormality of the skele HP:0011911 Abnormality of metacarpophalangeal jointAbnormality of the skele HP:0010630 Abnormality of metatarsal epiphysisAbnormality of the skele HP:0002644 Abnormality of pelvic girdle bone morphologyAbnormality of the skele HP:0006261 Abnormality of phalangeal joints of the handAbnormality of the skele HP:0005918 Abnormality of phalanx of fingerAbnormality of the skele HP:0010324 Abnormality of phalanx of the 2nd toeAbnormality of the skele HP:0004027 Abnormality of radial diaphysisAbnormality of the skele HP:0003999 Abnormality of radial epiphyses

Abnormality of the skele HP:0004015 Abnormality of radial metaphysesAbnormality of the skele HP:0000927 Abnormality of skeletal maturationAbnormality of the skele HP:0011842 Abnormality of skeletal morphologyAbnormality of the skele HP:0011843 Abnormality of skeletal physiologyAbnormality of the skele HP:0010009 Abnormality of the 1st metacarpalAbnormality of the skele HP:0004100 Abnormality of the 2nd fingerAbnormality of the skele HP:0010010 Abnormality of the 2nd metacarpalAbnormality of the skele HP:0010319 Abnormality of the 2nd toeAbnormality of the skele HP:0004150 Abnormality of the 3rd fingerAbnormality of the skele HP:0010011 Abnormality of the 3rd metacarpalAbnormality of the skele HP:0010320 Abnormality of the 3rd toeAbnormality of the skele HP:0004188 Abnormality of the 4th fingerAbnormality of the skele HP:0010012 Abnormality of the 4th metacarpalAbnormality of the skele HP:0010321 Abnormality of the 4th toeAbnormality of the skele HP:0004207 Abnormality of the 5th fingerAbnormality of the skele HP:0010013 Abnormality of the 5th metacarpalAbnormality of the skele HP:0010322 Abnormality of the 5th toeAbnormality of the skele HP:0005109 Abnormality of the Achilles tendonAbnormality of the skele HP:0003170 Abnormality of the acetabulumAbnormality of the skele HP:0003028 Abnormality of the anklesAbnormality of the skele HP:0008364 Abnormality of the calcaneusAbnormality of the skele HP:0002981 Abnormality of the calfAbnormality of the skele HP:0001430 Abnormality of the calf musculatureAbnormality of the skele HP:0004262 Abnormality of the capitate boneAbnormality of the skele HP:0001191 Abnormality of the carpal bonesAbnormality of the skele HP:0003319 Abnormality of the cervical spineAbnormality of the skele HP:0000889 Abnormality of the claviclesAbnormality of the skele HP:0008519 Abnormality of the coccyxAbnormality of the skele HP:0010629 Abnormality of the cortex of the humerusAbnormality of the skele HP:0000919 Abnormality of the costochondral junctionAbnormality of the skele HP:0010674 Abnormality of the curvature of the vertebral cAbnormality of the skele HP:0003889 Abnormality of the deltoid tuberositiesAbnormality of the skele HP:0010590 Abnormality of the distal femoral epiphysisAbnormality of the skele HP:0010595 Abnormality of the distal fibular epiphysisAbnormality of the skele HP:0010599 Abnormality of the distal humeral epiphysisAbnormality of the skele HP:0010182 Abnormality of the distal phalanges of the toesAbnormality of the skele HP:0009832 Abnormality of the distal phalanx of fingerAbnormality of the skele HP:0009542 Abnormality of the distal phalanx of the 2nd fingerAbnormality of the skele HP:0010356 Abnormality of the distal phalanx of the 2nd toeAbnormality of the skele HP:0009357 Abnormality of the distal phalanx of the 3rd fingerAbnormality of the skele HP:0010368 Abnormality of the distal phalanx of the 3rd toeAbnormality of the skele HP:0009282 Abnormality of the distal phalanx of the 4th fingerAbnormality of the skele HP:0010380 Abnormality of the distal phalanx of the 4th toeAbnormality of the skele HP:0004225 Abnormality of the distal phalanx of the 5th fingAbnormality of the skele HP:0010392 Abnormality of the distal phalanx of the 5th toeAbnormality of the skele HP:0010053 Abnormality of the distal phalanx of the halluxAbnormality of the skele HP:0009617 Abnormality of the distal phalanx of the thumbAbnormality of the skele HP:0010597 Abnormality of the distal radial epiphysisAbnormality of the skele HP:0010592 Abnormality of the distal tibial epiphysisAbnormality of the skele HP:0010600 Abnormality of the distal ulnar epiphysis

Abnormality of the skele HP:0009811 Abnormality of the elbowAbnormality of the skele HP:0003949 Abnormality of the elbow metaphysesAbnormality of the skele HP:0005930 Abnormality of the epiphysesAbnormality of the skele HP:0006263 Abnormality of the epiphyses of the 2nd fingerAbnormality of the skele HP:0010323 Abnormality of the epiphyses of the 2nd toeAbnormality of the skele HP:0009320 Abnormality of the epiphyses of the 3rd fingerAbnormality of the skele HP:0010329 Abnormality of the epiphyses of the 3rd toeAbnormality of the skele HP:0009174 Abnormality of the epiphyses of the 4th fingerAbnormality of the skele HP:0010335 Abnormality of the epiphyses of the 4th toeAbnormality of the skele HP:0009152 Abnormality of the epiphyses of the 5th fingerAbnormality of the skele HP:0010341 Abnormality of the epiphyses of the 5th toeAbnormality of the skele HP:0010243 Abnormality of the epiphyses of the distal phalaAbnormality of the skele HP:0003946 Abnormality of the epiphyses of the elbowAbnormality of the skele HP:0010631 Abnormality of the epiphyses of the feetAbnormality of the skele HP:0010056 Abnormality of the epiphyses of the halluxAbnormality of the skele HP:0005924 Abnormality of the epiphyses of the handAbnormality of the skele HP:0010244 Abnormality of the epiphyses of the middle phalanges of the handAbnormality of the skele HP:0005920 Abnormality of the epiphyses of the phalanges Abnormality of the skele HP:0010245 Abnormality of the epiphyses of the proximal phalanges of the handAbnormality of the skele HP:0010160 Abnormality of the epiphyses of the toesAbnormality of the skele HP:0010014 Abnormality of the epiphysis of the 1st metacarAbnormality of the skele HP:0010125 Abnormality of the epiphysis of the 1st metatarsAbnormality of the skele HP:0010220 Abnormality of the epiphysis of the 2nd metacaAbnormality of the skele HP:0010222 Abnormality of the epiphysis of the 3rd metacarAbnormality of the skele HP:0010224 Abnormality of the epiphysis of the 4th metacarAbnormality of the skele HP:0010226 Abnormality of the epiphysis of the 5th metacarAbnormality of the skele HP:0009499 Abnormality of the epiphysis of the distal phalanx of the 2nd fingerAbnormality of the skele HP:0100088 Abnormality of the epiphysis of the distal phalanx of the 2nd toeAbnormality of the skele HP:0009332 Abnormality of the epiphysis of the distal phalanx of the 3rd fingerAbnormality of the skele HP:0100091 Abnormality of the epiphysis of the distal phalanx of the 3rd toeAbnormality of the skele HP:0009249 Abnormality of the epiphysis of the distal phalanx of the 4th fingerAbnormality of the skele HP:0100094 Abnormality of the epiphysis of the distal phalanx of the 4th toeAbnormality of the skele HP:0009198 Abnormality of the epiphysis of the distal phalanAbnormality of the skele HP:0100097 Abnormality of the epiphysis of the distal phalanx of the 5th toeAbnormality of the skele HP:0010124 Abnormality of the epiphysis of the distal phalanx of the halluxAbnormality of the skele HP:0009662 Abnormality of the epiphysis of the distal phalaAbnormality of the skele HP:0010574 Abnormality of the epiphysis of the femoral heaAbnormality of the skele HP:0009500 Abnormality of the epiphysis of the middle phalanx of the 2nd fingerAbnormality of the skele HP:0100089 Abnormality of the epiphysis of the middle phalanx of the 2nd toeAbnormality of the skele HP:0009334 Abnormality of the epiphysis of the middle phalanx of the 3rd fingerAbnormality of the skele HP:0100092 Abnormality of the epiphysis of the middle phalanx of the 3rd toeAbnormality of the skele HP:0009247 Abnormality of the epiphysis of the middle phalanx of the 4th fingerAbnormality of the skele HP:0100095 Abnormality of the epiphysis of the middle phalanx of the 4th toeAbnormality of the skele HP:0004224 Abnormality of the epiphysis of the middle phalaAbnormality of the skele HP:0100098 Abnormality of the epiphysis of the middle phalanx of the 5th toeAbnormality of the skele HP:0009501 Abnormality of the epiphysis of the proximal phalanx of the 2nd fingerAbnormality of the skele HP:0100090 Abnormality of the epiphysis of the proximal phalanx of the 2nd toeAbnormality of the skele HP:0009333 Abnormality of the epiphysis of the proximal phalanx of the 3rd fingerAbnormality of the skele HP:0100093 Abnormality of the epiphysis of the proximal phalanx of the 3rd toeAbnormality of the skele HP:0009248 Abnormality of the epiphysis of the proximal phalanx of the 4th finger

Abnormality of the skele HP:0100096 Abnormality of the epiphysis of the proximal phalanx of the 4th toeAbnormality of the skele HP:0009153 Abnormality of the epiphysis of the proximal phaAbnormality of the skele HP:0100099 Abnormality of the epiphysis of the proximal phalanx of the 5th toeAbnormality of the skele HP:0010126 Abnormality of the epiphysis of the proximal phaAbnormality of the skele HP:0009663 Abnormality of the epiphysis of the proximal phAbnormality of the skele HP:0003368 Abnormality of the femoral headAbnormality of the skele HP:0006489 Abnormality of the femoral metaphysisAbnormality of the skele HP:0003367 Abnormality of the femoral neckAbnormality of the skele HP:0003366 Abnormality of the femoral neck and head regionAbnormality of the skele HP:0002823 Abnormality of the femurAbnormality of the skele HP:0002991 Abnormality of the fibulaAbnormality of the skele HP:0008089 Abnormality of the fifth metatarsal boneAbnormality of the skele HP:0001211 Abnormality of the fingertipsAbnormality of the skele HP:0010054 Abnormality of the first metatarsalAbnormality of the skele HP:0001760 Abnormality of the footAbnormality of the skele HP:0001436 Abnormality of the foot musculatureAbnormality of the skele HP:0002973 Abnormality of the forearmAbnormality of the skele HP:0011912 Abnormality of the glenoid fossaAbnormality of the skele HP:0010456 Abnormality of the greater sacrosciatic notchAbnormality of the skele HP:0001844 Abnormality of the halluxAbnormality of the skele HP:0004259 Abnormality of the hamate boneAbnormality of the skele HP:0001155 Abnormality of the handAbnormality of the skele HP:0003272 Abnormality of the hip boneAbnormality of the skele HP:0001384 Abnormality of the hip jointAbnormality of the skele HP:0003926 Abnormality of the humeral diaphysisAbnormality of the skele HP:0003905 Abnormality of the humeral epiphyseal plateAbnormality of the skele HP:0003891 Abnormality of the humeral epiphysisAbnormality of the skele HP:0003887 Abnormality of the humeral headsAbnormality of the skele HP:0003907 Abnormality of the humeral metaphysesAbnormality of the skele HP:0100744 Abnormality of the humeroradial jointAbnormality of the skele HP:0100745 Abnormality of the humeroulnar jointAbnormality of the skele HP:0003063 Abnormality of the humerusAbnormality of the skele HP:0010486 Abnormality of the hypothenar eminenceAbnormality of the skele HP:0002867 Abnormality of the iliumAbnormality of the skele HP:0005108 Abnormality of the intervertebral diskAbnormality of the skele HP:0003174 Abnormality of the ischiumAbnormality of the skele HP:0003943 Abnormality of the joint spaces of the elbowAbnormality of the skele HP:0100491 Abnormality of the joints of the lower limbsAbnormality of the skele HP:0009810 Abnormality of the joints of the upper limbsAbnormality of the skele HP:0002815 Abnormality of the kneesAbnormality of the skele HP:0002814 Abnormality of the lower limbAbnormality of the skele HP:0100712 Abnormality of the lumbar spineAbnormality of the skele HP:0004248 Abnormality of the lunate boneAbnormality of the skele HP:0100253 Abnormality of the medullary cavity of the longAbnormality of the skele HP:0001163 Abnormality of the metacarpal bonesAbnormality of the skele HP:0000944 Abnormality of the metaphysesAbnormality of the skele HP:0001832 Abnormality of the metatarsal bonesAbnormality of the skele HP:0009833 Abnormality of the middle phalanges of the hanAbnormality of the skele HP:0010183 Abnormality of the middle phalanges of the toesAbnormality of the skele HP:0009543 Abnormality of the middle phalanx of the 2nd finger

Abnormality of the skele HP:0010357 Abnormality of the middle phalanx of the 2nd toeAbnormality of the skele HP:0004172 Abnormality of the middle phalanx of the 3rd fingerAbnormality of the skele HP:0010369 Abnormality of the middle phalanx of the 3rd toeAbnormality of the skele HP:0009283 Abnormality of the middle phalanx of the 4th fingerAbnormality of the skele HP:0010381 Abnormality of the middle phalanx of the 4th toeAbnormality of the skele HP:0004219 Abnormality of the middle phalanx of the 5th fingerAbnormality of the skele HP:0010393 Abnormality of the middle phalanx of the 5th toeAbnormality of the skele HP:0001421 Abnormality of the musculature of the handAbnormality of the skele HP:0009127 Abnormality of the musculature of the limbsAbnormality of the skele HP:0001437 Abnormality of the musculature of the lower limbsAbnormality of the skele HP:0001441 Abnormality of the musculature of the thighAbnormality of the skele HP:0001457 Abnormality of the musculature of the upper armAbnormality of the skele HP:0001446 Abnormality of the musculature of the upper limbsAbnormality of the skele HP:0003310 Abnormality of the odontoid processAbnormality of the skele HP:0004032 Abnormality of the olecranonAbnormality of the skele HP:0100339 Abnormality of the os naviculare pedisAbnormality of the skele HP:0100871 Abnormality of the palmAbnormality of the skele HP:0010490 Abnormality of the palmar creasesAbnormality of the skele HP:0003045 Abnormality of the patellaAbnormality of the skele HP:0009541 Abnormality of the phalanges of the 2nd fingerAbnormality of the skele HP:0009316 Abnormality of the phalanges of the 3rd fingerAbnormality of the skele HP:0010330 Abnormality of the phalanges of the 3rd toeAbnormality of the skele HP:0009172 Abnormality of the phalanges of the 4th fingerAbnormality of the skele HP:0010336 Abnormality of the phalanges of the 4th toeAbnormality of the skele HP:0004213 Abnormality of the phalanges of the 5th fingerAbnormality of the skele HP:0010342 Abnormality of the phalanges of the 5th toeAbnormality of the skele HP:0010057 Abnormality of the phalanges of the halluxAbnormality of the skele HP:0010161 Abnormality of the phalanges of the toesAbnormality of the skele HP:0010594 Abnormality of the proximal fibular epiphysisAbnormality of the skele HP:0010598 Abnormality of the proximal humeral epiphysisAbnormality of the skele HP:0009834 Abnormality of the proximal phalanges of the handAbnormality of the skele HP:0009544 Abnormality of the proximal phalanx of the 2nd fingerAbnormality of the skele HP:0010358 Abnormality of the proximal phalanx of the 2nd toeAbnormality of the skele HP:0009358 Abnormality of the proximal phalanx of the 3rd fingerAbnormality of the skele HP:0010370 Abnormality of the proximal phalanx of the 3rd Abnormality of the skele HP:0009284 Abnormality of the proximal phalanx of the 4th fingerAbnormality of the skele HP:0010382 Abnormality of the proximal phalanx of the 4th toeAbnormality of the skele HP:0009150 Abnormality of the proximal phalanx of the 5th fAbnormality of the skele HP:0010394 Abnormality of the proximal phalanx of the 5th toeAbnormality of the skele HP:0010052 Abnormality of the proximal phalanx of the hallAbnormality of the skele HP:0009618 Abnormality of the proximal phalanx of the thuAbnormality of the skele HP:0010596 Abnormality of the proximal radial epiphysisAbnormality of the skele HP:0010591 Abnormality of the proximal tibial epiphysisAbnormality of the skele HP:0010601 Abnormality of the proximal ulnar epiphysisAbnormality of the skele HP:0003172 Abnormality of the pubic bonesAbnormality of the skele HP:0003995 Abnormality of the radial headAbnormality of the skele HP:0003059 Abnormality of the radioulnar jointsAbnormality of the skele HP:0002818 Abnormality of the radiusAbnormality of the skele HP:0001547 Abnormality of the rib cageAbnormality of the skele HP:0000772 Abnormality of the ribs

Abnormality of the skele HP:0100781 Abnormality of the sacroiliac jointAbnormality of the skele HP:0005107 Abnormality of the sacrumAbnormality of the skele HP:0004243 Abnormality of the scaphoidAbnormality of the skele HP:0000782 Abnormality of the scapulaAbnormality of the skele HP:0003043 Abnormality of the shoulderAbnormality of the skele HP:0001435 Abnormality of the shoulder girdle musculatureAbnormality of the skele HP:0000924 Abnormality of the skeletal systemAbnormality of the skele HP:0000766 Abnormality of the sternumAbnormality of the skele HP:0004035 Abnormality of the styloid processAbnormality of the skele HP:0005262 Abnormality of the synoviaAbnormality of the skele HP:0008365 Abnormality of the talusAbnormality of the skele HP:0001850 Abnormality of the tarsal bonesAbnormality of the skele HP:0001227 Abnormality of the thenar eminenceAbnormality of the skele HP:0010672 Abnormality of the third metatarsal boneAbnormality of the skele HP:0100711 Abnormality of the thoracic spineAbnormality of the skele HP:0000765 Abnormality of the thoraxAbnormality of the skele HP:0001172 Abnormality of the thumbAbnormality of the skele HP:0002992 Abnormality of the tibiaAbnormality of the skele HP:0006491 Abnormality of the tibial metaphysisAbnormality of the skele HP:0003832 Abnormality of the tibial plateauxAbnormality of the skele HP:0004252 Abnormality of the trapeziumAbnormality of the skele HP:0004256 Abnormality of the trapezoid boneAbnormality of the skele HP:0002997 Abnormality of the ulnaAbnormality of the skele HP:0004037 Abnormality of the ulnar epiphysesAbnormality of the skele HP:0001454 Abnormality of the upper armAbnormality of the skele HP:0002817 Abnormality of the upper limbAbnormality of the skele HP:0003468 Abnormality of the vertebraeAbnormality of the skele HP:0000925 Abnormality of the vertebral columnAbnormality of the skele HP:0005106 Abnormality of the vertebral endplatesAbnormality of the skele HP:0100734 Abnormality of the vertebral epiphysesAbnormality of the skele HP:0008516 Abnormality of the vertebral spinous processesAbnormality of the skele HP:0011867 Abnormality of the wing of the iliumAbnormality of the skele HP:0003019 Abnormality of the wristAbnormality of the skele HP:0100892 Abnormality of the xiphoid processAbnormality of the skele HP:0009599 Abnormality of thumb epiphysisAbnormality of the skele HP:0009602 Abnormality of thumb phalanxAbnormality of the skele HP:0006508 Abnormality of tibial epiphysesAbnormality of the skele HP:0001780 Abnormality of toeAbnormality of the skele HP:0010184 Abnormality of toe proximal phalanxAbnormality of the skele HP:0004039 Abnormality of ulnar metaphysisAbnormality of the skele HP:0009809 Abnormality of upper limb metaphysisAbnormality of the skele HP:0006014 Abnormally shaped carpal bonesAbnormality of the skele HP:0100795 Abnormally straight spineAbnormality of the skele HP:0010305 Absence of the sacrumAbnormality of the skele HP:0001032 Absent distal interphalangeal creasesAbnormality of the skele HP:0005807 Absent distal phalangesAbnormality of the skele HP:0010432 Absent distal phalanx of the 2nd toeAbnormality of the skele HP:0100378 Absent distal phalanx of the 3rd toeAbnormality of the skele HP:0001049 Absent dorsal skin creases over affected jointsAbnormality of the skele HP:0010577 Absent epiphyses

Abnormality of the skele HP:0009488 Absent epiphyses of the 2nd fingerAbnormality of the skele HP:0100044 Absent epiphyses of the 2nd toeAbnormality of the skele HP:0009410 Absent epiphyses of the 3rd fingerAbnormality of the skele HP:0100055 Absent epiphyses of the 3rd toeAbnormality of the skele HP:0009393 Absent epiphyses of the 4th fingerAbnormality of the skele HP:0100066 Absent epiphyses of the 4th toeAbnormality of the skele HP:0009382 Absent epiphyses of the 5th fingerAbnormality of the skele HP:0100077 Absent epiphyses of the 5th toeAbnormality of the skele HP:0010246 Absent epiphyses of the distal phalanges of the handAbnormality of the skele HP:0010257 Absent epiphyses of the middle phalanges of the handAbnormality of the skele HP:0010228 Absent epiphyses of the phalanges of the handAbnormality of the skele HP:0010268 Absent epiphyses of the proximal phalanges of the handAbnormality of the skele HP:0009686 Absent epiphyses of the thumbAbnormality of the skele HP:0010162 Absent epiphyses of the toesAbnormality of the skele HP:0010015 Absent epiphysis of the 1st metacarpalAbnormality of the skele HP:0010149 Absent epiphysis of the 1st metatarsalAbnormality of the skele HP:0009502 Absent epiphysis of the distal phalanx of the 2Abnormality of the skele HP:0100100 Absent epiphysis of the distal phalanx of the 2nd toeAbnormality of the skele HP:0009335 Absent epiphysis of the distal phalanx of the 3rAbnormality of the skele HP:0100135 Absent epiphysis of the distal phalanx of the 3rd toeAbnormality of the skele HP:0009250 Absent epiphysis of the distal phalanx of the 4thAbnormality of the skele HP:0100169 Absent epiphysis of the distal phalanx of the 4th toeAbnormality of the skele HP:0003696 Absent epiphysis of the distal phalanx of the 5thAbnormality of the skele HP:0100202 Absent epiphysis of the distal phalanx of the 5th toeAbnormality of the skele HP:0010138 Absent epiphysis of the distal phalanx of the haAbnormality of the skele HP:0009675 Absent epiphysis of the distal phalanx of the tAbnormality of the skele HP:0009513 Absent epiphysis of the middle phalanx of the 2nd fingerAbnormality of the skele HP:0100111 Absent epiphysis of the middle phalanx of the 2nd toeAbnormality of the skele HP:0009321 Absent epiphysis of the middle phalanx of the 3Abnormality of the skele HP:0100146 Absent epiphysis of the middle phalanx of the 3rd toeAbnormality of the skele HP:0009214 Absent epiphysis of the middle phalanx of the 4Abnormality of the skele HP:0100180 Absent epiphysis of the middle phalanx of the 4th toeAbnormality of the skele HP:0009203 Absent epiphysis of the middle phalanx of the 5Abnormality of the skele HP:0100213 Absent epiphysis of the middle phalanx of the 5th toeAbnormality of the skele HP:0009524 Absent epiphysis of the proximal phalanx of the 2nd fingerAbnormality of the skele HP:0100122 Absent epiphysis of the proximal phalanx of the 2nd toeAbnormality of the skele HP:0009346 Absent epiphysis of the proximal phalanx of theAbnormality of the skele HP:0100157 Absent epiphysis of the proximal phalanx of the 3rd toeAbnormality of the skele HP:0009261 Absent epiphysis of the proximal phalanx of theAbnormality of the skele HP:0100191 Absent epiphysis of the proximal phalanx of the 4th toeAbnormality of the skele HP:0009160 Absent epiphysis of the proximal phalanx of theAbnormality of the skele HP:0100224 Absent epiphysis of the proximal phalanx of the 5th toeAbnormality of the skele HP:0010127 Absent epiphysis of the proximal phalanx of theAbnormality of the skele HP:0009664 Absent epiphysis of the proximal phalanx of thAbnormality of the skele HP:0008079 Absent fifth metatarsalAbnormality of the skele HP:0010104 Absent first metatarsalAbnormality of the skele HP:0011301 Absent footAbnormality of the skele HP:0005632 Absent forearmAbnormality of the skele HP:0003953 Absent forearm boneAbnormality of the skele HP:0005780 Absent fourth finger distal interphalangeal crea

Abnormality of the skele HP:0006591 Absent glenoid fossaAbnormality of the skele HP:0012386 Absent halluxAbnormality of the skele HP:0010113 Absent hallux epiphysisAbnormality of the skele HP:0004050 Absent handAbnormality of the skele HP:0003892 Absent humeral epiphyseal ossificationAbnormality of the skele HP:0003862 Absent humerusAbnormality of the skele HP:0008435 Absent in utero ossification of vertebral bodiesAbnormality of the skele HP:0006615 Absent in utero rib ossificationAbnormality of the skele HP:0006400 Absent knee epiphysesAbnormality of the skele HP:0009196 Absent metacarpal epiphysesAbnormality of the skele HP:0010744 Absent metatarsal boneAbnormality of the skele HP:0009576 Absent middle phalanx of 2nd fingerAbnormality of the skele HP:0009438 Absent middle phalanx of 3rd fingerAbnormality of the skele HP:0009294 Absent middle phalanx of 4th fingerAbnormality of the skele HP:0009162 Absent middle phalanx of 5th fingerAbnormality of the skele HP:0100381 Absent middle phalanx of the 3rd toeAbnormality of the skele HP:0004599 Absent or minimally ossified vertebral bodiesAbnormality of the skele HP:0008820 Absent ossification of capital femoral epiphysisAbnormality of the skele HP:0005885 Absent ossification of cervical vertebral bodiesAbnormality of the skele HP:0012792 Absent ossification of thoracic vertebral bodiesAbnormality of the skele HP:0010489 Absent palmar creaseAbnormality of the skele HP:0006109 Absent phalangeal creaseAbnormality of the skele HP:0003332 Absent primary metaphyseal spongiosaAbnormality of the skele HP:0006077 Absent proximal finger flexion creasesAbnormality of the skele HP:0100384 Absent proximal phalanx of the 3rd toeAbnormality of the skele HP:0009637 Absent proximal phalanx of thumbAbnormality of the skele HP:0005093 Absent proximal radial epiphysesAbnormality of the skele HP:0003974 Absent radiusAbnormality of the skele HP:0011835 Absent scaphoidAbnormality of the skele HP:0008464 Absent spinous processes of lower thoracic and lumbar vertebraeAbnormality of the skele HP:0006628 Absent sternal ossificationAbnormality of the skele HP:0009777 Absent thumbAbnormality of the skele HP:0009556 Absent tibiaAbnormality of the skele HP:0010760 Absent toeAbnormality of the skele HP:0004253 Absent trapezium/absent ossification of the trapeziumAbnormality of the skele HP:0006106 Absent trapezoid boneAbnormality of the skele HP:0003982 Absent ulnaAbnormality of the skele HP:0008465 Absent vertebraeAbnormality of the skele HP:0004605 Absent vertebral body mineralizationAbnormality of the skele HP:0008436 Absent/hypoplastic coccyxAbnormality of the skele HP:0002805 Accelerated bone age after pubertyAbnormality of the skele HP:0005616 Accelerated skeletal maturationAbnormality of the skele HP:0004232 Accessory carpal bonesAbnormality of the skele HP:0004249 Accessory lunateAbnormality of the skele HP:0004244 Accessory scaphoidAbnormality of the skele HP:0008807 Acetabular dysplasiaAbnormality of the skele HP:0010454 Acetabular spursAbnormality of the skele HP:0001771 Achilles tendon contractureAbnormality of the skele HP:0001226 Acral ulceration and osteomyelitis leading to auAbnormality of the skele HP:0001862 Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet)

Abnormality of the skele HP:0006121 Acral ulceration leading to autoamputation of digitsAbnormality of the skele HP:0010884 AcromeliaAbnormality of the skele HP:0010494 Acromelia of the lower limbsAbnormality of the skele HP:0010482 Acromelia of the upper limbsAbnormality of the skele HP:0003086 AcromesomeliaAbnormality of the skele HP:0001842 Acroosteolysis (feet)Abnormality of the skele HP:0001870 Acroosteolysis of distal phalanges (feet)Abnormality of the skele HP:0009776 AdactylyAbnormality of the skele HP:0001181 Adducted thumbAbnormality of the skele HP:0006366 Adductor longus contracturesAbnormality of the skele HP:0004233 Advanced ossification of carpal bonesAbnormality of the skele HP:0004051 Advanced ossification of the hand bonesAbnormality of the skele HP:0003893 Advanced ossification of the humeral epiphysisAbnormality of the skele HP:0008108 Advanced tarsal ossificationAbnormality of the skele HP:0009827 AmeliaAbnormality of the skele HP:0009818 Amelia involving the lower limbsAbnormality of the skele HP:0009812 Amelia involving the upper limbsAbnormality of the skele HP:0010483 Amniotic constriction rings of armsAbnormality of the skele HP:0010495 Amniotic constriction rings of legsAbnormality of the skele HP:0001465 Amyotrophy involving the shoulder musculatureAbnormality of the skele HP:0009031 Amyotrophy of ankle musculatureAbnormality of the skele HP:0012063 Aneurysmal bone cystAbnormality of the skele HP:0003954 Angulated forearm bonesAbnormality of the skele HP:0003863 Angulated humerusAbnormality of the skele HP:0002879 AnisospondylyAbnormality of the skele HP:0006466 Ankle contractureAbnormality of the skele HP:0001785 Ankle swellingAbnormality of the skele HP:0008090 Ankylosis of feet small jointsAbnormality of the skele HP:0006593 Anomalous rib insertion to vertebraeAbnormality of the skele HP:0012699 Anomaly of lower limb diaphysesAbnormality of the skele HP:0006504 Anomaly of the limb diaphysesAbnormality of the skele HP:0009808 Anomaly of the upper limb diaphysesAbnormality of the skele HP:0009760 Antecubital pterygiumAbnormality of the skele HP:0005678 Anterior atlanto-occipital dislocationAbnormality of the skele HP:0004607 Anterior beaking of lower thoracic vertebraeAbnormality of the skele HP:0008430 Anterior beaking of lumbar vertebraeAbnormality of the skele HP:0004630 Anterior beaking of thoracic vertebraeAbnormality of the skele HP:0006473 Anterior bowing of long bonesAbnormality of the skele HP:0009761 Anterior clefting of vertebral bodiesAbnormality of the skele HP:0004611 Anterior concavity of thoracic vertebraeAbnormality of the skele HP:0005084 Anterior radial head dislocationAbnormality of the skele HP:0000907 Anterior rib cuppingAbnormality of the skele HP:0006619 Anterior rib punctate calcificationsAbnormality of the skele HP:0008488 Anterior rounding of vertebral bodiesAbnormality of the skele HP:0007293 Anterior sacral meningoceleAbnormality of the skele HP:0004580 Anterior scalloping of vertebral bodiesAbnormality of the skele HP:0006390 Anterior tibial bowingAbnormality of the skele HP:0004557 Anterior vertebral fusionAbnormality of the skele HP:0004573 Anterior wedging of T11Abnormality of the skele HP:0008432 Anterior wedging of L1

Abnormality of the skele HP:0011941 Anterior wedging of L2Abnormality of the skele HP:0011940 Anterior wedging of T12Abnormality of the skele HP:0004608 Anteriorly placed odontoid processAbnormality of the skele HP:0005050 Anterolateral radial head dislocationAbnormality of the skele HP:0005303 Aortic arch calcificationAbnormality of the skele HP:0004380 Aortic valve calcificationAbnormality of the skele HP:0200113 Aphalangy of hands and feetAbnormality of the skele HP:0005886 Aphalangy of the handsAbnormality of the skele HP:0009825 Aplasia involving bones of the extremitiesAbnormality of the skele HP:0009817 Aplasia involving bones of the lower limbsAbnormality of the skele HP:0009823 Aplasia involving bones of the upper limbsAbnormality of the skele HP:0009822 Aplasia involving forearm bonesAbnormality of the skele HP:0010048 Aplasia of metacarpal bonesAbnormality of the skele HP:0010035 Aplasia of the 1st metacarpalAbnormality of the skele HP:0009535 Aplasia of the 2nd fingerAbnormality of the skele HP:0010037 Aplasia of the 2nd metacarpalAbnormality of the skele HP:0009460 Aplasia of the 3rd fingerAbnormality of the skele HP:0010040 Aplasia of the 3rd metacarpalAbnormality of the skele HP:0009281 Aplasia of the 4th fingerAbnormality of the skele HP:0010043 Aplasia of the 4th metacarpalAbnormality of the skele HP:0009238 Aplasia of the 5th fingerAbnormality of the skele HP:0010046 Aplasia of the 5th metacarpalAbnormality of the skele HP:0009881 Aplasia of the distal phalanges of the handAbnormality of the skele HP:0010645 Aplasia of the distal phalanges of the toesAbnormality of the skele HP:0009565 Aplasia of the distal phalanx of the 2nd fingerAbnormality of the skele HP:0009429 Aplasia of the distal phalanx of the 3rd fingerAbnormality of the skele HP:0009291 Aplasia of the distal phalanx of the 4th fingerAbnormality of the skele HP:0100379 Aplasia of the distal phalanx of the 4th toeAbnormality of the skele HP:0009246 Aplasia of the distal phalanx of the 5th fingerAbnormality of the skele HP:0100380 Aplasia of the distal phalanx of the 5th toeAbnormality of the skele HP:0010102 Aplasia of the distal phalanx of the halluxAbnormality of the skele HP:0009649 Aplasia of the distal phalanx of the thumbAbnormality of the skele HP:0100862 Aplasia of the femoral headAbnormality of the skele HP:0100863 Aplasia of the femoral neckAbnormality of the skele HP:0009380 Aplasia of the fingersAbnormality of the skele HP:0100387 Aplasia of the middle phalanges of the toesAbnormality of the skele HP:0010434 Aplasia of the middle phalanx of the 2nd toeAbnormality of the skele HP:0100382 Aplasia of the middle phalanx of the 4th toeAbnormality of the skele HP:0100383 Aplasia of the middle phalanx of the 5th toeAbnormality of the skele HP:0010239 Aplasia of the middle phalanx of the handAbnormality of the skele HP:0009751 Aplasia of the pectoralis major muscleAbnormality of the skele HP:0010430 Aplasia of the phalanges of the 2nd toeAbnormality of the skele HP:0100362 Aplasia of the phalanges of the 3rd toeAbnormality of the skele HP:0100363 Aplasia of the phalanges of the 4th toeAbnormality of the skele HP:0100364 Aplasia of the phalanges of the 5th toeAbnormality of the skele HP:0010110 Aplasia of the phalanges of the halluxAbnormality of the skele HP:0009802 Aplasia of the phalanges of the handAbnormality of the skele HP:0010745 Aplasia of the phalanges of the toesAbnormality of the skele HP:0010242 Aplasia of the proximal phalanges of the handAbnormality of the skele HP:0100388 Aplasia of the proximal phalanges of the toes

Abnormality of the skele HP:0009596 Aplasia of the proximal phalanx of the 2nd fingeAbnormality of the skele HP:0010436 Aplasia of the proximal phalanx of the 2nd toeAbnormality of the skele HP:0009458 Aplasia of the proximal phalanx of the 3rd fingeAbnormality of the skele HP:0009298 Aplasia of the proximal phalanx of the 4th fingeAbnormality of the skele HP:0100385 Aplasia of the proximal phalanx of the 4th toeAbnormality of the skele HP:0009225 Aplasia of the proximal phalanx of the 5th fingeAbnormality of the skele HP:0100386 Aplasia of the proximal phalanx of the 5th toeAbnormality of the skele HP:0010106 Aplasia of the proximal phalanx of the halluxAbnormality of the skele HP:0010509 Aplasia of the tarsal bonesAbnormality of the skele HP:0006494 Aplasia/Hypoplasia involving bones of the feetAbnormality of the skele HP:0006711 Aplasia/Hypoplasia involving bones of the thoraxAbnormality of the skele HP:0006502 Aplasia/Hypoplasia involving the carpal bonesAbnormality of the skele HP:0009108 Aplasia/Hypoplasia involving the femoral head and neckAbnormality of the skele HP:0005914 Aplasia/Hypoplasia involving the metacarpal bAbnormality of the skele HP:0009128 Aplasia/Hypoplasia involving the musculature of the extremitiesAbnormality of the skele HP:0001468 Aplasia/Hypoplasia involving the musculature oAbnormality of the skele HP:0001467 Aplasia/Hypoplasia involving the musculature oAbnormality of the skele HP:0009103 Aplasia/Hypoplasia involving the pelvisAbnormality of the skele HP:0001464 Aplasia/Hypoplasia involving the shoulder muscAbnormality of the skele HP:0008518 Aplasia/Hypoplasia involving the vertebral columnAbnormality of the skele HP:0006265 Aplasia/Hypoplasia of fingersAbnormality of the skele HP:0001964 Aplasia/Hypoplasia of metatarsal bonesAbnormality of the skele HP:0010026 Aplasia/Hypoplasia of the 1st metacarpalAbnormality of the skele HP:0006264 Aplasia/Hypoplasia of the 2nd fingerAbnormality of the skele HP:0010036 Aplasia/Hypoplasia of the 2nd metacarpalAbnormality of the skele HP:0010325 Aplasia/Hypoplasia of the 2nd toeAbnormality of the skele HP:0009318 Aplasia/Hypoplasia of the 3rd fingerAbnormality of the skele HP:0010039 Aplasia/Hypoplasia of the 3rd metacarpalAbnormality of the skele HP:0010331 Aplasia/Hypoplasia of the 3rd toeAbnormality of the skele HP:0009272 Aplasia/Hypoplasia of the 4th fingerAbnormality of the skele HP:0010042 Aplasia/Hypoplasia of the 4th metacarpalAbnormality of the skele HP:0010337 Aplasia/Hypoplasia of the 4th toeAbnormality of the skele HP:0006262 Aplasia/Hypoplasia of the 5th fingerAbnormality of the skele HP:0010045 Aplasia/Hypoplasia of the 5th metacarpalAbnormality of the skele HP:0010343 Aplasia/Hypoplasia of the 5th toeAbnormality of the skele HP:0009782 Aplasia/Hypoplasia of the bicepsAbnormality of the skele HP:0005003 Aplasia/Hypoplasia of the capital femoral epiphAbnormality of the skele HP:0011041 Aplasia/Hypoplasia of the cervical spineAbnormality of the skele HP:0006710 Aplasia/Hypoplasia of the claviclesAbnormality of the skele HP:0009835 Aplasia/Hypoplasia of the distal phalanges of tAbnormality of the skele HP:0010185 Aplasia/Hypoplasia of the distal phalanges of tAbnormality of the skele HP:0009557 Aplasia/Hypoplasia of the distal phalanx of the 2nd fingerAbnormality of the skele HP:0010413 Aplasia/Hypoplasia of the distal phalanx of the 2nd toeAbnormality of the skele HP:0009421 Aplasia/Hypoplasia of the distal phalanx of the 3rd fingerAbnormality of the skele HP:0100369 Aplasia/Hypoplasia of the distal phalanx of the 3rd toeAbnormality of the skele HP:0009289 Aplasia/Hypoplasia of the distal phalanx of the 4th fingerAbnormality of the skele HP:0100370 Aplasia/Hypoplasia of the distal phalanx of the 4th toeAbnormality of the skele HP:0009239 Aplasia/Hypoplasia of the distal phalanx of the 5th fingerAbnormality of the skele HP:0100371 Aplasia/Hypoplasia of the distal phalanx of the 5th toeAbnormality of the skele HP:0010076 Aplasia/Hypoplasia of the distal phalanx of the hallux

Abnormality of the skele HP:0009641 Aplasia/Hypoplasia of the distal phalanx of the thumbAbnormality of the skele HP:0006492 Aplasia/Hypoplasia of the fibulaAbnormality of the skele HP:0008362 Aplasia/Hypoplasia of the halluxAbnormality of the skele HP:0009843 Aplasia/Hypoplasia of the middle phalanges of the handAbnormality of the skele HP:0010194 Aplasia/Hypoplasia of the middle phalanges of the toesAbnormality of the skele HP:0009568 Aplasia/Hypoplasia of the middle phalanx of the 2nd fingerAbnormality of the skele HP:0010404 Aplasia/Hypoplasia of the middle phalanx of the 2nd toeAbnormality of the skele HP:0009437 Aplasia/Hypoplasia of the middle phalanx of the 3rd fingerAbnormality of the skele HP:0100372 Aplasia/Hypoplasia of the middle phalanx of the 3rd toeAbnormality of the skele HP:0009299 Aplasia/Hypoplasia of the middle phalanx of the 4th fingerAbnormality of the skele HP:0100373 Aplasia/Hypoplasia of the middle phalanx of the 4th toeAbnormality of the skele HP:0009161 Aplasia/Hypoplasia of the middle phalanx of theAbnormality of the skele HP:0100374 Aplasia/Hypoplasia of the middle phalanx of the 5th toeAbnormality of the skele HP:0009786 Aplasia/Hypoplasia of the musculature of the thAbnormality of the skele HP:0010488 Aplasia/Hypoplasia of the palmar creasesAbnormality of the skele HP:0006498 Aplasia/Hypoplasia of the patellaAbnormality of the skele HP:0009552 Aplasia/Hypoplasia of the phalanges of the 2nd fingerAbnormality of the skele HP:0010347 Aplasia/Hypoplasia of the phalanges of the 2nd toeAbnormality of the skele HP:0009447 Aplasia/Hypoplasia of the phalanges of the 3rd fingerAbnormality of the skele HP:0010359 Aplasia/Hypoplasia of the phalanges of the 3rd toeAbnormality of the skele HP:0009408 Aplasia/Hypoplasia of the phalanges of the 4th fingerAbnormality of the skele HP:0010371 Aplasia/Hypoplasia of the phalanges of the 4th toeAbnormality of the skele HP:0009376 Aplasia/Hypoplasia of the phalanges of the 5th Abnormality of the skele HP:0010383 Aplasia/Hypoplasia of the phalanges of the 5th toeAbnormality of the skele HP:0010058 Aplasia/Hypoplasia of the phalanges of the halluxAbnormality of the skele HP:0009767 Aplasia/Hypoplasia of the phalanges of the hanAbnormality of the skele HP:0009658 Aplasia/Hypoplasia of the phalanges of the thumbAbnormality of the skele HP:0010173 Aplasia/Hypoplasia of the phalanges of the toesAbnormality of the skele HP:0009851 Aplasia/Hypoplasia of the proximal phalanges of the handAbnormality of the skele HP:0009580 Aplasia/Hypoplasia of the proximal phalanx of the 2nd fingerAbnormality of the skele HP:0009457 Aplasia/Hypoplasia of the proximal phalanx of the 3rd fingerAbnormality of the skele HP:0009300 Aplasia/Hypoplasia of the proximal phalanx of the 4th fingerAbnormality of the skele HP:0009192 Aplasia/Hypoplasia of the proximal phalanx of tAbnormality of the skele HP:0010085 Aplasia/Hypoplasia of the proximal phalanx of the halluxAbnormality of the skele HP:0009629 Aplasia/Hypoplasia of the proximal phalanx of Abnormality of the skele HP:0009104 Aplasia/Hypoplasia of the pubic boneAbnormality of the skele HP:0009787 Aplasia/Hypoplasia of the quadricepsAbnormality of the skele HP:0006501 Aplasia/Hypoplasia of the radiusAbnormality of the skele HP:0006712 Aplasia/Hypoplasia of the ribsAbnormality of the skele HP:0008517 Aplasia/Hypoplasia of the sacrumAbnormality of the skele HP:0006713 Aplasia/Hypoplasia of the scapulaeAbnormality of the skele HP:0006714 Aplasia/Hypoplasia of the sternumAbnormality of the skele HP:0008363 Aplasia/Hypoplasia of the tarsal bonesAbnormality of the skele HP:0009601 Aplasia/Hypoplasia of the thumbAbnormality of the skele HP:0005772 Aplasia/Hypoplasia of the tibiaAbnormality of the skele HP:0009784 Aplasia/Hypoplasia of the tricepsAbnormality of the skele HP:0006495 Aplasia/Hypoplasia of the ulnaAbnormality of the skele HP:0008515 Aplasia/Hypoplasia of the vertebraeAbnormality of the skele HP:0001991 Aplasia/Hypoplasia of toeAbnormality of the skele HP:0009122 Aplasia/hypoplasia affecting bones of the axial

Abnormality of the skele HP:0005927 Aplasia/hypoplasia involving bones of the handAbnormality of the skele HP:0006493 Aplasia/hypoplasia involving bones of the lowerAbnormality of the skele HP:0006496 Aplasia/hypoplasia involving bones of the uppeAbnormality of the skele HP:0006503 Aplasia/hypoplasia involving forearm bonesAbnormality of the skele HP:0009115 Aplasia/hypoplasia involving the skeletonAbnormality of the skele HP:0010203 Aplasia/hypoplasia of proximal toe phalanxAbnormality of the skele HP:0010067 Aplasia/hypoplasia of the 1st metatarsalAbnormality of the skele HP:0009815 Aplasia/hypoplasia of the extremitiesAbnormality of the skele HP:0005613 Aplasia/hypoplasia of the femurAbnormality of the skele HP:0006507 Aplasia/hypoplasia of the humerusAbnormality of the skele HP:0010395 Aplasia/hypoplasia of the proximal phalanx of tAbnormality of the skele HP:0100375 Aplasia/hypoplasia of the proximal phalanx of tAbnormality of the skele HP:0100376 Aplasia/hypoplasia of the proximal phalanx of tAbnormality of the skele HP:0100377 Aplasia/hypoplasia of the proximal phalanx of tAbnormality of the skele HP:0006660 Aplastic claviclesAbnormality of the skele HP:0008817 Aplastic pubic bonesAbnormality of the skele HP:0001166 ArachnodactylyAbnormality of the skele HP:0003207 Arterial calcificationAbnormality of the skele HP:0002829 ArthralgiaAbnormality of the skele HP:0003365 Arthralgia of the hipAbnormality of the skele HP:0001369 ArthritisAbnormality of the skele HP:0002804 Arthrogryposis multiplex congenitaAbnormality of the skele HP:0005612 Arthrogryposis-like hand anomalyAbnormality of the skele HP:0003040 ArthropathyAbnormality of the skele HP:0010885 Aseptic necrosisAbnormality of the skele HP:0010308 AsterniaAbnormality of the skele HP:0006420 Asymmetric radial dysplasiaAbnormality of the skele HP:0008482 Asymmetry of spinal facet jointsAbnormality of the skele HP:0001555 Asymmetry of the thoraxAbnormality of the skele HP:0003413 Atlantoaxial abnormalityAbnormality of the skele HP:0003414 Atlantoaxial dislocationAbnormality of the skele HP:0003467 Atlantoaxial instabilityAbnormality of the skele HP:0001218 AutoamputationAbnormality of the skele HP:0001868 Autoamputation (feet)Abnormality of the skele HP:0007460 Autoamputation of digitsAbnormality of the skele HP:0005743 Avascular necrosis of the capital femoral epiphAbnormality of the skele HP:0001060 Axillary pterygiaAbnormality of the skele HP:0003418 Back painAbnormality of the skele HP:0001552 Barrel-shaped chestAbnormality of the skele HP:0000923 Beaded ribsAbnormality of the skele HP:0004568 Beaking of vertebral bodiesAbnormality of the skele HP:0004562 Beaking of vertebral bodies T12-L3Abnormality of the skele HP:0001591 Bell-shaped thoraxAbnormality of the skele HP:0009783 Biceps aplasiaAbnormality of the skele HP:0003321 Biconcave flattened vertebraeAbnormality of the skele HP:0004586 Biconcave vertebral bodiesAbnormality of the skele HP:0004625 Biconvex vertebral bodiesAbnormality of the skele HP:0009611 Bifid distal phalanx of the thumbAbnormality of the skele HP:0001853 Bifid distal phalanx of toeAbnormality of the skele HP:0010443 Bifid femur

Abnormality of the skele HP:0009616 Bifid first metacarpalAbnormality of the skele HP:0003864 Bifid humerusAbnormality of the skele HP:0009614 Bifid proximal phalanx of the thumbAbnormality of the skele HP:0000892 Bifid ribsAbnormality of the skele HP:0009791 Bifid sacrumAbnormality of the skele HP:0010309 Bifid sternumAbnormality of the skele HP:0008437 Bifid thoracic vertebraeAbnormality of the skele HP:0005848 Bifid thumb distal phalanxAbnormality of the skele HP:0100891 Bifid xiphoid processAbnormality of the skele HP:0005617 Bilateral camptodactylyAbnormality of the skele HP:0010665 Bilateral coxa valgaAbnormality of the skele HP:0005021 Bilateral elbow dislocationsAbnormality of the skele HP:0006136 Bilateral postaxial polydactylyAbnormality of the skele HP:0004977 Bilateral radial aplasiaAbnormality of the skele HP:0007598 Bilateral single transverse palmar creasesAbnormality of the skele HP:0001776 Bilateral talipes equinovarusAbnormality of the skele HP:0005707 Bilateral triphalangeal thumbsAbnormality of the skele HP:0005648 Bilateral ulnar hypoplasiaAbnormality of the skele HP:0012453 Bilateral wrist flexion contractureAbnormality of the skele HP:0008127 Bipartite calcaneusAbnormality of the skele HP:0010498 Bipartite patellaAbnormality of the skele HP:0003305 Block vertebraeAbnormality of the skele HP:0012062 Bone cystAbnormality of the skele HP:0002653 Bone painAbnormality of the skele HP:0003955 Bone-in-a-bone appearance (forearm)Abnormality of the skele HP:0004234 Bone-in-a-bone appearance of carpal bonesAbnormality of the skele HP:0004038 Bony spikule of ulnar epiphyseal plateAbnormality of the skele HP:0012314 Bouchard's nodeAbnormality of the skele HP:0003956 Bowed forearm bonesAbnormality of the skele HP:0003865 Bowed humerusAbnormality of the skele HP:0003023 Bowing of limbs due to multiple fracturesAbnormality of the skele HP:0006488 Bowing of the armAbnormality of the skele HP:0002979 Bowing of the legsAbnormality of the skele HP:0006487 Bowing of the long bonesAbnormality of the skele HP:0001156 Brachydactyly syndromeAbnormality of the skele HP:0005872 BrachytelomesophalangyAbnormality of the skele HP:0010578 Bracket epiphysesAbnormality of the skele HP:0009489 Bracket epiphyses of the 2nd fingerAbnormality of the skele HP:0100045 Bracket epiphyses of the 2nd toeAbnormality of the skele HP:0009411 Bracket epiphyses of the 3rd fingerAbnormality of the skele HP:0100056 Bracket epiphyses of the 3rd toeAbnormality of the skele HP:0009394 Bracket epiphyses of the 4th fingerAbnormality of the skele HP:0100067 Bracket epiphyses of the 4th toeAbnormality of the skele HP:0009383 Bracket epiphyses of the 5th fingerAbnormality of the skele HP:0100078 Bracket epiphyses of the 5th toeAbnormality of the skele HP:0010247 Bracket epiphyses of the distal phalanges of the handAbnormality of the skele HP:0010114 Bracket epiphyses of the halluxAbnormality of the skele HP:0010258 Bracket epiphyses of the middle phalanges of the handAbnormality of the skele HP:0010229 Bracket epiphyses of the phalanges of the hanAbnormality of the skele HP:0010269 Bracket epiphyses of the proximal phalanges of the hand

Abnormality of the skele HP:0009687 Bracket epiphyses of the thumbAbnormality of the skele HP:0010163 Bracket epiphyses of the toesAbnormality of the skele HP:0010016 Bracket epiphysis of the 1st metacarpalAbnormality of the skele HP:0010150 Bracket epiphysis of the 1st metatarsalAbnormality of the skele HP:0009503 Bracket epiphysis of the distal phalanx of the 2Abnormality of the skele HP:0100101 Bracket epiphysis of the distal phalanx of the 2nd toeAbnormality of the skele HP:0009336 Bracket epiphysis of the distal phalanx of the 3rAbnormality of the skele HP:0100136 Bracket epiphysis of the distal phalanx of the 3rd toeAbnormality of the skele HP:0009251 Bracket epiphysis of the distal phalanx of the 4tAbnormality of the skele HP:0100170 Bracket epiphysis of the distal phalanx of the 4th toeAbnormality of the skele HP:0009187 Bracket epiphysis of the distal phalanx of the 5tAbnormality of the skele HP:0100203 Bracket epiphysis of the distal phalanx of the 5th toeAbnormality of the skele HP:0010139 Bracket epiphysis of the distal phalanx of the haAbnormality of the skele HP:0009676 Bracket epiphysis of the distal phalanx of the Abnormality of the skele HP:0009514 Bracket epiphysis of the middle phalanx of the 2nd fingerAbnormality of the skele HP:0100112 Bracket epiphysis of the middle phalanx of the 2nd toeAbnormality of the skele HP:0009322 Bracket epiphysis of the middle phalanx of the 3Abnormality of the skele HP:0100147 Bracket epiphysis of the middle phalanx of the 3rd toeAbnormality of the skele HP:0009215 Bracket epiphysis of the middle phalanx of the 4Abnormality of the skele HP:0100181 Bracket epiphysis of the middle phalanx of the 4th toeAbnormality of the skele HP:0009204 Bracket epiphysis of the middle phalanx of the 5Abnormality of the skele HP:0100214 Bracket epiphysis of the middle phalanx of the 5th toeAbnormality of the skele HP:0009525 Bracket epiphysis of the proximal phalanx of the 2nd fingerAbnormality of the skele HP:0100123 Bracket epiphysis of the proximal phalanx of the 2nd toeAbnormality of the skele HP:0009347 Bracket epiphysis of the proximal phalanx of theAbnormality of the skele HP:0100158 Bracket epiphysis of the proximal phalanx of the 3rd toeAbnormality of the skele HP:0009262 Bracket epiphysis of the proximal phalanx of theAbnormality of the skele HP:0100192 Bracket epiphysis of the proximal phalanx of the 4th toeAbnormality of the skele HP:0009197 Bracket epiphysis of the proximal phalanx of theAbnormality of the skele HP:0100225 Bracket epiphysis of the proximal phalanx of the 5th toeAbnormality of the skele HP:0010128 Bracket epiphysis of the proximal phalanx of thAbnormality of the skele HP:0009665 Bracket epiphysis of the proximal phalanx of tAbnormality of the skele HP:0200050 Bracket metacarpal epiphysesAbnormality of the skele HP:0011310 Bridged palmar creaseAbnormality of the skele HP:0010027 Broad 1st metacarpalAbnormality of the skele HP:0100040 Broad 2nd toeAbnormality of the skele HP:0100041 Broad 3rd toeAbnormality of the skele HP:0100042 Broad 4th toeAbnormality of the skele HP:0100043 Broad 5th toeAbnormality of the skele HP:0004242 Broad carpal bonesAbnormality of the skele HP:0000916 Broad claviclesAbnormality of the skele HP:0003861 Broad diaphyses of the upper limbsAbnormality of the skele HP:0008111 Broad distal halluxAbnormality of the skele HP:0009880 Broad distal phalanges of all fingersAbnormality of the skele HP:0009836 Broad distal phalanx of fingerAbnormality of the skele HP:0009558 Broad distal phalanx of the 2nd fingerAbnormality of the skele HP:0010414 Broad distal phalanx of the 2nd toeAbnormality of the skele HP:0009422 Broad distal phalanx of the 3rd fingerAbnormality of the skele HP:0100431 Broad distal phalanx of the 3rd toeAbnormality of the skele HP:0009292 Broad distal phalanx of the 4th finger

Abnormality of the skele HP:0100432 Broad distal phalanx of the 4th toeAbnormality of the skele HP:0009240 Broad distal phalanx of the 5th fingerAbnormality of the skele HP:0100433 Broad distal phalanx of the 5th toeAbnormality of the skele HP:0010077 Broad distal phalanx of the halluxAbnormality of the skele HP:0009642 Broad distal phalanx of the thumbAbnormality of the skele HP:0010186 Broad distal phalanx of the toesAbnormality of the skele HP:0008804 Broad femoral headAbnormality of the skele HP:0006417 Broad femoral metaphysesAbnormality of the skele HP:0006429 Broad femoral neckAbnormality of the skele HP:0001500 Broad fingerAbnormality of the skele HP:0011300 Broad fingertipAbnormality of the skele HP:0010068 Broad first metatarsalAbnormality of the skele HP:0001769 Broad footAbnormality of the skele HP:0003971 Broad forearm bonesAbnormality of the skele HP:0010055 Broad halluxAbnormality of the skele HP:0010059 Broad hallux phalanxAbnormality of the skele HP:0003906 Broad humeral epiphyseal plateAbnormality of the skele HP:0003903 Broad humeral epiphysesAbnormality of the skele HP:0100865 Broad ischiaAbnormality of the skele HP:0006371 Broad long bone diaphysesAbnormality of the skele HP:0005622 Broad long bonesAbnormality of the skele HP:0006146 Broad metacarpal epiphysesAbnormality of the skele HP:0001230 Broad metacarpalsAbnormality of the skele HP:0001783 Broad metatarsalAbnormality of the skele HP:0010195 Broad middle phalanges of the toesAbnormality of the skele HP:0009844 Broad middle phalanx of fingerAbnormality of the skele HP:0009569 Broad middle phalanx of the 2nd fingerAbnormality of the skele HP:0010405 Broad middle phalanx of the 2nd toeAbnormality of the skele HP:0009430 Broad middle phalanx of the 3rd fingerAbnormality of the skele HP:0100425 Broad middle phalanx of the 3rd toeAbnormality of the skele HP:0009293 Broad middle phalanx of the 4th fingerAbnormality of the skele HP:0100426 Broad middle phalanx of the 4th toeAbnormality of the skele HP:0009169 Broad middle phalanx of the 5th fingerAbnormality of the skele HP:0100427 Broad middle phalanx of the 5th toeAbnormality of the skele HP:0001169 Broad palmAbnormality of the skele HP:0009547 Broad phalanges of the 2nd fingerAbnormality of the skele HP:0010348 Broad phalanges of the 2nd toeAbnormality of the skele HP:0009440 Broad phalanges of the 3rd fingerAbnormality of the skele HP:0010360 Broad phalanges of the 3rd toeAbnormality of the skele HP:0009404 Broad phalanges of the 4th fingerAbnormality of the skele HP:0010372 Broad phalanges of the 4th toeAbnormality of the skele HP:0009374 Broad phalanges of the 5th fingerAbnormality of the skele HP:0010384 Broad phalanges of the 5th toeAbnormality of the skele HP:0009768 Broad phalanges of the handAbnormality of the skele HP:0006009 Broad phalanxAbnormality of the skele HP:0010174 Broad phalanx of the toesAbnormality of the skele HP:0009852 Broad proximal phalanges of the handAbnormality of the skele HP:0009581 Broad proximal phalanx of the 2nd fingerAbnormality of the skele HP:0010396 Broad proximal phalanx of the 2nd toeAbnormality of the skele HP:0009450 Broad proximal phalanx of the 3rd finger

Abnormality of the skele HP:0100428 Broad proximal phalanx of the 3rd toeAbnormality of the skele HP:0009310 Broad proximal phalanx of the 4th fingerAbnormality of the skele HP:0100429 Broad proximal phalanx of the 4th toeAbnormality of the skele HP:0009227 Broad proximal phalanx of the 5th fingerAbnormality of the skele HP:0100430 Broad proximal phalanx of the 5th toeAbnormality of the skele HP:0010086 Broad proximal phalanx of the halluxAbnormality of the skele HP:0009630 Broad proximal phalanx of the thumbAbnormality of the skele HP:0010204 Broad proximal phalanx of toeAbnormality of the skele HP:0004031 Broad radial diaphysisAbnormality of the skele HP:0004014 Broad radial epiphyseal plateAbnormality of the skele HP:0004026 Broad radial metaphysisAbnormality of the skele HP:0003981 Broad radiusAbnormality of the skele HP:0000885 Broad ribsAbnormality of the skele HP:0011304 Broad thumbAbnormality of the skele HP:0006413 Broad tibial metaphysesAbnormality of the skele HP:0001837 Broad toeAbnormality of the skele HP:0003993 Broad ulnaAbnormality of the skele HP:0100894 Broad xiphoid processAbnormality of the skele HP:0001782 Bulbous tips of toesAbnormality of the skele HP:0003013 Bulging epiphysesAbnormality of the skele HP:0000893 Bulging of the costochondral junctionAbnormality of the skele HP:0010028 Bullet-shaped 1st metacarpalAbnormality of the skele HP:0010069 Bullet-shaped 1st metatarsalAbnormality of the skele HP:0010349 Bullet-shaped 2nd toe phalanxAbnormality of the skele HP:0010361 Bullet-shaped 3rd toe phalanxAbnormality of the skele HP:0010373 Bullet-shaped 4th toe phalanxAbnormality of the skele HP:0010385 Bullet-shaped 5th toe phalanxAbnormality of the skele HP:0009837 Bullet-shaped distal phalanges of the handAbnormality of the skele HP:0009559 Bullet-shaped distal phalanx of the 2nd fingerAbnormality of the skele HP:0010415 Bullet-shaped distal phalanx of the 2nd toeAbnormality of the skele HP:0009423 Bullet-shaped distal phalanx of the 3rd fingerAbnormality of the skele HP:0100440 Bullet-shaped distal phalanx of the 3rd toeAbnormality of the skele HP:0009302 Bullet-shaped distal phalanx of the 4th fingerAbnormality of the skele HP:0100441 Bullet-shaped distal phalanx of the 4th toeAbnormality of the skele HP:0009241 Bullet-shaped distal phalanx of the 5th fingerAbnormality of the skele HP:0100442 Bullet-shaped distal phalanx of the 5th toeAbnormality of the skele HP:0010078 Bullet-shaped distal phalanx of the halluxAbnormality of the skele HP:0009643 Bullet-shaped distal phalanx of the thumbAbnormality of the skele HP:0010187 Bullet-shaped distal toe phalanxAbnormality of the skele HP:0010060 Bullet-shaped hallux phalanxAbnormality of the skele HP:0009845 Bullet-shaped middle phalanges of the handAbnormality of the skele HP:0009570 Bullet-shaped middle phalanx of the 2nd fingerAbnormality of the skele HP:0010406 Bullet-shaped middle phalanx of the 2nd toeAbnormality of the skele HP:0009431 Bullet-shaped middle phalanx of the 3rd fingerAbnormality of the skele HP:0100434 Bullet-shaped middle phalanx of the 3rd toeAbnormality of the skele HP:0009296 Bullet-shaped middle phalanx of the 4th fingerAbnormality of the skele HP:0100435 Bullet-shaped middle phalanx of the 4th toeAbnormality of the skele HP:0009168 Bullet-shaped middle phalanx of the 5th fingerAbnormality of the skele HP:0100436 Bullet-shaped middle phalanx of the 5th toeAbnormality of the skele HP:0010196 Bullet-shaped middle toe phalanx

Abnormality of the skele HP:0009548 Bullet-shaped phalanges of the 2nd fingerAbnormality of the skele HP:0009441 Bullet-shaped phalanges of the 3rd fingerAbnormality of the skele HP:0009405 Bullet-shaped phalanges of the 4th fingerAbnormality of the skele HP:0009375 Bullet-shaped phalanges of the 5th fingerAbnormality of the skele HP:0009769 Bullet-shaped phalanges of the handAbnormality of the skele HP:0009853 Bullet-shaped proximal phalanges of the handAbnormality of the skele HP:0009582 Bullet-shaped proximal phalanx of the 2nd fingAbnormality of the skele HP:0010397 Bullet-shaped proximal phalanx of the 2nd toeAbnormality of the skele HP:0009451 Bullet-shaped proximal phalanx of the 3rd fingeAbnormality of the skele HP:0100437 Bullet-shaped proximal phalanx of the 3rd toeAbnormality of the skele HP:0009311 Bullet-shaped proximal phalanx of the 4th fingeAbnormality of the skele HP:0100438 Bullet-shaped proximal phalanx of the 4th toeAbnormality of the skele HP:0009228 Bullet-shaped proximal phalanx of the 5th fingeAbnormality of the skele HP:0100439 Bullet-shaped proximal phalanx of the 5th toeAbnormality of the skele HP:0010087 Bullet-shaped proximal phalanx of the halluxAbnormality of the skele HP:0009631 Bullet-shaped proximal phalanx of the thumbAbnormality of the skele HP:0010205 Bullet-shaped proximal toe phalanxAbnormality of the skele HP:0009652 Bullet-shaped thumb phalanxAbnormality of the skele HP:0010175 Bullet-shaped toe phalanxAbnormality of the skele HP:0003316 Butterfly vertebraeAbnormality of the skele HP:0004617 Butterfly vertebral archAbnormality of the skele HP:0003320 C1-C2 subluxationAbnormality of the skele HP:0008440 C1-C2 vertebral abnormalityAbnormality of the skele HP:0008456 C2-C3 subluxationAbnormality of the skele HP:0004695 Calcaneal epiphyseal stipplingAbnormality of the skele HP:0008122 Calcaneonavicular fusionAbnormality of the skele HP:0001848 Calcaneovalgus deformityAbnormality of the skele HP:0200129 Calcific mitral stenosisAbnormality of the skele HP:0002832 Calcific stipplingAbnormality of the skele HP:0005841 Calcific stippling of infantile cartilaginous skeletonAbnormality of the skele HP:0100593 Calcification of cartilageAbnormality of the skele HP:0100249 Calcification of musclesAbnormality of the skele HP:0004963 Calcification of the aortaAbnormality of the skele HP:0008981 Calf muscle hypertrophyAbnormality of the skele HP:0008962 Calf muscle hypoplasiaAbnormality of the skele HP:0003707 Calf muscle pseudohypertrophyAbnormality of the skele HP:0005450 Calvarial osteosclerosisAbnormality of the skele HP:0100595 CamptocormiaAbnormality of the skele HP:0012385 CamptodactylyAbnormality of the skele HP:0001215 Camptodactyly of 2nd-5th fingersAbnormality of the skele HP:0100490 Camptodactyly of fingerAbnormality of the skele HP:0001836 Camptodactyly of toeAbnormality of the skele HP:0001241 Capitate-hamate fusionAbnormality of the skele HP:0005146 Cardiac valve calcificationAbnormality of the skele HP:0011915 Cardiovascular calcificationAbnormality of the skele HP:0004231 Carpal bone aplasiaAbnormality of the skele HP:0001498 Carpal bone hypoplasiaAbnormality of the skele HP:0005776 Carpal bone malsegmentationAbnormality of the skele HP:0001495 Carpal osteolysisAbnormality of the skele HP:0009702 Carpal synostosis

Abnormality of the skele HP:0100328 Carpometacarpal synostosisAbnormality of the skele HP:0100773 Cartilage destructionAbnormality of the skele HP:0002825 Caudal appendageAbnormality of the skele HP:0008457 Caudal interpedicular narrowingAbnormality of the skele HP:0100657 CelosomiaAbnormality of the skele HP:0006145 Central Y-shaped metacarpalAbnormality of the skele HP:0008463 Central vertebral hypoplasiaAbnormality of the skele HP:0008462 Cervical instabilityAbnormality of the skele HP:0002947 Cervical kyphosisAbnormality of the skele HP:0004558 Cervical platyspondylyAbnormality of the skele HP:0000891 Cervical ribsAbnormality of the skele HP:0008445 Cervical spinal canal stenosisAbnormality of the skele HP:0003318 Cervical spine hypermobilityAbnormality of the skele HP:0010646 Cervical spine instabilityAbnormality of the skele HP:0008480 Cervical spondylosisAbnormality of the skele HP:0003308 Cervical subluxationAbnormality of the skele HP:0004635 Cervical vertebrae fusion (C5/C6)Abnormality of the skele HP:0008459 Cervical vertebral agenesisAbnormality of the skele HP:0008483 Cervical vertebral bodies with decreased anteroposterior diameterAbnormality of the skele HP:0008469 Cervical vertebral dysplasiaAbnormality of the skele HP:0008461 Cervical vertebral facet hypoplasiaAbnormality of the skele HP:0004602 Cervical vertebral fusion (C2/C3)Abnormality of the skele HP:0006170 Chess-pawn distal phalangesAbnormality of the skele HP:0100749 Chest painAbnormality of the skele HP:0004000 Chevron-shaped/cone-shaped radial epiphysesAbnormality of the skele HP:0003975 Chevron-shaped/cone-shaped radiusAbnormality of the skele HP:0009710 Chilblain lesionsAbnormality of the skele HP:0008922 Childhood-onset short-trunk short statureAbnormality of the skele HP:0100662 ChondritisAbnormality of the skele HP:0000934 ChondrocalcinosisAbnormality of the skele HP:0006765 ChondrosarcomaAbnormality of the skele HP:0010762 ChordomaAbnormality of the skele HP:0005901 Chronic recurrent multifocal osteomyelitisAbnormality of the skele HP:0100923 Clavicular sclerosisAbnormality of the skele HP:0004616 Cleft vertebral archAbnormality of the skele HP:0004209 Clinodactyly of the 5th fingerAbnormality of the skele HP:0006384 Club-shaped distal femurAbnormality of the skele HP:0006406 Club-shaped proximal femurAbnormality of the skele HP:0001217 ClubbingAbnormality of the skele HP:0100759 Clubbing of fingersAbnormality of the skele HP:0100760 Clubbing of toesAbnormality of the skele HP:0005802 Coalescence of tarsal bonesAbnormality of the skele HP:0003866 Coarse trabeculae (humeral)Abnormality of the skele HP:0006665 Coat hanger sign of ribsAbnormality of the skele HP:0004235 Comma-shaped carpal bonesAbnormality of the skele HP:0004245 Comma-shaped scaphoidAbnormality of the skele HP:0100884 Compensatory scoliosisAbnormality of the skele HP:0009606 Complete duplication of distal phalanx of the tAbnormality of the skele HP:0010100 Complete duplication of hallux phalanxAbnormality of the skele HP:0009998 Complete duplication of phalanx of hand

Abnormality of the skele HP:0009608 Complete duplication of proximal phalanx of thAbnormality of the skele HP:0010098 Complete duplication of the 1st metatarsalAbnormality of the skele HP:0010001 Complete duplication of the distal phalanges ofAbnormality of the skele HP:0009950 Complete duplication of the distal phalanx of thAbnormality of the skele HP:0010424 Complete duplication of the distal phalanx of thAbnormality of the skele HP:0009965 Complete duplication of the distal phalanx of thAbnormality of the skele HP:0100407 Complete duplication of the distal phalanx of thAbnormality of the skele HP:0009978 Complete duplication of the distal phalanx of thAbnormality of the skele HP:0100408 Complete duplication of the distal phalanx of thAbnormality of the skele HP:0009991 Complete duplication of the distal phalanx of thAbnormality of the skele HP:0100409 Complete duplication of the distal phalanx of thAbnormality of the skele HP:0010096 Complete duplication of the distal phalanx of the halluxAbnormality of the skele HP:0009615 Complete duplication of the first metacarpalAbnormality of the skele HP:0010002 Complete duplication of the middle phalanges oAbnormality of the skele HP:0009952 Complete duplication of the middle phalanx of tAbnormality of the skele HP:0010426 Complete duplication of the middle phalanx of Abnormality of the skele HP:0009966 Complete duplication of the middle phalanx of tAbnormality of the skele HP:0100410 Complete duplication of the middle phalanx of tAbnormality of the skele HP:0009979 Complete duplication of the middle phalanx of tAbnormality of the skele HP:0100411 Complete duplication of the middle phalanx of tAbnormality of the skele HP:0009992 Complete duplication of the middle phalanx of tAbnormality of the skele HP:0100412 Complete duplication of the middle phalanx of tAbnormality of the skele HP:0009957 Complete duplication of the phalanges of the 2nAbnormality of the skele HP:0010429 Complete duplication of the phalanges of the 2Abnormality of the skele HP:0009960 Complete duplication of the phalanges of the 3rAbnormality of the skele HP:0009973 Complete duplication of the phalanges of the 4tAbnormality of the skele HP:0009986 Complete duplication of the phalanges of the 5tAbnormality of the skele HP:0010000 Complete duplication of the proximal phalangesAbnormality of the skele HP:0009954 Complete duplication of the proximal phalanx ofAbnormality of the skele HP:0010422 Complete duplication of the proximal phalanx ofAbnormality of the skele HP:0009967 Complete duplication of the proximal phalanx ofAbnormality of the skele HP:0100413 Complete duplication of the proximal phalanx ofAbnormality of the skele HP:0009980 Complete duplication of the proximal phalanx ofAbnormality of the skele HP:0100414 Complete duplication of the proximal phalanx of the 4th toeAbnormality of the skele HP:0009993 Complete duplication of the proximal phalanx ofAbnormality of the skele HP:0100415 Complete duplication of the proximal phalanx ofAbnormality of the skele HP:0010094 Complete duplication of the proximal phalanx ofAbnormality of the skele HP:0009943 Complete duplication of thumb phalanxAbnormality of the skele HP:0007602 Complex palmar dermatoglyphic patternAbnormality of the skele HP:0008789 Cone-shaped capital femoral epiphysisAbnormality of the skele HP:0005066 Cone-shaped epiphyses fused within their metaphysesAbnormality of the skele HP:0006035 Cone-shaped epiphyses of phalanges 2 to 5Abnormality of the skele HP:0009490 Cone-shaped epiphyses of the 2nd fingerAbnormality of the skele HP:0100046 Cone-shaped epiphyses of the 2nd toeAbnormality of the skele HP:0009412 Cone-shaped epiphyses of the 3rd fingerAbnormality of the skele HP:0100057 Cone-shaped epiphyses of the 3rd toeAbnormality of the skele HP:0009395 Cone-shaped epiphyses of the 4th fingerAbnormality of the skele HP:0100068 Cone-shaped epiphyses of the 4th toeAbnormality of the skele HP:0009384 Cone-shaped epiphyses of the 5th fingerAbnormality of the skele HP:0100079 Cone-shaped epiphyses of the 5th toe

Abnormality of the skele HP:0010248 Cone-shaped epiphyses of the distal phalanges of the handAbnormality of the skele HP:0010115 Cone-shaped epiphyses of the halluxAbnormality of the skele HP:0010259 Cone-shaped epiphyses of the middle phalanges of the handAbnormality of the skele HP:0010230 Cone-shaped epiphyses of the phalanges of thAbnormality of the skele HP:0010270 Cone-shaped epiphyses of the proximal phalanges of the handAbnormality of the skele HP:0010164 Cone-shaped epiphyses of the toesAbnormality of the skele HP:0010579 Cone-shaped epiphysisAbnormality of the skele HP:0010017 Cone-shaped epiphysis of the 1st metacarpalAbnormality of the skele HP:0010151 Cone-shaped epiphysis of the 1st metatarsalAbnormality of the skele HP:0009504 Cone-shaped epiphysis of the distal phalanx of Abnormality of the skele HP:0100102 Cone-shaped epiphysis of the distal phalanx of the 2nd toeAbnormality of the skele HP:0009337 Cone-shaped epiphysis of the distal phalanx of Abnormality of the skele HP:0100137 Cone-shaped epiphysis of the distal phalanx of the 3rd toeAbnormality of the skele HP:0009252 Cone-shaped epiphysis of the distal phalanx of Abnormality of the skele HP:0100171 Cone-shaped epiphysis of the distal phalanx of the 4th toeAbnormality of the skele HP:0004222 Cone-shaped epiphysis of the distal phalanx of Abnormality of the skele HP:0100204 Cone-shaped epiphysis of the distal phalanx of the 5th toeAbnormality of the skele HP:0010140 Cone-shaped epiphysis of the distal phalanx of the halluxAbnormality of the skele HP:0009677 Cone-shaped epiphysis of the distal phalanx ofAbnormality of the skele HP:0009515 Cone-shaped epiphysis of the middle phalanx of the 2nd fingerAbnormality of the skele HP:0100113 Cone-shaped epiphysis of the middle phalanx of the 2nd toeAbnormality of the skele HP:0009323 Cone-shaped epiphysis of the middle phalanx ofAbnormality of the skele HP:0100148 Cone-shaped epiphysis of the middle phalanx of the 3rd toeAbnormality of the skele HP:0009216 Cone-shaped epiphysis of the middle phalanx ofAbnormality of the skele HP:0100182 Cone-shaped epiphysis of the middle phalanx of the 4th toeAbnormality of the skele HP:0009205 Cone-shaped epiphysis of the middle phalanx ofAbnormality of the skele HP:0100215 Cone-shaped epiphysis of the middle phalanx of the 5th toeAbnormality of the skele HP:0009526 Cone-shaped epiphysis of the proximal phalanx of the 2nd fingerAbnormality of the skele HP:0100124 Cone-shaped epiphysis of the proximal phalanx of the 2nd toeAbnormality of the skele HP:0009348 Cone-shaped epiphysis of the proximal phalanx Abnormality of the skele HP:0100159 Cone-shaped epiphysis of the proximal phalanx of the 3rd toeAbnormality of the skele HP:0009263 Cone-shaped epiphysis of the proximal phalanx Abnormality of the skele HP:0100193 Cone-shaped epiphysis of the proximal phalanx of the 4th toeAbnormality of the skele HP:0009155 Cone-shaped epiphysis of the proximal phalanx Abnormality of the skele HP:0100226 Cone-shaped epiphysis of the proximal phalanx of the 5th toeAbnormality of the skele HP:0010129 Cone-shaped epiphysis of the proximal phalanx of the halluxAbnormality of the skele HP:0009666 Cone-shaped epiphysis of the proximal phalanxAbnormality of the skele HP:0009688 Cone-shaped epiphysis of the thumbAbnormality of the skele HP:0006059 Cone-shaped metacarpal epiphysesAbnormality of the skele HP:0008780 Congenital bilateral hip dislocationAbnormality of the skele HP:0002803 Congenital contractureAbnormality of the skele HP:0005879 Congenital finger flexion contracturesAbnormality of the skele HP:0005853 Congenital foot contraction deformitiesAbnormality of the skele HP:0005745 Congenital foot contracturesAbnormality of the skele HP:0001374 Congenital hip dislocationAbnormality of the skele HP:0005191 Congenital knee dislocationAbnormality of the skele HP:0008453 Congenital kyphoscoliosisAbnormality of the skele HP:0006647 Congenital microthoraxAbnormality of the skele HP:0007545 Congenital palmoplantar keratosisAbnormality of the skele HP:0006585 Congenital pseudarthrosis of the clavicle

Abnormality of the skele HP:0007553 Congenital symmetrical palmoplantar keratosisAbnormality of the skele HP:0005850 Congenital talipes calcaneovalgusAbnormality of the skele HP:0003277 Constricted iliac wingsAbnormality of the skele HP:0003998 Constricted radial neckAbnormality of the skele HP:0003976 Constricted radiusAbnormality of the skele HP:0009538 Contracture of the distal interphalangeal joint oAbnormality of the skele HP:0100352 Contracture of the distal interphalangeal joint oAbnormality of the skele HP:0009469 Contracture of the distal interphalangeal joint ofAbnormality of the skele HP:0100353 Contracture of the distal interphalangeal joint oAbnormality of the skele HP:0009275 Contracture of the distal interphalangeal joint ofAbnormality of the skele HP:0100354 Contracture of the distal interphalangeal joint ofAbnormality of the skele HP:0009184 Contracture of the distal interphalangeal joint ofAbnormality of the skele HP:0009697 Contracture of the distal interphalangeal joints oAbnormality of the skele HP:0010214 Contracture of the interphalangeal joint of the hAbnormality of the skele HP:0009539 Contracture of the metacarpophalangeal joint ofAbnormality of the skele HP:0009470 Contracture of the metacarpophalangeal joint ofAbnormality of the skele HP:0009277 Contracture of the metacarpophalangeal joint ofAbnormality of the skele HP:0009186 Contracture of the metacarpophalangeal joint ofAbnormality of the skele HP:0100356 Contracture of the metatarsophalangeal joint ofAbnormality of the skele HP:0100357 Contracture of the metatarsophalangeal joint ofAbnormality of the skele HP:0100358 Contracture of the metatarsophalangeal joint ofAbnormality of the skele HP:0100359 Contracture of the metatarsophalangeal joint ofAbnormality of the skele HP:0009540 Contracture of the proximal interphalangeal joinAbnormality of the skele HP:0100348 Contracture of the proximal interphalangeal joinAbnormality of the skele HP:0009471 Contracture of the proximal interphalangeal jointAbnormality of the skele HP:0100349 Contracture of the proximal interphalangeal joinAbnormality of the skele HP:0009276 Contracture of the proximal interphalangeal jointAbnormality of the skele HP:0100350 Contracture of the proximal interphalangeal joinAbnormality of the skele HP:0009185 Contracture of the proximal interphalangeal jointAbnormality of the skele HP:0010213 Contracture of the tarsometatarsal joint of the hAbnormality of the skele HP:0008366 Contractures involving the joints of the feetAbnormality of the skele HP:0009624 Contractures of the carpometacarpal joint of tAbnormality of the skele HP:0100355 Contractures of the distal interphalangeal joint Abnormality of the skele HP:0009626 Contractures of the interphalangeal joint of theAbnormality of the skele HP:0005750 Contractures of the joints of the lower limbsAbnormality of the skele HP:0100360 Contractures of the joints of the upper limbsAbnormality of the skele HP:0005781 Contractures of the large jointsAbnormality of the skele HP:0009625 Contractures of the metacarpophalangeal joint Abnormality of the skele HP:0010215 Contractures of the metatarsophalangeal joint oAbnormality of the skele HP:0100351 Contractures of the proximal interphalangeal joiAbnormality of the skele HP:0004040 Corner fragments of ulnar metaphysisAbnormality of the skele HP:0003908 Corner spurs (humeral metaphyses)Abnormality of the skele HP:0003417 Coronal cleft vertebraeAbnormality of the skele HP:0001717 Coronary artery calcificationAbnormality of the skele HP:0003858 Cortical diaphyseal irregularity of the upper limbsAbnormality of the skele HP:0003859 Cortical diaphyseal thickening of the upper limbsAbnormality of the skele HP:0005731 Cortical irregularityAbnormality of the skele HP:0003867 Cortical irregularity (humeral)Abnormality of the skele HP:0003927 Cortical irregularity of humeral diaphysisAbnormality of the skele HP:0005652 Cortical sclerosis

Abnormality of the skele HP:0003909 Cortical subperiosteal resorption (humeral metaphyses)Abnormality of the skele HP:0003868 Cortical thickening (humeral)Abnormality of the skele HP:0004271 Cortical thickening of hand bonesAbnormality of the skele HP:0003928 Cortical thickening of humeral diaphysisAbnormality of the skele HP:0005791 Cortical thickening of long bone diaphysesAbnormality of the skele HP:0003957 Cortical thickening of the forearm bonesAbnormality of the skele HP:0003869 Cortical thinning (humeral)Abnormality of the skele HP:0004272 Cortical thinning of hand bonesAbnormality of the skele HP:0006415 Cortically dense long tubular bonesAbnormality of the skele HP:0006646 Costal cartilage calcificationAbnormality of the skele HP:0006623 Costochondral joint sclerosisAbnormality of the skele HP:0006649 Costochondral painAbnormality of the skele HP:0003279 Coxa magnaAbnormality of the skele HP:0002673 Coxa valgaAbnormality of the skele HP:0002812 Coxa varaAbnormality of the skele HP:0005464 Craniofacial osteosclerosisAbnormality of the skele HP:0003958 Cross-fusion of the forearm bonesAbnormality of the skele HP:0006180 Crowded carpal bonesAbnormality of the skele HP:0003870 Crumpled humerusAbnormality of the skele HP:0006367 Crumpled long bonesAbnormality of the skele HP:0002967 Cubitus valgusAbnormality of the skele HP:0008425 Cuboid-shaped thoracolumbar vertebral bodiesAbnormality of the skele HP:0004634 Cuboid-shaped vertebral bodiesAbnormality of the skele HP:0006011 Cuboidal metacarpalAbnormality of the skele HP:0004273 Cupped metaphyses of hand bonesAbnormality of the skele HP:0003848 Cupped metaphyses of the upper limbsAbnormality of the skele HP:0004016 Cupped radial metaphysesAbnormality of the skele HP:0000887 Cupped ribsAbnormality of the skele HP:0004041 Cupped ulnar metaphysisAbnormality of the skele HP:0010029 Curved 1st metacarpalAbnormality of the skele HP:0010070 Curved 1st metatarsalAbnormality of the skele HP:0010350 Curved 2nd toe phalanxAbnormality of the skele HP:0010362 Curved 3rd toe phalanxAbnormality of the skele HP:0010374 Curved 4th toe phalanxAbnormality of the skele HP:0010386 Curved 5th toe phalanxAbnormality of the skele HP:0009838 Curved distal phalanges of the handAbnormality of the skele HP:0009560 Curved distal phalanx of the 2nd fingerAbnormality of the skele HP:0010416 Curved distal phalanx of the 2nd toeAbnormality of the skele HP:0009428 Curved distal phalanx of the 3rd fingerAbnormality of the skele HP:0100449 Curved distal phalanx of the 3rd toeAbnormality of the skele HP:0009286 Curved distal phalanx of the 4th fingerAbnormality of the skele HP:0100450 Curved distal phalanx of the 4th toeAbnormality of the skele HP:0004226 Curved distal phalanx of the 5th fingerAbnormality of the skele HP:0100451 Curved distal phalanx of the 5th toeAbnormality of the skele HP:0010079 Curved distal phalanx of the halluxAbnormality of the skele HP:0009644 Curved distal phalanx of the thumbAbnormality of the skele HP:0010188 Curved distal toe phalanxAbnormality of the skele HP:0004095 Curved fingersAbnormality of the skele HP:0010061 Curved hallux phalanxAbnormality of the skele HP:0009846 Curved middle phalanges of the hand

Abnormality of the skele HP:0009571 Curved middle phalanx of the 2nd fingerAbnormality of the skele HP:0010407 Curved middle phalanx of the 2nd toeAbnormality of the skele HP:0009432 Curved middle phalanx of the 3rd fingerAbnormality of the skele HP:0100443 Curved middle phalanx of the 3rd toeAbnormality of the skele HP:0009287 Curved middle phalanx of the 4th fingerAbnormality of the skele HP:0100444 Curved middle phalanx of the 4th toeAbnormality of the skele HP:0009173 Curved middle phalanx of the 5th fingerAbnormality of the skele HP:0100445 Curved middle phalanx of the 5th toeAbnormality of the skele HP:0010197 Curved middle toe phalanxAbnormality of the skele HP:0004033 Curved olecranonAbnormality of the skele HP:0009549 Curved phalanges of the 2nd fingerAbnormality of the skele HP:0009442 Curved phalanges of the 3rd fingerAbnormality of the skele HP:0009285 Curved phalanges of the 4th fingerAbnormality of the skele HP:0004214 Curved phalanges of the 5th fingerAbnormality of the skele HP:0009770 Curved phalanges of the handAbnormality of the skele HP:0009854 Curved proximal phalanges of the handAbnormality of the skele HP:0009583 Curved proximal phalanx of the 2nd fingerAbnormality of the skele HP:0010398 Curved proximal phalanx of the 2nd toeAbnormality of the skele HP:0009452 Curved proximal phalanx of the 3rd fingerAbnormality of the skele HP:0100446 Curved proximal phalanx of the 3rd toeAbnormality of the skele HP:0009288 Curved proximal phalanx of the 4th fingerAbnormality of the skele HP:0100447 Curved proximal phalanx of the 4th toeAbnormality of the skele HP:0009229 Curved proximal phalanx of the 5th fingerAbnormality of the skele HP:0100448 Curved proximal phalanx of the 5th toeAbnormality of the skele HP:0010088 Curved proximal phalanx of the halluxAbnormality of the skele HP:0009632 Curved proximal phalanx of the thumbAbnormality of the skele HP:0010206 Curved proximal toe phalanxAbnormality of the skele HP:0009653 Curved thumb phalanxAbnormality of the skele HP:0010176 Curved toe phalanxAbnormality of the skele HP:0010554 Cutaneous finger syndactylyAbnormality of the skele HP:0012725 Cutaneous syndactylyAbnormality of the skele HP:0005650 Cutaneous syndactyly between fingers 2 and 5Abnormality of the skele HP:0010621 Cutaneous syndactyly of toesAbnormality of the skele HP:0002833 Cystic angiomatosis of boneAbnormality of the skele HP:0005638 Decreased anterioposterior diameter of lumbar vertebral bodiesAbnormality of the skele HP:0004049 Decreased carpal angles of wristAbnormality of the skele HP:0004631 Decreased cervical spine flexion due to contractures of posterior cervical musclesAbnormality of the skele HP:0004637 Decreased cervical spine mobilityAbnormality of the skele HP:0006135 Decreased finger mobilityAbnormality of the skele HP:0003184 Decreased hip abductionAbnormality of the skele HP:0006169 Decreased mobility 3rd-5th fingersAbnormality of the skele HP:0006203 Decreased movement range in interphalangeal jointsAbnormality of the skele HP:0006611 Decreased number of sternal ossification centeAbnormality of the skele HP:0006184 Decreased palmar creasesAbnormality of the skele HP:0006191 Deep palmar creaseAbnormality of the skele HP:0004274 Deficient ossification of hand bonesAbnormality of the skele HP:0003959 Deformed forearm bonesAbnormality of the skele HP:0005687 Deformed humeral headsAbnormality of the skele HP:0003871 Deformed humerusAbnormality of the skele HP:0003977 Deformed radius

Abnormality of the skele HP:0000886 Deformed rib cageAbnormality of the skele HP:0008119 Deformed tarsal bonesAbnormality of the skele HP:0001379 Degenerative joint diseaseAbnormality of the skele HP:0008142 Delayed calcaneal ossificationAbnormality of the skele HP:0003947 Delayed elbow epiphyseal ossificationAbnormality of the skele HP:0002663 Delayed epiphyseal ossificationAbnormality of the skele HP:0008829 Delayed femoral head ossificationAbnormality of the skele HP:0003894 Delayed humeral epiphyseal ossificationAbnormality of the skele HP:0001216 Delayed ossification of carpal bonesAbnormality of the skele HP:0008785 Delayed ossification of pubic ramiAbnormality of the skele HP:0004052 Delayed ossification of the hand bonesAbnormality of the skele HP:0004246 Delayed ossification of the scaphoidAbnormality of the skele HP:0004254 Delayed ossification of the trapeziumAbnormality of the skele HP:0004257 Delayed ossification of the trapezoid boneAbnormality of the skele HP:0012711 Delayed ossification of vertebral epiphysisAbnormality of the skele HP:0006454 Delayed patellar ossificationAbnormality of the skele HP:0006016 Delayed phalangeal epiphyseal ossificationAbnormality of the skele HP:0008828 Delayed proximal femoral epiphyseal ossificatiAbnormality of the skele HP:0008788 Delayed pubic bone ossificationAbnormality of the skele HP:0002750 Delayed skeletal maturationAbnormality of the skele HP:0011836 Delayed talus ossificationAbnormality of the skele HP:0008103 Delayed tarsal ossificationAbnormality of the skele HP:0003840 Delayed upper limb epiphyseal ossificationAbnormality of the skele HP:0100959 Dense metaphyseal bandsAbnormality of the skele HP:0005689 Dermatoglyphic ridges abnormalAbnormality of the skele HP:0005882 Dermatoglyphic variantsAbnormality of the skele HP:0004097 Deviation of fingerAbnormality of the skele HP:0009468 Deviation of the 2nd fingerAbnormality of the skele HP:0009317 Deviation of the 3rd fingerAbnormality of the skele HP:0009273 Deviation of the 4th fingerAbnormality of the skele HP:0009179 Deviation of the 5th fingerAbnormality of the skele HP:0009484 Deviation of the hand or of fingers of the handAbnormality of the skele HP:0100498 Deviation of toesAbnormality of the skele HP:0010326 Deviation/Displacement of the 2nd toeAbnormality of the skele HP:0010332 Deviation/Displacement of the 3rd toeAbnormality of the skele HP:0010338 Deviation/Displacement of the 4th toeAbnormality of the skele HP:0010344 Deviation/Displacement of the 5th toeAbnormality of the skele HP:0010051 Deviation/Displacement of the halluxAbnormality of the skele HP:0009603 Deviation/Displacement of the thumbAbnormality of the skele HP:0005045 Diaphyseal cortical sclerosisAbnormality of the skele HP:0100252 Diaphyseal dysplasiaAbnormality of the skele HP:0003034 Diaphyseal sclerosisAbnormality of the skele HP:0003860 Diaphyseal sclerosis of the upper limbsAbnormality of the skele HP:0005019 Diaphyseal thickeningAbnormality of the skele HP:0007447 Diffuse palmoplantar hyperkeratosisAbnormality of the skele HP:0012276 Digital flexor tenosynovitisAbnormality of the skele HP:0004591 Disc-like vertebral bodiesAbnormality of the skele HP:0006153 Disharmonious carpal boneAbnormality of the skele HP:0003083 Dislocated radial headAbnormality of the skele HP:0003994 Dislocated wrist

Abnormality of the skele HP:0008826 Dislocation of the femoral headAbnormality of the skele HP:0008141 Dislocation of toesAbnormality of the skele HP:0006437 Disproportionate prominence of the femoral medial condyleAbnormality of the skele HP:0003521 Disproportionate short-trunk short statureAbnormality of the skele HP:0005766 Disproportionate shortening of the tibiaAbnormality of the skele HP:0005684 Distal arthrogryposisAbnormality of the skele HP:0005096 Distal femoral bowingAbnormality of the skele HP:0006449 Distal radial epiphyseal osteolysisAbnormality of the skele HP:0006402 Distal shortening of limbsAbnormality of the skele HP:0100263 Distal symphalangismAbnormality of the skele HP:0001859 Distal symphalangism (feet)Abnormality of the skele HP:0001204 Distal symphalangism (hands)Abnormality of the skele HP:0006408 Distal tapering femurAbnormality of the skele HP:0008133 Distal tapering of metatarsalsAbnormality of the skele HP:0006414 Distal tibial bowingAbnormality of the skele HP:0006370 Distal ulnar epiphyseal stipplingAbnormality of the skele HP:0005033 Distal ulnar hypoplasiaAbnormality of the skele HP:0007149 Distal upper limb amyotrophyAbnormality of the skele HP:0006048 Distal widening of metacarpalsAbnormality of the skele HP:0009563 Distal/middle symphalangism of 2nd fingerAbnormality of the skele HP:0009426 Distal/middle symphalangism of 3rd fingerAbnormality of the skele HP:0009305 Distal/middle symphalangism of 4th fingerAbnormality of the skele HP:0009244 Distal/middle symphalangism of 5th fingerAbnormality of the skele HP:0009622 Distally placed thumbAbnormality of the skele HP:0006459 Dorsal subluxation of ulnaAbnormality of the skele HP:0005894 Double first metacarpalsAbnormality of the skele HP:0200021 Down-sloping shouldersAbnormality of the skele HP:0006129 Drumstick terminal phalangesAbnormality of the skele HP:0006375 Dumbbell-shaped femurAbnormality of the skele HP:0005009 Dumbbell-shaped humerusAbnormality of the skele HP:0000947 Dumbbell-shaped long boneAbnormality of the skele HP:0002810 Dumbbell-shaped metaphysesAbnormality of the skele HP:0009136 Duplication involving bones of the feetAbnormality of the skele HP:0009142 Duplication of bones involving the upper extremitiesAbnormality of the skele HP:0010193 Duplication of distal phalanx of toeAbnormality of the skele HP:0004275 Duplication of hand bonesAbnormality of the skele HP:0001449 Duplication of metatarsal bonesAbnormality of the skele HP:0010202 Duplication of middle phalanx of toeAbnormality of the skele HP:0009945 Duplication of phalanx of 2nd fingerAbnormality of the skele HP:0009959 Duplication of phalanx of 3rd fingerAbnormality of the skele HP:0009972 Duplication of phalanx of 4th fingerAbnormality of the skele HP:0009985 Duplication of phalanx of 5th fingerAbnormality of the skele HP:0010066 Duplication of phalanx of halluxAbnormality of the skele HP:0009997 Duplication of phalanx of handAbnormality of the skele HP:0010367 Duplication of phalanx of the 3rd toeAbnormality of the skele HP:0010379 Duplication of phalanx of the 4th toeAbnormality of the skele HP:0010181 Duplication of phalanx of toeAbnormality of the skele HP:0010211 Duplication of proximal phalanx of toeAbnormality of the skele HP:0009609 Duplication of the 1st metacarpalAbnormality of the skele HP:0010075 Duplication of the 1st metatarsal

Abnormality of the skele HP:0009883 Duplication of the distal phalanx of handAbnormality of the skele HP:0009948 Duplication of the distal phalanx of the 2nd fingAbnormality of the skele HP:0010421 Duplication of the distal phalanx of the 2nd toeAbnormality of the skele HP:0009962 Duplication of the distal phalanx of the 3rd fingAbnormality of the skele HP:0100398 Duplication of the distal phalanx of the 3rd toeAbnormality of the skele HP:0009975 Duplication of the distal phalanx of the 4th fingeAbnormality of the skele HP:0100399 Duplication of the distal phalanx of the 4th toeAbnormality of the skele HP:0009988 Duplication of the distal phalanx of the 5th fingeAbnormality of the skele HP:0100400 Duplication of the distal phalanx of the 5th toeAbnormality of the skele HP:0010084 Duplication of the distal phalanx of the halluxAbnormality of the skele HP:0009612 Duplication of the distal phalanx of the thumbAbnormality of the skele HP:0010008 Duplication of the middle phalanx of handAbnormality of the skele HP:0009949 Duplication of the middle phalanx of the 2nd finAbnormality of the skele HP:0010412 Duplication of the middle phalanx of the 2nd toAbnormality of the skele HP:0009963 Duplication of the middle phalanx of the 3rd finAbnormality of the skele HP:0100401 Duplication of the middle phalanx of the 3rd toeAbnormality of the skele HP:0009976 Duplication of the middle phalanx of the 4th finAbnormality of the skele HP:0100402 Duplication of the middle phalanx of the 4th toeAbnormality of the skele HP:0009989 Duplication of the middle phalanx of the 5th finAbnormality of the skele HP:0100403 Duplication of the middle phalanx of the 5th toeAbnormality of the skele HP:0010355 Duplication of the phalanges of the 2nd toeAbnormality of the skele HP:0010391 Duplication of the phalanges of the 5th toeAbnormality of the skele HP:0010006 Duplication of the proximal phalanx of handAbnormality of the skele HP:0009947 Duplication of the proximal phalanx of the 2nd fAbnormality of the skele HP:0010403 Duplication of the proximal phalanx of the 2nd Abnormality of the skele HP:0009964 Duplication of the proximal phalanx of the 3rd fAbnormality of the skele HP:0100404 Duplication of the proximal phalanx of the 3rd tAbnormality of the skele HP:0009977 Duplication of the proximal phalanx of the 4th fAbnormality of the skele HP:0100405 Duplication of the proximal phalanx of the 4th tAbnormality of the skele HP:0009990 Duplication of the proximal phalanx of the 5th fAbnormality of the skele HP:0100406 Duplication of the proximal phalanx of the 5th tAbnormality of the skele HP:0010093 Duplication of the proximal phalanx of the halluAbnormality of the skele HP:0009613 Duplication of the proximal phalanx of the thumAbnormality of the skele HP:0009942 Duplication of thumb phalanxAbnormality of the skele HP:0005679 Dupuytren contractureAbnormality of the skele HP:0200001 Dysharmonic accelerated bone ageAbnormality of the skele HP:0200000 Dysharmonic bone ageAbnormality of the skele HP:0005832 Dysharmonic delayed bone ageAbnormality of the skele HP:0004053 Dysharmonic maturation of the hand bonesAbnormality of the skele HP:0000943 Dysostosis multiplexAbnormality of the skele HP:0004589 Dysplasia of second lumbar vertebraAbnormality of the skele HP:0010575 Dysplasia of the femoral headAbnormality of the skele HP:0005013 Dysplastic distal radial epiphysesAbnormality of the skele HP:0005688 Dysplastic distal thumb phalanges with a central holeAbnormality of the skele HP:0008794 Dysplastic iliac wingsAbnormality of the skele HP:0006446 Dysplastic patellaAbnormality of the skele HP:0006433 Dysplastic radiiAbnormality of the skele HP:0008455 Dysplastic sacrumAbnormality of the skele HP:0008797 Early ossification of capital femoral epiphysesAbnormality of the skele HP:0006694 Early progressive calcific cardiac valvular disease

Abnormality of the skele HP:0005747 Easily subluxated first metacarpophalangeal jointsAbnormality of the skele HP:0010441 Ectopic accesory finger-like appendageAbnormality of the skele HP:0010440 Ectopic accesory toe-like appendageAbnormality of the skele HP:0010766 Ectopic calcificationAbnormality of the skele HP:0011986 Ectopic ossificationAbnormality of the skele HP:0011989 Ectopic ossification in ligament tissueAbnormality of the skele HP:0011987 Ectopic ossification in muscle tissueAbnormality of the skele HP:0011988 Ectopic ossification in tendon tissueAbnormality of the skele HP:0100241 Ectopic respiratory mucosaAbnormality of the skele HP:0100257 EctrodactylyAbnormality of the skele HP:0003070 Elbow ankylosisAbnormality of the skele HP:0003042 Elbow dislocationAbnormality of the skele HP:0002987 Elbow flexion contractureAbnormality of the skele HP:0006424 Elongated radiusAbnormality of the skele HP:0010580 Enlarged epiphysesAbnormality of the skele HP:0009491 Enlarged epiphyses of the 2nd fingerAbnormality of the skele HP:0100047 Enlarged epiphyses of the 2nd toeAbnormality of the skele HP:0009413 Enlarged epiphyses of the 3rd fingerAbnormality of the skele HP:0100058 Enlarged epiphyses of the 3rd toeAbnormality of the skele HP:0009396 Enlarged epiphyses of the 4th fingerAbnormality of the skele HP:0100069 Enlarged epiphyses of the 4th toeAbnormality of the skele HP:0009385 Enlarged epiphyses of the 5th fingerAbnormality of the skele HP:0100080 Enlarged epiphyses of the 5th toeAbnormality of the skele HP:0010249 Enlarged epiphyses of the distal phalanges of the handAbnormality of the skele HP:0010116 Enlarged epiphyses of the halluxAbnormality of the skele HP:0010260 Enlarged epiphyses of the middle phalanges of the handAbnormality of the skele HP:0010231 Enlarged epiphyses of the phalanges of the haAbnormality of the skele HP:0010271 Enlarged epiphyses of the proximal phalanges of the handAbnormality of the skele HP:0010165 Enlarged epiphyses of the toesAbnormality of the skele HP:0010018 Enlarged epiphysis of the 1st metacarpalAbnormality of the skele HP:0010152 Enlarged epiphysis of the 1st metatarsalAbnormality of the skele HP:0009505 Enlarged epiphysis of the distal phalanx of the Abnormality of the skele HP:0100103 Enlarged epiphysis of the distal phalanx of the 2nd toeAbnormality of the skele HP:0009338 Enlarged epiphysis of the distal phalanx of the Abnormality of the skele HP:0100138 Enlarged epiphysis of the distal phalanx of the 3rd toeAbnormality of the skele HP:0009253 Enlarged epiphysis of the distal phalanx of the Abnormality of the skele HP:0100172 Enlarged epiphysis of the distal phalanx of the 4th toeAbnormality of the skele HP:0009147 Enlarged epiphysis of the distal phalanx of the Abnormality of the skele HP:0100205 Enlarged epiphysis of the distal phalanx of the 5th toeAbnormality of the skele HP:0010141 Enlarged epiphysis of the distal phalanx of the halluxAbnormality of the skele HP:0009678 Enlarged epiphysis of the distal phalanx of theAbnormality of the skele HP:0009516 Enlarged epiphysis of the middle phalanx of the 2nd fingerAbnormality of the skele HP:0100114 Enlarged epiphysis of the middle phalanx of the 2nd toeAbnormality of the skele HP:0009324 Enlarged epiphysis of the middle phalanx of theAbnormality of the skele HP:0100149 Enlarged epiphysis of the middle phalanx of the 3rd toeAbnormality of the skele HP:0009217 Enlarged epiphysis of the middle phalanx of theAbnormality of the skele HP:0100183 Enlarged epiphysis of the middle phalanx of the 4th toeAbnormality of the skele HP:0009206 Enlarged epiphysis of the middle phalanx of theAbnormality of the skele HP:0100216 Enlarged epiphysis of the middle phalanx of the 5th toeAbnormality of the skele HP:0009527 Enlarged epiphysis of the proximal phalanx of the 2nd finger

Abnormality of the skele HP:0100125 Enlarged epiphysis of the proximal phalanx of the 2nd toeAbnormality of the skele HP:0009349 Enlarged epiphysis of the proximal phalanx of tAbnormality of the skele HP:0100160 Enlarged epiphysis of the proximal phalanx of the 3rd toeAbnormality of the skele HP:0009264 Enlarged epiphysis of the proximal phalanx of tAbnormality of the skele HP:0100194 Enlarged epiphysis of the proximal phalanx of the 4th toeAbnormality of the skele HP:0009158 Enlarged epiphysis of the proximal phalanx of tAbnormality of the skele HP:0100227 Enlarged epiphysis of the proximal phalanx of the 5th toeAbnormality of the skele HP:0010130 Enlarged epiphysis of the proximal phalanx of the halluxAbnormality of the skele HP:0009667 Enlarged epiphysis of the proximal phalanx of Abnormality of the skele HP:0003910 Enlarged humeral metaphysesAbnormality of the skele HP:0006247 Enlarged interphalangeal jointsAbnormality of the skele HP:0003037 Enlarged jointsAbnormality of the skele HP:0006134 Enlarged metacarpal epiphysesAbnormality of the skele HP:0006163 Enlarged metacarpophalangeal jointsAbnormality of the skele HP:0003051 Enlarged metaphysesAbnormality of the skele HP:0006185 Enlarged proximal interphalangeal jointsAbnormality of the skele HP:0005878 Enlarged sagittal diameter of the cervical canalAbnormality of the skele HP:0100625 Enlarged thoraxAbnormality of the skele HP:0009689 Enlarged thumb epiphysisAbnormality of the skele HP:0004621 Enlarged vertebral pediclesAbnormality of the skele HP:0003029 Enlargement of the anklesAbnormality of the skele HP:0000920 Enlargement of the costochondral junctionAbnormality of the skele HP:0006438 Enlargement of the distal femoral epiphysisAbnormality of the skele HP:0003371 Enlargement of the proximal femoral epiphysisAbnormality of the skele HP:0003020 Enlargement of the wristsAbnormality of the skele HP:0003053 Epiphyseal deformities of tubular bonesAbnormality of the skele HP:0002656 Epiphyseal dysplasiaAbnormality of the skele HP:0010655 Epiphyseal stipplingAbnormality of the skele HP:0010237 Epiphyseal stippling of finger phalangesAbnormality of the skele HP:0010024 Epiphyseal stippling of the first metacarpalAbnormality of the skele HP:0003902 Epiphyseal stippling of the humerusAbnormality of the skele HP:0009195 Epiphyseal stippling of the metacarpalsAbnormality of the skele HP:0010171 Epiphyseal stippling of toe phalangesAbnormality of the skele HP:0004990 Epiphyseal streakingAbnormality of the skele HP:0008110 Equinovarus deformityAbnormality of the skele HP:0008138 Equinus calcaneusAbnormality of the skele HP:0004975 Erlenmeyer flask deformity of the femursAbnormality of the skele HP:0012427 Excessive femoral anteversionAbnormality of the skele HP:0100777 ExostosesAbnormality of the skele HP:0003872 Exostoses (humeral)Abnormality of the skele HP:0004276 Exostoses of hand bonesAbnormality of the skele HP:0003960 Exostoses of the forearm bonesAbnormality of the skele HP:0004017 Exostoses of the radial metaphysisAbnormality of the skele HP:0003986 Exostoses of the radiusAbnormality of the skele HP:0003985 Exostoses of the ulnaAbnormality of the skele HP:0006232 Expanded metacarpals with widened medullary cavitiesAbnormality of the skele HP:0008102 Expanded metatarsals with widened medullary cavitiesAbnormality of the skele HP:0006112 Expanded phalanges with widened medullary cavitiesAbnormality of the skele HP:0008796 Externally rotated hipsAbnormality of the skele HP:0003783 Externally rotated/abducted legs

Abnormality of the skele HP:0012744 Femoral aplasiaAbnormality of the skele HP:0002980 Femoral bowingAbnormality of the skele HP:0005005 Femoral bowing present at birth, straightening Abnormality of the skele HP:0010734 Fibrous dysplasia of the bonesAbnormality of the skele HP:0002990 Fibular aplasiaAbnormality of the skele HP:0010502 Fibular bowingAbnormality of the skele HP:0100344 Fibular deviation of the 2nd toeAbnormality of the skele HP:0100342 Fibular deviation of the 3rd toeAbnormality of the skele HP:0100340 Fibular deviation of the 4th toeAbnormality of the skele HP:0100346 Fibular deviation of the 5th toeAbnormality of the skele HP:0100500 Fibular deviation of toesAbnormality of the skele HP:0010503 Fibular duplicationAbnormality of the skele HP:0003038 Fibular hypoplasiaAbnormality of the skele HP:0003099 Fibular overgrowthAbnormality of the skele HP:0005769 Fifth finger distal phalanx clinodactylyAbnormality of the skele HP:0005900 Fifth metacarpal with ulnar notchAbnormality of the skele HP:0001864 Fifth toe clinodactylyAbnormality of the skele HP:0006158 Finger joint hyperextensibilityAbnormality of the skele HP:0006094 Finger joint hypermobilityAbnormality of the skele HP:0006101 Finger syndactylyAbnormality of the skele HP:0006471 Fixed elbow flexionAbnormality of the skele HP:0002834 Flared femoral metaphysisAbnormality of the skele HP:0003911 Flared humeral metaphysisAbnormality of the skele HP:0002869 Flared iliac wingsAbnormality of the skele HP:0000945 Flared irregular metaphysesAbnormality of the skele HP:0003015 Flared metaphysesAbnormality of the skele HP:0003950 Flared metaphyses (elbow)Abnormality of the skele HP:0003849 Flared metaphyses of the upper limbsAbnormality of the skele HP:0004018 Flared radial metaphysesAbnormality of the skele HP:0006603 Flared, irregular rib endsAbnormality of the skele HP:0006589 Flaring of lower rib cageAbnormality of the skele HP:0000904 Flaring of rib cageAbnormality of the skele HP:0003180 Flat acetabular roofAbnormality of the skele HP:0003370 Flat capital femoral epiphysisAbnormality of the skele HP:0006398 Flat distal femoral epiphysisAbnormality of the skele HP:0000911 Flat glenoid fossaAbnormality of the skele HP:0003071 Flattened epiphysesAbnormality of the skele HP:0008812 Flattened femoral headAbnormality of the skele HP:0003895 Flattened humeral epiphysesAbnormality of the skele HP:0003888 Flattened humeral headsAbnormality of the skele HP:0005715 Flattened knee epiphysesAbnormality of the skele HP:0011909 Flattened metacarpal headsAbnormality of the skele HP:0005194 Flattened metatarsal headsAbnormality of the skele HP:0005752 Flattened moderately deformed vertebraeAbnormality of the skele HP:0005004 Flattened proximal radial epiphysesAbnormality of the skele HP:0004002 Flattened radial epiphysesAbnormality of the skele HP:0003996 Flattened radial headAbnormality of the skele HP:0006172 Flattened, squared-off epiphyses of tubular bonesAbnormality of the skele HP:0008144 Flattening of the talar domeAbnormality of the skele HP:0001371 Flexion contracture

Abnormality of the skele HP:0010333 Flexion contracture of 3rd toeAbnormality of the skele HP:0012785 Flexion contracture of fingerAbnormality of the skele HP:0009537 Flexion contracture of the 2nd fingerAbnormality of the skele HP:0010327 Flexion contracture of the 2nd toeAbnormality of the skele HP:0010339 Flexion contracture of the 4th toeAbnormality of the skele HP:0010345 Flexion contracture of the 5th toeAbnormality of the skele HP:0010212 Flexion contracture of the halluxAbnormality of the skele HP:0009600 Flexion contracture of thumbAbnormality of the skele HP:0005830 Flexion contracture of toeAbnormality of the skele HP:0008116 Flexion limitation of toesAbnormality of the skele HP:0007497 Focal friction-related palmoplantar hyperkeratoAbnormality of the skele HP:0010507 Foot asymmetryAbnormality of the skele HP:0009027 Foot dorsiflexor weaknessAbnormality of the skele HP:0001829 Foot polydactylyAbnormality of the skele HP:0006368 Forearm reduction defectsAbnormality of the skele HP:0009821 Forearm undergrowthAbnormality of the skele HP:0011918 Fourth toe clinodactylyAbnormality of the skele HP:0003961 Fractured forearm bonesAbnormality of the skele HP:0004277 Fractured hand bonesAbnormality of the skele HP:0003978 Fractured radiusAbnormality of the skele HP:0003987 Fractured ulnaAbnormality of the skele HP:0003084 Fractures of the long bonesAbnormality of the skele HP:0009492 Fragmentation of the epiphyses of the 2nd fingAbnormality of the skele HP:0100048 Fragmentation of the epiphyses of the 2nd toeAbnormality of the skele HP:0009414 Fragmentation of the epiphyses of the 3rd fingeAbnormality of the skele HP:0100059 Fragmentation of the epiphyses of the 3rd toeAbnormality of the skele HP:0009397 Fragmentation of the epiphyses of the 4th fingeAbnormality of the skele HP:0100070 Fragmentation of the epiphyses of the 4th toeAbnormality of the skele HP:0009386 Fragmentation of the epiphyses of the 5th fingeAbnormality of the skele HP:0100081 Fragmentation of the epiphyses of the 5th toeAbnormality of the skele HP:0010250 Fragmentation of the epiphyses of the distal phalanges of the handAbnormality of the skele HP:0010117 Fragmentation of the epiphyses of the halluxAbnormality of the skele HP:0010261 Fragmentation of the epiphyses of the middle Abnormality of the skele HP:0010232 Fragmentation of the epiphyses of the phalangAbnormality of the skele HP:0010272 Fragmentation of the epiphyses of the proximal phalanges of the handAbnormality of the skele HP:0010166 Fragmentation of the epiphyses of the toesAbnormality of the skele HP:0010019 Fragmentation of the epiphysis of the 1st metaAbnormality of the skele HP:0010153 Fragmentation of the epiphysis of the 1st metatarsalAbnormality of the skele HP:0009506 Fragmentation of the epiphysis of the distal phaAbnormality of the skele HP:0100104 Fragmentation of the epiphysis of the distal phalanx of the 2nd toeAbnormality of the skele HP:0009339 Fragmentation of the epiphysis of the distal phaAbnormality of the skele HP:0100139 Fragmentation of the epiphysis of the distal phalanx of the 3rd toeAbnormality of the skele HP:0009254 Fragmentation of the epiphysis of the distal phaAbnormality of the skele HP:0100173 Fragmentation of the epiphysis of the distal phalanx of the 4th toeAbnormality of the skele HP:0009166 Fragmentation of the epiphysis of the distal phaAbnormality of the skele HP:0100206 Fragmentation of the epiphysis of the distal phalanx of the 5th toeAbnormality of the skele HP:0010142 Fragmentation of the epiphysis of the distal phalanx of the halluxAbnormality of the skele HP:0009679 Fragmentation of the epiphysis of the distal phAbnormality of the skele HP:0009517 Fragmentation of the epiphysis of the middle phalanx of the 2nd fingerAbnormality of the skele HP:0100115 Fragmentation of the epiphysis of the middle phalanx of the 2nd toe

Abnormality of the skele HP:0009325 Fragmentation of the epiphysis of the middle phAbnormality of the skele HP:0100150 Fragmentation of the epiphysis of the middle phalanx of the 3rd toeAbnormality of the skele HP:0009218 Fragmentation of the epiphysis of the middle phAbnormality of the skele HP:0100184 Fragmentation of the epiphysis of the middle phalanx of the 4th toeAbnormality of the skele HP:0009207 Fragmentation of the epiphysis of the middle phAbnormality of the skele HP:0100217 Fragmentation of the epiphysis of the middle phalanx of the 5th toeAbnormality of the skele HP:0009528 Fragmentation of the epiphysis of the proximal phalanx of the 2nd fingerAbnormality of the skele HP:0100126 Fragmentation of the epiphysis of the proximal phalanx of the 2nd toeAbnormality of the skele HP:0009350 Fragmentation of the epiphysis of the proximal Abnormality of the skele HP:0100161 Fragmentation of the epiphysis of the proximal phalanx of the 3rd toeAbnormality of the skele HP:0009265 Fragmentation of the epiphysis of the proximal Abnormality of the skele HP:0100195 Fragmentation of the epiphysis of the proximal phalanx of the 4th toeAbnormality of the skele HP:0009202 Fragmentation of the epiphysis of the proximal Abnormality of the skele HP:0100228 Fragmentation of the epiphysis of the proximal phalanx of the 5th toeAbnormality of the skele HP:0010131 Fragmentation of the epiphysis of the proximal phalanx of the halluxAbnormality of the skele HP:0009668 Fragmentation of the epiphysis of the proximalAbnormality of the skele HP:0009189 Fragmentation of the metacarpal epiphysesAbnormality of the skele HP:0009690 Fragmentation of thumb epiphysisAbnormality of the skele HP:0100168 Fragmented epiphysesAbnormality of the skele HP:0003841 Fragmented epiphyses of the upper limbsAbnormality of the skele HP:0005063 Fragmented, irregular epiphysesAbnormality of the skele HP:0003912 Frayed humeral metaphysesAbnormality of the skele HP:0002949 Fused cervical vertebraeAbnormality of the skele HP:0005867 Fused fourth and fifth metacarpalsAbnormality of the skele HP:0006643 Fused sternal ossification centersAbnormality of the skele HP:0006187 Fusion of midphalangeal jointsAbnormality of the skele HP:0004940 Generalized arterial calcificationAbnormality of the skele HP:0006462 Generalized bone demineralizationAbnormality of the skele HP:0002761 Generalized joint laxityAbnormality of the skele HP:0005197 Generalized morning stiffnessAbnormality of the skele HP:0005744 Generalized osteoporosis with pathologic fracturesAbnormality of the skele HP:0005789 Generalized osteosclerosisAbnormality of the skele HP:0009028 Generalized weakness of limb musclesAbnormality of the skele HP:0002816 Genu recurvatumAbnormality of the skele HP:0002857 Genu valgumAbnormality of the skele HP:0002970 Genu varumAbnormality of the skele HP:0011847 Giant cell tumor of boneAbnormality of the skele HP:0006633 Glenoid fossa hypoplasiaAbnormality of the skele HP:0001997 GoutAbnormality of the skele HP:0001854 Gout (feet)Abnormality of the skele HP:0003929 Ground glass opacity of humeral diaphysisAbnormality of the skele HP:0002826 Halberd-shaped pelvisAbnormality of the skele HP:0001822 Hallux valgusAbnormality of the skele HP:0008080 Hallux varusAbnormality of the skele HP:0001765 HammertoeAbnormality of the skele HP:0003089 Hamstring contracturesAbnormality of the skele HP:0001188 Hand clenchingAbnormality of the skele HP:0009130 Hand muscle atrophyAbnormality of the skele HP:0001161 Hand polydactylyAbnormality of the skele HP:0012313 Heberden's node

Abnormality of the skele HP:0100556 HemiatrophyAbnormality of the skele HP:0100557 Hemiatrophy of lower limbAbnormality of the skele HP:0100558 Hemiatrophy of upper limbAbnormality of the skele HP:0001528 HemihypertrophyAbnormality of the skele HP:0100553 Hemihypertrophy of lower limbAbnormality of the skele HP:0100554 Hemihypertrophy of upper limbAbnormality of the skele HP:0200053 Hemihypotrophy of lower limbAbnormality of the skele HP:0009790 Hemisacrum (S2-S5)Abnormality of the skele HP:0002937 HemivertebraeAbnormality of the skele HP:0006559 Hepatic calcificationAbnormality of the skele HP:0008441 Herniation of intervertebral nucleiAbnormality of the skele HP:0001042 High axial triradiusAbnormality of the skele HP:0008808 High iliac wingsAbnormality of the skele HP:0003273 Hip contractureAbnormality of the skele HP:0002827 Hip dislocationAbnormality of the skele HP:0001385 Hip dysplasiaAbnormality of the skele HP:0008843 Hip osteoarthritisAbnormality of the skele HP:0001234 Hitchhiker thumbAbnormality of the skele HP:0000895 Hooked claviclesAbnormality of the skele HP:0000888 Horizontal ribsAbnormality of the skele HP:0003440 Horizontal sacrumAbnormality of the skele HP:0003881 Humeral sclerosisAbnormality of the skele HP:0003041 Humeroradial synostosisAbnormality of the skele HP:0003939 Humeroulnar synostosisAbnormality of the skele HP:0003874 Humerus varusAbnormality of the skele HP:0004603 Hyperconvex vertebral body endplatesAbnormality of the skele HP:0010485 Hyperextensibility at elbowAbnormality of the skele HP:0005072 Hyperextensibility at wristsAbnormality of the skele HP:0001187 Hyperextensibility of the finger jointsAbnormality of the skele HP:0010500 Hyperextensibility of the kneeAbnormality of the skele HP:0005639 Hyperextensible hand jointsAbnormality of the skele HP:0005722 Hyperextensible thumbAbnormality of the skele HP:0003307 HyperlordosisAbnormality of the skele HP:0006201 Hypermobility of distal interphalangeal jointsAbnormality of the skele HP:0005620 Hypermobility of interphalangeal jointsAbnormality of the skele HP:0010510 Hypermobility of toe jointsAbnormality of the skele HP:0100774 HyperostosisAbnormality of the skele HP:0002822 Hyperplasia of the femoral trochantersAbnormality of the skele HP:0006206 Hypersegmentation of proximal phalanx of secoAbnormality of the skele HP:0011929 Hypersegmentation of proximal phalanx of thirdAbnormality of the skele HP:0010496 Hypertrophy of the lower limbAbnormality of the skele HP:0010484 Hypertrophy of the upper limbAbnormality of the skele HP:0004912 Hypophosphatemic ricketsAbnormality of the skele HP:0009044 Hypoplasia of deltoid muscleAbnormality of the skele HP:0006657 Hypoplasia of first ribsAbnormality of the skele HP:0006442 Hypoplasia of proximal fibulaAbnormality of the skele HP:0006434 Hypoplasia of proximal radiusAbnormality of the skele HP:0012789 Hypoplasia of the calcaneusAbnormality of the skele HP:0003090 Hypoplasia of the capital femoral epiphysisAbnormality of the skele HP:0008802 Hypoplasia of the femoral head

Abnormality of the skele HP:0008801 Hypoplasia of the lesser trochanterAbnormality of the skele HP:0003311 Hypoplasia of the odontoid processAbnormality of the skele HP:0010746 Hypoplasia of the phalanges of the toesAbnormality of the skele HP:0002984 Hypoplasia of the radiusAbnormality of the skele HP:0003022 Hypoplasia of the ulnaAbnormality of the skele HP:0008424 Hypoplastic 5th lumbar vertebraeAbnormality of the skele HP:0003274 Hypoplastic acetabulaeAbnormality of the skele HP:0009007 Hypoplastic bicepsAbnormality of the skele HP:0008434 Hypoplastic cervical vertebraeAbnormality of the skele HP:0008447 Hypoplastic coccygeal vertebraeAbnormality of the skele HP:0005025 Hypoplastic distal humeriAbnormality of the skele HP:0006386 Hypoplastic distal radial epiphysesAbnormality of the skele HP:0006631 Hypoplastic distal segments of scapulaeAbnormality of the skele HP:0000946 Hypoplastic iliaAbnormality of the skele HP:0008824 Hypoplastic iliac bodyAbnormality of the skele HP:0002866 Hypoplastic iliac wingsAbnormality of the skele HP:0008821 Hypoplastic inferior iliaAbnormality of the skele HP:0008823 Hypoplastic inferior pubic ramiAbnormality of the skele HP:0003175 Hypoplastic ischiaAbnormality of the skele HP:0008822 Hypoplastic ischiopubic ramiAbnormality of the skele HP:0008839 Hypoplastic pelvisAbnormality of the skele HP:0003173 Hypoplastic pubic bonesAbnormality of the skele HP:0008830 Hypoplastic pubic ramiAbnormality of the skele HP:0003997 Hypoplastic radial headAbnormality of the skele HP:0008475 Hypoplastic sacral vertebraeAbnormality of the skele HP:0004590 Hypoplastic sacrumAbnormality of the skele HP:0000882 Hypoplastic scapulaeAbnormality of the skele HP:0008460 Hypoplastic spinal processesAbnormality of the skele HP:0008479 Hypoplastic vertebral bodiesAbnormality of the skele HP:0006006 Hypotrophy of the small hand musclesAbnormality of the skele HP:0008786 Iliac crest serrationAbnormality of the skele HP:0009780 Iliac hornsAbnormality of the skele HP:0005253 Increased anterioposterior diameter of thoraxAbnormality of the skele HP:0004581 Increased anterior vertebral heightAbnormality of the skele HP:0012771 Increased arm spanAbnormality of the skele HP:0005700 Increased bone density with cystic changesAbnormality of the skele HP:0011001 Increased bone mineral densityAbnormality of the skele HP:0003102 Increased carrying angleAbnormality of the skele HP:0006440 Increased density of long bone diaphysesAbnormality of the skele HP:0006392 Increased density of long bonesAbnormality of the skele HP:0005875 Increased dermatoglyphic whorlsAbnormality of the skele HP:0012107 Increased fibular diameterAbnormality of the skele HP:0006460 Increased laxity of anklesAbnormality of the skele HP:0006149 Increased laxity of fingersAbnormality of the skele HP:0010504 Increased length of the tibiaAbnormality of the skele HP:0002659 Increased susceptibility to fracturesAbnormality of the skele HP:0004570 Increased vertebral heightAbnormality of the skele HP:0007566 Index finger dermatoglyphic radial loopAbnormality of the skele HP:0011406 Infancy onset short-trunk short statureAbnormality of the skele HP:0009757 Intercrural pterygium

Abnormality of the skele HP:0006659 Internally rotated shouldersAbnormality of the skele HP:0001220 Interphalangeal joint contracture of fingerAbnormality of the skele HP:0006252 Interphalangeal joint erosionsAbnormality of the skele HP:0008419 Intervertebral disc degenerationAbnormality of the skele HP:0005645 Intervertebral disk calcificationAbnormality of the skele HP:0002945 Intervertebral space narrowingAbnormality of the skele HP:0006514 Intraalveolar nodular calcificationsAbnormality of the skele HP:0008954 Intrinsic hand muscle atrophyAbnormality of the skele HP:0008833 Irregular acetabular roofAbnormality of the skele HP:0003945 Irregular articular surfaces of the elbow jointsAbnormality of the skele HP:0005041 Irregular capital femoral epiphysisAbnormality of the skele HP:0004236 Irregular carpal bonesAbnormality of the skele HP:0006606 Irregular chondrocostal junctionsAbnormality of the skele HP:0006407 Irregular distal femoral epiphysisAbnormality of the skele HP:0010582 Irregular epiphysesAbnormality of the skele HP:0009493 Irregular epiphyses of the 2nd fingerAbnormality of the skele HP:0100049 Irregular epiphyses of the 2nd toeAbnormality of the skele HP:0009415 Irregular epiphyses of the 3rd fingerAbnormality of the skele HP:0100060 Irregular epiphyses of the 3rd toeAbnormality of the skele HP:0009398 Irregular epiphyses of the 4th fingerAbnormality of the skele HP:0100071 Irregular epiphyses of the 4th toeAbnormality of the skele HP:0009387 Irregular epiphyses of the 5th fingerAbnormality of the skele HP:0100082 Irregular epiphyses of the 5th toeAbnormality of the skele HP:0010251 Irregular epiphyses of the distal phalanges of the handAbnormality of the skele HP:0003948 Irregular epiphyses of the elbowAbnormality of the skele HP:0010118 Irregular epiphyses of the halluxAbnormality of the skele HP:0009190 Irregular epiphyses of the metacarpalsAbnormality of the skele HP:0010262 Irregular epiphyses of the middle phalanges of the handAbnormality of the skele HP:0010233 Irregular epiphyses of the phalanges of the haAbnormality of the skele HP:0010273 Irregular epiphyses of the proximal phalanges of the handAbnormality of the skele HP:0010167 Irregular epiphyses of the toesAbnormality of the skele HP:0003842 Irregular epiphyses of the upper limbsAbnormality of the skele HP:0010020 Irregular epiphysis of the 1st metacarpalAbnormality of the skele HP:0010154 Irregular epiphysis of the 1st metatarsalAbnormality of the skele HP:0009507 Irregular epiphysis of the distal phalanx of the Abnormality of the skele HP:0100105 Irregular epiphysis of the distal phalanx of the 2nd toeAbnormality of the skele HP:0009340 Irregular epiphysis of the distal phalanx of the 3Abnormality of the skele HP:0100140 Irregular epiphysis of the distal phalanx of the 3rd toeAbnormality of the skele HP:0009255 Irregular epiphysis of the distal phalanx of the 4Abnormality of the skele HP:0100174 Irregular epiphysis of the distal phalanx of the 4th toeAbnormality of the skele HP:0009167 Irregular epiphysis of the distal phalanx of the 5Abnormality of the skele HP:0100207 Irregular epiphysis of the distal phalanx of the 5th toeAbnormality of the skele HP:0010143 Irregular epiphysis of the distal phalanx of the halluxAbnormality of the skele HP:0009680 Irregular epiphysis of the distal phalanx of theAbnormality of the skele HP:0009518 Irregular epiphysis of the middle phalanx of the 2nd fingerAbnormality of the skele HP:0100116 Irregular epiphysis of the middle phalanx of the 2nd toeAbnormality of the skele HP:0009326 Irregular epiphysis of the middle phalanx of the Abnormality of the skele HP:0100151 Irregular epiphysis of the middle phalanx of the 3rd toeAbnormality of the skele HP:0009219 Irregular epiphysis of the middle phalanx of the Abnormality of the skele HP:0100185 Irregular epiphysis of the middle phalanx of the 4th toe

Abnormality of the skele HP:0009208 Irregular epiphysis of the middle phalanx of the Abnormality of the skele HP:0100218 Irregular epiphysis of the middle phalanx of the 5th toeAbnormality of the skele HP:0009529 Irregular epiphysis of the proximal phalanx of the 2nd fingerAbnormality of the skele HP:0100127 Irregular epiphysis of the proximal phalanx of the 2nd toeAbnormality of the skele HP:0009351 Irregular epiphysis of the proximal phalanx of thAbnormality of the skele HP:0100162 Irregular epiphysis of the proximal phalanx of the 3rd toeAbnormality of the skele HP:0009266 Irregular epiphysis of the proximal phalanx of thAbnormality of the skele HP:0100196 Irregular epiphysis of the proximal phalanx of the 4th toeAbnormality of the skele HP:0009199 Irregular epiphysis of the proximal phalanx of thAbnormality of the skele HP:0100229 Irregular epiphysis of the proximal phalanx of the 5th toeAbnormality of the skele HP:0010132 Irregular epiphysis of the proximal phalanx of the halluxAbnormality of the skele HP:0009669 Irregular epiphysis of the proximal phalanx of Abnormality of the skele HP:0006361 Irregular femoral epiphysesAbnormality of the skele HP:0003896 Irregular humeral epiphysesAbnormality of the skele HP:0003913 Irregular humeral metaphysesAbnormality of the skele HP:0003796 Irregular iliac crestAbnormality of the skele HP:0006160 Irregular metacarpalsAbnormality of the skele HP:0003951 Irregular metaphyses (elbow)Abnormality of the skele HP:0003850 Irregular metaphyses of the upper limbsAbnormality of the skele HP:0004034 Irregular olecranonAbnormality of the skele HP:0006598 Irregular ossification at anterior rib endsAbnormality of the skele HP:0004280 Irregular ossification of hand bonesAbnormality of the skele HP:0003914 Irregular ossification of humeral metaphysesAbnormality of the skele HP:0003897 Irregular ossification of the humeral epiphysesAbnormality of the skele HP:0004020 Irregular ossification of the radial metaphysisAbnormality of the skele HP:0006369 Irregular patellaeAbnormality of the skele HP:0006205 Irregular phalangesAbnormality of the skele HP:0003411 Irregular proximal femoral metaphysesAbnormality of the skele HP:0006456 Irregular proximal tibial epiphysesAbnormality of the skele HP:0004004 Irregular radial epiphysesAbnormality of the skele HP:0004019 Irregular radial metaphysisAbnormality of the skele HP:0004281 Irregular sclerosis of hand bonesAbnormality of the skele HP:0008476 Irregular sclerotic endplatesAbnormality of the skele HP:0004688 Irregular tarsal bonesAbnormality of the skele HP:0008134 Irregular tarsal ossificationAbnormality of the skele HP:0009691 Irregular thumb epiphysisAbnormality of the skele HP:0004042 Irregular ulnar metaphysisAbnormality of the skele HP:0003301 Irregular vertebral endplatesAbnormality of the skele HP:0005042 Irregular, rachitic-like metaphysesAbnormality of the skele HP:0004582 Irregularity of vertebral bodiesAbnormality of the skele HP:0010583 Ivory epiphysesAbnormality of the skele HP:0009494 Ivory epiphyses of the 2nd fingerAbnormality of the skele HP:0100050 Ivory epiphyses of the 2nd toeAbnormality of the skele HP:0009416 Ivory epiphyses of the 3rd fingerAbnormality of the skele HP:0100061 Ivory epiphyses of the 3rd toeAbnormality of the skele HP:0009399 Ivory epiphyses of the 4th fingerAbnormality of the skele HP:0100072 Ivory epiphyses of the 4th toeAbnormality of the skele HP:0009388 Ivory epiphyses of the 5th fingerAbnormality of the skele HP:0100083 Ivory epiphyses of the 5th toeAbnormality of the skele HP:0010252 Ivory epiphyses of the distal phalanges of the

Abnormality of the skele HP:0010119 Ivory epiphyses of the halluxAbnormality of the skele HP:0009191 Ivory epiphyses of the metacarpalsAbnormality of the skele HP:0010263 Ivory epiphyses of the middle phalanges of theAbnormality of the skele HP:0010234 Ivory epiphyses of the phalanges of the handAbnormality of the skele HP:0010274 Ivory epiphyses of the proximal phalanges of tAbnormality of the skele HP:0010168 Ivory epiphyses of the toesAbnormality of the skele HP:0010021 Ivory epiphysis of the 1st metacarpalAbnormality of the skele HP:0010155 Ivory epiphysis of the 1st metatarsalAbnormality of the skele HP:0009508 Ivory epiphysis of the distal phalanx of the 2nd Abnormality of the skele HP:0100106 Ivory epiphysis of the distal phalanx of the 2nd toeAbnormality of the skele HP:0009341 Ivory epiphysis of the distal phalanx of the 3rd Abnormality of the skele HP:0100141 Ivory epiphysis of the distal phalanx of the 3rd toeAbnormality of the skele HP:0009256 Ivory epiphysis of the distal phalanx of the 4th fAbnormality of the skele HP:0100175 Ivory epiphysis of the distal phalanx of the 4th toeAbnormality of the skele HP:0004223 Ivory epiphysis of the distal phalanx of the 5th fAbnormality of the skele HP:0100208 Ivory epiphysis of the distal phalanx of the 5th toeAbnormality of the skele HP:0010144 Ivory epiphysis of the distal phalanx of the halluxAbnormality of the skele HP:0009681 Ivory epiphysis of the distal phalanx of the thuAbnormality of the skele HP:0009519 Ivory epiphysis of the middle phalanx of the 2nd fingerAbnormality of the skele HP:0100117 Ivory epiphysis of the middle phalanx of the 2nd toeAbnormality of the skele HP:0009327 Ivory epiphysis of the middle phalanx of the 3rdAbnormality of the skele HP:0100152 Ivory epiphysis of the middle phalanx of the 3rd toeAbnormality of the skele HP:0009220 Ivory epiphysis of the middle phalanx of the 4thAbnormality of the skele HP:0100186 Ivory epiphysis of the middle phalanx of the 4th toeAbnormality of the skele HP:0009209 Ivory epiphysis of the middle phalanx of the 5thAbnormality of the skele HP:0100219 Ivory epiphysis of the middle phalanx of the 5th toeAbnormality of the skele HP:0009530 Ivory epiphysis of the proximal phalanx of the 2nd fingerAbnormality of the skele HP:0100128 Ivory epiphysis of the proximal phalanx of the 2nd toeAbnormality of the skele HP:0009352 Ivory epiphysis of the proximal phalanx of the 3Abnormality of the skele HP:0100163 Ivory epiphysis of the proximal phalanx of the 3rd toeAbnormality of the skele HP:0009267 Ivory epiphysis of the proximal phalanx of the 4Abnormality of the skele HP:0100197 Ivory epiphysis of the proximal phalanx of the 4th toeAbnormality of the skele HP:0009157 Ivory epiphysis of the proximal phalanx of the 5Abnormality of the skele HP:0100230 Ivory epiphysis of the proximal phalanx of the 5th toeAbnormality of the skele HP:0010133 Ivory epiphysis of the proximal phalanx of the halluxAbnormality of the skele HP:0009670 Ivory epiphysis of the proximal phalanx of the Abnormality of the skele HP:0009692 Ivory epiphysis of the thumbAbnormality of the skele HP:0009319 Joint contracture of the 3rd fingerAbnormality of the skele HP:0009274 Joint contracture of the 4th fingerAbnormality of the skele HP:0009183 Joint contracture of the 5th fingerAbnormality of the skele HP:0009473 Joint contracture of the handAbnormality of the skele HP:0100492 Joint contractures involving the joints of the feeAbnormality of the skele HP:0001373 Joint dislocationAbnormality of the skele HP:0005837 Joint dislocations in young adultAbnormality of the skele HP:0005261 Joint hemorrhageAbnormality of the skele HP:0005692 Joint hyperflexibilityAbnormality of the skele HP:0001382 Joint hypermobilityAbnormality of the skele HP:0001388 Joint laxityAbnormality of the skele HP:0001387 Joint stiffnessAbnormality of the skele HP:0001386 Joint swelling

Abnormality of the skele HP:0005833 Joint swelling onset late infancyAbnormality of the skele HP:0100323 Juvenile aseptic necrosisAbnormality of the skele HP:0005681 Juvenile rheumatoid arthritisAbnormality of the skele HP:0004976 Knee dislocationAbnormality of the skele HP:0006380 Knee flexion contractureAbnormality of the skele HP:0005086 Knee osteoarthritisAbnormality of the skele HP:0002751 KyphoscoliosisAbnormality of the skele HP:0002808 KyphosisAbnormality of the skele HP:0012455 Large artery calcificationAbnormality of the skele HP:0004263 Large capitate boneAbnormality of the skele HP:0004237 Large carpal bonesAbnormality of the skele HP:0004260 Large hamate boneAbnormality of the skele HP:0001176 Large handsAbnormality of the skele HP:0003898 Large humeral epiphysesAbnormality of the skele HP:0008818 Large iliac wingsAbnormality of the skele HP:0005008 Large joint dislocationsAbnormality of the skele HP:0010779 Large pelvisAbnormality of the skele HP:0004005 Large radial epiphysesAbnormality of the skele HP:0006642 Large sternal ossification centersAbnormality of the skele HP:0004679 Large tarsal bonesAbnormality of the skele HP:0008754 Laryngeal calcificationAbnormality of the skele HP:0006397 Lateral displacement of patellaeAbnormality of the skele HP:0006453 Lateral displacement of the femoral headAbnormality of the skele HP:0005090 Lateral femoral bowingAbnormality of the skele HP:0006441 Lateral humeral condyle aplasiaAbnormality of the skele HP:0003833 Laterally deficient tibial plateauxAbnormality of the skele HP:0003921 Laterally sloping humeral metaphysisAbnormality of the skele HP:0011404 Lethal short-trunk short statureAbnormality of the skele HP:0005716 Lethal skeletal dysplasiaAbnormality of the skele HP:0001380 Ligamentous laxityAbnormality of the skele HP:0100524 Limb duplicationAbnormality of the skele HP:0003121 Limb joint contractureAbnormality of the skele HP:0009763 Limb painAbnormality of the skele HP:0009826 Limb undergrowthAbnormality of the skele HP:0001376 Limitation of joint mobilityAbnormality of the skele HP:0010501 Limitation of knee mobilityAbnormality of the skele HP:0010505 Limitation of movement at anklesAbnormality of the skele HP:0001377 Limited elbow extensionAbnormality of the skele HP:0005852 Limited elbow extension and supinationAbnormality of the skele HP:0006376 Limited elbow flexionAbnormality of the skele HP:0002996 Limited elbow movementAbnormality of the skele HP:0003093 Limited hip extensionAbnormality of the skele HP:0008800 Limited hip movementAbnormality of the skele HP:0006064 Limited interphalangeal movementAbnormality of the skele HP:0003066 Limited knee extensionAbnormality of the skele HP:0006389 Limited knee flexionAbnormality of the skele HP:0006217 Limited mobility of proximal interphalangeal jointAbnormality of the skele HP:0006394 Limited pronation/supination of forearmAbnormality of the skele HP:0006467 Limited shoulder movementAbnormality of the skele HP:0006251 Limited wrist extension

Abnormality of the skele HP:0006248 Limited wrist movementAbnormality of the skele HP:0000890 Long claviclesAbnormality of the skele HP:0002831 Long coccyxAbnormality of the skele HP:0012299 Long distal phalanx of fingerAbnormality of the skele HP:0003085 Long fibulaAbnormality of the skele HP:0100807 Long fingersAbnormality of the skele HP:0001833 Long footAbnormality of the skele HP:0001847 Long halluxAbnormality of the skele HP:0010493 Long metacarpalsAbnormality of the skele HP:0012298 Long middle phalanx of fingerAbnormality of the skele HP:0011302 Long palmAbnormality of the skele HP:0006155 Long phalanx of fingerAbnormality of the skele HP:0006127 Long proximal phalanx of fingerAbnormality of the skele HP:0006040 Long second metacarpalAbnormality of the skele HP:0004036 Long styloid process Abnormality of the skele HP:0100818 Long thoraxAbnormality of the skele HP:0010511 Long toeAbnormality of the skele HP:0003988 Long ulnaAbnormality of the skele HP:0003419 Low back painAbnormality of the skele HP:0100559 Lower limb asymmetryAbnormality of the skele HP:0012514 Lower limb painAbnormality of the skele HP:0009820 Lower limb peromeliaAbnormality of the skele HP:0009819 Lower limb phocomeliaAbnormality of the skele HP:0009816 Lower limb undergrowthAbnormality of the skele HP:0008470 Lower thoracic interpediculate narrownessAbnormality of the skele HP:0004633 Lower thoracic kyphosisAbnormality of the skele HP:0008439 Lumbar hemivertebraeAbnormality of the skele HP:0002938 Lumbar hyperlordosisAbnormality of the skele HP:0008486 Lumbar interpedicular narrowingAbnormality of the skele HP:0004619 Lumbar kyphoscoliosisAbnormality of the skele HP:0008454 Lumbar kyphosisAbnormality of the skele HP:0008414 Lumbar kyphosis in infancyAbnormality of the skele HP:0005787 Lumbar platyspondylyAbnormality of the skele HP:0004626 Lumbar scoliosisAbnormality of the skele HP:0004610 Lumbar spinal canal stenosisAbnormality of the skele HP:0200133 Lumbosacral meningoceleAbnormality of the skele HP:0004251 Lunate-triquetral fusionAbnormality of the skele HP:0003875 Lytic defects (humeral)Abnormality of the skele HP:0003851 Lytic defects in metaphyses of the upper limbsAbnormality of the skele HP:0004238 Lytic defects of carpal bonesAbnormality of the skele HP:0003930 Lytic defects of humeral diaphysisAbnormality of the skele HP:0004029 Lytic defects of radial diaphysisAbnormality of the skele HP:0004021 Lytic defects of radial metaphysisAbnormality of the skele HP:0003963 Lytic defects of the forearm bonesAbnormality of the skele HP:0003915 Lytic defects of the humeral metaphsisAbnormality of the skele HP:0003979 Lytic defects of the radiusAbnormality of the skele HP:0004043 Lytic defects of ulnar metaphysisAbnormality of the skele HP:0004099 MacrodactylyAbnormality of the skele HP:0100746 Macrodactyly of fingerAbnormality of the skele HP:0100747 Macrodactyly of toe

Abnormality of the skele HP:0003067 Madelung deformityAbnormality of the skele HP:0003068 Madelung-like forearm deformitiesAbnormality of the skele HP:0006092 Malaligned carpal boneAbnormality of the skele HP:0005829 Maldevelopment of radioulnar jointAbnormality of the skele HP:0003799 Marked delay in bone ageAbnormality of the skele HP:0005665 Massively thickened long bone corticesAbnormality of the skele HP:0012456 Medial arterial calcificationAbnormality of the skele HP:0004966 Medial calcification of large arteriesAbnormality of the skele HP:0012457 Medial calcification of medium-sized arteriesAbnormality of the skele HP:0012458 Medial calcification of small arteriesAbnormality of the skele HP:0008082 Medial deviation of the footAbnormality of the skele HP:0008132 Medial rotation of the medial malleolusAbnormality of the skele HP:0006599 Medial widening of claviclesAbnormality of the skele HP:0004001 Medially deficient radial epiphysesAbnormality of the skele HP:0008096 Medially deviated second toeAbnormality of the skele HP:0004003 Medially flattened radial epiphysesAbnormality of the skele HP:0004013 Medially fused radial epiphyseal platesAbnormality of the skele HP:0004009 Medially sloping radial epiphysesAbnormality of the skele HP:0004024 Medially sloping radial metaphysisAbnormality of the skele HP:0010112 Mesoaxial foot polydactylyAbnormality of the skele HP:0006159 Mesoaxial hand polydactylyAbnormality of the skele HP:0100260 Mesoaxial polydactylyAbnormality of the skele HP:0003027 MesomeliaAbnormality of the skele HP:0005011 Mesomelic arm shorteningAbnormality of the skele HP:0004987 Mesomelic leg shorteningAbnormality of the skele HP:0006174 Metacarpal diaphyseal endosteal sclerosisAbnormality of the skele HP:0001504 Metacarpal osteolysisAbnormality of the skele HP:0006051 Metacarpal periosteal thickeningAbnormality of the skele HP:0009701 Metacarpal synostosisAbnormality of the skele HP:0006070 Metacarpophalangeal joint contractureAbnormality of the skele HP:0006099 Metacarpophalangeal joint hyperextensibilityAbnormality of the skele HP:0005880 Metacarpophalangeal synostosisAbnormality of the skele HP:0006431 Metaphyseal abnormalities of distal and proximal femursAbnormality of the skele HP:0005871 Metaphyseal chondrodysplasiaAbnormality of the skele HP:0003021 Metaphyseal cuppingAbnormality of the skele HP:0006028 Metaphyseal cupping of metacarpalsAbnormality of the skele HP:0006208 Metaphyseal cupping of proximal phalangesAbnormality of the skele HP:0011860 Metaphyseal dapplingAbnormality of the skele HP:0005899 Metaphyseal dysostosisAbnormality of the skele HP:0100255 Metaphyseal dysplasiaAbnormality of the skele HP:0005868 Metaphyseal enchondromatosisAbnormality of the skele HP:0003025 Metaphyseal irregularityAbnormality of the skele HP:0004980 Metaphyseal rarefactionAbnormality of the skele HP:0004979 Metaphyseal sclerosisAbnormality of the skele HP:0005054 Metaphyseal spursAbnormality of the skele HP:0003016 Metaphyseal wideningAbnormality of the skele HP:0008114 Metatarsal diaphyseal endosteal sclerosisAbnormality of the skele HP:0001473 Metatarsal osteolysisAbnormality of the skele HP:0008074 Metatarsal periosteal thickeningAbnormality of the skele HP:0001840 Metatarsus adductus

Abnormality of the skele HP:0010508 Metatarsus valgusAbnormality of the skele HP:0002983 MicromeliaAbnormality of the skele HP:0006638 Midclavicular aplasiaAbnormality of the skele HP:0006608 Midclavicular hypoplasiaAbnormality of the skele HP:0010691 Mirror image foot polydactylyAbnormality of the skele HP:0010690 Mirror image hand polydactylyAbnormality of the skele HP:0010689 Mirror image polydactylyAbnormality of the skele HP:0000921 Missing ribsAbnormality of the skele HP:0004382 Mitral valve calcificationAbnormality of the skele HP:0004057 Mitten deformityAbnormality of the skele HP:0005825 Mixed sclerosis of humeral metaphysesAbnormality of the skele HP:0005653 Moderate generalized osteoporosisAbnormality of the skele HP:0200054 Monodactyly (feet)Abnormality of the skele HP:0004058 Monodactyly (hands)Abnormality of the skele HP:0010736 Monostotic fibrous dysplasiaAbnormality of the skele HP:0010889 Morbus KienboeckAbnormality of the skele HP:0010888 Morbus KoehlerAbnormality of the skele HP:0010890 Morbus Osgood-SchlatterAbnormality of the skele HP:0010891 Morbus ScheuermannAbnormality of the skele HP:0008835 Multicentric femoral head ossificationAbnormality of the skele HP:0006450 Multicentric ossification of proximal femoral epiphysesAbnormality of the skele HP:0004997 Multicentric ossification of proximal humeral epiphysesAbnormality of the skele HP:0012065 Multiple bony cystic lesionsAbnormality of the skele HP:0006067 Multiple carpal ossification centersAbnormality of the skele HP:0005655 Multiple digital exostosesAbnormality of the skele HP:0005701 Multiple enchondromatosisAbnormality of the skele HP:0002654 Multiple epiphyseal dysplasiaAbnormality of the skele HP:0002762 Multiple exostosesAbnormality of the skele HP:0002828 Multiple joint contracturesAbnormality of the skele HP:0012095 Multiple joint dislocationAbnormality of the skele HP:0005039 Multiple long-bone exostosesAbnormality of the skele HP:0006114 Multiple palmar creasesAbnormality of the skele HP:0005855 Multiple prenatal fracturesAbnormality of the skele HP:0001040 Multiple pterygiaAbnormality of the skele HP:0006640 Multiple rib fracturesAbnormality of the skele HP:0005775 Multiple skeletal anomaliesAbnormality of the skele HP:0005877 Multiple small vertebral fracturesAbnormality of the skele HP:0006690 Myocardial calcificationAbnormality of the skele HP:0008473 Narrow anterio-posterior vertebral body diametAbnormality of the skele HP:0004264 Narrow carpal joint spacesAbnormality of the skele HP:0000774 Narrow chestAbnormality of the skele HP:0008819 Narrow femoral neckAbnormality of the skele HP:0001786 Narrow footAbnormality of the skele HP:0100958 Narrow foramen obturatoriumAbnormality of the skele HP:0003375 Narrow greater sacrosciatic notchesAbnormality of the skele HP:0002868 Narrow iliac wingsAbnormality of the skele HP:0003944 Narrow joint spaces of the elbowAbnormality of the skele HP:0004048 Narrow joint spaces of wristAbnormality of the skele HP:0004283 Narrow palmAbnormality of the skele HP:0003275 Narrow pelvis

Abnormality of the skele HP:0008803 Narrow sacroiliac notchAbnormality of the skele HP:0008815 Narrow sacroiliac notches in infancyAbnormality of the skele HP:0004267 Narrow small joints of the handAbnormality of the skele HP:0008450 Narrow vertebral interpedicular distanceAbnormality of the skele HP:0009759 Neck pterygiaAbnormality of the skele HP:0005756 Neonatal epiphyseal stipplingAbnormality of the skele HP:0008857 Neonatal short-trunk short statureAbnormality of the skele HP:0010622 Neoplasm of the skeletal systemAbnormality of the skele HP:0002821 Neuropathic arthropathyAbnormality of the skele HP:0005725 Nonopposable triphalangeal thumbAbnormality of the skele HP:0008087 Nonossified fifth metatarsalAbnormality of the skele HP:0003852 Normal density transverse bands in metaphyses of the upper limbsAbnormality of the skele HP:0003916 Normal-density transverse bands (humerus)Abnormality of the skele HP:0004284 Notched hand bonesAbnormality of the skele HP:0003989 Notched ulnaAbnormality of the skele HP:0012165 OligodactylyAbnormality of the skele HP:0001849 Oligodactyly (feet)Abnormality of the skele HP:0001180 Oligodactyly (hands)Abnormality of the skele HP:0005866 Opposable triphalangeal thumbAbnormality of the skele HP:0005667 Os odontoideumAbnormality of the skele HP:0010492 Osseous finger syndactylyAbnormality of the skele HP:0010717 Osseous syndactyly of toesAbnormality of the skele HP:0002758 OsteoarthritisAbnormality of the skele HP:0006233 Osteoarthritis of the distal interphalangeal jointAbnormality of the skele HP:0003940 Osteoarthritis of the elbowAbnormality of the skele HP:0006226 Osteoarthritis of the first carpometacarpal jointAbnormality of the skele HP:0004268 Osteoarthritis of the small joints of the handAbnormality of the skele HP:0011846 OsteoblastomaAbnormality of the skele HP:0010886 Osteochondrosis dissecansAbnormality of the skele HP:0002797 OsteolysisAbnormality of the skele HP:0009134 Osteolysis involving bones of the feetAbnormality of the skele HP:0009139 Osteolysis involving bones of the lower limbsAbnormality of the skele HP:0006234 Osteolysis involving tarsal bonesAbnormality of the skele HP:0006378 Osteolysis of patellaeAbnormality of the skele HP:0006202 Osteolysis of scaphoidsAbnormality of the skele HP:0008095 Osteolysis of talusAbnormality of the skele HP:0009645 Osteolytic defect of the distal phalanx of the tAbnormality of the skele HP:0009633 Osteolytic defect of the proximal phalanx of thAbnormality of the skele HP:0010207 Osteolytic defect of the proximal toe phalanxAbnormality of the skele HP:0009654 Osteolytic defect of thumb phalanxAbnormality of the skele HP:0010030 Osteolytic defects of the 1st metacarpalAbnormality of the skele HP:0010071 Osteolytic defects of the 1st metatarsalAbnormality of the skele HP:0009839 Osteolytic defects of the distal phalanges of the handAbnormality of the skele HP:0010189 Osteolytic defects of the distal phalanges of the toesAbnormality of the skele HP:0009561 Osteolytic defects of the distal phalanx of the 2Abnormality of the skele HP:0010417 Osteolytic defects of the distal phalanx of the 2nd toeAbnormality of the skele HP:0009424 Osteolytic defects of the distal phalanx of the 3Abnormality of the skele HP:0100458 Osteolytic defects of the distal phalanx of the 3rd toeAbnormality of the skele HP:0009303 Osteolytic defects of the distal phalanx of the 4tAbnormality of the skele HP:0100459 Osteolytic defects of the distal phalanx of the 4th toe

Abnormality of the skele HP:0009242 Osteolytic defects of the distal phalanx of the 5tAbnormality of the skele HP:0100460 Osteolytic defects of the distal phalanx of the 5th toeAbnormality of the skele HP:0010080 Osteolytic defects of the distal phalanx of the halluxAbnormality of the skele HP:0009699 Osteolytic defects of the hand bonesAbnormality of the skele HP:0009847 Osteolytic defects of the middle phalanges of the handAbnormality of the skele HP:0010198 Osteolytic defects of the middle phalanges of the toesAbnormality of the skele HP:0009572 Osteolytic defects of the middle phalanx of the Abnormality of the skele HP:0010408 Osteolytic defects of the middle phalanx of the 2nd toeAbnormality of the skele HP:0009433 Osteolytic defects of the middle phalanx of the Abnormality of the skele HP:0100452 Osteolytic defects of the middle phalanx of the 3rd toeAbnormality of the skele HP:0009297 Osteolytic defects of the middle phalanx of the Abnormality of the skele HP:0100453 Osteolytic defects of the middle phalanx of the 4th toeAbnormality of the skele HP:0009170 Osteolytic defects of the middle phalanx of the Abnormality of the skele HP:0100454 Osteolytic defects of the middle phalanx of the 5th toeAbnormality of the skele HP:0009550 Osteolytic defects of the phalanges of the 2nd fingerAbnormality of the skele HP:0010351 Osteolytic defects of the phalanges of the 2nd toeAbnormality of the skele HP:0009443 Osteolytic defects of the phalanges of the 3rd fAbnormality of the skele HP:0010363 Osteolytic defects of the phalanges of the 3rd toeAbnormality of the skele HP:0004195 Osteolytic defects of the phalanges of the 4th fAbnormality of the skele HP:0010375 Osteolytic defects of the phalanges of the 4th toeAbnormality of the skele HP:0004216 Osteolytic defects of the phalanges of the 5th fAbnormality of the skele HP:0010387 Osteolytic defects of the phalanges of the 5th toeAbnormality of the skele HP:0010062 Osteolytic defects of the phalanges of the halluxAbnormality of the skele HP:0009771 Osteolytic defects of the phalanges of the handAbnormality of the skele HP:0010177 Osteolytic defects of the phalanges of the toesAbnormality of the skele HP:0009855 Osteolytic defects of the proximal phalanges of the handAbnormality of the skele HP:0009584 Osteolytic defects of the proximal phalanx of thAbnormality of the skele HP:0010399 Osteolytic defects of the proximal phalanx of the 2nd toeAbnormality of the skele HP:0009453 Osteolytic defects of the proximal phalanx of thAbnormality of the skele HP:0100455 Osteolytic defects of the proximal phalanx of the 3rd toeAbnormality of the skele HP:0009312 Osteolytic defects of the proximal phalanx of thAbnormality of the skele HP:0100456 Osteolytic defects of the proximal phalanx of the 4th toeAbnormality of the skele HP:0009230 Osteolytic defects of the proximal phalanx of thAbnormality of the skele HP:0100457 Osteolytic defects of the proximal phalanx of the 5th toeAbnormality of the skele HP:0010089 Osteolytic defects of the proximal phalanx of the halluxAbnormality of the skele HP:0100246 OsteomaAbnormality of the skele HP:0002749 OsteomalaciaAbnormality of the skele HP:0002754 OsteomyelitisAbnormality of the skele HP:0002755 Osteomyelitis due to immunodeficiencyAbnormality of the skele HP:0010740 Osteopathia striataAbnormality of the skele HP:0000938 OsteopeniaAbnormality of the skele HP:0011002 OsteopetrosisAbnormality of the skele HP:0010739 OsteopoikilosisAbnormality of the skele HP:0000939 OsteoporosisAbnormality of the skele HP:0005625 Osteoporosis of vertebraeAbnormality of the skele HP:0003964 Osteoporotic forearm bonesAbnormality of the skele HP:0003876 Osteoporotic humerusAbnormality of the skele HP:0004699 Osteoporotic metatarsalAbnormality of the skele HP:0008076 Osteoporotic tarsalsAbnormality of the skele HP:0002669 Osteosarcoma

Abnormality of the skele HP:0006634 Osteosclerosis of ribsAbnormality of the skele HP:0005746 Osteosclerosis of the base of the skullAbnormality of the skele HP:0003991 Osteosclerosis of the ulnaAbnormality of the skele HP:0003877 Oval transradiancy (humeral)Abnormality of the skele HP:0010557 Overlapping fingersAbnormality of the skele HP:0001845 Overlapping toeAbnormality of the skele HP:0004285 Overmodelled hand bonesAbnormality of the skele HP:0006391 Overtubulated long bonesAbnormality of the skele HP:0003309 Ovoid thoracolumbar vertebraeAbnormality of the skele HP:0003300 Ovoid vertebral bodiesAbnormality of the skele HP:0002661 Painless fractures due to injuryAbnormality of the skele HP:0010610 Palmar pitsAbnormality of the skele HP:0100869 Palmar telangiectasiaAbnormality of the skele HP:0007446 Palmoplantar blisteringAbnormality of the skele HP:0007469 Palmoplantar cutis gyrataAbnormality of the skele HP:0007517 Palmoplantar cutis laxaAbnormality of the skele HP:0000972 Palmoplantar hyperkeratosisAbnormality of the skele HP:0007548 Palmoplantar keratosis with erythema and scaleAbnormality of the skele HP:0005213 Pancreatic calcificationAbnormality of the skele HP:0011299 Partial absence of fingerAbnormality of the skele HP:0009659 Partial absence of thumbAbnormality of the skele HP:0011305 Partial absence of toeAbnormality of the skele HP:0010428 Partial duplication of phalanx of the 2nd toeAbnormality of the skele HP:0010099 Partial duplication of the 1st metatarsalAbnormality of the skele HP:0010004 Partial duplication of the distal phalanges of thAbnormality of the skele HP:0009951 Partial duplication of the distal phalanx of the 2Abnormality of the skele HP:0010425 Partial duplication of the distal phalanx of the 2Abnormality of the skele HP:0009968 Partial duplication of the distal phalanx of the 3Abnormality of the skele HP:0100416 Partial duplication of the distal phalanx of the 3Abnormality of the skele HP:0009981 Partial duplication of the distal phalanx of the 4Abnormality of the skele HP:0100417 Partial duplication of the distal phalanx of the 4Abnormality of the skele HP:0009994 Partial duplication of the distal phalanx of the 5Abnormality of the skele HP:0100418 Partial duplication of the distal phalanx of the 5Abnormality of the skele HP:0010097 Partial duplication of the distal phalanx of the halluxAbnormality of the skele HP:0010005 Partial duplication of the middle phalanges of Abnormality of the skele HP:0009953 Partial duplication of the middle phalanx of the Abnormality of the skele HP:0010427 Partial duplication of the middle phalanx of theAbnormality of the skele HP:0009969 Partial duplication of the middle phalanx of the Abnormality of the skele HP:0100419 Partial duplication of the middle phalanx of the Abnormality of the skele HP:0009982 Partial duplication of the middle phalanx of the Abnormality of the skele HP:0100420 Partial duplication of the middle phalanx of the Abnormality of the skele HP:0009995 Partial duplication of the middle phalanx of the Abnormality of the skele HP:0100421 Partial duplication of the middle phalanx of the Abnormality of the skele HP:0009956 Partial duplication of the phalanges of the 2nd fAbnormality of the skele HP:0009961 Partial duplication of the phalanges of the 3rd fAbnormality of the skele HP:0009974 Partial duplication of the phalanges of the 4th fAbnormality of the skele HP:0009987 Partial duplication of the phalanges of the 5th fAbnormality of the skele HP:0010101 Partial duplication of the phalanges of the halluxAbnormality of the skele HP:0009999 Partial duplication of the phalanx of handAbnormality of the skele HP:0010003 Partial duplication of the proximal phalanges of

Abnormality of the skele HP:0009955 Partial duplication of the proximal phalanx of thAbnormality of the skele HP:0010423 Partial duplication of the proximal phalanx of tAbnormality of the skele HP:0009970 Partial duplication of the proximal phalanx of thAbnormality of the skele HP:0100422 Partial duplication of the proximal phalanx of thAbnormality of the skele HP:0009983 Partial duplication of the proximal phalanx of thAbnormality of the skele HP:0100423 Partial duplication of the proximal phalanx of the 4th toeAbnormality of the skele HP:0009996 Partial duplication of the proximal phalanx of thAbnormality of the skele HP:0100424 Partial duplication of the proximal phalanx of thAbnormality of the skele HP:0010095 Partial duplication of the proximal phalanx of thAbnormality of the skele HP:0009944 Partial duplication of thumb phalanxAbnormality of the skele HP:0006207 Partial fusion of carpalsAbnormality of the skele HP:0005694 Partial fusion of proximal row of carpal bonesAbnormality of the skele HP:0008097 Partial fusion of tarsalsAbnormality of the skele HP:0006209 Partial-complete absence of 5th phalangesAbnormality of the skele HP:0010658 Patchy changes of bone mineral densityAbnormality of the skele HP:0004609 Patchy distortion of vertebraeAbnormality of the skele HP:0005686 Patchy osteosclerosisAbnormality of the skele HP:0010657 Patchy reduction of bone mineral densityAbnormality of the skele HP:0009551 Patchy sclerosis of 2nd finger phalanxAbnormality of the skele HP:0010352 Patchy sclerosis of 2nd toe phalanxAbnormality of the skele HP:0009444 Patchy sclerosis of 3rd finger phalanxAbnormality of the skele HP:0010364 Patchy sclerosis of 3rd toe phalanxAbnormality of the skele HP:0009406 Patchy sclerosis of 4th finger phalanxAbnormality of the skele HP:0010376 Patchy sclerosis of 4th toe phalanxAbnormality of the skele HP:0009377 Patchy sclerosis of 5th finger phalanxAbnormality of the skele HP:0010388 Patchy sclerosis of 5th toe phalanxAbnormality of the skele HP:0009840 Patchy sclerosis of distal phalanx of fingerAbnormality of the skele HP:0010190 Patchy sclerosis of distal toe phalanxAbnormality of the skele HP:0009772 Patchy sclerosis of finger phalanxAbnormality of the skele HP:0010063 Patchy sclerosis of hallux phalanxAbnormality of the skele HP:0004286 Patchy sclerosis of hand bonesAbnormality of the skele HP:0009848 Patchy sclerosis of middle phalanx of fingerAbnormality of the skele HP:0010199 Patchy sclerosis of middle toe phalanxAbnormality of the skele HP:0009856 Patchy sclerosis of proximal phalanx of fingerAbnormality of the skele HP:0010208 Patchy sclerosis of proximal toe phalanxAbnormality of the skele HP:0004030 Patchy sclerosis of radial diaphysisAbnormality of the skele HP:0010031 Patchy sclerosis of the 1st metacarpalAbnormality of the skele HP:0010072 Patchy sclerosis of the 1st metatarsalAbnormality of the skele HP:0009562 Patchy sclerosis of the distal phalanx of the 2ndAbnormality of the skele HP:0010418 Patchy sclerosis of the distal phalanx of the 2nd toeAbnormality of the skele HP:0009425 Patchy sclerosis of the distal phalanx of the 3rdAbnormality of the skele HP:0100467 Patchy sclerosis of the distal phalanx of the 3rd toeAbnormality of the skele HP:0009304 Patchy sclerosis of the distal phalanx of the 4thAbnormality of the skele HP:0100468 Patchy sclerosis of the distal phalanx of the 4thAbnormality of the skele HP:0009243 Patchy sclerosis of the distal phalanx of the 5thAbnormality of the skele HP:0100469 Patchy sclerosis of the distal phalanx of the 5thAbnormality of the skele HP:0010081 Patchy sclerosis of the distal phalanx of the halluxAbnormality of the skele HP:0009646 Patchy sclerosis of the distal phalanx of the thAbnormality of the skele HP:0009573 Patchy sclerosis of the middle phalanx of the 2Abnormality of the skele HP:0010409 Patchy sclerosis of the middle phalanx of the 2nd toe

Abnormality of the skele HP:0009434 Patchy sclerosis of the middle phalanx of the 3rAbnormality of the skele HP:0100461 Patchy sclerosis of the middle phalanx of the 3rd toeAbnormality of the skele HP:0009307 Patchy sclerosis of the middle phalanx of the 4tAbnormality of the skele HP:0100462 Patchy sclerosis of the middle phalanx of the 4tAbnormality of the skele HP:0009175 Patchy sclerosis of the middle phalanx of the 5tAbnormality of the skele HP:0100463 Patchy sclerosis of the middle phalanx of the 5tAbnormality of the skele HP:0009585 Patchy sclerosis of the proximal phalanx of the Abnormality of the skele HP:0010400 Patchy sclerosis of the proximal phalanx of the 2nd toeAbnormality of the skele HP:0009454 Patchy sclerosis of the proximal phalanx of the Abnormality of the skele HP:0100464 Patchy sclerosis of the proximal phalanx of the 3rd toeAbnormality of the skele HP:0009313 Patchy sclerosis of the proximal phalanx of the Abnormality of the skele HP:0100465 Patchy sclerosis of the proximal phalanx of the Abnormality of the skele HP:0009231 Patchy sclerosis of the proximal phalanx of the Abnormality of the skele HP:0100466 Patchy sclerosis of the proximal phalanx of the Abnormality of the skele HP:0010090 Patchy sclerosis of the proximal phalanx of the halluxAbnormality of the skele HP:0009634 Patchy sclerosis of the proximal phalanx of thAbnormality of the skele HP:0009655 Patchy sclerosis of thumb phalanxAbnormality of the skele HP:0010178 Patchy sclerosis of toe phalanxAbnormality of the skele HP:0010659 Patchy variation in bone mineral densityAbnormality of the skele HP:0006443 Patellar aplasiaAbnormality of the skele HP:0002999 Patellar dislocationAbnormality of the skele HP:0003065 Patellar hypoplasiaAbnormality of the skele HP:0010499 Patellar subluxationAbnormality of the skele HP:0002756 Pathologic fractureAbnormality of the skele HP:0004566 Pear-shaped vertebraeAbnormality of the skele HP:0005258 Pectoral muscle hypoplasia/aplasiaAbnormality of the skele HP:0008998 Pectoralis hypoplasiaAbnormality of the skele HP:0000768 Pectus carinatumAbnormality of the skele HP:0000767 Pectus excavatumAbnormality of the skele HP:0000915 Pectus excavatum of inferior sternumAbnormality of the skele HP:0006423 Peg-like central prominence of distal tibial metaphysesAbnormality of the skele HP:0010453 Pelvic asymmetryAbnormality of the skele HP:0003276 Pelvic exostosesAbnormality of the skele HP:0003931 Periosteal new bone (humeral diaphysis)Abnormality of the skele HP:0003878 Periosteal new bone (humeral)Abnormality of the skele HP:0006465 Periosteal thickening of long tubular bonesAbnormality of the skele HP:0009828 PeromeliaAbnormality of the skele HP:0009049 Peroneal muscle atrophyAbnormality of the skele HP:0001761 Pes cavusAbnormality of the skele HP:0001763 Pes planusAbnormality of the skele HP:0006243 Phalangeal dislocationsAbnormality of the skele HP:0009829 PhocomeliaAbnormality of the skele HP:0010771 Pilonidal abscessAbnormality of the skele HP:0010770 Pilonidal fistulaAbnormality of the skele HP:0010769 Pilonidal sinusAbnormality of the skele HP:0008112 Plantar flexion contracturesAbnormality of the skele HP:0000926 PlatyspondylyAbnormality of the skele HP:0003421 Platyspondyly (childhood)Abnormality of the skele HP:0004287 Pointed hand bonesAbnormality of the skele HP:0003917 Pointed humeral metaphysis

Abnormality of the skele HP:0001223 Pointed proximal second through fifth metacarpAbnormality of the skele HP:0003990 Pointed ulnaAbnormality of the skele HP:0004044 Pointed ulnar metaphysisAbnormality of the skele HP:0005764 Polyarticular arthritisAbnormality of the skele HP:0005195 Polyarticular arthropathyAbnormality of the skele HP:0010442 PolydactylyAbnormality of the skele HP:0009946 Polydactyly affecting the 2nd fingerAbnormality of the skele HP:0010328 Polydactyly affecting the 2nd toeAbnormality of the skele HP:0009958 Polydactyly affecting the 3rd fingerAbnormality of the skele HP:0010334 Polydactyly affecting the 3rd toeAbnormality of the skele HP:0009971 Polydactyly affecting the 4th fingerAbnormality of the skele HP:0010340 Polydactyly affecting the 4th toeAbnormality of the skele HP:0010735 Polyostotic fibrous dysplasiaAbnormality of the skele HP:0005873 Polysyndactyly of halluxAbnormality of the skele HP:0008477 Poorly ossified cervical vertebraeAbnormality of the skele HP:0100856 Poorly ossified vertebraeAbnormality of the skele HP:0009756 Popliteal pterygiumAbnormality of the skele HP:0005656 Positional foot deformityAbnormality of the skele HP:0001830 Postaxial foot polydactylyAbnormality of the skele HP:0001162 Postaxial hand polydactylyAbnormality of the skele HP:0006210 Postaxial oligodactylyAbnormality of the skele HP:0100259 Postaxial polydactylyAbnormality of the skele HP:0005696 Postaxial polydactyly type AAbnormality of the skele HP:0005817 Postaxial polysyndactyly of footAbnormality of the skele HP:0005626 Posterior fusion of lumbosacral vertebraeAbnormality of the skele HP:0005798 Posterior radial head dislocationAbnormality of the skele HP:0000922 Posterior rib cuppingAbnormality of the skele HP:0000913 Posterior rib fusionAbnormality of the skele HP:0005121 Posterior scalloping of vertebral bodiesAbnormality of the skele HP:0005739 Posterior subluxation of radial headAbnormality of the skele HP:0008451 Posterior vertebral hypoplasiaAbnormality of the skele HP:0008444 Posterior wedging of vertebral bodiesAbnormality of the skele HP:0003984 Posteriorly dislocated ulnaAbnormality of the skele HP:0001841 Preaxial foot polydactylyAbnormality of the skele HP:0001177 Preaxial hand polydactylyAbnormality of the skele HP:0100258 Preaxial polydactylyAbnormality of the skele HP:0006607 Precocious costochondral ossificationAbnormality of the skele HP:0005136 Premature calcification of mitral annulusAbnormality of the skele HP:0010588 Premature epimetaphyseal fusionAbnormality of the skele HP:0012565 Premature epimetaphyseal fusion in fibulaAbnormality of the skele HP:0012563 Premature epimetaphyseal fusion in footAbnormality of the skele HP:0012562 Premature epimetaphyseal fusion in handAbnormality of the skele HP:0012566 Premature epimetaphyseal fusion in radiusAbnormality of the skele HP:0012564 Premature epimetaphyseal fusion in tibiaAbnormality of the skele HP:0012567 Premature epimetaphyseal fusion in ulnaAbnormality of the skele HP:0006140 Premature fusion of phalangeal epiphysesAbnormality of the skele HP:0004012 Premature fusion of the radial epiphyseal plateAbnormality of the skele HP:0003088 Premature osteoarthritisAbnormality of the skele HP:0006590 Premature sternal synostosisAbnormality of the skele HP:0006383 Progressive bowing of long bones

Abnormality of the skele HP:0006600 Progressive calcification of costochondral cartilageAbnormality of the skele HP:0008449 Progressive cervical vertebral spine fusionAbnormality of the skele HP:0000905 Progressive clavicular acroosteolysisAbnormality of the skele HP:0008458 Progressive congenital scoliosisAbnormality of the skele HP:0005876 Progressive flexion contracturesAbnormality of the skele HP:0005891 Progressive forearm bowingAbnormality of the skele HP:0006147 Progressive fusion 2nd-5th pip jointsAbnormality of the skele HP:0004622 Progressive intervertebral space narrowingAbnormality of the skele HP:0005187 Progressive joint destructionAbnormality of the skele HP:0006409 Progressive leg bowingAbnormality of the skele HP:0008075 Progressive pes cavusAbnormality of the skele HP:0012428 Prominent calcaneusAbnormality of the skele HP:0003890 Prominent deltoid tuberositiesAbnormality of the skele HP:0001212 Prominent fingertip padsAbnormality of the skele HP:0006641 Prominent floating ribsAbnormality of the skele HP:0006189 Prominent interdigital foldsAbnormality of the skele HP:0006237 Prominent interphalangeal jointsAbnormality of the skele HP:0006157 Prominent palmar flexion creasesAbnormality of the skele HP:0008472 Prominent protruding coccyxAbnormality of the skele HP:0006167 Prominent proximal interphalangeal jointsAbnormality of the skele HP:0000884 Prominent sternumAbnormality of the skele HP:0100893 Prominent xiphoid processAbnormality of the skele HP:0006165 Proportionate shortening of all digitsAbnormality of the skele HP:0003179 Protrusio acetabuliAbnormality of the skele HP:0003105 Protuberances at ends of long bonesAbnormality of the skele HP:0006461 Proximal femoral epiphysiolysisAbnormality of the skele HP:0005067 Proximal fibular overgrowthAbnormality of the skele HP:0005190 Proximal finger joint hyperextensibilityAbnormality of the skele HP:0008956 Proximal lower limb amyotrophyAbnormality of the skele HP:0006175 Proximal phalangeal periosteal thickeningAbnormality of the skele HP:0011926 Proximal placement of halluxAbnormality of the skele HP:0009623 Proximal placement of thumbAbnormality of the skele HP:0005070 Proximal radial head dislocationAbnormality of the skele HP:0005037 Proximal radio-ulnar synostosisAbnormality of the skele HP:0100264 Proximal symphalangismAbnormality of the skele HP:0100237 Proximal symphalangism (feet)Abnormality of the skele HP:0006152 Proximal symphalangism (hands)Abnormality of the skele HP:0006119 Proximal tapering of metacarpalsAbnormality of the skele HP:0005892 Proximal tibial and fibular fusionAbnormality of the skele HP:0006379 Proximal tibial hypopolasiaAbnormality of the skele HP:0100489 Proximal/middle symphalangism of 2nd toeAbnormality of the skele HP:0009482 Proximal/middle symphalangism of 3rd fingerAbnormality of the skele HP:0100480 Proximal/middle symphalangism of 3rd toeAbnormality of the skele HP:0009477 Proximal/middle symphalangism of 4th fingerAbnormality of the skele HP:0100481 Proximal/middle symphalangism of 4th toeAbnormality of the skele HP:0009177 Proximal/middle symphalangism of 5th fingerAbnormality of the skele HP:0100482 Proximal/middle symphalangism of 5th toeAbnormality of the skele HP:0009579 Proximal/middle symphalangism of the 2nd fingAbnormality of the skele HP:0004239 Proximally placed carpal bonesAbnormality of the skele HP:0004250 Proximally placed lunate

Abnormality of the skele HP:0003879 Pseudarthrosis (humeral)Abnormality of the skele HP:0003965 Pseudarthrosis of the forearm bonesAbnormality of the skele HP:0003980 Pseudarthrosis of the radiusAbnormality of the skele HP:0100036 Pseudo-fracturesAbnormality of the skele HP:0005864 PseudoarthrosisAbnormality of the skele HP:0010584 PseudoepiphysesAbnormality of the skele HP:0004288 Pseudoepiphyses of hand bonesAbnormality of the skele HP:0006179 Pseudoepiphyses of second metacarpalAbnormality of the skele HP:0009495 Pseudoepiphyses of the 2nd fingerAbnormality of the skele HP:0100051 Pseudoepiphyses of the 2nd toeAbnormality of the skele HP:0009417 Pseudoepiphyses of the 3rd fingerAbnormality of the skele HP:0100062 Pseudoepiphyses of the 3rd toeAbnormality of the skele HP:0009400 Pseudoepiphyses of the 4th fingerAbnormality of the skele HP:0100073 Pseudoepiphyses of the 4th toeAbnormality of the skele HP:0009389 Pseudoepiphyses of the 5th fingerAbnormality of the skele HP:0100084 Pseudoepiphyses of the 5th toeAbnormality of the skele HP:0010253 Pseudoepiphyses of the distal phalanges of the handAbnormality of the skele HP:0010120 Pseudoepiphyses of the halluxAbnormality of the skele HP:0009193 Pseudoepiphyses of the metacarpalsAbnormality of the skele HP:0010264 Pseudoepiphyses of the middle phalanges of the handAbnormality of the skele HP:0010235 Pseudoepiphyses of the phalanges of the handAbnormality of the skele HP:0010275 Pseudoepiphyses of the proximal phalanges of the handAbnormality of the skele HP:0010169 Pseudoepiphyses of the toesAbnormality of the skele HP:0010022 Pseudoepiphysis of the 1st metacarpalAbnormality of the skele HP:0010156 Pseudoepiphysis of the 1st metatarsalAbnormality of the skele HP:0010221 Pseudoepiphysis of the 2nd metacarpalAbnormality of the skele HP:0010223 Pseudoepiphysis of the 3rd metacarpalAbnormality of the skele HP:0010225 Pseudoepiphysis of the 4th metacarpalAbnormality of the skele HP:0010227 Pseudoepiphysis of the 5th metacarpalAbnormality of the skele HP:0009509 Pseudoepiphysis of the distal phalanx of the 2nAbnormality of the skele HP:0100107 Pseudoepiphysis of the distal phalanx of the 2nd toeAbnormality of the skele HP:0009342 Pseudoepiphysis of the distal phalanx of the 3rdAbnormality of the skele HP:0100142 Pseudoepiphysis of the distal phalanx of the 3rd toeAbnormality of the skele HP:0009257 Pseudoepiphysis of the distal phalanx of the 4thAbnormality of the skele HP:0100176 Pseudoepiphysis of the distal phalanx of the 4th toeAbnormality of the skele HP:0009188 Pseudoepiphysis of the distal phalanx of the 5thAbnormality of the skele HP:0100209 Pseudoepiphysis of the distal phalanx of the 5th toeAbnormality of the skele HP:0010145 Pseudoepiphysis of the distal phalanx of the halluxAbnormality of the skele HP:0009682 Pseudoepiphysis of the distal phalanx of the tAbnormality of the skele HP:0009520 Pseudoepiphysis of the middle phalanx of the 2nd fingerAbnormality of the skele HP:0100118 Pseudoepiphysis of the middle phalanx of the 2nd toeAbnormality of the skele HP:0009328 Pseudoepiphysis of the middle phalanx of the 3Abnormality of the skele HP:0100153 Pseudoepiphysis of the middle phalanx of the 3rd toeAbnormality of the skele HP:0009221 Pseudoepiphysis of the middle phalanx of the 4tAbnormality of the skele HP:0100187 Pseudoepiphysis of the middle phalanx of the 4th toeAbnormality of the skele HP:0009210 Pseudoepiphysis of the middle phalanx of the 5tAbnormality of the skele HP:0100220 Pseudoepiphysis of the middle phalanx of the 5th toeAbnormality of the skele HP:0009531 Pseudoepiphysis of the proximal phalanx of the 2nd fingerAbnormality of the skele HP:0100129 Pseudoepiphysis of the proximal phalanx of the 2nd toeAbnormality of the skele HP:0009353 Pseudoepiphysis of the proximal phalanx of the

Abnormality of the skele HP:0100164 Pseudoepiphysis of the proximal phalanx of the 3rd toeAbnormality of the skele HP:0009268 Pseudoepiphysis of the proximal phalanx of the Abnormality of the skele HP:0100198 Pseudoepiphysis of the proximal phalanx of the 4th toeAbnormality of the skele HP:0009200 Pseudoepiphysis of the proximal phalanx of the Abnormality of the skele HP:0100231 Pseudoepiphysis of the proximal phalanx of the 5th toeAbnormality of the skele HP:0010134 Pseudoepiphysis of the proximal phalanx of the halluxAbnormality of the skele HP:0009671 Pseudoepiphysis of the proximal phalanx of thAbnormality of the skele HP:0009693 Pseudoepiphysis of the thumbAbnormality of the skele HP:0001059 PterygiumAbnormality of the skele HP:0007530 Punctate palmoplantar hyperkeratosisAbnormality of the skele HP:0008420 Punctate vertebral calcificationsAbnormality of the skele HP:0009788 Quadriceps aplasiaAbnormality of the skele HP:0009050 Quadriceps muscle atrophyAbnormality of the skele HP:0000897 Rachitic rosaryAbnormality of the skele HP:0002986 Radial bowingAbnormality of the skele HP:0004059 Radial club handAbnormality of the skele HP:0009466 Radial deviation of fingerAbnormality of the skele HP:0009467 Radial deviation of the 2nd fingerAbnormality of the skele HP:0009462 Radial deviation of the 3rd fingerAbnormality of the skele HP:0009279 Radial deviation of the 4th fingerAbnormality of the skele HP:0009486 Radial deviation of the handAbnormality of the skele HP:0009485 Radial deviation of the hand or of fingers of the handAbnormality of the skele HP:0005895 Radial deviation of thumb terminal phalanxAbnormality of the skele HP:0003048 Radial head subluxationAbnormality of the skele HP:0006190 Radially deviated wristsAbnormality of the skele HP:0006439 Radioulnar dislocationAbnormality of the skele HP:0002974 Radioulnar synostosisAbnormality of the skele HP:0002757 Recurrent fracturesAbnormality of the skele HP:0005001 Recurrent patellar dislocationAbnormality of the skele HP:0012770 Reduced arm spanAbnormality of the skele HP:0004349 Reduced bone mineral densityAbnormality of the skele HP:0006019 Reduced proximal interphalangeal joint spaceAbnormality of the skele HP:0002766 Relatively short spineAbnormality of the skele HP:0006596 Restricted chest movementAbnormality of the skele HP:0005193 Restricted large joint movementAbnormality of the skele HP:0008433 Reversed usual vertebral column curvesAbnormality of the skele HP:0001370 Rheumatoid arthritisAbnormality of the skele HP:0008905 RhizomeliaAbnormality of the skele HP:0004991 Rhizomelic arm shorteningAbnormality of the skele HP:0012106 Rhizomelic leg shorteningAbnormality of the skele HP:0009379 Rhomboid or triangular shaped 5th finger distalAbnormality of the skele HP:0005910 Rhomboid or triangular shaped 5th finger middAbnormality of the skele HP:0009236 Rhomboid or triangular shaped 5th finger proxiAbnormality of the skele HP:0000896 Rib exostosesAbnormality of the skele HP:0000902 Rib fusionAbnormality of the skele HP:0006655 Rib segmentation abnormalitiesAbnormality of the skele HP:0002748 RicketsAbnormality of the skele HP:0006463 Rickets of the lower limbsAbnormality of the skele HP:0001838 Rocker bottom footAbnormality of the skele HP:0100670 Rough bone trabeculation

Abnormality of the skele HP:0003843 Round epiphyses of the upper limbsAbnormality of the skele HP:0003899 Round humeral epiphysesAbnormality of the skele HP:0004006 Round radial epiphysesAbnormality of the skele HP:0006026 Rounded epiphysesAbnormality of the skele HP:0005844 Rounded middle phalanx of fingerAbnormality of the skele HP:0006381 Rudimentary fibulaAbnormality of the skele HP:0005676 Rudimentary postaxial polydactyly of handsAbnormality of the skele HP:0004986 Rudimentary to absent fibulaeAbnormality of the skele HP:0006426 Rudimentary to absent tibiaeAbnormality of the skele HP:0000960 Sacral dimpleAbnormality of the skele HP:0005765 Sacral meningoceleAbnormality of the skele HP:0008490 Sacral segmentation defectsAbnormality of the skele HP:0010767 Sacrococcygeal pilonidal abnormalityAbnormality of the skele HP:0012317 Sacroiliac arthritisAbnormality of the skele HP:0012449 Sacroiliac joint synovitisAbnormality of the skele HP:0005661 Salmonella osteomyelitisAbnormality of the skele HP:0001852 Sandal gapAbnormality of the skele HP:0004618 Sandwich appearance of vertebral bodiesAbnormality of the skele HP:0010317 Scapular aplasiaAbnormality of the skele HP:0000918 Scapular exostosesAbnormality of the skele HP:0009060 Scapular muscle atrophyAbnormality of the skele HP:0003691 Scapular wingingAbnormality of the skele HP:0006595 Scapulohumeral synostosisAbnormality of the skele HP:0009054 Scapuloperoneal myopathyAbnormality of the skele HP:0008478 Scheuermann-like vertebral changesAbnormality of the skele HP:0011868 SciaticaAbnormality of the skele HP:0100918 Sclerosis of 2nd finger phalanxAbnormality of the skele HP:0100926 Sclerosis of 2nd toe phalanxAbnormality of the skele HP:0100919 Sclerosis of 3rd finger phalanxAbnormality of the skele HP:0100927 Sclerosis of 3rd toe phalanxAbnormality of the skele HP:0100920 Sclerosis of 4th finger phalanxAbnormality of the skele HP:0100928 Sclerosis of 4th toe phalanxAbnormality of the skele HP:0100921 Sclerosis of 5th finger phalanxAbnormality of the skele HP:0100929 Sclerosis of 5th toe phalanxAbnormality of the skele HP:0100915 Sclerosis of distal finger phalanxAbnormality of the skele HP:0100948 Sclerosis of distal toe phalanxAbnormality of the skele HP:0100899 Sclerosis of finger phalanxAbnormality of the skele HP:0100925 Sclerosis of foot boneAbnormality of the skele HP:0100930 Sclerosis of hallux phalanxAbnormality of the skele HP:0004054 Sclerosis of hand boneAbnormality of the skele HP:0004290 Sclerosis of hand bones with transverse striationsAbnormality of the skele HP:0003933 Sclerosis of humeral diaphysisAbnormality of the skele HP:0003854 Sclerosis of metaphyses of the upper limbsAbnormality of the skele HP:0100916 Sclerosis of middle finger phalanxAbnormality of the skele HP:0100947 Sclerosis of middle toe phalanxAbnormality of the skele HP:0100917 Sclerosis of proximal finger phalanxAbnormality of the skele HP:0100946 Sclerosis of proximal toe phalanxAbnormality of the skele HP:0100914 Sclerosis of the 1st metacarpalAbnormality of the skele HP:0100945 Sclerosis of the 1st metatarsalAbnormality of the skele HP:0100900 Sclerosis of the distal phalanx of the 2nd finger

Abnormality of the skele HP:0100939 Sclerosis of the distal phalanx of the 2nd toeAbnormality of the skele HP:0100901 Sclerosis of the distal phalanx of the 3rd fingerAbnormality of the skele HP:0100940 Sclerosis of the distal phalanx of the 3rd toeAbnormality of the skele HP:0100902 Sclerosis of the distal phalanx of the 4th fingerAbnormality of the skele HP:0100941 Sclerosis of the distal phalanx of the 4th toeAbnormality of the skele HP:0100903 Sclerosis of the distal phalanx of the 5th fingerAbnormality of the skele HP:0100942 Sclerosis of the distal phalanx of the 5th toeAbnormality of the skele HP:0100944 Sclerosis of the distal phalanx of the halluxAbnormality of the skele HP:0100912 Sclerosis of the distal phalanx of the thumbAbnormality of the skele HP:0100904 Sclerosis of the middle phalanx of the 2nd fingerAbnormality of the skele HP:0100935 Sclerosis of the middle phalanx of the 2nd toeAbnormality of the skele HP:0100905 Sclerosis of the middle phalanx of the 3rd fingerAbnormality of the skele HP:0100936 Sclerosis of the middle phalanx of the 3rd toeAbnormality of the skele HP:0100906 Sclerosis of the middle phalanx of the 4th fingerAbnormality of the skele HP:0100937 Sclerosis of the middle phalanx of the 4th toeAbnormality of the skele HP:0100907 Sclerosis of the middle phalanx of the 5th fingerAbnormality of the skele HP:0100938 Sclerosis of the middle phalanx of the 5th toeAbnormality of the skele HP:0100908 Sclerosis of the proximal phalanx of the 2nd fingerAbnormality of the skele HP:0100931 Sclerosis of the proximal phalanx of the 2nd toAbnormality of the skele HP:0100909 Sclerosis of the proximal phalanx of the 3rd fingerAbnormality of the skele HP:0100932 Sclerosis of the proximal phalanx of the 3rd toeAbnormality of the skele HP:0100910 Sclerosis of the proximal phalanx of the 4th fingerAbnormality of the skele HP:0100933 Sclerosis of the proximal phalanx of the 4th toeAbnormality of the skele HP:0100911 Sclerosis of the proximal phalanx of the 5th fingerAbnormality of the skele HP:0100934 Sclerosis of the proximal phalanx of the 5th toeAbnormality of the skele HP:0100943 Sclerosis of the proximal phalanx of the halluxAbnormality of the skele HP:0100913 Sclerosis of the proximal phalanx of the thumbAbnormality of the skele HP:0100922 Sclerosis of thumb phalanxAbnormality of the skele HP:0100924 Sclerosis of toe phalanxAbnormality of the skele HP:0003853 Sclerosis with transverse striations in metaphyses of the upper limbsAbnormality of the skele HP:0003966 Sclerotic foci in forearm bonesAbnormality of the skele HP:0004289 Sclerotic foci in hand bonesAbnormality of the skele HP:0003932 Sclerotic foci of humeral diaphysisAbnormality of the skele HP:0003952 Sclerotic foci of metaphyses of the elbowAbnormality of the skele HP:0003880 Sclerotic foci of the humerusAbnormality of the skele HP:0004240 Sclerotic foci within carpal bonesAbnormality of the skele HP:0003967 Sclerotic forearm bonesAbnormality of the skele HP:0003918 Sclerotic humeral metaphysisAbnormality of the skele HP:0003919 Sclerotic humeral metaphysis with longitudinal striationsAbnormality of the skele HP:0004007 Sclerotic radial epiphysesAbnormality of the skele HP:0004022 Sclerotic radial metaphysis with longitudinal striationsAbnormality of the skele HP:0001474 Sclerotic scapulaeAbnormality of the skele HP:0004576 Sclerotic vertebral endplatesAbnormality of the skele HP:0002650 ScoliosisAbnormality of the skele HP:0008125 Second metatarsal posteriorly placedAbnormality of the skele HP:0005824 Second toe clinodactylyAbnormality of the skele HP:0003095 Septic arthritisAbnormality of the skele HP:0006069 Severe carpal ossification delayAbnormality of the skele HP:0200083 Severe limb shorteningAbnormality of the skele HP:0005897 Severe osteoporosis

Abnormality of the skele HP:0004565 Severe platyspondylyAbnormality of the skele HP:0003182 Shallow acetabular fossaeAbnormality of the skele HP:0000914 Shield chestAbnormality of the skele HP:0010034 Short 1st metacarpalAbnormality of the skele HP:0009536 Short 2nd fingerAbnormality of the skele HP:0010038 Short 2nd metacarpalAbnormality of the skele HP:0001885 Short 2nd toeAbnormality of the skele HP:0009461 Short 3rd fingerAbnormality of the skele HP:0010041 Short 3rd metacarpalAbnormality of the skele HP:0005643 Short 3rd toeAbnormality of the skele HP:0009280 Short 4th fingerAbnormality of the skele HP:0010044 Short 4th metacarpalAbnormality of the skele HP:0008093 Short 4th toeAbnormality of the skele HP:0009237 Short 5th fingerAbnormality of the skele HP:0010047 Short 5th metacarpalAbnormality of the skele HP:0011917 Short 5th toeAbnormality of the skele HP:0000894 Short claviclesAbnormality of the skele HP:0000941 Short diaphysesAbnormality of the skele HP:0011927 Short digitAbnormality of the skele HP:0009882 Short distal phalanx of fingerAbnormality of the skele HP:0010103 Short distal phalanx of halluxAbnormality of the skele HP:0009566 Short distal phalanx of the 2nd fingerAbnormality of the skele HP:0010433 Short distal phalanx of the 2nd toeAbnormality of the skele HP:0004180 Short distal phalanx of the 3rd fingerAbnormality of the skele HP:0100389 Short distal phalanx of the 3rd toeAbnormality of the skele HP:0009290 Short distal phalanx of the 4th fingerAbnormality of the skele HP:0100390 Short distal phalanx of the 4th toeAbnormality of the skele HP:0004227 Short distal phalanx of the 5th fingerAbnormality of the skele HP:0100391 Short distal phalanx of the 5th toeAbnormality of the skele HP:0009650 Short distal phalanx of the thumbAbnormality of the skele HP:0001857 Short distal phalanx of toeAbnormality of the skele HP:0100864 Short femoral neckAbnormality of the skele HP:0003097 Short femurAbnormality of the skele HP:0004704 Short fifth metatarsalAbnormality of the skele HP:0009381 Short fingerAbnormality of the skele HP:0010105 Short first metatarsalAbnormality of the skele HP:0001773 Short footAbnormality of the skele HP:0005773 Short forearmAbnormality of the skele HP:0004689 Short fourth metatarsalAbnormality of the skele HP:0010109 Short halluxAbnormality of the skele HP:0005792 Short humerusAbnormality of the skele HP:0100866 Short iliac bonesAbnormality of the skele HP:0003026 Short long bonesAbnormality of the skele HP:0006385 Short lower limbsAbnormality of the skele HP:0010049 Short metacarpalAbnormality of the skele HP:0006161 Short metacarpals with rounded proximal endsAbnormality of the skele HP:0010743 Short metatarsalAbnormality of the skele HP:0005819 Short middle phalanx of fingerAbnormality of the skele HP:0009577 Short middle phalanx of the 2nd fingerAbnormality of the skele HP:0010435 Short middle phalanx of the 2nd toe

Abnormality of the skele HP:0009439 Short middle phalanx of the 3rd fingerAbnormality of the skele HP:0100392 Short middle phalanx of the 3rd toeAbnormality of the skele HP:0009295 Short middle phalanx of the 4th fingerAbnormality of the skele HP:0100393 Short middle phalanx of the 4th toeAbnormality of the skele HP:0004220 Short middle phalanx of the 5th fingerAbnormality of the skele HP:0100394 Short middle phalanx of the 5th toeAbnormality of the skele HP:0003795 Short middle phalanx of toeAbnormality of the skele HP:0004279 Short palmAbnormality of the skele HP:0009803 Short phalanx of fingerAbnormality of the skele HP:0010111 Short phalanx of halluxAbnormality of the skele HP:0010431 Short phalanx of the 2nd toeAbnormality of the skele HP:0100366 Short phalanx of the 3rd toeAbnormality of the skele HP:0100367 Short phalanx of the 4th toeAbnormality of the skele HP:0100368 Short phalanx of the 5th toeAbnormality of the skele HP:0009660 Short phalanx of the thumbAbnormality of the skele HP:0006045 Short pointed phalangesAbnormality of the skele HP:0010241 Short proximal phalanx of fingerAbnormality of the skele HP:0010107 Short proximal phalanx of halluxAbnormality of the skele HP:0009597 Short proximal phalanx of the 2nd fingerAbnormality of the skele HP:0010437 Short proximal phalanx of the 2nd toeAbnormality of the skele HP:0009459 Short proximal phalanx of the 3rd fingerAbnormality of the skele HP:0100395 Short proximal phalanx of the 3rd toeAbnormality of the skele HP:0009301 Short proximal phalanx of the 4th fingerAbnormality of the skele HP:0100396 Short proximal phalanx of the 4th toeAbnormality of the skele HP:0009226 Short proximal phalanx of the 5th fingerAbnormality of the skele HP:0100397 Short proximal phalanx of the 5th toeAbnormality of the skele HP:0009638 Short proximal phalanx of thumbAbnormality of the skele HP:0011928 Short proximal phalanx of toeAbnormality of the skele HP:0000773 Short ribsAbnormality of the skele HP:0011845 Short second metatarsalAbnormality of the skele HP:0000879 Short sternumAbnormality of the skele HP:0004686 Short third metatarsalAbnormality of the skele HP:0010306 Short thoraxAbnormality of the skele HP:0009778 Short thumbAbnormality of the skele HP:0005736 Short tibiaAbnormality of the skele HP:0001831 Short toeAbnormality of the skele HP:0001248 Short tubular bones (hand)Abnormality of the skele HP:0006118 Shortening of all distal phalanges of the fingersAbnormality of the skele HP:0005793 Shortening of all distal phalanges of the toesAbnormality of the skele HP:0005720 Shortening of all metacarpalsAbnormality of the skele HP:0006110 Shortening of all middle phalanges of the fingerAbnormality of the skele HP:0006239 Shortening of all middle phalanges of the toesAbnormality of the skele HP:0011910 Shortening of all phalanges of fingersAbnormality of the skele HP:0005035 Shortening of all phalanges of the toesAbnormality of the skele HP:0006144 Shortening of all proximal phalanges of the fingAbnormality of the skele HP:0008117 Shortening of the talar neckAbnormality of the skele HP:0006436 Shortening of the tibiaAbnormality of the skele HP:0003834 Shoulder dislocationAbnormality of the skele HP:0003044 Shoulder flexion contractureAbnormality of the skele HP:0003547 Shoulder girdle muscle weakness

Abnormality of the skele HP:0008952 Shoulder muscle hypoplasiaAbnormality of the skele HP:0003835 Shoulder subluxationAbnormality of the skele HP:0006216 Single interphalangeal crease of fifth fingerAbnormality of the skele HP:0000954 Single transverse palmar creaseAbnormality of the skele HP:0010497 SirenomeliaAbnormality of the skele HP:0008416 Six lumbar vertebraeAbnormality of the skele HP:0002652 Skeletal dysplasiaAbnormality of the skele HP:0012296 Slender distal phalanx of fingerAbnormality of the skele HP:0001238 Slender fingerAbnormality of the skele HP:0003969 Slender forearm bonesAbnormality of the skele HP:0003934 Slender humeral diaphysisAbnormality of the skele HP:0003882 Slender humerusAbnormality of the skele HP:0003100 Slender long boneAbnormality of the skele HP:0004993 Slender long bones with narrow diaphysesAbnormality of the skele HP:0006236 Slender metacarpalsAbnormality of the skele HP:0012295 Slender middle phalanx of fingerAbnormality of the skele HP:0012297 Slender proximal phalanx of fingerAbnormality of the skele HP:0011308 Slender toeAbnormality of the skele HP:0003992 Slender ulnaAbnormality of the skele HP:0003920 Sloping humeral metaphysisAbnormality of the skele HP:0004008 Sloping radial epiphysesAbnormality of the skele HP:0004023 Sloping radial metaphysisAbnormality of the skele HP:0004045 Sloping ulnar metaphysisAbnormality of the skele HP:0006584 Small abnormally formed scapulaeAbnormality of the skele HP:0004629 Small cervical vertebral bodiesAbnormality of the skele HP:0012283 Small distal femoral epiphysisAbnormality of the skele HP:0010585 Small epiphysesAbnormality of the skele HP:0009496 Small epiphyses of the 2nd fingerAbnormality of the skele HP:0100052 Small epiphyses of the 2nd toeAbnormality of the skele HP:0009418 Small epiphyses of the 3rd fingerAbnormality of the skele HP:0100063 Small epiphyses of the 3rd toeAbnormality of the skele HP:0009401 Small epiphyses of the 4th fingerAbnormality of the skele HP:0100074 Small epiphyses of the 4th toeAbnormality of the skele HP:0009390 Small epiphyses of the 5th fingerAbnormality of the skele HP:0100085 Small epiphyses of the 5th toeAbnormality of the skele HP:0010254 Small epiphyses of the distal phalanges of the handAbnormality of the skele HP:0010121 Small epiphyses of the halluxAbnormality of the skele HP:0009194 Small epiphyses of the metacarpalsAbnormality of the skele HP:0010265 Small epiphyses of the middle phalanges of the handAbnormality of the skele HP:0010236 Small epiphyses of the phalanges of the handAbnormality of the skele HP:0010276 Small epiphyses of the proximal phalanges of the handAbnormality of the skele HP:0010170 Small epiphyses of the toesAbnormality of the skele HP:0003844 Small epiphyses of the upper limbsAbnormality of the skele HP:0010023 Small epiphysis of the 1st metacarpalAbnormality of the skele HP:0010157 Small epiphysis of the 1st metatarsalAbnormality of the skele HP:0009510 Small epiphysis of the distal phalanx of the 2ndAbnormality of the skele HP:0100108 Small epiphysis of the distal phalanx of the 2nd toeAbnormality of the skele HP:0009343 Small epiphysis of the distal phalanx of the 3rd Abnormality of the skele HP:0100143 Small epiphysis of the distal phalanx of the 3rd toeAbnormality of the skele HP:0009258 Small epiphysis of the distal phalanx of the 4th

Abnormality of the skele HP:0100177 Small epiphysis of the distal phalanx of the 4th toeAbnormality of the skele HP:0009148 Small epiphysis of the distal phalanx of the 5th Abnormality of the skele HP:0100210 Small epiphysis of the distal phalanx of the 5th toeAbnormality of the skele HP:0010146 Small epiphysis of the distal phalanx of the halluxAbnormality of the skele HP:0009683 Small epiphysis of the distal phalanx of the thAbnormality of the skele HP:0009521 Small epiphysis of the middle phalanx of the 2nd fingerAbnormality of the skele HP:0100119 Small epiphysis of the middle phalanx of the 2nd toeAbnormality of the skele HP:0009329 Small epiphysis of the middle phalanx of the 3rdAbnormality of the skele HP:0100154 Small epiphysis of the middle phalanx of the 3rd toeAbnormality of the skele HP:0009222 Small epiphysis of the middle phalanx of the 4thAbnormality of the skele HP:0100188 Small epiphysis of the middle phalanx of the 4th toeAbnormality of the skele HP:0009211 Small epiphysis of the middle phalanx of the 5thAbnormality of the skele HP:0100221 Small epiphysis of the middle phalanx of the 5th toeAbnormality of the skele HP:0009532 Small epiphysis of the proximal phalanx of the 2nd fingerAbnormality of the skele HP:0100130 Small epiphysis of the proximal phalanx of the 2nd toeAbnormality of the skele HP:0009354 Small epiphysis of the proximal phalanx of the 3Abnormality of the skele HP:0100165 Small epiphysis of the proximal phalanx of the 3rd toeAbnormality of the skele HP:0009269 Small epiphysis of the proximal phalanx of the 4Abnormality of the skele HP:0100199 Small epiphysis of the proximal phalanx of the 4th toeAbnormality of the skele HP:0009159 Small epiphysis of the proximal phalanx of the 5Abnormality of the skele HP:0100232 Small epiphysis of the proximal phalanx of the 5th toeAbnormality of the skele HP:0010135 Small epiphysis of the proximal phalanx of the halluxAbnormality of the skele HP:0009672 Small epiphysis of the proximal phalanx of theAbnormality of the skele HP:0200055 Small handAbnormality of the skele HP:0003900 Small humeral epiphysesAbnormality of the skele HP:0010487 Small hypothenar eminenceAbnormality of the skele HP:0012284 Small proximal tibial epiphysesAbnormality of the skele HP:0004010 Small radial epiphysesAbnormality of the skele HP:0003185 Small sacroiliac notchesAbnormality of the skele HP:0004247 Small scaphoidAbnormality of the skele HP:0001245 Small thenar eminenceAbnormality of the skele HP:0009694 Small thumb epiphysisAbnormality of the skele HP:0004255 Small trapeziumAbnormality of the skele HP:0004258 Small trapezoid boneAbnormality of the skele HP:0002773 Small vertebral bodiesAbnormality of the skele HP:0006162 Soft tissue swelling of interphalangeal jointsAbnormality of the skele HP:0003837 Soft-tissue ossification around the shouldersAbnormality of the skele HP:0002752 Sparse bone trabeculaeAbnormality of the skele HP:0012307 Spatulate ribsAbnormality of the skele HP:0001222 Spatulate thumbsAbnormality of the skele HP:0003416 Spinal canal stenosisAbnormality of the skele HP:0008443 Spinal deformitiesAbnormality of the skele HP:0008423 Spinal dysplasiaAbnormality of the skele HP:0005881 Spinal instabilityAbnormality of the skele HP:0003306 Spinal rigidityAbnormality of the skele HP:0005733 Spinal stenosis with reduced interpedicular disAbnormality of the skele HP:0007613 Spinous keratoses of palms and solesAbnormality of the skele HP:0200003 Splayed epiphysesAbnormality of the skele HP:0011307 Splayed toesAbnormality of the skele HP:0001839 Split foot

Abnormality of the skele HP:0001171 Split handAbnormality of the skele HP:0002651 Spondyloepimetaphyseal dysplasiaAbnormality of the skele HP:0002655 Spondyloepiphyseal dysplasiaAbnormality of the skele HP:0003302 SpondylolisthesisAbnormality of the skele HP:0008489 Spondylolisthesis at L5-S1Abnormality of the skele HP:0003304 SpondylolysisAbnormality of the skele HP:0002657 Spondylometaphyseal dysplasiaAbnormality of the skele HP:0000912 Sprengel anomalyAbnormality of the skele HP:0003922 Spurred humeral metaphysisAbnormality of the skele HP:0003855 Spurred metaphyses of the upper limbsAbnormality of the skele HP:0004025 Spurred radial metaphysisAbnormality of the skele HP:0004046 Spurred ulnar metaphysisAbnormality of the skele HP:0004028 Spurs of radial diaphysisAbnormality of the skele HP:0003923 Square humeral metaphysisAbnormality of the skele HP:0003278 Square pelvisAbnormality of the skele HP:0003177 Squared iliac bonesAbnormality of the skele HP:0008418 Squared-off platyspondylyAbnormality of the skele HP:0010455 Steep acetabular roofAbnormality of the skele HP:0100254 Stenosis of the medullary cavity of the long bonesAbnormality of the skele HP:0006637 Sternal punctate calcificationsAbnormality of the skele HP:0005198 Stiff interphalangeal jointsAbnormality of the skele HP:0009742 Stiff shouldersAbnormality of the skele HP:0004241 Stippled calcification in carpal bonesAbnormality of the skele HP:0004291 Stippled calcification of hand bonesAbnormality of the skele HP:0003924 Stippled calcification of humeral metaphysisAbnormality of the skele HP:0003941 Stippled calcification of the elbowAbnormality of the skele HP:0003901 Stippled calcification of the humeral epiphysesAbnormality of the skele HP:0003836 Stippled calcification of the shoulderAbnormality of the skele HP:0008838 Stippled calcification proximal humeral epiphysesAbnormality of the skele HP:0002764 Stippled chondral calcificationAbnormality of the skele HP:0009497 Stippling of the epiphyses of the 2nd fingerAbnormality of the skele HP:0100053 Stippling of the epiphyses of the 2nd toeAbnormality of the skele HP:0009419 Stippling of the epiphyses of the 3rd fingerAbnormality of the skele HP:0100064 Stippling of the epiphyses of the 3rd toeAbnormality of the skele HP:0009402 Stippling of the epiphyses of the 4th fingerAbnormality of the skele HP:0100075 Stippling of the epiphyses of the 4th toeAbnormality of the skele HP:0009391 Stippling of the epiphyses of the 5th fingerAbnormality of the skele HP:0100086 Stippling of the epiphyses of the 5th toeAbnormality of the skele HP:0010255 Stippling of the epiphyses of the distal phalanges of the handAbnormality of the skele HP:0010122 Stippling of the epiphyses of the halluxAbnormality of the skele HP:0010266 Stippling of the epiphyses of the middle phalanges of the handAbnormality of the skele HP:0010277 Stippling of the epiphyses of the proximal phalanges of the handAbnormality of the skele HP:0010158 Stippling of the epiphysis of the 1st metatarsalAbnormality of the skele HP:0009511 Stippling of the epiphysis of the distal phalanx Abnormality of the skele HP:0100109 Stippling of the epiphysis of the distal phalanx of the 2nd toeAbnormality of the skele HP:0009344 Stippling of the epiphysis of the distal phalanx oAbnormality of the skele HP:0100144 Stippling of the epiphysis of the distal phalanx of the 3rd toeAbnormality of the skele HP:0009259 Stippling of the epiphysis of the distal phalanx oAbnormality of the skele HP:0100178 Stippling of the epiphysis of the distal phalanx of the 4th toeAbnormality of the skele HP:0009165 Stippling of the epiphysis of the distal phalanx o

Abnormality of the skele HP:0100211 Stippling of the epiphysis of the distal phalanx of the 5th toeAbnormality of the skele HP:0010147 Stippling of the epiphysis of the distal phalanx of the halluxAbnormality of the skele HP:0009684 Stippling of the epiphysis of the distal phalanx Abnormality of the skele HP:0009522 Stippling of the epiphysis of the middle phalanx of the 2nd fingerAbnormality of the skele HP:0100120 Stippling of the epiphysis of the middle phalanx of the 2nd toeAbnormality of the skele HP:0009330 Stippling of the epiphysis of the middle phalanx Abnormality of the skele HP:0100155 Stippling of the epiphysis of the middle phalanx of the 3rd toeAbnormality of the skele HP:0009223 Stippling of the epiphysis of the middle phalanx Abnormality of the skele HP:0100189 Stippling of the epiphysis of the middle phalanx of the 4th toeAbnormality of the skele HP:0009212 Stippling of the epiphysis of the middle phalanx Abnormality of the skele HP:0100222 Stippling of the epiphysis of the middle phalanx of the 5th toeAbnormality of the skele HP:0009533 Stippling of the epiphysis of the proximal phalanx of the 2nd fingerAbnormality of the skele HP:0100131 Stippling of the epiphysis of the proximal phalanx of the 2nd toeAbnormality of the skele HP:0009355 Stippling of the epiphysis of the proximal phalanAbnormality of the skele HP:0100166 Stippling of the epiphysis of the proximal phalanx of the 3rd toeAbnormality of the skele HP:0009270 Stippling of the epiphysis of the proximal phalanAbnormality of the skele HP:0100200 Stippling of the epiphysis of the proximal phalanx of the 4th toeAbnormality of the skele HP:0009201 Stippling of the epiphysis of the proximal phalanAbnormality of the skele HP:0100233 Stippling of the epiphysis of the proximal phalanx of the 5th toeAbnormality of the skele HP:0010136 Stippling of the epiphysis of the proximal phalanx of the halluxAbnormality of the skele HP:0009673 Stippling of the epiphysis of the proximal phalaAbnormality of the skele HP:0009695 Stippling of thumb epiphysisAbnormality of the skele HP:0006587 Straight claviclesAbnormality of the skele HP:0005092 Streaky metaphyseal sclerosisAbnormality of the skele HP:0010219 Structural foot deformityAbnormality of the skele HP:0007618 Subcutaneous calcificationAbnormality of the skele HP:0004294 Subluxation of metacarpal phalangeal jointsAbnormality of the skele HP:0004230 Subluxation of the proximal interphalangeal joint Abnormality of the skele HP:0004269 Subluxation of the small joints of the handAbnormality of the skele HP:0003106 Subperiosteal erosions due to secondary hyperparathyroidismAbnormality of the skele HP:0000917 Superior pectus carinatumAbnormality of the skele HP:0005820 Superior rib anomaliesAbnormality of the skele HP:0009144 Supernumerary bones of the axial skeletonAbnormality of the skele HP:0005917 Supernumerary metacarpal bonesAbnormality of the skele HP:0005815 Supernumerary ribsAbnormality of the skele HP:0002946 Supernumerary vertebraeAbnormality of the skele HP:0004598 Supernumerary vertebral ossification centersAbnormality of the skele HP:0006150 Swan neck-like deformities of the fingersAbnormality of the skele HP:0006253 Swelling of proximal interphalangeal jointsAbnormality of the skele HP:0011311 Sydney creaseAbnormality of the skele HP:0010191 Symphalangism affecting the distal phalanges of the toesAbnormality of the skele HP:0010419 Symphalangism affecting the distal phalanx of the 2nd toeAbnormality of the skele HP:0100476 Symphalangism affecting the distal phalanx of the 3rd toeAbnormality of the skele HP:0100477 Symphalangism affecting the distal phalanx of the 4th toeAbnormality of the skele HP:0100478 Symphalangism affecting the distal phalanx of the 5th toeAbnormality of the skele HP:0010082 Symphalangism affecting the distal phalanx of the halluxAbnormality of the skele HP:0010200 Symphalangism affecting the middle phalanges of the toesAbnormality of the skele HP:0010410 Symphalangism affecting the middle phalanx of the 2nd toeAbnormality of the skele HP:0100470 Symphalangism affecting the middle phalanx of the 3rd toeAbnormality of the skele HP:0100471 Symphalangism affecting the middle phalanx of the 4th toe

Abnormality of the skele HP:0100472 Symphalangism affecting the middle phalanx of the 5th toeAbnormality of the skele HP:0010353 Symphalangism affecting the phalanges of the Abnormality of the skele HP:0010365 Symphalangism affecting the phalanges of the 3rd toeAbnormality of the skele HP:0010377 Symphalangism affecting the phalanges of the 4th toeAbnormality of the skele HP:0010389 Symphalangism affecting the phalanges of the 5th toeAbnormality of the skele HP:0010064 Symphalangism affecting the phalanges of the halluxAbnormality of the skele HP:0009773 Symphalangism affecting the phalanges of theAbnormality of the skele HP:0010179 Symphalangism affecting the phalanges of the toesAbnormality of the skele HP:0009857 Symphalangism affecting the proximal phalanges of the handAbnormality of the skele HP:0010209 Symphalangism affecting the proximal phalanges of the toesAbnormality of the skele HP:0009586 Symphalangism affecting the proximal phalanx oAbnormality of the skele HP:0010401 Symphalangism affecting the proximal phalanx of the 2nd toeAbnormality of the skele HP:0009455 Symphalangism affecting the proximal phalanx oAbnormality of the skele HP:0100473 Symphalangism affecting the proximal phalanx of the 3rd toeAbnormality of the skele HP:0009314 Symphalangism affecting the proximal phalanx oAbnormality of the skele HP:0100474 Symphalangism affecting the proximal phalanx of the 4th toeAbnormality of the skele HP:0009232 Symphalangism affecting the proximal phalanx oAbnormality of the skele HP:0100475 Symphalangism affecting the proximal phalanx of the 5th toeAbnormality of the skele HP:0010091 Symphalangism affecting the proximal phalanx of the halluxAbnormality of the skele HP:0009574 Symphalangism of middle phalanx of 2nd fingeAbnormality of the skele HP:0009435 Symphalangism of middle phalanx of 3rd fingerAbnormality of the skele HP:0009308 Symphalangism of middle phalanx of 4th fingerAbnormality of the skele HP:0009178 Symphalangism of middle phalanx of 5th fingerAbnormality of the skele HP:0009849 Symphalangism of middle phalanx of fingerAbnormality of the skele HP:0009545 Symphalangism of the 2nd fingerAbnormality of the skele HP:0009445 Symphalangism of the 3rd fingerAbnormality of the skele HP:0004197 Symphalangism of the 4th fingerAbnormality of the skele HP:0004218 Symphalangism of the 5th fingerAbnormality of the skele HP:0009598 Symphalangism of the proximal phalanx of the 2Abnormality of the skele HP:0100483 Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsalAbnormality of the skele HP:0009483 Symphalangism of the proximal phalanx of the 3Abnormality of the skele HP:0100484 Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsalAbnormality of the skele HP:0009478 Symphalangism of the proximal phalanx of the 4Abnormality of the skele HP:0100485 Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsalAbnormality of the skele HP:0009234 Symphalangism of the proximal phalanx of the 5Abnormality of the skele HP:0100486 Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsalAbnormality of the skele HP:0009656 Symphalangism of the thumbAbnormality of the skele HP:0001159 SyndactylyAbnormality of the skele HP:0009140 Synostosis involving bones of the feetAbnormality of the skele HP:0009700 Synostosis involving bones of the fingersAbnormality of the skele HP:0004278 Synostosis involving bones of the handAbnormality of the skele HP:0009138 Synostosis involving bones of the lower limbsAbnormality of the skele HP:0100235 Synostosis involving bones of the toesAbnormality of the skele HP:0100238 Synostosis involving bones of the upper limbsAbnormality of the skele HP:0100262 Synostosis involving digitsAbnormality of the skele HP:0001440 Synostosis involving metatarsal bonesAbnormality of the skele HP:0009703 Synostosis involving the 1st metacarpalAbnormality of the skele HP:0010073 Synostosis involving the 1st metatarsalAbnormality of the skele HP:0009705 Synostosis involving the 2nd metacarpalAbnormality of the skele HP:0009706 Synostosis involving the 3rd metacarpal

Abnormality of the skele HP:0009707 Synostosis involving the 4th metacarpalAbnormality of the skele HP:0009708 Synostosis involving the 5th metacarpalAbnormality of the skele HP:0003938 Synostosis involving the elbowAbnormality of the skele HP:0005928 Synostosis involving the fibulaAbnormality of the skele HP:0005929 Synostosis involving the tibiaAbnormality of the skele HP:0005048 Synostosis of carpal bonesAbnormality of the skele HP:0100266 Synostosis of carpals/tarsalsAbnormality of the skele HP:0100240 Synostosis of jointsAbnormality of the skele HP:0100265 Synostosis of metacarpals/metatarsalsAbnormality of the skele HP:0004293 Synostosis of second metacarpal-trapezoidAbnormality of the skele HP:0100488 Synostosis of the proximal phalanx of the hallux with the 1st metatarsalAbnormality of the skele HP:0009640 Synostosis of the proximal phalanx of the thumbAbnormality of the skele HP:0009635 Synostosis of thumb phalanxAbnormality of the skele HP:0003942 Synovial chondromatosis of the elbowAbnormality of the skele HP:0005186 Synovial hypertrophyAbnormality of the skele HP:0100769 SynovitisAbnormality of the skele HP:0001883 TalipesAbnormality of the skele HP:0001884 Talipes calcaneovalgusAbnormality of the skele HP:0008124 Talipes calcaneovarusAbnormality of the skele HP:0004696 Talipes cavus equinovarusAbnormality of the skele HP:0001772 Talipes equinovalgusAbnormality of the skele HP:0001762 Talipes equinovarusAbnormality of the skele HP:0004684 Talipes valgusAbnormality of the skele HP:0008421 Tall lumbar vertebral bodiesAbnormality of the skele HP:0005682 Talocalcaneal synostosisAbnormality of the skele HP:0009884 Tapered distal phalanges of fingerAbnormality of the skele HP:0001182 Tapered fingerAbnormality of the skele HP:0003883 Tapered humerusAbnormality of the skele HP:0006108 Tapered metacarpalsAbnormality of the skele HP:0006192 Tapered phalanx of fingerAbnormality of the skele HP:0011309 Tapered toeAbnormality of the skele HP:0006224 Tapering pointed ends of distal finger phalangeAbnormality of the skele HP:0001775 Tarsal osteovalgusAbnormality of the skele HP:0008131 Tarsal stipplingAbnormality of the skele HP:0008368 Tarsal synostosisAbnormality of the skele HP:0100329 Tarsometatarsal synostosisAbnormality of the skele HP:0100550 Tendon ruptureAbnormality of the skele HP:0010874 Tendon xanthomatosisAbnormality of the skele HP:0003057 TetraameliaAbnormality of the skele HP:0003393 Thenar muscle atrophyAbnormality of the skele HP:0004690 Thickened Achilles tendonAbnormality of the skele HP:0100039 Thickened cortex of bonesAbnormality of the skele HP:0000935 Thickened cortex of long bonesAbnormality of the skele HP:0000900 Thickened ribsAbnormality of the skele HP:0006650 Thickening of the lateral border of the scapulaAbnormality of the skele HP:0006193 Thimble-shaped middle phalanges of handAbnormality of the skele HP:0002753 Thin bony cortexAbnormality of the skele HP:0006645 Thin claviclesAbnormality of the skele HP:0006470 Thin long bone diaphysesAbnormality of the skele HP:0006086 Thin metacarpal cortices

Abnormality of the skele HP:0008078 Thin metatarsal corticesAbnormality of the skele HP:0006213 Thin proximal phalanges with broad epiphysesAbnormality of the skele HP:0000883 Thin ribsAbnormality of the skele HP:0008115 Third toe clinodactylyAbnormality of the skele HP:0004962 Thoracic aorta calcificationAbnormality of the skele HP:0006644 Thoracic dysplasiaAbnormality of the skele HP:0008467 Thoracic hemivertebraeAbnormality of the skele HP:0005257 Thoracic hypoplasiaAbnormality of the skele HP:0005659 Thoracic kyphoscoliosisAbnormality of the skele HP:0002942 Thoracic kyphosisAbnormality of the skele HP:0004592 Thoracic platyspondylyAbnormality of the skele HP:0002943 Thoracic scoliosisAbnormality of the skele HP:0100656 Thoracoabdominal wall defectsAbnormality of the skele HP:0008484 Thoracolumbar interpediculate narrownessAbnormality of the skele HP:0003423 Thoracolumbar kyphoscoliosisAbnormality of the skele HP:0005619 Thoracolumbar kyphosisAbnormality of the skele HP:0002944 Thoracolumbar scoliosisAbnormality of the skele HP:0005726 Thumbs hypoplastic with bulbous tipsAbnormality of the skele HP:0002982 Tibial bowingAbnormality of the skele HP:0100345 Tibial deviation of the 2nd toeAbnormality of the skele HP:0100343 Tibial deviation of the 3rd toeAbnormality of the skele HP:0100341 Tibial deviation of the 4th toeAbnormality of the skele HP:0100347 Tibial deviation of the 5th toeAbnormality of the skele HP:0100499 Tibial deviation of toesAbnormality of the skele HP:0009736 Tibial pseudoarthrosisAbnormality of the skele HP:0100694 Tibial torsionAbnormality of the skele HP:0100535 Tibiofibular diastasisAbnormality of the skele HP:0001863 Toe clinodactylyAbnormality of the skele HP:0011916 Toe extensor amyotrophyAbnormality of the skele HP:0001770 Toe syndactylyAbnormality of the skele HP:0006060 Tombstone-shaped proximal phalangesAbnormality of the skele HP:0005680 Tongue-like lumbar vertebral deformitiesAbnormality of the skele HP:0002787 Tracheal calcificationAbnormality of the skele HP:0006432 Trapezoidal distal femoral condylesAbnormality of the skele HP:0005621 Trapezoidal shaped vertebral bodiesAbnormality of the skele HP:0010587 Triangular epiphysesAbnormality of the skele HP:0009498 Triangular epiphyses of the 2nd fingerAbnormality of the skele HP:0100054 Triangular epiphyses of the 2nd toeAbnormality of the skele HP:0009420 Triangular epiphyses of the 3rd fingerAbnormality of the skele HP:0100065 Triangular epiphyses of the 3rd toeAbnormality of the skele HP:0009403 Triangular epiphyses of the 4th fingerAbnormality of the skele HP:0100076 Triangular epiphyses of the 4th toeAbnormality of the skele HP:0009392 Triangular epiphyses of the 5th fingerAbnormality of the skele HP:0100087 Triangular epiphyses of the 5th toeAbnormality of the skele HP:0010256 Triangular epiphyses of the distal phalanges of the handAbnormality of the skele HP:0010123 Triangular epiphyses of the halluxAbnormality of the skele HP:0009171 Triangular epiphyses of the metacarpalsAbnormality of the skele HP:0010267 Triangular epiphyses of the middle phalanges of the handAbnormality of the skele HP:0010238 Triangular epiphyses of the phalanges of the hAbnormality of the skele HP:0010278 Triangular epiphyses of the proximal phalanges of the hand

Abnormality of the skele HP:0009696 Triangular epiphyses of the thumbAbnormality of the skele HP:0010172 Triangular epiphyses of the toesAbnormality of the skele HP:0010025 Triangular epiphysis of the 1st metacarpalAbnormality of the skele HP:0010159 Triangular epiphysis of the 1st metatarsalAbnormality of the skele HP:0009512 Triangular epiphysis of the distal phalanx of theAbnormality of the skele HP:0100110 Triangular epiphysis of the distal phalanx of the 2nd toeAbnormality of the skele HP:0009345 Triangular epiphysis of the distal phalanx of theAbnormality of the skele HP:0100145 Triangular epiphysis of the distal phalanx of the 3rd toeAbnormality of the skele HP:0009260 Triangular epiphysis of the distal phalanx of theAbnormality of the skele HP:0100179 Triangular epiphysis of the distal phalanx of the 4th toeAbnormality of the skele HP:0009149 Triangular epiphysis of the distal phalanx of theAbnormality of the skele HP:0100212 Triangular epiphysis of the distal phalanx of the 5th toeAbnormality of the skele HP:0010148 Triangular epiphysis of the distal phalanx of the halluxAbnormality of the skele HP:0009685 Triangular epiphysis of the distal phalanx of thAbnormality of the skele HP:0009523 Triangular epiphysis of the middle phalanx of the 2nd fingerAbnormality of the skele HP:0100121 Triangular epiphysis of the middle phalanx of the 2nd toeAbnormality of the skele HP:0009331 Triangular epiphysis of the middle phalanx of thAbnormality of the skele HP:0100156 Triangular epiphysis of the middle phalanx of the 3rd toeAbnormality of the skele HP:0009224 Triangular epiphysis of the middle phalanx of thAbnormality of the skele HP:0100190 Triangular epiphysis of the middle phalanx of the 4th toeAbnormality of the skele HP:0009213 Triangular epiphysis of the middle phalanx of thAbnormality of the skele HP:0100223 Triangular epiphysis of the middle phalanx of the 5th toeAbnormality of the skele HP:0009534 Triangular epiphysis of the proximal phalanx of the 2nd fingerAbnormality of the skele HP:0100132 Triangular epiphysis of the proximal phalanx of the 2nd toeAbnormality of the skele HP:0009356 Triangular epiphysis of the proximal phalanx of Abnormality of the skele HP:0100167 Triangular epiphysis of the proximal phalanx of the 3rd toeAbnormality of the skele HP:0009271 Triangular epiphysis of the proximal phalanx of Abnormality of the skele HP:0100201 Triangular epiphysis of the proximal phalanx of the 4th toeAbnormality of the skele HP:0009154 Triangular epiphysis of the proximal phalanx of Abnormality of the skele HP:0100234 Triangular epiphysis of the proximal phalanx of the 5th toeAbnormality of the skele HP:0010137 Triangular epiphysis of the proximal phalanx of the halluxAbnormality of the skele HP:0009674 Triangular epiphysis of the proximal phalanx ofAbnormality of the skele HP:0003884 Triangular humerusAbnormality of the skele HP:0010033 Triangular shaped 1st metacarpalAbnormality of the skele HP:0010074 Triangular shaped 1st metatarsalAbnormality of the skele HP:0009875 Triangular shaped distal phalanges of the handAbnormality of the skele HP:0010192 Triangular shaped distal phalanges of the toesAbnormality of the skele HP:0009564 Triangular shaped distal phalanx of the 2nd finAbnormality of the skele HP:0010420 Triangular shaped distal phalanx of the 2nd toeAbnormality of the skele HP:0009427 Triangular shaped distal phalanx of the 3rd fingAbnormality of the skele HP:0009306 Triangular shaped distal phalanx of the 4th fingAbnormality of the skele HP:0009245 Triangular shaped distal phalanx of the 5th fingAbnormality of the skele HP:0100487 Triangular shaped distal phalanx of the 5th toeAbnormality of the skele HP:0010083 Triangular shaped distal phalanx of the halluxAbnormality of the skele HP:0009648 Triangular shaped distal phalanx of the thumbAbnormality of the skele HP:0009850 Triangular shaped middle phalanges of the handAbnormality of the skele HP:0010201 Triangular shaped middle phalanges of the toesAbnormality of the skele HP:0009575 Triangular shaped middle phalanx of the 2nd fiAbnormality of the skele HP:0010411 Triangular shaped middle phalanx of the 2nd toeAbnormality of the skele HP:0009436 Triangular shaped middle phalanx of the 3rd fin

Abnormality of the skele HP:0009309 Triangular shaped middle phalanx of the 4th finAbnormality of the skele HP:0009182 Triangular shaped middle phalanx of the 5th finAbnormality of the skele HP:0009546 Triangular shaped phalanges of the 2nd fingerAbnormality of the skele HP:0010354 Triangular shaped phalanges of the 2nd toeAbnormality of the skele HP:0009446 Triangular shaped phalanges of the 3rd fingerAbnormality of the skele HP:0010366 Triangular shaped phalanges of the 3rd toeAbnormality of the skele HP:0009407 Triangular shaped phalanges of the 4th fingerAbnormality of the skele HP:0010378 Triangular shaped phalanges of the 4th toeAbnormality of the skele HP:0009378 Triangular shaped phalanges of the 5th fingerAbnormality of the skele HP:0010390 Triangular shaped phalanges of the 5th toeAbnormality of the skele HP:0010065 Triangular shaped phalanges of the halluxAbnormality of the skele HP:0009774 Triangular shaped phalanges of the handAbnormality of the skele HP:0010180 Triangular shaped phalanges of the toesAbnormality of the skele HP:0009858 Triangular shaped proximal phalanges of the handAbnormality of the skele HP:0010210 Triangular shaped proximal phalanges of the toesAbnormality of the skele HP:0009587 Triangular shaped proximal phalanx of the 2nd Abnormality of the skele HP:0010402 Triangular shaped proximal phalanx of the 2nd toeAbnormality of the skele HP:0009456 Triangular shaped proximal phalanx of the 3rd fAbnormality of the skele HP:0009315 Triangular shaped proximal phalanx of the 4th fAbnormality of the skele HP:0009233 Triangular shaped proximal phalanx of the 5th fAbnormality of the skele HP:0010092 Triangular shaped proximal phalanx of the halluxAbnormality of the skele HP:0009636 Triangular shaped proximal phalanx of the thuAbnormality of the skele HP:0009657 Triangular shaped thumb phalanxAbnormality of the skele HP:0009785 Triceps aplasiaAbnormality of the skele HP:0100855 Triceps hypoplasiaAbnormality of the skele HP:0004060 Trident handAbnormality of the skele HP:0001199 Triphalangeal thumbAbnormality of the skele HP:0006166 Tubular metacarpal bonesAbnormality of the skele HP:0006668 Twelfth rib hypoplasiaAbnormality of the skele HP:0006176 Two carpal ossification centers present at birthAbnormality of the skele HP:0003784 Type 1 collagen overmodificationAbnormality of the skele HP:0009370 Type A brachydactylyAbnormality of the skele HP:0009371 Type A1 brachydactylyAbnormality of the skele HP:0009372 Type A2 brachydactylyAbnormality of the skele HP:0005831 Type B brachydactylyAbnormality of the skele HP:0009373 Type C brachydactylyAbnormality of the skele HP:0005627 Type D brachydactylyAbnormality of the skele HP:0005863 Type E brachydactylyAbnormality of the skele HP:0003031 Ulnar bowingAbnormality of the skele HP:0001178 Ulnar clawAbnormality of the skele HP:0006055 Ulnar deviated club handsAbnormality of the skele HP:0009465 Ulnar deviation of fingerAbnormality of the skele HP:0009464 Ulnar deviation of the 2nd fingerAbnormality of the skele HP:0009463 Ulnar deviation of the 3rd fingerAbnormality of the skele HP:0009278 Ulnar deviation of the 4th fingerAbnormality of the skele HP:0009180 Ulnar deviation of the 5th fingerAbnormality of the skele HP:0009487 Ulnar deviation of the handAbnormality of the skele HP:0001193 Ulnar deviation of the hand or of fingers of the handAbnormality of the skele HP:0003049 Ulnar deviation of the wristAbnormality of the skele HP:0006156 Ulnar deviation of thumb

Abnormality of the skele HP:0005856 Ulnar radial head dislocationAbnormality of the skele HP:0003885 Undermodeled humerusAbnormality of the skele HP:0003970 Undermodelled forearm bonesAbnormality of the skele HP:0004292 Undermodelled hand bonesAbnormality of the skele HP:0010560 Undulate claviclesAbnormality of the skele HP:0010561 Undulate ribsAbnormality of the skele HP:0012064 Unicameral bone cystAbnormality of the skele HP:0006008 Unilateral brachydactylyAbnormality of the skele HP:0005254 Unilateral chest hypoplasiaAbnormality of the skele HP:0006230 Unilateral oligodactylyAbnormality of the skele HP:0011908 Unilateral radial aplasiaAbnormality of the skele HP:0005036 Unilateral ulnar hypoplasiaAbnormality of the skele HP:0012454 Unilateral wrist flexion contractureAbnormality of the skele HP:0004606 Unossified vertebral bodiesAbnormality of the skele HP:0007560 Unusual dermatoglyphicsAbnormality of the skele HP:0009129 Upper limb amyotrophyAbnormality of the skele HP:0100560 Upper limb asymmetryAbnormality of the skele HP:0003856 Upper limb metaphyseal wideningAbnormality of the skele HP:0009016 Upper limb muscle hypoplasiaAbnormality of the skele HP:0012513 Upper limb painAbnormality of the skele HP:0009814 Upper limb peromeliaAbnormality of the skele HP:0009813 Upper limb phocomeliaAbnormality of the skele HP:0009824 Upper limb undergrowthAbnormality of the skele HP:0008081 Valgus foot deformityAbnormality of the skele HP:0006228 Valgus hand deformityAbnormality of the skele HP:0006362 Varus deformity of humeral neckAbnormality of the skele HP:0004934 Vascular calcificationAbnormality of the skele HP:0008438 Vertebral arch anomalyAbnormality of the skele HP:0100861 Vertebral body sclerosisAbnormality of the skele HP:0008428 Vertebral cleftingAbnormality of the skele HP:0002953 Vertebral compression fracturesAbnormality of the skele HP:0002948 Vertebral fusionAbnormality of the skele HP:0008442 Vertebral hyperostosisAbnormality of the skele HP:0008417 Vertebral hypoplasiaAbnormality of the skele HP:0003422 Vertebral segmentation defectAbnormality of the skele HP:0008422 Vertebral wedgingAbnormality of the skele HP:0008452 Wafer-thin platyspondylyAbnormality of the skele HP:0009077 Weakness of long finger extensor musclesAbnormality of the skele HP:0009005 Weakness of the intrinsic hand musclesAbnormality of the skele HP:0008784 Wide capital femoral epiphysesAbnormality of the skele HP:0006387 Wide distal femoral metaphysisAbnormality of the skele HP:0003846 Wide epiphyseal plates of the upper limbsAbnormality of the skele HP:0003904 Wide epiphyses of the upper limbsAbnormality of the skele HP:0004261 Wide hamate boneAbnormality of the skele HP:0003935 Wide humeral diaphysisAbnormality of the skele HP:0003886 Wide humerusAbnormality of the skele HP:0008783 Wide proximal femoral metaphysisAbnormality of the skele HP:0003183 Wide pubic symphysisAbnormality of the skele HP:0003973 Wide radioulnar jointsAbnormality of the skele HP:0006095 Wide tufts of distal phalanges

Abnormality of the skele HP:0004047 Wide ulnar metaphysisAbnormality of the skele HP:0000910 Wide-cupped costochondral junctionsAbnormality of the skele HP:0008094 Widely spaced toesAbnormality of the skele HP:0006200 Widened distal phalangesAbnormality of the skele HP:0012679 Widened interpedicular distanceAbnormality of the skele HP:0006012 Widened metacarpal shaftAbnormality of the skele HP:0008790 Widened proximal femoral metaphysesAbnormality of the skele HP:0005028 Widened proximal tibial metaphysesAbnormality of the skele HP:0008798 Widened, small sacrosciatic notchesAbnormality of the skele HP:0004571 Widening of cervical spinal canalAbnormality of the skele HP:0010457 Widening of the sacrosciatic notchAbnormality of the skele HP:0100531 Wind-swept deformity of the kneesAbnormality of the skele HP:0001239 Wrist flexion contractureAbnormality of the skele HP:0001225 Wrist swellingAbnormality of the skele HP:0006042 Y-shaped metacarpalsAbnormality of the skele HP:0010567 Y-shaped metatarsalsAbnormality of the skele HP:0005068 absent styloid processesAbnormality of the skele HP:0005059 arthralgia/arthritisAbnormality of the skele HP:0004632 cervical segmentation defectsAbnormality of the skele HP:0004612 cervical spine segmentation defectsAbnormality of the skele HP:0004575 fusion of midcervical facet jointsAbnormality of the skele HP:0004594 hump-shaped mound of bone in central and posterior portions of vertebral endplateAbnormality of the skele HP:0004563 increased spinal bone densityAbnormality of the skele HP:0005043 irregular proximal humeral metaphysesAbnormality of the skele HP:0005060 limited elbow flexion/extensionAbnormality of the skele HP:0005085 limited knee flexion/extensionAbnormality of the skele HP:0005026 mesomelic/rhizomelic limb shorteningAbnormality of the skele HP:0005010 osteomyelitis leading to amputation due to slow healing fracturesAbnormality of the skele HP:0005017 polyarticular chondrocalcinosisAbnormality of the skele HP:0004981 prominent ulnar styloid processAbnormality of the skele HP:0005069 rhizo-meso-acromelic limb shortening

Abnormality of the genitourinary systemAbnormality of the genit HP:0003535 3-Methylglutaconic aciduriaAbnormality of the genit HP:0003344 3-Methylglutaric aciduriaAbnormality of the genit HP:0008160 3-hydroxydicarboxylic aciduriaAbnormality of the genit HP:0012875 Abnormal ejaculationAbnormality of the genit HP:0000811 Abnormal external genitaliaAbnormality of the genit HP:0012293 Abnormal genital pigmentationAbnormality of the genit HP:0012243 Abnormal genital system morphologyAbnormality of the genit HP:0012862 Abnormal germ cell morphologyAbnormality of the genit HP:0012212 Abnormal glomerular filtration rateAbnormality of the genit HP:0000812 Abnormal internal genitaliaAbnormality of the genit HP:0100542 Abnormal localization of kidneyAbnormality of the genit HP:0012874 Abnormal male genital system physiologyAbnormality of the genit HP:0012863 Abnormal male germ cell morphologyAbnormality of the genit HP:0005932 Abnormal renal corticomedullary differentiationAbnormality of the genit HP:0012210 Abnormal renal morphologyAbnormality of the genit HP:0012211 Abnormal renal physiologyAbnormality of the genit HP:0012856 Abnormal scrotal rugationAbnormality of the genit HP:0012244 Abnormal sex determination

Abnormality of the genit HP:0012864 Abnormal sperm morphologyAbnormality of the genit HP:0012206 Abnormal sperm motilityAbnormality of the genit HP:0008669 Abnormal spermatogenesisAbnormality of the genit HP:0012073 Abnormal urinary acylglycine profileAbnormality of the genit HP:0012086 Abnormal urinary colorAbnormality of the genit HP:0012591 Abnormal urinary electrolyte concentrationAbnormality of the genit HP:0012088 Abnormal urinary odorAbnormality of the genit HP:0012612 Abnormal urinary sulfate concentrationAbnormality of the genit HP:0012401 Abnormal urine alpha-ketoglutarate concentratiAbnormality of the genit HP:0012600 Abnormal urine chloride concentrationAbnormality of the genit HP:0012404 Abnormal urine citrate concentrationAbnormality of the genit HP:0012614 Abnormal urine cytologyAbnormality of the genit HP:0012607 Abnormal urine magnesium concentrationAbnormality of the genit HP:0012590 Abnormal urine outputAbnormality of the genit HP:0012599 Abnormal urine phosphate concentrationAbnormality of the genit HP:0012598 Abnormal urine potassium concentrationAbnormality of the genit HP:0012603 Abnormal urine sodium concentrationAbnormality of the genit HP:0012872 Abnormal vas deferens morphologyAbnormality of the genit HP:0100623 Abnormality of corpus cavernosumAbnormality of the genit HP:0000055 Abnormality of female external genitaliaAbnormality of the genit HP:0000008 Abnormality of female internal genitaliaAbnormality of the genit HP:0000080 Abnormality of genital physiologyAbnormality of the genit HP:0000032 Abnormality of male external genitaliaAbnormality of the genit HP:0000022 Abnormality of male internal genitaliaAbnormality of the genit HP:0011130 Abnormality of renal calyx morphologyAbnormality of the genit HP:0011036 Abnormality of renal excretionAbnormality of the genit HP:0011038 Abnormality of renal resorptionAbnormality of the genit HP:0010789 Abnormality of the Leydig cellsAbnormality of the genit HP:0000014 Abnormality of the bladderAbnormality of the genit HP:0000056 Abnormality of the clitorisAbnormality of the genit HP:0009714 Abnormality of the epididymisAbnormality of the genit HP:0011027 Abnormality of the fallopian tubeAbnormality of the genit HP:0010460 Abnormality of the female genitaliaAbnormality of the genit HP:0000078 Abnormality of the genital systemAbnormality of the genit HP:0000119 Abnormality of the genitourinary systemAbnormality of the genit HP:0000095 Abnormality of the glomerulusAbnormality of the genit HP:0000077 Abnormality of the kidneyAbnormality of the genit HP:0000058 Abnormality of the labiaAbnormality of the genit HP:0012881 Abnormality of the labia majoraAbnormality of the genit HP:0012880 Abnormality of the labia minoraAbnormality of the genit HP:0010936 Abnormality of the lower urinary tractAbnormality of the genit HP:0010461 Abnormality of the male genitaliaAbnormality of the genit HP:0000140 Abnormality of the menstrual cycleAbnormality of the genit HP:0012575 Abnormality of the nephronAbnormality of the genit HP:0000137 Abnormality of the ovaryAbnormality of the genit HP:0000036 Abnormality of the penisAbnormality of the genit HP:0100587 Abnormality of the preputiumAbnormality of the genit HP:0008775 Abnormality of the prostateAbnormality of the genit HP:0008776 Abnormality of the renal arteryAbnormality of the genit HP:0004742 Abnormality of the renal collecting system

Abnormality of the genit HP:0011035 Abnormality of the renal cortexAbnormality of the genit HP:0100957 Abnormality of the renal medullaAbnormality of the genit HP:0010944 Abnormality of the renal pelvisAbnormality of the genit HP:0000091 Abnormality of the renal tubuleAbnormality of the genit HP:0000045 Abnormality of the scrotumAbnormality of the genit HP:0000035 Abnormality of the testisAbnormality of the genit HP:0010935 Abnormality of the upper urinary tractAbnormality of the genit HP:0010478 Abnormality of the urachusAbnormality of the genit HP:0000069 Abnormality of the ureterAbnormality of the genit HP:0000795 Abnormality of the urethraAbnormality of the genit HP:0000079 Abnormality of the urinary systemAbnormality of the genit HP:0011277 Abnormality of the urinary system physiologyAbnormality of the genit HP:0012888 Abnormality of the uterine cervixAbnormality of the genit HP:0000130 Abnormality of the uterusAbnormality of the genit HP:0000142 Abnormality of the vaginaAbnormality of the genit HP:0012610 Abnormality of urinary uric acid concentrationAbnormality of the genit HP:0011279 Abnormality of urine bicarbonate concentrationAbnormality of the genit HP:0011280 Abnormality of urine calcium concentrationAbnormality of the genit HP:0011281 Abnormality of urine catecholamine concentratiAbnormality of the genit HP:0011016 Abnormality of urine glucose concentrationAbnormality of the genit HP:0003110 Abnormality of urine homeostasisAbnormality of the genit HP:0008729 Absence of labia majoraAbnormality of the genit HP:0005564 Absence of renal corticomedullary differentiatioAbnormality of the genit HP:0000042 Absent external genitaliaAbnormality of the genit HP:0008633 Absent gonadal tissueAbnormality of the genit HP:0008702 Absent internal genitaliaAbnormality of the genit HP:0008707 Absent scrotumAbnormality of the genit HP:0003606 Absent urinary urothioneAbnormality of the genit HP:0012873 Absent vas deferensAbnormality of the genit HP:0012869 Acephalic spermatozoaAbnormality of the genit HP:0012072 AciduriaAbnormality of the genit HP:0001919 Acute kidney injuryAbnormality of the genit HP:0008682 Acute tubular necrosisAbnormality of the genit HP:0004729 Acute tubulointerstitial nephritisAbnormality of the genit HP:0012592 AlbuminuriaAbnormality of the genit HP:0000062 Ambiguous genitaliaAbnormality of the genit HP:0000061 Ambiguous genitalia, femaleAbnormality of the genit HP:0000033 Ambiguous genitalia, maleAbnormality of the genit HP:0000141 AmenorrheaAbnormality of the genit HP:0003355 AminoaciduriaAbnormality of the genit HP:0012879 AnejaculationAbnormality of the genit HP:0005218 Anoperineal fistulaAbnormality of the genit HP:0003252 Anteriorly displaced genitaliaAbnormality of the genit HP:0008648 Anteriorly displaced urethral meatusAbnormality of the genit HP:0100519 AnuriaAbnormality of the genit HP:0010477 Aplasia of the bladderAbnormality of the genit HP:0012674 Aplasia of the lower vaginaAbnormality of the genit HP:0010463 Aplasia of the ovaryAbnormality of the genit HP:0010469 Aplasia of the testesAbnormality of the genit HP:0012673 Aplasia of the upper vagina

Abnormality of the genit HP:0000151 Aplasia of the uterusAbnormality of the genit HP:0003250 Aplasia of the vaginaAbnormality of the genit HP:0010476 Aplasia/Hypoplasia of the bladderAbnormality of the genit HP:0008655 Aplasia/Hypoplasia of the fallopian tubeAbnormality of the genit HP:0010462 Aplasia/Hypoplasia of the ovaryAbnormality of the genit HP:0010468 Aplasia/Hypoplasia of the testesAbnormality of the genit HP:0011026 Aplasia/Hypoplasia of the vaginaAbnormality of the genit HP:0008684 Aplasia/hypoplasia of the uterusAbnormality of the genit HP:0003268 ArgininuriaAbnormality of the genit HP:0100586 Aseptic leukocyturiaAbnormality of the genit HP:0004717 Axial malrotation of the kidneyAbnormality of the genit HP:0000027 AzoospermiaAbnormality of the genit HP:0012461 BacteriuriaAbnormality of the genit HP:0006778 Benign genitourinary tract neoplasmAbnormality of the genit HP:0008711 Benign prostatic hyperplasiaAbnormality of the genit HP:0004910 Bicarbonate-wasting renal tubular acidosisAbnormality of the genit HP:0003646 BicarbonaturiaAbnormality of the genit HP:0000813 Bicornuate uterusAbnormality of the genit HP:0000048 Bifid scrotumAbnormality of the genit HP:0000136 Bifid uterusAbnormality of the genit HP:0008689 Bilateral cryptorchidismAbnormality of the genit HP:0011129 Bilateral fetal pyelectasisAbnormality of the genit HP:0010958 Bilateral renal agenesisAbnormality of the genit HP:0012586 Bilateral renal atrophyAbnormality of the genit HP:0012582 Bilateral renal dysplasiaAbnormality of the genit HP:0012584 Bilateral renal hypoplasiaAbnormality of the genit HP:0002862 Bladder carcinomaAbnormality of the genit HP:0000015 Bladder diverticulumAbnormality of the genit HP:0002836 Bladder exstrophyAbnormality of the genit HP:0004321 Bladder fistulaAbnormality of the genit HP:0009725 Bladder neoplasmAbnormality of the genit HP:0010474 Bladder stonesAbnormality of the genit HP:0012576 C3 nephropathyAbnormality of the genit HP:0004724 Calcium nephrolithiasisAbnormality of the genit HP:0008672 Calcium oxalate nephrolithiasisAbnormality of the genit HP:0012580 Calcium phosphate nephrolithiasisAbnormality of the genit HP:0003167 CarnosinuriaAbnormality of the genit HP:0100312 Cerebral germinomaAbnormality of the genit HP:0012889 Cervical endometriosisAbnormality of the genit HP:0012070 Chondroitin sulfate excretion in urineAbnormality of the genit HP:0000041 ChordeeAbnormality of the genit HP:0100768 ChoriocarcinomaAbnormality of the genit HP:0012622 Chronic kidney diseaseAbnormality of the genit HP:0004743 Chronic tubulointerstitial nephritisAbnormality of the genit HP:0006770 Clear cell renal cell carcinomaAbnormality of the genit HP:0008665 Clitoral hypertrophyAbnormality of the genit HP:0000060 Clitoral hypoplasiaAbnormality of the genit HP:0000057 ClitoromegalyAbnormality of the genit HP:0012620 Cloacal abnormalityAbnormality of the genit HP:0010475 Cloacal exstrophy

Abnormality of the genit HP:0008336 Complex organic aciduriaAbnormality of the genit HP:0012421 Congenital absence of foreskinAbnormality of the genit HP:0008640 Congenital macroorchidismAbnormality of the genit HP:0008676 Congenital megaureterAbnormality of the genit HP:0100881 Congenital mesoblastic nephromaAbnormality of the genit HP:0008677 Congenital nephrotic syndromeAbnormality of the genit HP:0010957 Congenital posterior urethral valveAbnormality of the genit HP:0008743 Coronal hypospadiasAbnormality of the genit HP:0100624 Corpus cavernosum sclerosisAbnormality of the genit HP:0012409 Cortical nephrocalcinosisAbnormality of the genit HP:0008653 Crescentic glomerulonephritisAbnormality of the genit HP:0004736 Crossed fused renal ectopiaAbnormality of the genit HP:0000028 CryptorchidismAbnormality of the genit HP:0012615 CylindruriaAbnormality of the genit HP:0003153 CystathioninuriaAbnormality of the genit HP:0000800 Cystic renal dysplasiaAbnormality of the genit HP:0003131 CystinuriaAbnormality of the genit HP:0100645 CystoceleAbnormality of the genit HP:0012321 D-2-hydroxyglutaric aciduriaAbnormality of the genit HP:0000144 Decreased fertilityAbnormality of the genit HP:0000868 Decreased fertility in femalesAbnormality of the genit HP:0012041 Decreased fertility in malesAbnormality of the genit HP:0012213 Decreased glomerular filtration rateAbnormality of the genit HP:0005563 Decreased numbers of nephronsAbnormality of the genit HP:0005572 Decreased renal tubular phosphate excretionAbnormality of the genit HP:0012858 Decreased scrotal rugationAbnormality of the genit HP:0008734 Decreased testicular sizeAbnormality of the genit HP:0012364 Decreased urinary potassiumAbnormality of the genit HP:0003359 Decreased urinary sulfateAbnormality of the genit HP:0011935 Decreased urinary urateAbnormality of the genit HP:0012403 Decreased urine alpha-ketoglutarate concentraAbnormality of the genit HP:0011037 Decreased urine outputAbnormality of the genit HP:0012569 Delayed menarcheAbnormality of the genit HP:0004746 Dense deposit diseaseAbnormality of the genit HP:0008301 Dermatan sulfate excretion in urineAbnormality of the genit HP:0008339 DiaminoaciduriaAbnormality of the genit HP:0003168 DibasicaminoaciduriaAbnormality of the genit HP:0003215 Dicarboxylic aciduriaAbnormality of the genit HP:0001967 Diffuse mesangial sclerosisAbnormality of the genit HP:0010955 Dilatation of the bladderAbnormality of the genit HP:0010946 Dilatation of the renal pelvisAbnormality of the genit HP:0100599 DiphalliaAbnormality of the genit HP:0100627 Displacement of the external urethral meatusAbnormality of the genit HP:0008341 Distal renal tubular acidosisAbnormality of the genit HP:0008706 Distal urethral duplicationAbnormality of the genit HP:0000081 Duplicated collecting systemAbnormality of the genit HP:0005580 Duplication of renal pelvisAbnormality of the genit HP:0100621 DysgerminomaAbnormality of the genit HP:0100607 DysmenorrheaAbnormality of the genit HP:0008733 Dysplastic testes

Abnormality of the genit HP:0100518 DysuriaAbnormality of the genit HP:0000086 Ectopic kidneyAbnormality of the genit HP:0010680 Elevated alkaline phosphatase of renal originAbnormality of the genit HP:0011976 Elevated urinary catecholaminesAbnormality of the genit HP:0011979 Elevated urinary dopamineAbnormality of the genit HP:0003639 Elevated urinary epinephrineAbnormality of the genit HP:0003345 Elevated urinary norepinephrineAbnormality of the genit HP:0003491 Elevated urine pyrophosphateAbnormality of the genit HP:0011794 Embryonal renal neoplasmAbnormality of the genit HP:0012114 Endometrial carcinomaAbnormality of the genit HP:0000105 Enlarged kidneysAbnormality of the genit HP:0008683 Enlarged labia minoraAbnormality of the genit HP:0100879 Enlarged ovariesAbnormality of the genit HP:0000040 Enlarged penisAbnormality of the genit HP:0008675 Enlarged polycystic ovariesAbnormality of the genit HP:0100878 Enlarged uterusAbnormality of the genit HP:0000805 EnuresisAbnormality of the genit HP:0010678 Enuresis diurnaAbnormality of the genit HP:0010677 Enuresis nocturnaAbnormality of the genit HP:0000031 EpididymitisAbnormality of the genit HP:0000039 EpispadiasAbnormality of the genit HP:0100639 Erectile abnormalitiesAbnormality of the genit HP:0012617 Erythrocyte cylindruriaAbnormality of the genit HP:0003219 Ethylmalonic aciduriaAbnormality of the genit HP:0008305 Exercise-induced myoglobinuriaAbnormality of the genit HP:0003241 External genital hypoplasiaAbnormality of the genit HP:0012883 Fallopian tube cystAbnormality of the genit HP:0012885 Fallopian tube duplicationAbnormality of the genit HP:0012884 Fallopian tube torsionAbnormality of the genit HP:0008730 Female external genitalia in individual with 46Abnormality of the genit HP:0000134 Female hypogonadismAbnormality of the genit HP:0008222 Female infertilityAbnormality of the genit HP:0010458 Female pseudohermaphroditismAbnormality of the genit HP:0010956 Fetal megacystisAbnormality of the genit HP:0010945 Fetal pyelectasisAbnormality of the genit HP:0000097 Focal segmental glomerulosclerosisAbnormality of the genit HP:0000025 Functional abnormality of male internal genitaliaAbnormality of the genit HP:0000009 Functional abnormality of the bladderAbnormality of the genit HP:0000063 Fused labia minoraAbnormality of the genit HP:0002909 Generalized aminoaciduriaAbnormality of the genit HP:0004916 Generalized distal tubular acidosisAbnormality of the genit HP:0010787 Genital neoplasmAbnormality of the genit HP:0001827 Genital tract atresiaAbnormality of the genit HP:0003249 Genital ulcersAbnormality of the genit HP:0100728 Germ cell neoplasiaAbnormality of the genit HP:0100620 GerminomaAbnormality of the genit HP:0000807 Glandular hypospadiasAbnormality of the genit HP:0004737 Global glomerulosclerosisAbnormality of the genit HP:0012573 Global proximal tubulopathyAbnormality of the genit HP:0012205 Globozoospermia

Abnormality of the genit HP:0000099 GlomerulonephritisAbnormality of the genit HP:0100820 GlomerulopathyAbnormality of the genit HP:0000096 GlomerulosclerosisAbnormality of the genit HP:0003150 Glutaric aciduriaAbnormality of the genit HP:0003076 GlycosuriaAbnormality of the genit HP:0008703 Gonadal calcificationAbnormality of the genit HP:0000133 Gonadal dysgenesisAbnormality of the genit HP:0008723 Gonadal dysgenesis with female appearance, Abnormality of the genit HP:0008668 Gonadal dysgenesis, maleAbnormality of the genit HP:0008639 Gonadal hypoplasiaAbnormality of the genit HP:0010785 Gonadal neoplasmAbnormality of the genit HP:0003248 Gonadal tissue inappropriate for external genitalia or chromosomal sexAbnormality of the genit HP:0000150 GonadoblastomaAbnormality of the genit HP:0012597 Heavy proteinuriaAbnormality of the genit HP:0000790 HematuriaAbnormality of the genit HP:0003641 HemoglobinuriaAbnormality of the genit HP:0005575 Hemolytic-uremic syndromeAbnormality of the genit HP:0012886 Hemorrhagic ovarian cystAbnormality of the genit HP:0012543 HemosiderinuriaAbnormality of the genit HP:0002159 Heparan sulfate excretion in urineAbnormality of the genit HP:0002927 HistidinuriaAbnormality of the genit HP:0002156 HomocystinuriaAbnormality of the genit HP:0000085 Horseshoe kidneyAbnormality of the genit HP:0000034 Hydrocele testisAbnormality of the genit HP:0000126 HydronephrosisAbnormality of the genit HP:0000072 HydroureterAbnormality of the genit HP:0003080 HydroxyprolinuriaAbnormality of the genit HP:0010790 Hyoplasia of the Leydig cellsAbnormality of the genit HP:0002150 HypercalciuriaAbnormality of the genit HP:0002914 HyperchloriduraAbnormality of the genit HP:0012406 HypercitraturiaAbnormality of the genit HP:0004719 Hyperechogenic kidneysAbnormality of the genit HP:0003108 HyperglycinuriaAbnormality of the genit HP:0000815 Hypergonadotropic hypogonadismAbnormality of the genit HP:0003297 HyperlysinuriaAbnormality of the genit HP:0012608 HypermagnesiuriaAbnormality of the genit HP:0100609 HypermenorrheaAbnormality of the genit HP:0012605 HypernatriuriaAbnormality of the genit HP:0003159 HyperoxaluriaAbnormality of the genit HP:0003109 HyperphosphaturiaAbnormality of the genit HP:0010791 Hyperplasia of the Leydig cellsAbnormality of the genit HP:0012882 Hyperplastic labia majoraAbnormality of the genit HP:0003296 HyperthreoninuriaAbnormality of the genit HP:0008694 Hypertrophic labia minoraAbnormality of the genit HP:0008635 Hypertrophy of the urinary bladderAbnormality of the genit HP:0003149 HyperuricosuriaAbnormality of the genit HP:0003127 HypocalciuriaAbnormality of the genit HP:0012601 HypochloriduriaAbnormality of the genit HP:0012405 HypocitraturiaAbnormality of the genit HP:0000135 Hypogonadism

Abnormality of the genit HP:0000044 Hypogonadotrophic hypogonadismAbnormality of the genit HP:0012609 HypomagnesiuriaAbnormality of the genit HP:0012604 HyponatriuriaAbnormality of the genit HP:0012365 HypophosphaturiaAbnormality of the genit HP:0008736 Hypoplasia of penisAbnormality of the genit HP:0005343 Hypoplasia of the bladderAbnormality of the genit HP:0008697 Hypoplasia of the fallopian tubeAbnormality of the genit HP:0008724 Hypoplasia of the ovaryAbnormality of the genit HP:0008687 Hypoplasia of the prostateAbnormality of the genit HP:0000013 Hypoplasia of the uterusAbnormality of the genit HP:0008726 Hypoplasia of the vaginaAbnormality of the genit HP:0012815 Hypoplastic female external genitaliaAbnormality of the genit HP:0000059 Hypoplastic labia majoraAbnormality of the genit HP:0000064 Hypoplastic labia minoraAbnormality of the genit HP:0000050 Hypoplastic male external genitaliaAbnormality of the genit HP:0000047 HypospadiasAbnormality of the genit HP:0003158 HyposthenuriaAbnormality of the genit HP:0000794 IgA deposition in the glomerulusAbnormality of the genit HP:0008666 Impaired histidine renal tubular absorptionAbnormality of the genit HP:0005579 Impaired reabsorption of chlorideAbnormality of the genit HP:0004727 Impaired renal concentrating abilityAbnormality of the genit HP:0004732 Impaired renal uric acid clearanceAbnormality of the genit HP:0000802 ImpotenceAbnormality of the genit HP:0008656 Incomplete male pseudohermaphroditismAbnormality of the genit HP:0012214 Increased glomerular filtration rateAbnormality of the genit HP:0005571 Increased renal tubular phosphate reabsorptionAbnormality of the genit HP:0012857 Increased scrotal rugationAbnormality of the genit HP:0003081 Increased urinary potassiumAbnormality of the genit HP:0012613 Increased urinary sulfateAbnormality of the genit HP:0011942 Increased urinary sulfiteAbnormality of the genit HP:0003166 Increased urinary taurineAbnormality of the genit HP:0011943 Increased urinary thiosulfateAbnormality of the genit HP:0012611 Increased urinary urateAbnormality of the genit HP:0012402 Increased urine alpha-ketoglutarate concentratAbnormality of the genit HP:0000789 InfertilityAbnormality of the genit HP:0011795 Intralobar nephroblastomatosisAbnormality of the genit HP:0012783 Intralobar nephrogenic restAbnormality of the genit HP:0012069 Keratan sulfate excretion in urineAbnormality of the genit HP:0002919 KetonuriaAbnormality of the genit HP:0000065 Labial hypertrophyAbnormality of the genit HP:0000066 Labial hypoplasiaAbnormality of the genit HP:0008739 Labial pseudohypertrophyAbnormality of the genit HP:0003648 LacticaciduriaAbnormality of the genit HP:0012616 Leukocyte cylindruriaAbnormality of the genit HP:0100618 Leydig cell neoplasiaAbnormality of the genit HP:0008636 Lobular glomerulopathyAbnormality of the genit HP:0008293 Long-chain dicarboxylic aciduriaAbnormality of the genit HP:0008740 Longitudinal vaginal septumAbnormality of the genit HP:0010685 Low alkaline phosphatase of renal originAbnormality of the genit HP:0003126 Low-molecular-weight proteinuria

Abnormality of the genit HP:0000053 MacroorchidismAbnormality of the genit HP:0002050 Macroorchidism, postpubertalAbnormality of the genit HP:0012587 Macroscopic hematuriaAbnormality of the genit HP:0000026 Male hypogonadismAbnormality of the genit HP:0003251 Male infertilityAbnormality of the genit HP:0000037 Male pseudohermaphroditismAbnormality of the genit HP:0006758 Malignant genitourinary tract tumorAbnormality of the genit HP:0008309 Medium chain dicarboxylic aciduriaAbnormality of the genit HP:0012408 Medullary nephrocalcinosisAbnormality of the genit HP:0100581 MegacalicosisAbnormality of the genit HP:0000021 MegacystisAbnormality of the genit HP:0000793 Membranoproliferative glomerulonephritisAbnormality of the genit HP:0012578 Membranous nephropathyAbnormality of the genit HP:0000132 MenorrhagiaAbnormality of the genit HP:0000858 Menstrual irregularitiesAbnormality of the genit HP:0001966 Mesangial abnormalityAbnormality of the genit HP:0012574 Mesangial proliferationAbnormality of the genit HP:0012120 Methylmalonic aciduriaAbnormality of the genit HP:0100608 MetrorrhagiaAbnormality of the genit HP:0012594 MicroalbuminuriaAbnormality of the genit HP:0000054 MicropenisAbnormality of the genit HP:0002907 Microscopic hematuriaAbnormality of the genit HP:0008327 Microscopic nephrocalcinosisAbnormality of the genit HP:0012854 Midshaft hypospadiasAbnormality of the genit HP:0012595 Mild proteinuriaAbnormality of the genit HP:0012579 Minimal change glomerulonephritisAbnormality of the genit HP:0012596 Moderate proteinuriaAbnormality of the genit HP:0008155 MucopolysacchariduriaAbnormality of the genit HP:0000003 Multicystic kidney dysplasiaAbnormality of the genit HP:0012589 Multidrug-resistant nephrotic syndromeAbnormality of the genit HP:0012619 Multiple bladder diverticulaAbnormality of the genit HP:0100611 Multiple glomerular cystsAbnormality of the genit HP:0005562 Multiple renal cystsAbnormality of the genit HP:0008659 Multiple small medullary renal cystsAbnormality of the genit HP:0002913 MyoglobinuriaAbnormality of the genit HP:0100848 Neoplasia of the male external genitaliaAbnormality of the genit HP:0100850 Neoplasia of the penisAbnormality of the genit HP:0100849 Neoplasia of the scrotumAbnormality of the genit HP:0007379 Neoplasm of the genitourinary tractAbnormality of the genit HP:0100516 Neoplasm of the ureterAbnormality of the genit HP:0100517 Neoplasm of the urethraAbnormality of the genit HP:0000123 NephritisAbnormality of the genit HP:0002667 Nephroblastoma (Wilms tumor)Abnormality of the genit HP:0008643 NephroblastomatosisAbnormality of the genit HP:0000121 NephrocalcinosisAbnormality of the genit HP:0100880 Nephrogenic restAbnormality of the genit HP:0000787 NephrolithiasisAbnormality of the genit HP:0000090 NephronophthisisAbnormality of the genit HP:0000112 NephropathyAbnormality of the genit HP:0011126 Nephroptosis

Abnormality of the genit HP:0009741 NephrosclerosisAbnormality of the genit HP:0012593 Nephrotic range proteinuriaAbnormality of the genit HP:0000100 Nephrotic syndromeAbnormality of the genit HP:0000011 Neurogenic bladderAbnormality of the genit HP:0008353 Neutral hyperaminoaciduriaAbnormality of the genit HP:0000017 NocturiaAbnormality of the genit HP:0005574 Non-acidotic proximal tubulopathyAbnormality of the genit HP:0011961 Non-obstructive azoospermiaAbnormality of the genit HP:0012208 Nonmotile spermAbnormality of the genit HP:0011962 Obstructive azoospermiaAbnormality of the genit HP:0000876 OligomenorrheaAbnormality of the genit HP:0000798 OligospermiaAbnormality of the genit HP:0100520 OliguriaAbnormality of the genit HP:0100796 OrchitisAbnormality of the genit HP:0001992 Organic aciduriaAbnormality of the genit HP:0003532 OrnithinuriaAbnormality of the genit HP:0000138 Ovarian cystAbnormality of the genit HP:0010618 Ovarian fibromaAbnormality of the genit HP:0000149 Ovarian gonadoblastomaAbnormality of the genit HP:0100615 Ovarian neoplasmAbnormality of the genit HP:0006774 Ovarian papillary adenocarcinomaAbnormality of the genit HP:0012887 Ovarian serous cystadenomaAbnormality of the genit HP:0012226 Ovarian teratomaAbnormality of the genit HP:0003247 Overgrowth of external genitaliaAbnormality of the genit HP:0012861 OvotestisAbnormality of the genit HP:0009715 Papillary cystadenoma of the epididymisAbnormality of the genit HP:0006766 Papillary renal cell carcinomaAbnormality of the genit HP:0011797 Papillary renal cell carcinoma type 1Abnormality of the genit HP:0006732 Papillary renal cell carcinoma type 2Abnormality of the genit HP:0100588 ParaphimosisAbnormality of the genit HP:0003529 Parathormone-independent increased renal tubuAbnormality of the genit HP:0004818 Paroxysmal nocturnal hemoglobinuriaAbnormality of the genit HP:0008708 Partial development of the penile shaftAbnormality of the genit HP:0008670 Partial vaginal septumAbnormality of the genit HP:0008738 Partially duplicated kidneyAbnormality of the genit HP:0010479 Patent urachusAbnormality of the genit HP:0000125 Pelvic kidneyAbnormality of the genit HP:0003244 Penile hypospadiasAbnormality of the genit HP:0000808 Penoscrotal hypospadiasAbnormality of the genit HP:0100600 Penoscrotal transpositionAbnormality of the genit HP:0011796 Perilobar nephroblastomatosisAbnormality of the genit HP:0012782 Perilobar nephrogenic restAbnormality of the genit HP:0004871 Perineal fistulaAbnormality of the genit HP:0000051 Perineal hypospadiasAbnormality of the genit HP:0012784 PerinephritisAbnormality of the genit HP:0012621 Persistent cloacaAbnormality of the genit HP:0001741 PhimosisAbnormality of the genit HP:0003239 PhosphoethanolaminuriaAbnormality of the genit HP:0100515 PollakisuriaAbnormality of the genit HP:0000113 Polycystic kidney dysplasia

Abnormality of the genit HP:0000147 Polycystic ovariesAbnormality of the genit HP:0000103 PolyuriaAbnormality of the genit HP:0100805 Precocious menopauseAbnormality of the genit HP:0008204 Precocious puberty with Sertoli cell tumorAbnormality of the genit HP:0012876 Premature ejaculationAbnormality of the genit HP:0008209 Premature ovarian failureAbnormality of the genit HP:0009793 Presacral teratomaAbnormality of the genit HP:0011963 Pretesticular azoospermiaAbnormality of the genit HP:0200023 PriapismAbnormality of the genit HP:0000786 Primary amenorrheaAbnormality of the genit HP:0001587 Primary ovarian failureAbnormality of the genit HP:0008720 Primary testicular failureAbnormality of the genit HP:0003137 ProlinuriaAbnormality of the genit HP:0008742 Prominent prostate median barAbnormality of the genit HP:0003246 Prominent scrotal rapheAbnormality of the genit HP:0012125 Prostate cancerAbnormality of the genit HP:0100787 Prostate neoplasmAbnormality of the genit HP:0000024 ProstatitisAbnormality of the genit HP:0000093 ProteinuriaAbnormality of the genit HP:0002049 Proximal renal tubular acidosisAbnormality of the genit HP:0000114 Proximal tubulopathyAbnormality of the genit HP:0012330 PyelonephritisAbnormality of the genit HP:0012085 PyuriaAbnormality of the genit HP:0100590 Rectal fistulaAbnormality of the genit HP:0100822 RectoceleAbnormality of the genit HP:0004792 Rectoperineal fistulaAbnormality of the genit HP:0000143 Rectovaginal fistulaAbnormality of the genit HP:0012786 Recurrent cystitisAbnormality of the genit HP:0003652 Recurrent myoglobinuriaAbnormality of the genit HP:0012787 Recurrent pyelonephritisAbnormality of the genit HP:0000010 Recurrent urinary tract infectionsAbnormality of the genit HP:0003513 Reduced ratio of renal calcium clearance to creAbnormality of the genit HP:0005565 Reduced renal corticomedullary differentiationAbnormality of the genit HP:0012207 Reduced sperm motilityAbnormality of the genit HP:0001994 Renal Fanconi syndromeAbnormality of the genit HP:0000104 Renal agenesisAbnormality of the genit HP:0008335 Renal aminoaciduriaAbnormality of the genit HP:0001917 Renal amyloidosisAbnormality of the genit HP:0006772 Renal angiomyolipomaAbnormality of the genit HP:0001920 Renal artery stenosisAbnormality of the genit HP:0012585 Renal atrophyAbnormality of the genit HP:0012637 Renal calcium wastingAbnormality of the genit HP:0005584 Renal cell carcinomaAbnormality of the genit HP:0012602 Renal chloride wastingAbnormality of the genit HP:0006735 Renal cortical adenomaAbnormality of the genit HP:0002048 Renal cortical atrophyAbnormality of the genit HP:0000803 Renal cortical cystsAbnormality of the genit HP:0004734 Renal cortical microcystsAbnormality of the genit HP:0000108 Renal corticomedullary cystsAbnormality of the genit HP:0000107 Renal cyst

Abnormality of the genit HP:0100877 Renal diverticulumAbnormality of the genit HP:0000075 Renal duplicationAbnormality of the genit HP:0000110 Renal dysplasiaAbnormality of the genit HP:0008696 Renal hamartomaAbnormality of the genit HP:0000089 Renal hypoplasiaAbnormality of the genit HP:0008678 Renal hypoplasia/aplasiaAbnormality of the genit HP:0000083 Renal insufficiencyAbnormality of the genit HP:0000111 Renal juxtaglomerular cell hypertrophy/hyperplAbnormality of the genit HP:0005567 Renal magnesium wastingAbnormality of the genit HP:0004712 Renal malrotationAbnormality of the genit HP:0009726 Renal neoplasmAbnormality of the genit HP:0011798 Renal oncocytomaAbnormality of the genit HP:0006762 Renal pelvic carcinomaAbnormality of the genit HP:0000117 Renal phosphate wastingAbnormality of the genit HP:0000128 Renal potassium wastingAbnormality of the genit HP:0000127 Renal salt wastingAbnormality of the genit HP:0008663 Renal sarcomaAbnormality of the genit HP:0012606 Renal sodium wastingAbnormality of the genit HP:0000799 Renal steatosisAbnormality of the genit HP:0001947 Renal tubular acidosisAbnormality of the genit HP:0000124 Renal tubular dysfunctionAbnormality of the genit HP:0008272 Renal tubular lysine transport defectAbnormality of the genit HP:0008660 Renotubular dysgenesisAbnormality of the genit HP:0100817 Renovascular hypertensionAbnormality of the genit HP:0012878 Retarded ejaculationAbnormality of the genit HP:0012646 Retractile testisAbnormality of the genit HP:0012877 Retrograde ejaculationAbnormality of the genit HP:0004713 Reversible renal failureAbnormality of the genit HP:0012855 Scrotal hyperpgimentationAbnormality of the genit HP:0000046 Scrotal hypoplasiaAbnormality of the genit HP:0012853 Scrotal hypospadiasAbnormality of the genit HP:0000869 Secondary amenorrheaAbnormality of the genit HP:0001153 Septate vaginaAbnormality of the genit HP:0100619 Sertoli cell neoplasmAbnormality of the genit HP:0012245 Sex reversalAbnormality of the genit HP:0000049 Shawl scrotumAbnormality of the genit HP:0008691 Solitary bladder diverticulumAbnormality of the genit HP:0012581 Solitary renal cystAbnormality of the genit HP:0005340 Spastic/hyperactive bladderAbnormality of the genit HP:0012865 Sperm head anomalyAbnormality of the genit HP:0012867 Sperm mid-piece anomalyAbnormality of the genit HP:0012866 Sperm neck anomalyAbnormality of the genit HP:0012868 Sperm tail anomalyAbnormality of the genit HP:0012623 Stage 1 chronic kidney diseaseAbnormality of the genit HP:0012624 Stage 2 chronic kidney diseaseAbnormality of the genit HP:0012625 Stage 3 chronic kidney diseaseAbnormality of the genit HP:0012626 Stage 4 chronic kidney diseaseAbnormality of the genit HP:0003774 Stage 5 chronic kidney diseaseAbnormality of the genit HP:0012588 Steroid-resistant nephrotic syndromeAbnormality of the genit HP:0010464 Streak ovary

Abnormality of the genit HP:0010992 Stress urinary incontinenceAbnormality of the genit HP:0010470 Supernumerary testesAbnormality of the genit HP:0009792 TeratomaAbnormality of the genit HP:0000029 Testicular atrophyAbnormality of the genit HP:0008715 Testicular dysgenesisAbnormality of the genit HP:0012860 Testicular fibrosisAbnormality of the genit HP:0000030 Testicular gonadoblastomaAbnormality of the genit HP:0100005 Testicular mesotheliomaAbnormality of the genit HP:0012215 Testicular microlithiasisAbnormality of the genit HP:0010788 Testicular neoplasmAbnormality of the genit HP:0100617 Testicular seminomaAbnormality of the genit HP:0100616 Testicular teratomaAbnormality of the genit HP:0100813 Testicular torsionAbnormality of the genit HP:0004722 Thickening of the glomerular basement membrAbnormality of the genit HP:0012577 Thin glomerular basement membraneAbnormality of the genit HP:0008273 Transient aminoaciduriaAbnormality of the genit HP:0008695 Transient nephrotic syndromeAbnormality of the genit HP:0006740 Transitional cell carcinoma of the bladderAbnormality of the genit HP:0000145 Transverse vaginal septumAbnormality of the genit HP:0003614 TrimethylaminuriaAbnormality of the genit HP:0010459 True hermaphroditismAbnormality of the genit HP:0003361 TryptophanuriaAbnormality of the genit HP:0000092 Tubular atrophyAbnormality of the genit HP:0005583 Tubular basement membrane disintegrationAbnormality of the genit HP:0001969 Tubulointerstitial abnormalityAbnormality of the genit HP:0005576 Tubulointerstitial fibrosisAbnormality of the genit HP:0001970 Tubulointerstitial nephritisAbnormality of the genit HP:0012741 Unilateral cryptorchidismAbnormality of the genit HP:0000122 Unilateral renal agenesisAbnormality of the genit HP:0008717 Unilateral renal atrophyAbnormality of the genit HP:0008718 Unilateral renal dysplasiaAbnormality of the genit HP:0012583 Unilateral renal hypoplasiaAbnormality of the genit HP:0012618 Urachal cystAbnormality of the genit HP:0100525 Urachus fistulaAbnormality of the genit HP:0012572 Ureter duplexAbnormality of the genit HP:0012571 Ureter fissusAbnormality of the genit HP:0012300 Ureteral agenesisAbnormality of the genit HP:0005999 Ureteral atresiaAbnormality of the genit HP:0000073 Ureteral duplicationAbnormality of the genit HP:0008631 Ureteral dysgenesisAbnormality of the genit HP:0006000 Ureteral obstructionAbnormality of the genit HP:0000071 Ureteral stenosisAbnormality of the genit HP:0008705 Ureteral triplicationAbnormality of the genit HP:0000070 UreteroceleAbnormality of the genit HP:0000074 Ureteropelvic junction obstructionAbnormality of the genit HP:0008714 Ureterovesical stenosisAbnormality of the genit HP:0000068 Urethral atresiaAbnormality of the genit HP:0000067 Urethral atresia, femaleAbnormality of the genit HP:0000052 Urethral atresia, maleAbnormality of the genit HP:0008722 Urethral diverticulum

Abnormality of the genit HP:0010480 Urethral fistulaAbnormality of the genit HP:0000796 Urethral obstructionAbnormality of the genit HP:0008664 Urethral sphincter sclerosisAbnormality of the genit HP:0008661 Urethral stenosisAbnormality of the genit HP:0012227 Urethral strictureAbnormality of the genit HP:0010481 Urethral valveAbnormality of the genit HP:0100821 UrethroceleAbnormality of the genit HP:0008716 Urethrovaginal fistulaAbnormality of the genit HP:0000791 Uric acid nephrolithiasisAbnormality of the genit HP:0008651 Uric acid urolithiasis independent of goutAbnormality of the genit HP:0100577 Urinary bladder inflammationAbnormality of the genit HP:0002839 Urinary bladder sphincter dysfunctionAbnormality of the genit HP:0003541 Urinary glycosaminoglycan excretionAbnormality of the genit HP:0000019 Urinary hesitancyAbnormality of the genit HP:0000020 Urinary incontinenceAbnormality of the genit HP:0000016 Urinary retentionAbnormality of the genit HP:0000809 Urinary tract atresiaAbnormality of the genit HP:0010786 Urinary tract neoplasmAbnormality of the genit HP:0000012 Urinary urgencyAbnormality of the genit HP:0100589 Urogenital fistulaAbnormality of the genit HP:0100779 Urogenital sinus anomalyAbnormality of the genit HP:0000131 Uterine leiomyomaAbnormality of the genit HP:0002891 Uterine leiomyosarcomaAbnormality of the genit HP:0010784 Uterine neoplasmAbnormality of the genit HP:0000139 Uterine prolapseAbnormality of the genit HP:0100718 Uterine ruptureAbnormality of the genit HP:0003762 Uterus didelphysAbnormality of the genit HP:0000148 Vaginal atresiaAbnormality of the genit HP:0004320 Vaginal fistulaAbnormality of the genit HP:0100674 Vaginal hematoceleAbnormality of the genit HP:0100672 Vaginal herniaAbnormality of the genit HP:0100673 Vaginal hydroceleAbnormality of the genit HP:0100676 Vaginal lymphoceleAbnormality of the genit HP:0100650 Vaginal neoplasmAbnormality of the genit HP:0100675 Vaginal pyoceleAbnormality of the genit HP:0100677 Vaginal varicoceleAbnormality of the genit HP:0012870 Vanishing testisAbnormality of the genit HP:0012871 VaricoceleAbnormality of the genit HP:0012435 Ventral shortening of foreskinAbnormality of the genit HP:0000076 Vesicoureteral refluxAbnormality of the genit HP:0001586 Vesicovaginal fistulaAbnormality of the genit HP:0000804 Xanthine nephrolithiasis

Abnormality of metabolism/homeostasisAbnormality of metaboli HP:0003607 4-Hydroxyphenylacetic aciduriaAbnormality of metaboli HP:0003161 4-Hydroxyphenylpyruvic aciduriaAbnormality of metaboli HP:0008181 AbetalipoproteinemiaAbnormality of metaboli HP:0011922 Abnormal activity of mitochondrial respiratory cAbnormality of metaboli HP:0012116 Abnormal albumin levelAbnormality of metaboli HP:0012400 Abnormal aldolase levelAbnormality of metaboli HP:0003464 Abnormal cholesterol homeostasis

Abnormality of metaboli HP:0012100 Abnormal circulating creatinine levelAbnormality of metaboli HP:0012338 Abnormal energy expenditureAbnormality of metaboli HP:0012379 Abnormal enzyme/coenzyme activityAbnormality of metaboli HP:0012359 Abnormal fucosylation of O-linked protein glycoAbnormality of metaboli HP:0012352 Abnormal fucosylation of protein N-linked glycoAbnormality of metaboli HP:0011014 Abnormal glucose homeostasisAbnormality of metaboli HP:0001952 Abnormal glucose toleranceAbnormality of metaboli HP:0012345 Abnormal glycosylationAbnormality of metaboli HP:0012337 Abnormal homeostasisAbnormality of metaboli HP:0008306 Abnormal iron deposition in mitochondriaAbnormality of metaboli HP:0003160 Abnormal isoelectric focusing of serum transferAbnormality of metaboli HP:0012355 Abnormal mannosylation of N-linked protein glyAbnormality of metaboli HP:0008316 Abnormal mitochondria in muscle tissueAbnormality of metaboli HP:0008322 Abnormal mitochondrial morphologyAbnormality of metaboli HP:0012102 Abnormal mitochondrial numberAbnormality of metaboli HP:0012087 Abnormal mitochondrial shapeAbnormality of metaboli HP:0004924 Abnormal oral glucose toleranceAbnormality of metaboli HP:0012347 Abnormal protein N-linked glycosylationAbnormality of metaboli HP:0012358 Abnormal protein O-linked glycosylationAbnormality of metaboli HP:0012346 Abnormal protein glycosylationAbnormality of metaboli HP:0012349 Abnormal sialylation of N-linked protein glycosyAbnormality of metaboli HP:0012362 Abnormal sialylation of O-linked protein glycosyAbnormality of metaboli HP:0003254 Abnormality of DNA repairAbnormality of metaboli HP:0000816 Abnormality of Krebs cycle metabolismAbnormality of metaboli HP:0012071 Abnormality of acetylcarnitine metabolismAbnormality of metaboli HP:0004360 Abnormality of acid-base homeostasisAbnormality of metaboli HP:0010916 Abnormality of alanine metabolismAbnormality of metaboli HP:0004379 Abnormality of alkaline phosphatase activityAbnormality of metaboli HP:0004337 Abnormality of amino acid metabolismAbnormality of metaboli HP:0010909 Abnormality of arginine metabolismAbnormality of metaboli HP:0004338 Abnormality of aromatic amino acid family metAbnormality of metaboli HP:0010899 Abnormality of aspartate family amino acid meAbnormality of metaboli HP:0011015 Abnormality of blood glucose concentrationAbnormality of metaboli HP:0010892 Abnormality of branched chain family amino acAbnormality of metaboli HP:0004363 Abnormality of calcium homeostasisAbnormality of metaboli HP:0100530 Abnormality of calcium-phosphate metabolismAbnormality of metaboli HP:0011013 Abnormality of carbohydrate metabolism/homeoAbnormality of metaboli HP:0004354 Abnormality of carboxylic acid metabolismAbnormality of metaboli HP:0010967 Abnormality of carnitine metabolismAbnormality of metaboli HP:0010929 Abnormality of cation homeostasisAbnormality of metaboli HP:0011017 Abnormality of cell physiologyAbnormality of metaboli HP:0004344 Abnormality of cerebrosidase metabolismAbnormality of metaboli HP:0011422 Abnormality of chloride homeostasisAbnormality of metaboli HP:0003107 Abnormality of cholesterol metabolismAbnormality of metaboli HP:0011019 Abnormality of chromosome condensationAbnormality of metaboli HP:0002916 Abnormality of chromosome segregationAbnormality of metaboli HP:0003220 Abnormality of chromosome stabilityAbnormality of metaboli HP:0011021 Abnormality of circulating enzyme levelAbnormality of metaboli HP:0010876 Abnormality of circulating protein levelAbnormality of metaboli HP:0011965 Abnormality of citrulline metabolism

Abnormality of metaboli HP:0010836 Abnormality of copper homeostasisAbnormality of metaboli HP:0012113 Abnormality of creatine metabolismAbnormality of metaboli HP:0010918 Abnormality of cysteine metabolismAbnormality of metaboli HP:0010995 Abnormality of dicarboxylic acid metabolismAbnormality of metaboli HP:0010927 Abnormality of divalent inorganic cation homeoAbnormality of metaboli HP:0010966 Abnormality of fatty-acid anion metabolismAbnormality of metaboli HP:0004359 Abnormality of fatty-acid metabolismAbnormality of metaboli HP:0011032 Abnormality of fluid regulationAbnormality of metaboli HP:0012335 Abnormality of folate metabolismAbnormality of metaboli HP:0004342 Abnormality of galactoside metabolismAbnormality of metaboli HP:0004345 Abnormality of ganglioside metabolismAbnormality of metaboli HP:0010902 Abnormality of glutamine family amino acid meAbnormality of metaboli HP:0010903 Abnormality of glutamine metabolismAbnormality of metaboli HP:0010895 Abnormality of glycine metabolismAbnormality of metaboli HP:0010969 Abnormality of glycolipid metabolismAbnormality of metaboli HP:0004366 Abnormality of glycolysisAbnormality of metaboli HP:0004367 Abnormality of glycoprotein metabolismAbnormality of metaboli HP:0004371 Abnormality of glycosaminoglycan metabolismAbnormality of metaboli HP:0003649 Abnormality of glycoside metabolismAbnormality of metaboli HP:0004343 Abnormality of glycosphingolipid metabolismAbnormality of metaboli HP:0010904 Abnormality of histidine family amino acid metAbnormality of metaboli HP:0010905 Abnormality of histidine metabolismAbnormality of metaboli HP:0010919 Abnormality of homocysteine metabolismAbnormality of metaboli HP:0003111 Abnormality of ion homeostasisAbnormality of metaboli HP:0011031 Abnormality of iron homeostasisAbnormality of metaboli HP:0010912 Abnormality of isoleucine metabolismAbnormality of metaboli HP:0004357 Abnormality of leucine metabolismAbnormality of metaboli HP:0003119 Abnormality of lipid metabolismAbnormality of metaboli HP:0010968 Abnormality of liposaccharide metabolismAbnormality of metaboli HP:0010964 Abnormality of long-chain fatty-acid metabolisAbnormality of metaboli HP:0010908 Abnormality of lysine metabolismAbnormality of metaboli HP:0004356 Abnormality of lysosomal metabolismAbnormality of metaboli HP:0004921 Abnormality of magnesium homeostasisAbnormality of metaboli HP:0001939 Abnormality of metabolism/homeostasisAbnormality of metaboli HP:0010901 Abnormality of methionine metabolismAbnormality of metaboli HP:0003287 Abnormality of mitochondrial metabolismAbnormality of metaboli HP:0010996 Abnormality of monocarboxylic acid metabolisAbnormality of metaboli HP:0010930 Abnormality of monovalent inorganic cation hoAbnormality of metaboli HP:0011020 Abnormality of mucopolysaccharide metabolisAbnormality of metaboli HP:0004364 Abnormality of nitrogen compound homeostasiAbnormality of metaboli HP:0010932 Abnormality of nucleobase metabolismAbnormality of metaboli HP:0012025 Abnormality of ornithine metabolismAbnormality of metaboli HP:0010928 Abnormality of orotic acid metabolismAbnormality of metaboli HP:0010893 Abnormality of phenylalanine metabolismAbnormality of metaboli HP:0100529 Abnormality of phosphate homeostasisAbnormality of metaboli HP:0010965 Abnormality of phytanic acid metabolismAbnormality of metaboli HP:0011012 Abnormality of polysaccharide metabolismAbnormality of metaboli HP:0011042 Abnormality of potassium homeostasisAbnormality of metaboli HP:0010907 Abnormality of proline metabolismAbnormality of metaboli HP:0011023 Abnormality of prostaglandin metabolism

Abnormality of metaboli HP:0004355 Abnormality of proteoglycan metabolismAbnormality of metaboli HP:0004352 Abnormality of purine metabolismAbnormality of metaboli HP:0004353 Abnormality of pyrimidine metabolismAbnormality of metaboli HP:0010915 Abnormality of pyruvate family amino acid metAbnormality of metaboli HP:0010898 Abnormality of sarcosine metabolismAbnormality of metaboli HP:0010894 Abnormality of serine family amino acid metaboAbnormality of metaboli HP:0012278 Abnormality of serine metabolismAbnormality of metaboli HP:0003112 Abnormality of serum amino acid levelsAbnormality of metaboli HP:0010931 Abnormality of sodium homeostasisAbnormality of metaboli HP:0004339 Abnormality of sulfur amino acid metabolismAbnormality of metaboli HP:0004358 Abnormality of superoxide metabolismAbnormality of metaboli HP:0004370 Abnormality of temperature regulationAbnormality of metaboli HP:0011018 Abnormality of the cell cycleAbnormality of metaboli HP:0010472 Abnormality of the heme biosynthetic pathwayAbnormality of metaboli HP:0005559 Abnormality of the kinin-kallikrein systemAbnormality of metaboli HP:0010979 Abnormality of the level of lipoprotein cholesterAbnormality of metaboli HP:0012103 Abnormality of the mitochondrionAbnormality of metaboli HP:0004341 Abnormality of the vitamin B12 metabolismAbnormality of metaboli HP:0100496 Abnormality of the vitamin B3 metabolismAbnormality of metaboli HP:0010900 Abnormality of threonine metabolismAbnormality of metaboli HP:0011030 Abnormality of transition element cation homeoAbnormality of metaboli HP:0004365 Abnormality of tryptophan metabolismAbnormality of metaboli HP:0010917 Abnormality of tyrosine metabolismAbnormality of metaboli HP:0011022 Abnormality of unsaturated fatty acid metaboliAbnormality of metaboli HP:0010914 Abnormality of valine metabolismAbnormality of metaboli HP:0008372 Abnormality of vitamin A metabolismAbnormality of metaboli HP:0004340 Abnormality of vitamin B metabolismAbnormality of metaboli HP:0100509 Abnormality of vitamin C metabolismAbnormality of metaboli HP:0100511 Abnormality of vitamin D metabolismAbnormality of metaboli HP:0100514 Abnormality of vitamin E metabolismAbnormality of metaboli HP:0100831 Abnormality of vitamin K metabolismAbnormality of metaboli HP:0100508 Abnormality of vitamin metabolismAbnormality of metaboli HP:0010933 Abnormality of xanthine metabolismAbnormality of metaboli HP:0008277 Abnormality of zinc homeostasisAbnormality of metaboli HP:0008161 Absent leukocyte alkaline phosphataseAbnormality of metaboli HP:0001941 AcidosisAbnormality of metaboli HP:0008281 Acute hyperammonemiaAbnormality of metaboli HP:0012467 Acute respiratory acidosisAbnormality of metaboli HP:0002932 Aldehyde oxidase deficiencyAbnormality of metaboli HP:0001948 AlkalosisAbnormality of metaboli HP:0011034 AmyloidosisAbnormality of metaboli HP:0012050 AnasarcaAbnormality of metaboli HP:0012068 AspartylglucosaminuriaAbnormality of metaboli HP:0008162 Asymptomatic hyperammonemiaAbnormality of metaboli HP:0012239 AtransferrinemiaAbnormality of metaboli HP:0004922 Atypical hyperphenylalaninemiaAbnormality of metaboli HP:0002157 AzotemiaAbnormality of metaboli HP:0003653 Cellular metachromasiaAbnormality of metaboli HP:0011970 Cerebral amyloid angiopathyAbnormality of metaboli HP:0003221 Chromosomal breakage induced by crosslinkin

Abnormality of metaboli HP:0010997 Chromosomal breakage induced by ionizing radAbnormality of metaboli HP:0012468 Chronic acidosisAbnormality of metaboli HP:0004925 Chronic lactic acidosisAbnormality of metaboli HP:0001996 Chronic metabolic acidosisAbnormality of metaboli HP:0012466 Chronic respiratory acidosisAbnormality of metaboli HP:0008356 Combined hyperlipidemiaAbnormality of metaboli HP:0004902 Congenital lactic acidosisAbnormality of metaboli HP:0002908 Conjugated hyperbilirubinemiaAbnormality of metaboli HP:0003205 Curvilinear intracellular accumulation of autoflAbnormality of metaboli HP:0012309 Cutaneous amyloidosisAbnormality of metaboli HP:0003286 CystathioninemiaAbnormality of metaboli HP:0003206 Decreased activity of NADPH oxidaseAbnormality of metaboli HP:0011925 Decreased activity of mitochondrial ATP synthAbnormality of metaboli HP:0011923 Decreased activity of mitochondrial complex IAbnormality of metaboli HP:0008314 Decreased activity of mitochondrial complex IIAbnormality of metaboli HP:0011924 Decreased activity of mitochondrial complex IIIAbnormality of metaboli HP:0008347 Decreased activity of mitochondrial complex IVAbnormality of metaboli HP:0008972 Decreased activity of mitochondrial respiratory Abnormality of metaboli HP:0002928 Decreased activity of the pyruvate dehydrogenase (PDH) complexAbnormality of metaboli HP:0003145 Decreased adenosylcobalaminAbnormality of metaboli HP:0008166 Decreased beta-galactosidase activityAbnormality of metaboli HP:0003656 Decreased beta-glucocerebrosidase protein and activityAbnormality of metaboli HP:0012353 Decreased fucosylation of N-linked protein glycAbnormality of metaboli HP:0012360 Decreased fucosylation of O-linked protein glycAbnormality of metaboli HP:0003536 Decreased fumarate hydratase activityAbnormality of metaboli HP:0012348 Decreased galactosylation of N-linked protein gAbnormality of metaboli HP:0003568 Decreased glucosephosphate isomerase activitAbnormality of metaboli HP:0012356 Decreased mannosylation of N-linked protein glAbnormality of metaboli HP:0003524 Decreased methionine synthase activityAbnormality of metaboli HP:0003223 Decreased methylcobalaminAbnormality of metaboli HP:0003210 Decreased methylmalonyl-CoA mutase activityAbnormality of metaboli HP:0003234 Decreased plasma carnitineAbnormality of metaboli HP:0008315 Decreased plasma free carnitineAbnormality of metaboli HP:0011936 Decreased plasma total carnitineAbnormality of metaboli HP:0004369 Decreased purine levelsAbnormality of metaboli HP:0003209 Decreased pyruvate carboxylase activityAbnormality of metaboli HP:0012340 Decreased resting energy expenditureAbnormality of metaboli HP:0010837 Decreased serum ceruloplasminAbnormality of metaboli HP:0012101 Decreased serum creatinineAbnormality of metaboli HP:0012343 Decreased serum ferritinAbnormality of metaboli HP:0012350 Decreased sialylation of N-linked protein glycosAbnormality of metaboli HP:0012363 Decreased sialylation of O-linked protein glycosAbnormality of metaboli HP:0012464 Decreased transferrin saturationAbnormality of metaboli HP:0003079 Defective DNA repair after ultraviolet radiation damageAbnormality of metaboli HP:0003490 Defective dehydrogenation of isovaleryl CoA and butyryl CoAAbnormality of metaboli HP:0003264 Deficiency of N-acetylglucosamine-1-phosphotransferaseAbnormality of metaboli HP:0003514 Deficiency or absence of cytochrome b(-245)Abnormality of metaboli HP:0003213 Deficient excision of UV-induced pyrimidine dimers in DNAAbnormality of metaboli HP:0001944 DehydrationAbnormality of metaboli HP:0003533 Delayed oxidation of acetaldehyde

Abnormality of metaboli HP:0000969 EdemaAbnormality of metaboli HP:0012098 Edema of the dorsum of feetAbnormality of metaboli HP:0007514 Edema of the dorsum of handsAbnormality of metaboli HP:0010741 Edema of the lower limbsAbnormality of metaboli HP:0010742 Edema of the upper limbsAbnormality of metaboli HP:0003647 Electron transfer flavoprotein-ubiquinone oxidoreductase defectAbnormality of metaboli HP:0010569 Elevated 7-dehydrocholesterolAbnormality of metaboli HP:0003465 Elevated 8(9)-cholestenolAbnormality of metaboli HP:0003462 Elevated 8-dehydrocholesterolAbnormality of metaboli HP:0011227 Elevated C-reactive protein levelAbnormality of metaboli HP:0012544 Elevated aldolase levelAbnormality of metaboli HP:0003155 Elevated alkaline phosphataseAbnormality of metaboli HP:0010639 Elevated alkaline phosphatase of bone originAbnormality of metaboli HP:0010638 Elevated alkaline phosphatase of hepatic originAbnormality of metaboli HP:0006254 Elevated alpha-fetoproteinAbnormality of metaboli HP:0004639 Elevated amniotic fluid alpha-fetoproteinAbnormality of metaboli HP:0003528 Elevated calcitoninAbnormality of metaboli HP:0008331 Elevated creatine kinase after exerciseAbnormality of metaboli HP:0003565 Elevated erythrocyte sedimentation rateAbnormality of metaboli HP:0012465 Elevated hepatic iron concentrationAbnormality of metaboli HP:0010681 Elevated intestinal alkaline phosphataseAbnormality of metaboli HP:0003358 Elevated intracellular cystineAbnormality of metaboli HP:0008318 Elevated leukocyte alkaline phosphataseAbnormality of metaboli HP:0010571 Elevated levels of phytanic acidAbnormality of metaboli HP:0003455 Elevated long chain fatty acidsAbnormality of metaboli HP:0005984 Elevated maternal serum alpha-fetoproteinAbnormality of metaboli HP:0010682 Elevated placental alkaline phosphataseAbnormality of metaboli HP:0008344 Elevated plasma branched chain amino acidsAbnormality of metaboli HP:0011966 Elevated plasma citrullineAbnormality of metaboli HP:0011864 Elevated plasma pyrophosphateAbnormality of metaboli HP:0003148 Elevated serum acid phosphataseAbnormality of metaboli HP:0003236 Elevated serum creatine phosphokinaseAbnormality of metaboli HP:0003259 Elevated serum creatinineAbnormality of metaboli HP:0012236 Elevated sweat chlorideAbnormality of metaboli HP:0010679 Elevated tissue non-specific alkaline phosphatAbnormality of metaboli HP:0012463 Elevated transferrin saturationAbnormality of metaboli HP:0003163 Elevated urinary delta-aminolevulinic acidAbnormality of metaboli HP:0011977 Elevated urinary homovanillic acidAbnormality of metaboli HP:0011978 Elevated urinary vanillylmandelic acidAbnormality of metaboli HP:0003352 Endopolyploidy on chromosome studies of bonAbnormality of metaboli HP:0001951 Episodic ammonia intoxicationAbnormality of metaboli HP:0001954 Episodic feverAbnormality of metaboli HP:0012726 Episodic hypokalemiaAbnormality of metaboli HP:0005974 Episodic ketoacidosisAbnormality of metaboli HP:0004911 Episodic metabolic acidosisAbnormality of metaboli HP:0003142 Excessive purine productionAbnormality of metaboli HP:0004901 Exercise-induced lactic acidemiaAbnormality of metaboli HP:0001945 FeverAbnormality of metaboli HP:0003610 Fibroblast metachromasiaAbnormality of metaboli HP:0003208 Fingerprint intracellular accumulation of autofl

Abnormality of metaboli HP:0100507 Folate deficiencyAbnormality of metaboli HP:0003564 Folate-dependent fragile site at Xq28Abnormality of metaboli HP:0012537 Food intoleranceAbnormality of metaboli HP:0005973 Fructose intoleranceAbnormality of metaboli HP:0003495 GM2-ganglioside accumulationAbnormality of metaboli HP:0004919 Galactose intoleranceAbnormality of metaboli HP:0012023 GalactosuriaAbnormality of metaboli HP:0100758 GangreneAbnormality of metaboli HP:0003216 Generalized amyloid depositionAbnormality of metaboli HP:0007430 Generalized edemaAbnormality of metaboli HP:0000833 Glucose intoleranceAbnormality of metaboli HP:0003530 Glutaric acidemiaAbnormality of metaboli HP:0003343 Glutathione synthetase deficiencyAbnormality of metaboli HP:0012538 Gluten intoleranceAbnormality of metaboli HP:0012067 GlycopeptiduriaAbnormality of metaboli HP:0003258 Glyoxalase deficiencyAbnormality of metaboli HP:0003657 Granular osmiophilic deposits (GROD) in cellsAbnormality of metaboli HP:0002046 Heat intoleranceAbnormality of metaboli HP:0010838 High nonceruloplasmin-bound serum copperAbnormality of metaboli HP:0003260 HydroxyprolinemiaAbnormality of metaboli HP:0003348 HyperalaninemiaAbnormality of metaboli HP:0012117 HyperalbuminemiaAbnormality of metaboli HP:0012184 HyperalphalipoproteinemiaAbnormality of metaboli HP:0001987 HyperammonemiaAbnormality of metaboli HP:0008158 HyperapobetalipoproteinemiaAbnormality of metaboli HP:0012556 HyperbetaalaninemiaAbnormality of metaboli HP:0003141 HyperbetalipoproteinemiaAbnormality of metaboli HP:0002904 HyperbilirubinemiaAbnormality of metaboli HP:0003072 HypercalcemiaAbnormality of metaboli HP:0011423 HyperchloremiaAbnormality of metaboli HP:0001995 Hyperchloremic acidosisAbnormality of metaboli HP:0003124 HypercholesterolemiaAbnormality of metaboli HP:0012238 HyperchylomicronemiaAbnormality of metaboli HP:0012024 HypergalactosemiaAbnormality of metaboli HP:0003217 HyperglutaminemiaAbnormality of metaboli HP:0003074 HyperglycemiaAbnormality of metaboli HP:0002154 HyperglycinemiaAbnormality of metaboli HP:0010906 HyperhistidinemiaAbnormality of metaboli HP:0002160 HyperhomocystinemiaAbnormality of metaboli HP:0010913 HyperisoleucinemiaAbnormality of metaboli HP:0002153 HyperkalemiaAbnormality of metaboli HP:0005976 Hyperkalemic metabolic acidosisAbnormality of metaboli HP:0010911 HyperleucinemiaAbnormality of metaboli HP:0003077 HyperlipidemiaAbnormality of metaboli HP:0010980 HyperlipoproteinemiaAbnormality of metaboli HP:0002161 HyperlysinemiaAbnormality of metaboli HP:0002918 HypermagnesemiaAbnormality of metaboli HP:0003235 HypermethioninemiaAbnormality of metaboli HP:0003228 HypernatremiaAbnormality of metaboli HP:0012026 Hyperornithinemia

Abnormality of metaboli HP:0003238 Hyperpepsinogenemia IAbnormality of metaboli HP:0004923 HyperphenylalaninemiaAbnormality of metaboli HP:0002905 HyperphosphatemiaAbnormality of metaboli HP:0008358 HyperprolinemiaAbnormality of metaboli HP:0003527 HyperprostaglandinuriaAbnormality of metaboli HP:0002152 HyperproteinemiaAbnormality of metaboli HP:0010896 HypersarcosinemiaAbnormality of metaboli HP:0010897 HypersarcosinuriaAbnormality of metaboli HP:0003354 HyperthreoninemiaAbnormality of metaboli HP:0001986 Hypertonic dehydrationAbnormality of metaboli HP:0002155 HypertriglyceridemiaAbnormality of metaboli HP:0003231 HypertyrosinemiaAbnormality of metaboli HP:0002149 HyperuricemiaAbnormality of metaboli HP:0010910 HypervalinemiaAbnormality of metaboli HP:0003073 HypoalbuminemiaAbnormality of metaboli HP:0003233 HypoalphalipoproteinemiaAbnormality of metaboli HP:0100493 HypoammonemiaAbnormality of metaboli HP:0005961 HypoargininemiaAbnormality of metaboli HP:0003563 HypobetalipoproteinemiaAbnormality of metaboli HP:0002901 HypocalcemiaAbnormality of metaboli HP:0003113 HypochloremiaAbnormality of metaboli HP:0005977 Hypochloremic metabolic alkalosisAbnormality of metaboli HP:0003146 HypocholesterolemiaAbnormality of metaboli HP:0011967 HypocupremiaAbnormality of metaboli HP:0001943 HypoglycemiaAbnormality of metaboli HP:0012277 HypoglycinemiaAbnormality of metaboli HP:0002900 HypokalemiaAbnormality of metaboli HP:0001949 Hypokalemic alkalosisAbnormality of metaboli HP:0001960 Hypokalemic metabolic alkalosisAbnormality of metaboli HP:0001985 Hypoketotic hypoglycemiaAbnormality of metaboli HP:0010981 HypolipoproteinemiaAbnormality of metaboli HP:0002917 HypomagnesemiaAbnormality of metaboli HP:0003658 HypomethioninemiaAbnormality of metaboli HP:0002902 HyponatremiaAbnormality of metaboli HP:0002148 HypophosphatemiaAbnormality of metaboli HP:0003075 HypoproteinemiaAbnormality of metaboli HP:0007609 Hypoproteinemic edemaAbnormality of metaboli HP:0012279 HyposerinemiaAbnormality of metaboli HP:0002045 HypothermiaAbnormality of metaboli HP:0012153 HypotriglyceridemiaAbnormality of metaboli HP:0003537 HypouricemiaAbnormality of metaboli HP:0005959 Impaired gluconeogenesisAbnormality of metaboli HP:0006901 Impaired thermal sensitivityAbnormality of metaboli HP:0011033 Impairment of fructose metabolismAbnormality of metaboli HP:0004915 Impairment of galactose metabolismAbnormality of metaboli HP:0003138 Increased blood urea nitrogen (BUN)Abnormality of metaboli HP:0003224 Increased cellular sensitivity to UV lightAbnormality of metaboli HP:0003362 Increased circulating very-low-density lipoproteAbnormality of metaboli HP:0012187 Increased erythrocyte protoporphyrin concentraAbnormality of metaboli HP:0012354 Increased fucosylation of N-linked protein glyco

Abnormality of metaboli HP:0012361 Increased fucosylation of O-linked protein glycoAbnormality of metaboli HP:0003575 Increased intracellular sodiumAbnormality of metaboli HP:0012357 Increased mannosylation of N-linked protein glAbnormality of metaboli HP:0003240 Increased phosphoribosylpyrophosphate (PRPP) synthetaseAbnormality of metaboli HP:0004368 Increased purine levelsAbnormality of metaboli HP:0003451 Increased rate of premature chromosome condAbnormality of metaboli HP:0012339 Increased resting energy expenditureAbnormality of metaboli HP:0011133 Increased sensitivity to ionizing radiationAbnormality of metaboli HP:0003333 Increased serum beta-hexosaminidaseAbnormality of metaboli HP:0003281 Increased serum ferritinAbnormality of metaboli HP:0003538 Increased serum iduronate sulfatase activityAbnormality of metaboli HP:0003452 Increased serum ironAbnormality of metaboli HP:0002151 Increased serum lactateAbnormality of metaboli HP:0003566 Increased serum prostaglandin E2Abnormality of metaboli HP:0003542 Increased serum pyruvateAbnormality of metaboli HP:0011424 Increased serum zincAbnormality of metaboli HP:0012351 Increased sialylation of N-linked protein glycosyAbnormality of metaboli HP:0010998 Increased susceptibility to spontaneous sisterAbnormality of metaboli HP:0003573 Increased total bilirubinAbnormality of metaboli HP:0003461 Increased urinary O-linked sialopeptidesAbnormality of metaboli HP:0010839 Increased urinary copper concentrationAbnormality of metaboli HP:0012066 Increased urinary disaccharide excretionAbnormality of metaboli HP:0011814 Increased urinary hypoxanthineAbnormality of metaboli HP:0012217 Increased urinary porphobilinogenAbnormality of metaboli HP:0008250 Infantile hypercalcemiaAbnormality of metaboli HP:0008189 Insulin insensitivityAbnormality of metaboli HP:0000855 Insulin resistanceAbnormality of metaboli HP:0005964 Intermittent hypothermiaAbnormality of metaboli HP:0004913 Intermittent lactic acidemiaAbnormality of metaboli HP:0001984 Intolerance to proteinAbnormality of metaboli HP:0006916 Intraaxonal accumulation of curvilinear autofluAbnormality of metaboli HP:0003204 Intracellular accumulation of autofluorescent lAbnormality of metaboli HP:0001993 KetoacidosisAbnormality of metaboli HP:0001946 KetosisAbnormality of metaboli HP:0012734 Ketotic hypoglycemiaAbnormality of metaboli HP:0003128 Lactic acidosisAbnormality of metaboli HP:0100695 LipedemaAbnormality of metaboli HP:0100950 Long chain 3 hydroxyacyl coA dehydrogenase deficiencyAbnormality of metaboli HP:0003282 Low alkaline phosphataseAbnormality of metaboli HP:0010684 Low alkaline phosphatase of bone originAbnormality of metaboli HP:0010686 Low alkaline phosphatase of hepatic originAbnormality of metaboli HP:0003349 Low cholesterol esterification ratesAbnormality of metaboli HP:0010687 Low intestinal alkaline phosphataseAbnormality of metaboli HP:0010688 Low placental alkaline phosphataseAbnormality of metaboli HP:0003572 Low plasma citrullineAbnormality of metaboli HP:0012053 Low serum calcifediol (25-hydroxycholecalciferoAbnormality of metaboli HP:0012052 Low serum calcitriol (1,25-dihydroxycholecalcifeAbnormality of metaboli HP:0010683 Low tissue non-specific alkaline phosphataseAbnormality of metaboli HP:0011134 Low-grade feverAbnormality of metaboli HP:0001004 Lymphedema

Abnormality of metaboli HP:0200118 Malabsorption of Vitamin B12Abnormality of metaboli HP:0002047 Malignant hyperthermiaAbnormality of metaboli HP:0001942 Metabolic acidosisAbnormality of metaboli HP:0200114 Metabolic alkalosisAbnormality of metaboli HP:0005979 Metabolic ketoacidosisAbnormality of metaboli HP:0002912 Methylmalonic acidemiaAbnormality of metaboli HP:0008180 Mildly elevated creatine phosphokinaseAbnormality of metaboli HP:0008265 Mitochondrial lysine transport defectAbnormality of metaboli HP:0003232 Mitochondrial malic enzyme reducedAbnormality of metaboli HP:0003288 Mitochondrial propionyl-CoA carboxylase (PCC) defectAbnormality of metaboli HP:0200125 Mitochondrial respiratory chain defectsAbnormality of metaboli HP:0005967 Mixed respiratory and metabolic acidosisAbnormality of metaboli HP:0003570 Molybdenum cofactor deficiencyAbnormality of metaboli HP:0100748 Muscular edemaAbnormality of metaboli HP:0003265 Neonatal hyperbilirubinemiaAbnormality of metaboli HP:0001998 Neonatal hypoglycemiaAbnormality of metaboli HP:0008360 Neonatal hypoproteinemiaAbnormality of metaboli HP:0008176 Neonatal unconjugated hyperbilirubinemiaAbnormality of metaboli HP:0008288 Nonketotic hyperglycinemiaAbnormality of metaboli HP:0001958 Nonketotic hypoglycemiaAbnormality of metaboli HP:0010471 OligosacchariduriaAbnormality of metaboli HP:0003526 Orotic acid crystalluriaAbnormality of metaboli HP:0003218 OroticaciduriaAbnormality of metaboli HP:0012398 Peripheral edemaAbnormality of metaboli HP:0004898 Persistent lactic acidosisAbnormality of metaboli HP:0004920 Phenylpyruvic acidemiaAbnormality of metaboli HP:0010473 PorphyrinuriaAbnormality of metaboli HP:0003612 Positive ferric chloride testAbnormality of metaboli HP:0011998 Postprandial hyperglycemiaAbnormality of metaboli HP:0011997 Postprandial hyperlactemiaAbnormality of metaboli HP:0003550 Predominantly lower limb lymphedemaAbnormality of metaboli HP:0200024 Premature chromatid separationAbnormality of metaboli HP:0003616 Premature separation of centromeric heterochromatinAbnormality of metaboli HP:0003214 Prolonged G2 phase of cell cycleAbnormality of metaboli HP:0003571 PropionicacidemiaAbnormality of metaboli HP:0003353 Propionyl-CoA carboxylase deficiencyAbnormality of metaboli HP:0100598 Pulmonary edemaAbnormality of metaboli HP:0012051 Reactive hypoglycemiaAbnormality of metaboli HP:0003226 Rectilinear intracellular accumulation of autoflAbnormality of metaboli HP:0001988 Recurrent hypoglycemiaAbnormality of metaboli HP:0004914 Recurrent infantile hypoglycemiaAbnormality of metaboli HP:0003637 Reduced 4-Hydroxyphenylpyruvate dioxygenase Abnormality of metaboli HP:0003655 Reduced activity of N-acetylglucosaminyltransfeAbnormality of metaboli HP:0012545 Reduced aldolase levelAbnormality of metaboli HP:0012380 Reduced carnitine O-palmitoyltransferase activiAbnormality of metaboli HP:0012517 Reduced catalase activityAbnormality of metaboli HP:0012336 Reduced cerebrospinal fluid 5-methyltetrahydroAbnormality of metaboli HP:0003654 Reduced dihydropyrimidine dehydrogenase actiAbnormality of metaboli HP:0004852 Reduced leukocyte alkaline phosphataseAbnormality of metaboli HP:0003267 Reduced orotidine 5-prime phosphate decarboxy

Abnormality of metaboli HP:0005982 Reduced phenylalanine hydroxylase activityAbnormality of metaboli HP:0012509 Reduced thyroxin-binding globulinAbnormality of metaboli HP:0003534 Reduced xanthine dehydrogenase activityAbnormality of metaboli HP:0008732 Renal hypophosphatemiaAbnormality of metaboli HP:0005972 Respiratory acidosisAbnormality of metaboli HP:0001950 Respiratory alkalosisAbnormality of metaboli HP:0004900 Severe lactic acidosisAbnormality of metaboli HP:0004897 Stress/infection-induced lactic acidosisAbnormality of metaboli HP:0003643 Sulfite oxidase deficiencyAbnormality of metaboli HP:0005968 Temperature instabilityAbnormality of metaboli HP:0008279 Transient hyperlipidemiaAbnormality of metaboli HP:0008297 Transient hyperphenylalaninemiaAbnormality of metaboli HP:0008285 Transient hypophosphatemiaAbnormality of metaboli HP:0003642 Type I transferrin isoform profileAbnormality of metaboli HP:0012301 Type II transferrin isoform profileAbnormality of metaboli HP:0008282 Unconjugated hyperbilirubinemiaAbnormality of metaboli HP:0001955 Unexplained feversAbnormality of metaboli HP:0012127 UraciluriaAbnormality of metaboli HP:0012061 Urinary excretion of sialylated oligosaccharidesAbnormality of metaboli HP:0012237 Urocanic aciduriaAbnormality of metaboli HP:0008167 Very long chain fatty acid accumulationAbnormality of metaboli HP:0004905 Vitamin A deficiencyAbnormality of metaboli HP:0100503 Vitamin B1 deficiencyAbnormality of metaboli HP:0100502 Vitamin B12 deficiencyAbnormality of metaboli HP:0100504 Vitamin B2 deficiencyAbnormality of metaboli HP:0100497 Vitamin B3 deficiencyAbnormality of metaboli HP:0100505 Vitamin B5 deficiencyAbnormality of metaboli HP:0008326 Vitamin B6 deficiencyAbnormality of metaboli HP:0100506 Vitamin B8 deficiencyAbnormality of metaboli HP:0100510 Vitamin C deficiencyAbnormality of metaboli HP:0100512 Vitamin D deficiencyAbnormality of metaboli HP:0100513 Vitamin E deficiencyAbnormality of metaboli HP:0011892 Vitamin K deficiencyAbnormality of metaboli HP:0010934 XanthinuriaAbnormality of metaboli HP:0004918 hyperchloremic metabolic acidosisAbnormality of metaboli HP:0004906 hypernatremic dehydrationAbnormality of metaboli HP:0004909 hypokalemic hypochloremic metabolic alkalosisAbnormality of metaboli HP:0012202 increased serum bile acid concentrationAbnormality of metaboli HP:0200150 increased serum bile acid concentration during pregnancy

Abnormality of the cardiovascular systemAbnormality of the cardi HP:0011717 AV nodal reentry tachycardiaAbnormality of the cardi HP:0011687 AV nodal tachycardiaAbnormality of the cardi HP:0004953 Abdominal aortic aneurysmAbnormality of the cardi HP:0011582 Abdominal ectopia cordisAbnormality of the cardi HP:0003115 Abnormal EKGAbnormality of the cardi HP:0012249 Abnormal ST segmentAbnormality of the cardi HP:0004307 Abnormal anatomic location of the heartAbnormality of the cardi HP:0011535 Abnormal atrial arrangementAbnormality of the cardi HP:0005150 Abnormal atrioventricular conductionAbnormality of the cardi HP:0011546 Abnormal atrioventricular connection

Abnormality of the cardi HP:0011587 Abnormal branching pattern of the aortic archAbnormality of the cardi HP:0011545 Abnormal connection of the cardiac segmentsAbnormality of the cardi HP:0011686 Abnormal coronary artery courseAbnormality of the cardi HP:0011600 Abnormal direction of ventricular apexAbnormality of the cardi HP:0003116 Abnormal echocardiogramAbnormality of the cardi HP:0011702 Abnormal electrophysiology of sinoatrial node oAbnormality of the cardi HP:0011636 Abnormal origin of the coronary arteriesAbnormality of the cardi HP:0011534 Abnormal spatial orientation of the cardiac segmentsAbnormality of the cardi HP:0006683 Abnormal ventricular fillingAbnormality of the cardi HP:0011563 Abnormal ventriculo-arterial connectionAbnormality of the cardi HP:0005114 Abnormalities of the peripheral arteriesAbnormality of the cardi HP:0011028 Abnormality of blood circulationAbnormality of the cardi HP:0011104 Abnormality of blood volume homeostasisAbnormality of the cardi HP:0005120 Abnormality of cardiac atriumAbnormality of the cardi HP:0001627 Abnormality of cardiac morphologyAbnormality of the cardi HP:0001713 Abnormality of cardiac ventricleAbnormality of the cardi HP:0011025 Abnormality of cardiovascular system physioloAbnormality of the cardi HP:0010947 Abnormality of ductus venosus blood flowAbnormality of the cardi HP:0001679 Abnormality of the aortaAbnormality of the cardi HP:0012303 Abnormality of the aortic archAbnormality of the cardi HP:0001646 Abnormality of the aortic valveAbnormality of the cardi HP:0011994 Abnormality of the atrial septumAbnormality of the cardi HP:0006705 Abnormality of the atrioventricular valvesAbnormality of the cardi HP:0001671 Abnormality of the cardiac septaAbnormality of the cardi HP:0001626 Abnormality of the cardiovascular systemAbnormality of the cardi HP:0005344 Abnormality of the carotid arteriesAbnormality of the cardi HP:0012326 Abnormality of the celiac arteryAbnormality of the cardi HP:0006704 Abnormality of the coronary arteriesAbnormality of the cardi HP:0011642 Abnormality of the coronary sinusAbnormality of the cardi HP:0004306 Abnormality of the endocardiumAbnormality of the cardi HP:0010948 Abnormality of the fetal cardiovascular systemAbnormality of the cardi HP:0001654 Abnormality of the heart valvesAbnormality of the cardi HP:0001711 Abnormality of the left ventricleAbnormality of the cardi HP:0011103 Abnormality of the left ventricular outflow tractAbnormality of the cardi HP:0001633 Abnormality of the mitral valveAbnormality of the cardi HP:0001637 Abnormality of the myocardiumAbnormality of the cardi HP:0001697 Abnormality of the pericardiumAbnormality of the cardi HP:0004414 Abnormality of the pulmonary arteryAbnormality of the cardi HP:0001641 Abnormality of the pulmonary valveAbnormality of the cardi HP:0004930 Abnormality of the pulmonary vasculatureAbnormality of the cardi HP:0011718 Abnormality of the pulmonary veinsAbnormality of the cardi HP:0001707 Abnormality of the right ventricleAbnormality of the cardi HP:0011004 Abnormality of the systemic arterial treeAbnormality of the cardi HP:0001702 Abnormality of the tricuspid valveAbnormality of the cardi HP:0002597 Abnormality of the vasculatureAbnormality of the cardi HP:0005345 Abnormality of the vena cavaAbnormality of the cardi HP:0010438 Abnormality of the ventricular septumAbnormality of the cardi HP:0005134 Absence of the pulmonary valveAbnormality of the cardi HP:0006681 Absent atrioventricular nodeAbnormality of the cardi HP:0011547 Absent left sided atrioventricular connection

Abnormality of the cardi HP:0004960 Absent pulmonary arteryAbnormality of the cardi HP:0011548 Absent right sided atrioventricular connectionAbnormality of the cardi HP:0011666 Absent right superior vena cavaAbnormality of the cardi HP:0004943 Accelerated atherosclerosisAbnormality of the cardi HP:0005311 Agenesis of pulmonary vesselsAbnormality of the cardi HP:0011552 Ambiguous atrioventricular connectionAbnormality of the cardi HP:0200126 Amyolid cardiomyopathyAbnormality of the cardi HP:0002617 AneurysmAbnormality of the cardi HP:0002636 Aneurysm of an abdominal arteryAbnormality of the cardi HP:0001681 Angina pectorisAbnormality of the cardi HP:0005314 Anomalous branches of internal carotid arteryAbnormality of the cardi HP:0011637 Anomalous origin of coronary artery from the pAbnormality of the cardi HP:0011638 Anomalous origin of left coronary artery from tAbnormality of the cardi HP:0011661 Anomalous origin of left pulmonary artery fromAbnormality of the cardi HP:0011660 Anomalous origin of one pulmonary artery fromAbnormality of the cardi HP:0011639 Anomalous origin of right coronary artery from Abnormality of the cardi HP:0005143 Anomalous origin of right pulmonary artery froAbnormality of the cardi HP:0010772 Anomalous pulmonary venous returnAbnormality of the cardi HP:0004942 Aortic aneurysmAbnormality of the cardi HP:0012397 Aortic atherosclerosisAbnormality of the cardi HP:0001724 Aortic dilatationAbnormality of the cardi HP:0002647 Aortic dissectionAbnormality of the cardi HP:0001659 Aortic regurgitationAbnormality of the cardi HP:0002616 Aortic root dilatationAbnormality of the cardi HP:0006687 Aortic tortuosityAbnormality of the cardi HP:0010883 Aortic valve atresiaAbnormality of the cardi HP:0001650 Aortic valve stenosisAbnormality of the cardi HP:0011627 Aorto-ventricular tunnelAbnormality of the cardi HP:0011604 Aortopulmonary windowAbnormality of the cardi HP:0011624 Apical muscular ventricular septal defectAbnormality of the cardi HP:0012222 Arachnoid hemangiomatosisAbnormality of the cardi HP:0011675 ArrhythmiaAbnormality of the cardi HP:0005794 Arterial disease of legsAbnormality of the cardi HP:0005294 Arterial dissectionAbnormality of the cardi HP:0005313 Arterial fibromuscular dysplasiaAbnormality of the cardi HP:0011353 Arterial intimal fibrosisAbnormality of the cardi HP:0100545 Arterial stenosisAbnormality of the cardi HP:0005116 Arterial tortuosityAbnormality of the cardi HP:0002634 ArteriosclerosisAbnormality of the cardi HP:0004947 Arteriovenous fistulaAbnormality of the cardi HP:0002642 Arteriovenous fistulas of celiac and mesenteric vesselsAbnormality of the cardi HP:0100026 Arteriovenous malformationAbnormality of the cardi HP:0012089 ArteritisAbnormality of the cardi HP:0002631 Ascending aortic aneurysmAbnormality of the cardi HP:0004970 Ascending aortic dilationAbnormality of the cardi HP:0004933 Ascending aortic dissectionAbnormality of the cardi HP:0001670 Asymmetric septal hypertrophyAbnormality of the cardi HP:0002635 AtheromatosisAbnormality of the cardi HP:0002621 AtherosclerosisAbnormality of the cardi HP:0200127 Atrial cardiomyopathy

Abnormality of the cardi HP:0005110 Atrial fibrillationAbnormality of the cardi HP:0004749 Atrial flutterAbnormality of the cardi HP:0011699 Atrial reentry tachycardiaAbnormality of the cardi HP:0011995 Atrial septal aneurysmAbnormality of the cardi HP:0011539 Atrial situs ambiguousAbnormality of the cardi HP:0011538 Atrial situs inversusAbnormality of the cardi HP:0001678 Atrioventricular blockAbnormality of the cardi HP:0006695 Atrioventricular canal defectAbnormality of the cardi HP:0005298 Atrioventricular canal defect with right ventriclAbnormality of the cardi HP:0011709 Atrioventricular dissociationAbnormality of the cardi HP:0011700 Automatic atrial tachycardiaAbnormality of the cardi HP:0006689 Bacterial endocarditisAbnormality of the cardi HP:0001647 Bicuspid aortic valveAbnormality of the cardi HP:0005182 Bicuspid pulmonary valveAbnormality of the cardi HP:0012383 Bidirectional shuntAbnormality of the cardi HP:0005147 Bidirectional ventricular ectopyAbnormality of the cardi HP:0011650 Bilateral ductus arteriosusAbnormality of the cardi HP:0011667 Bilateral superior vena cava with bridging veinAbnormality of the cardi HP:0011668 Bilateral superior vena cava with no bridging veinAbnormality of the cardi HP:0011550 Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventriculaAbnormality of the cardi HP:0200128 Biventricular hypertrophyAbnormality of the cardi HP:0012818 Biventricular noncompaction cardiomyopathyAbnormality of the cardi HP:0001662 BradycardiaAbnormality of the cardi HP:0002639 Budd-Chiari syndromeAbnormality of the cardi HP:0011710 Bundle branch blockAbnormality of the cardi HP:0005173 Calcific aortic valve stenosisAbnormality of the cardi HP:0005306 Capillary hemangiomasAbnormality of the cardi HP:0001695 Cardiac arrestAbnormality of the cardi HP:0100571 Cardiac diverticulumAbnormality of the cardi HP:0010617 Cardiac fibromaAbnormality of the cardi HP:0011673 Cardiac hemangiomaAbnormality of the cardi HP:0011672 Cardiac myxomaAbnormality of the cardi HP:0009729 Cardiac rhabdomyomaAbnormality of the cardi HP:0001693 Cardiac shuntAbnormality of the cardi HP:0011674 Cardiac teratomaAbnormality of the cardi HP:0011720 Cardiac total anomalous pulmonary venous conAbnormality of the cardi HP:0001640 CardiomegalyAbnormality of the cardi HP:0001638 CardiomyopathyAbnormality of the cardi HP:0012163 Carotid artery aneurysmAbnormality of the cardi HP:0012158 Carotid artery dissectionAbnormality of the cardi HP:0012474 Carotid artery occlusionAbnormality of the cardi HP:0100546 Carotid artery stenosisAbnormality of the cardi HP:0005302 Carotid artery tortuosityAbnormality of the cardi HP:0012669 Carotid sinus syncopeAbnormality of the cardi HP:0001048 Cavernous hemangiomaAbnormality of the cardi HP:0007486 Cavernous hemangioma of the faceAbnormality of the cardi HP:0100858 Celiac artery aneurysmAbnormality of the cardi HP:0012327 Celiac artery compressionAbnormality of the cardi HP:0011588 Cervical aortic archAbnormality of the cardi HP:0011583 Cervical ectopia cordis

Abnormality of the cardi HP:0011725 Chaotic multifocal atrial tachycardiaAbnormality of the cardi HP:0011852 ChylopericardiumAbnormality of the cardi HP:0011569 Cleft anterior mitral valve leafletAbnormality of the cardi HP:0004974 Coarctation of abdominal aortaAbnormality of the cardi HP:0001680 Coarctation of aortaAbnormality of the cardi HP:0012305 Coarctation of the descending aortic archAbnormality of the cardi HP:0011565 Common atriumAbnormality of the cardi HP:0012162 Common carotid artery dissectionAbnormality of the cardi HP:0011589 Common origin of the right brachiocephalic arteAbnormality of the cardi HP:0001674 Complete atrioventricular canal defectAbnormality of the cardi HP:0011630 Complete diaphragmatic absence of pericardiuAbnormality of the cardi HP:0005170 Complete heart block with broad RS complexesAbnormality of the cardi HP:0005178 Complete heart block with narrow QRS complexesAbnormality of the cardi HP:0011633 Complete left sided absence of pericardiumAbnormality of the cardi HP:0011631 Complete right sided absence of pericardiumAbnormality of the cardi HP:0005157 Concentric hypertrophic cardiomyopathyAbnormality of the cardi HP:0004752 Congenital atrioventricular dissociationAbnormality of the cardi HP:0011628 Congenital defect of the pericardiumAbnormality of the cardi HP:0005129 Congenital hypertrophy of left ventricleAbnormality of the cardi HP:0011603 Congenital malformation of the great arteriesAbnormality of the cardi HP:0011723 Congenital malformation of the right heartAbnormality of the cardi HP:0011570 Congenital mitral stenosisAbnormality of the cardi HP:0012022 Congenital portosystemic venous shuntAbnormality of the cardi HP:0004760 Congenital septal defectAbnormality of the cardi HP:0011540 Congenitally corrected transposition of the greaAbnormality of the cardi HP:0011605 Congenitally corrected transposition of the great arteries with ventricular septal defectAbnormality of the cardi HP:0200130 Congestive cardiomyopathyAbnormality of the cardi HP:0001635 Congestive heart failureAbnormality of the cardi HP:0001710 Conotruncal defectAbnormality of the cardi HP:0002563 Constrictive pericarditisAbnormality of the cardi HP:0001648 Cor pulmonaleAbnormality of the cardi HP:0010774 Cor triatriatrumAbnormality of the cardi HP:0011566 Cor triatriatum dexterAbnormality of the cardi HP:0001677 Coronary artery diseaseAbnormality of the cardi HP:0011641 Coronary artery fistulaAbnormality of the cardi HP:0005145 Coronary artery stenosisAbnormality of the cardi HP:0004929 Coronary atherosclerosisAbnormality of the cardi HP:0011643 Coronary sinus atrial septal defectAbnormality of the cardi HP:0011644 Coronary sinus diverticulumAbnormality of the cardi HP:0011541 Criss-cross atrioventricular valvesAbnormality of the cardi HP:0011542 Criss-cross atrioventricular valves with superior-inferior ventriclesAbnormality of the cardi HP:0012180 Cystic medial necrosisAbnormality of the cardi HP:0200146 Cystic medial necrosis of the aortaAbnormality of the cardi HP:0001631 Defect in the atrial septumAbnormality of the cardi HP:0004954 Descending aortic aneurysmAbnormality of the cardi HP:0012499 Descending aortic dissectionAbnormality of the cardi HP:0001651 DextrocardiaAbnormality of the cardi HP:0005112 Dilatation of the abdominal aortaAbnormality of the cardi HP:0005113 Dilatation of the aortic archAbnormality of the cardi HP:0005111 Dilatation of the ascending aorta

Abnormality of the cardi HP:0004959 Dilatation of the descending thoracic aortaAbnormality of the cardi HP:0001644 Dilated cardiomyopathyAbnormality of the cardi HP:0011553 Discordant atrioventricular connectionAbnormality of the cardi HP:0002622 Dissecting aortic aneurysmAbnormality of the cardi HP:0011590 Double aortic archAbnormality of the cardi HP:0011554 Double inlet atrioventricular connectionAbnormality of the cardi HP:0011555 Double inlet left ventricleAbnormality of the cardi HP:0011556 Double inlet right ventricleAbnormality of the cardi HP:0011557 Double inlet to single ventricle of indeterminatAbnormality of the cardi HP:0011558 Double inlet to single ventricle with common atrioventricular orificeAbnormality of the cardi HP:0011559 Double inlet to single ventricle with two atrioventricular valvesAbnormality of the cardi HP:0011568 Double orifice mitral valveAbnormality of the cardi HP:0011581 Double outlet left ventricleAbnormality of the cardi HP:0001719 Double outlet right ventricleAbnormality of the cardi HP:0011651 Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosisAbnormality of the cardi HP:0011652 Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosisAbnormality of the cardi HP:0011653 Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosisAbnormality of the cardi HP:0011654 Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosisAbnormality of the cardi HP:0011655 Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosisAbnormality of the cardi HP:0011656 Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosisAbnormality of the cardi HP:0011657 Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosisAbnormality of the cardi HP:0011658 Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosisAbnormality of the cardi HP:0005176 Dysplastic aortic valveAbnormality of the cardi HP:0005164 Dysplastic pulmonary valveAbnormality of the cardi HP:0005135 EKG: T-wave abnormalitiesAbnormality of the cardi HP:0010872 EKG: T-wave inversionAbnormality of the cardi HP:0010316 Ebstein's anomaly of the tricuspid valveAbnormality of the cardi HP:0001683 Ectopia cordisAbnormality of the cardi HP:0006699 Ectopic supraventricular rhythmsAbnormality of the cardi HP:0004758 Effort-induced polymorphic ventricular tachycardiasAbnormality of the cardi HP:0005117 Elevated diastolic blood pressureAbnormality of the cardi HP:0004972 Elevated mean arterial pressureAbnormality of the cardi HP:0004890 Elevated pulmonary artery pressureAbnormality of the cardi HP:0005168 Elevated right atrial pressureAbnormality of the cardi HP:0004421 Elevated systolic blood pressureAbnormality of the cardi HP:0001706 Endocardial fibroelastosisAbnormality of the cardi HP:0006685 Endocardial fibrosisAbnormality of the cardi HP:0100584 EndocarditisAbnormality of the cardi HP:0005141 Episodes of ventricular tachycardiaAbnormality of the cardi HP:0000875 Episodic hypertensionAbnormality of the cardi HP:0004765 Episodic supraventricular tachycardiaAbnormality of the cardi HP:0012161 External carotid artery dissectionAbnormality of the cardi HP:0004945 Extracranial internal carotid artery dissectionAbnormality of the cardi HP:0100572 Fibrous cardiac diverticulumAbnormality of the cardi HP:0011705 First degree atrioventricular blockAbnormality of the cardi HP:0003651 Foam cellsAbnormality of the cardi HP:0003640 Foam cells in visceral organs and CNSAbnormality of the cardi HP:0003609 Foam cells with lamellar inclusion bodiesAbnormality of the cardi HP:0003338 Focal necrosis of right ventricular muscle cellsAbnormality of the cardi HP:0012728 Fusiform descending thoracic aortic aneurysm

Abnormality of the cardi HP:0004955 Generalized arterial tortuosityAbnormality of the cardi HP:0011621 Gerbode ventricular septal defectAbnormality of the cardi HP:0001076 Glabellar hemangiomaAbnormality of the cardi HP:0005185 Global systolic dysfunctionAbnormality of the cardi HP:0006679 Granulomatous coronary arteritisAbnormality of the cardi HP:0012722 Heart blockAbnormality of the cardi HP:0001028 HemangiomaAbnormality of the cardi HP:0007461 HemangiomatosisAbnormality of the cardi HP:0011851 HemopericardiumAbnormality of the cardi HP:0001722 High-output congestive heart failureAbnormality of the cardi HP:0000822 HypertensionAbnormality of the cardi HP:0002640 Hypertension associated with pheochromocytAbnormality of the cardi HP:0100735 Hypertensive crisisAbnormality of the cardi HP:0001639 Hypertrophic cardiomyopathyAbnormality of the cardi HP:0011105 HypervolemiaAbnormality of the cardi HP:0004762 Hypoplasia of right ventricleAbnormality of the cardi HP:0012304 Hypoplastic aortic archAbnormality of the cardi HP:0001961 Hypoplastic heartAbnormality of the cardi HP:0005156 Hypoplastic left atriumAbnormality of the cardi HP:0004383 Hypoplastic left heartAbnormality of the cardi HP:0005304 Hypoplastic pulmonary veinsAbnormality of the cardi HP:0010954 Hypoplastic right heartAbnormality of the cardi HP:0011573 Hypoplastic tricuspid valveAbnormality of the cardi HP:0002615 HypotensionAbnormality of the cardi HP:0011106 HypovolemiaAbnormality of the cardi HP:0005162 Impaired left ventricular functionAbnormality of the cardi HP:0006670 Impaired myocardial contractilityAbnormality of the cardi HP:0011574 Imperforate atrioventricular valveAbnormality of the cardi HP:0011575 Imperforate tricuspid valveAbnormality of the cardi HP:0012273 Increased carotid artery intimal medial thicknesAbnormality of the cardi HP:0001726 Increased prevalence of valvular diseaseAbnormality of the cardi HP:0005317 Increased pulmonary vascular resistanceAbnormality of the cardi HP:0100860 Inferior mesenteric artery aneurysmAbnormality of the cardi HP:0005291 Inflammatory arteriopathyAbnormality of the cardi HP:0011685 Infra-aortic superior vena cavaAbnormality of the cardi HP:0011721 Infracardiac total anomalous pulmonary venousAbnormality of the cardi HP:0011622 Inlet ventricular septal defectAbnormality of the cardi HP:0011576 Intermediate atrioventricular canal defectAbnormality of the cardi HP:0004417 Intermittent claudicationAbnormality of the cardi HP:0012159 Internal carotid artery dissectionAbnormality of the cardi HP:0005290 Internal carotid artery hypoplasiaAbnormality of the cardi HP:0011029 Internal hemorrhageAbnormality of the cardi HP:0011611 Interrupted aortic archAbnormality of the cardi HP:0011612 Interrupted aortic arch type AAbnormality of the cardi HP:0011613 Interrupted aortic arch type BAbnormality of the cardi HP:0011614 Interrupted aortic arch type CAbnormality of the cardi HP:0011671 Interrupted inferior vena cava with azygous conAbnormality of the cardi HP:0005292 Intimal thickening in the coronary arteriesAbnormality of the cardi HP:0012160 Intracranial internal carotid artery dissectionAbnormality of the cardi HP:0012272 J wave

Abnormality of the cardi HP:0011716 Junctional ectopic tachycardiaAbnormality of the cardi HP:0011646 Juxtaductal coarctation of the aortaAbnormality of the cardi HP:0011544 L-looping of the right ventricleAbnormality of the cardi HP:0005310 Large vessel vasculitisAbnormality of the cardi HP:0100885 Lateral venous anomalyAbnormality of the cardi HP:0011711 Left anterior fascicular blockAbnormality of the cardi HP:0011591 Left aortic arch with cervical origin of the right subclavian arteryAbnormality of the cardi HP:0011592 Left aortic arch with isolated subclavian arteryAbnormality of the cardi HP:0011593 Left aortic arch with retroesophageal diverticuAbnormality of the cardi HP:0011595 Left aortic arch with retroesophageal right subcAbnormality of the cardi HP:0011596 Left aortic arch with right descending aorta andAbnormality of the cardi HP:0011537 Left atrial isomerismAbnormality of the cardi HP:0011713 Left bundle branch blockAbnormality of the cardi HP:0005172 Left postterior fascicular blockAbnormality of the cardi HP:0011669 Left superior vena cava draining directly to the left atriumAbnormality of the cardi HP:0011670 Left superior vena cava draining to coronary sinusAbnormality of the cardi HP:0001712 Left ventricular hypertrophyAbnormality of the cardi HP:0011664 Left ventricular noncompaction cardiomyopathyAbnormality of the cardi HP:0005144 Left ventricular septal hypertrophyAbnormality of the cardi HP:0012382 Left-to-right shuntAbnormality of the cardi HP:0011714 Libman-Sacks lesionsAbnormality of the cardi HP:0009805 Low-output congestive heart failureAbnormality of the cardi HP:0002632 Low-to-normal blood pressureAbnormality of the cardi HP:0012797 Lymphatic vessel neoplasmAbnormality of the cardi HP:0002564 Malformation of the heart and great vesselsAbnormality of the cardi HP:0005174 Membranous subvalvular aortic stenosisAbnormality of the cardi HP:0011934 Mesenteric artery aneurysmAbnormality of the cardi HP:0011599 MesocardiaAbnormality of the cardi HP:0011602 Midline direction of ventricular apexAbnormality of the cardi HP:0012663 Mildly reduced ejection fractionAbnormality of the cardi HP:0011560 Mitral atresiaAbnormality of the cardi HP:0001653 Mitral regurgitationAbnormality of the cardi HP:0001718 Mitral stenosisAbnormality of the cardi HP:0011564 Mitral valve arcadeAbnormality of the cardi HP:0001634 Mitral valve prolapseAbnormality of the cardi HP:0011722 Mixed total anomalous pulmonary venous connAbnormality of the cardi HP:0011707 Mobitz I atrioventricular blockAbnormality of the cardi HP:0011708 Mobitz II atrioventricular blockAbnormality of the cardi HP:0012665 Moderately reduced ejection fractionAbnormality of the cardi HP:0011701 Multifocal atrial tachycardiaAbnormality of the cardi HP:0011625 Multiple muscular ventricular septal defectsAbnormality of the cardi HP:0100573 Muscular cardiac diverticulumAbnormality of the cardi HP:0001691 Muscular subvalvular aortic stenosisAbnormality of the cardi HP:0011623 Muscular ventricular septal defectAbnormality of the cardi HP:0001685 Myocardial fibrosisAbnormality of the cardi HP:0001658 Myocardial infarctionAbnormality of the cardi HP:0001700 Myocardial necrosisAbnormality of the cardi HP:0006693 Myocardial steatosisAbnormality of the cardi HP:0012819 MyocarditisAbnormality of the cardi HP:0004764 Myxomatous mitral valve degeneration

Abnormality of the cardi HP:0010733 Naevus flammeus of the eyelidAbnormality of the cardi HP:0100544 Neoplasm of the heartAbnormality of the cardi HP:0001052 Nevus flammeusAbnormality of the cardi HP:0007616 Nevus flammeus nuchaeAbnormality of the cardi HP:0007413 Nevus flammeus of the foreheadAbnormality of the cardi HP:0004759 Nodular calcific aortic valve diseaseAbnormality of the cardi HP:0005300 Nodular inflammatory vasculitisAbnormality of the cardi HP:0011684 Non-restrictive ventricular septal defectAbnormality of the cardi HP:0012817 Noncompaction cardiomyopathyAbnormality of the cardi HP:0012436 Nonocclusive coronary artery diseaseAbnormality of the cardi HP:0005315 Occlusive arterial diseaseAbnormality of the cardi HP:0005296 Occlusive vascular diseaseAbnormality of the cardi HP:0005152 Oncocytic cardiomyopathyAbnormality of the cardi HP:0012670 Orthostatic syncopeAbnormality of the cardi HP:0002623 Overriding aortaAbnormality of the cardi HP:0011561 Overriding atrioventricular valveAbnormality of the cardi HP:0001962 PalpitationsAbnormality of the cardi HP:0001676 Palpitations (with pheochromocytoma)Abnormality of the cardi HP:0011571 Parachute mitral valveAbnormality of the cardi HP:0004757 Paroxysmal atrial fibrillationAbnormality of the cardi HP:0006671 Paroxysmal atrial tachycardiaAbnormality of the cardi HP:0004763 Paroxysmal supraventricular tachycardiaAbnormality of the cardi HP:0006688 Paroxysmal tachycardiaAbnormality of the cardi HP:0004751 Paroxysmal ventricular tachycardiaAbnormality of the cardi HP:0010773 Partial anomalous pulmonary venous returnAbnormality of the cardi HP:0011577 Partial atrioventricular canal defectAbnormality of the cardi HP:0011635 Partial diaphragmatic absence of pericardiumAbnormality of the cardi HP:0011634 Partial left sided absence of pericardiumAbnormality of the cardi HP:0011632 Partial right sided absence of pericardiumAbnormality of the cardi HP:0001643 Patent ductus arteriosusAbnormality of the cardi HP:0011648 Patent ductus arteriosus after birth at termAbnormality of the cardi HP:0011649 Patent ductus arteriosus after premature birthAbnormality of the cardi HP:0001655 Patent foramen ovaleAbnormality of the cardi HP:0005132 Pericardial constrictionAbnormality of the cardi HP:0001698 Pericardial effusionAbnormality of the cardi HP:0005183 Pericardial lymphangiectasiaAbnormality of the cardi HP:0100004 Pericardial mesotheliomaAbnormality of the cardi HP:0001701 PericarditisAbnormality of the cardi HP:0011682 Perimembranous ventricular septal defectAbnormality of the cardi HP:0004950 Peripheral arterial diseaseAbnormality of the cardi HP:0004928 Peripheral arterial stenosisAbnormality of the cardi HP:0100784 Peripheral arteriovenous fistulaAbnormality of the cardi HP:0004969 Peripheral pulmonary artery stenosisAbnormality of the cardi HP:0005316 Peripheral pulmonary vessel aplasiaAbnormality of the cardi HP:0005309 Peripheral vascular insufficiencyAbnormality of the cardi HP:0004754 Permanent atrial fibrillationAbnormality of the cardi HP:0011690 Permanent junctional reciprocating tachycardiaAbnormality of the cardi HP:0011726 Persistent fetal circulationAbnormality of the cardi HP:0005301 Persistent left superior vena cavaAbnormality of the cardi HP:0012021 Persistent patent ductus venosus

Abnormality of the cardi HP:0006696 Polymorphic and polytopic ventricular extrasystolesAbnormality of the cardi HP:0003574 Positive regitine blocking testAbnormality of the cardi HP:0004761 Post-angioplasty coronary artery restenosisAbnormality of the cardi HP:0011647 Postductal coarctation of the aortaAbnormality of the cardi HP:0004416 Precocious atherosclerosisAbnormality of the cardi HP:0005151 Preductal coarctation of the aortaAbnormality of the cardi HP:0005177 Premature arteriosclerosisAbnormality of the cardi HP:0005181 Premature coronary artery diseaseAbnormality of the cardi HP:0005297 Premature occlusive vascular diseaseAbnormality of the cardi HP:0005299 Premature peripheral vascular diseaseAbnormality of the cardi HP:0001692 Primary atrial arrhythmiaAbnormality of the cardi HP:0010445 Primum atrial septal defectAbnormality of the cardi HP:0012248 Prolonged PR intervalAbnormality of the cardi HP:0006677 Prolonged QRS complexAbnormality of the cardi HP:0001657 Prolonged QT intervalAbnormality of the cardi HP:0005184 Prolonged QTc intervalAbnormality of the cardi HP:0001043 Prominent scalp veinsAbnormality of the cardi HP:0001015 Prominent superficial veinsAbnormality of the cardi HP:0007457 Prominent veins on trunkAbnormality of the cardi HP:0005295 Pseudocoarctation of the aortaAbnormality of the cardi HP:0004964 Pulmonary arterial medial hypertrophyAbnormality of the cardi HP:0004952 Pulmonary arteriovenous fistulasAbnormality of the cardi HP:0006548 Pulmonary arteriovenous malformationAbnormality of the cardi HP:0004937 Pulmonary artery aneurysmAbnormality of the cardi HP:0004935 Pulmonary artery atresiaAbnormality of the cardi HP:0004927 Pulmonary artery dilatationAbnormality of the cardi HP:0004971 Pulmonary artery hypoplasiaAbnormality of the cardi HP:0004961 Pulmonary artery slingAbnormality of the cardi HP:0004415 Pulmonary artery stenosisAbnormality of the cardi HP:0005308 Pulmonary artery vasoconstrictionAbnormality of the cardi HP:0005312 Pulmonary arterial intimal fibrosisAbnormality of the cardi HP:0005954 Pulmonary capillary hemangiomatosisAbnormality of the cardi HP:0002092 Pulmonary hypertensionAbnormality of the cardi HP:0010444 Pulmonary insufficiencyAbnormality of the cardi HP:0012798 Pulmonary lymphangiomyomatosisAbnormality of the cardi HP:0010882 Pulmonary valve atresiaAbnormality of the cardi HP:0005148 Pulmonary valve defectsAbnormality of the cardi HP:0001642 Pulmonic stenosisAbnormality of the cardi HP:0006691 Pulmonic valve myxomaAbnormality of the cardi HP:0200030 Punctate vasculitis skin lesionsAbnormality of the cardi HP:0006535 Recurrent intrapulmonary hemorrhageAbnormality of the cardi HP:0012664 Reduced ejection fractionAbnormality of the cardi HP:0006673 Reduced systolic functionAbnormality of the cardi HP:0012667 Regional left ventricular wall motion abnormalitAbnormality of the cardi HP:0001723 Restrictive cardiomyopathyAbnormality of the cardi HP:0005130 Restrictive heart failureAbnormality of the cardi HP:0011683 Restrictive ventricular septal defectAbnormality of the cardi HP:0001675 Rhythm disturbances associated with pheochromocytomaAbnormality of the cardi HP:0012020 Right aortic archAbnormality of the cardi HP:0011597 Right aortic arch with left descending aorta and left ductus arteriosus

Abnormality of the cardi HP:0002627 Right aortic arch with mirror image branchingAbnormality of the cardi HP:0011594 Right aortic arch with retroesophageal divertiAbnormality of the cardi HP:0011598 Right aortic arch with retroesophageal left subclavian arteryAbnormality of the cardi HP:0011536 Right atrial isomerismAbnormality of the cardi HP:0011712 Right bundle branch blockAbnormality of the cardi HP:0011551 Right sided atrium to left ventricle and absent left sided atrioventricular connectionAbnormality of the cardi HP:0011663 Right ventricular cardiomyopathyAbnormality of the cardi HP:0005133 Right ventricular dilatationAbnormality of the cardi HP:0001708 Right ventricular failureAbnormality of the cardi HP:0001667 Right ventricular hypertrophyAbnormality of the cardi HP:0012816 Right ventricular noncompaction cardiomyopatAbnormality of the cardi HP:0001705 Right ventricular outlet obstructionAbnormality of the cardi HP:0001694 Right-to-left shuntAbnormality of the cardi HP:0011601 Rightward direction of ventricular apexAbnormality of the cardi HP:0012250 ST segment depressionAbnormality of the cardi HP:0012251 ST segment elevationAbnormality of the cardi HP:0012729 Saccular descending thoracic aortic aneurysmAbnormality of the cardi HP:0011626 Scimitar anomalyAbnormality of the cardi HP:0011706 Second degree atrioventricular blockAbnormality of the cardi HP:0001684 Secundum atrial septal defectAbnormality of the cardi HP:0011853 Serous pericardial effusionAbnormality of the cardi HP:0012666 Severely reduced ejection fractionAbnormality of the cardi HP:0011580 Short chordae tendineae of the mitral valveAbnormality of the cardi HP:0006692 Short chordae tendineae of the tricuspid valveAbnormality of the cardi HP:0005165 Shortened PR intervalAbnormality of the cardi HP:0012232 Shortened QT intervalAbnormality of the cardi HP:0011704 Sick sinus syndromeAbnormality of the cardi HP:0011640 Single coronary artery originAbnormality of the cardi HP:0001750 Single ventricleAbnormality of the cardi HP:0011680 Single ventricle of indeterminate morphologyAbnormality of the cardi HP:0012723 Sinoatrial blockAbnormality of the cardi HP:0001688 Sinus bradycardiaAbnormality of the cardi HP:0011645 Sinus of Valsalva aneurysmAbnormality of the cardi HP:0011703 Sinus tachycardiaAbnormality of the cardi HP:0011567 Sinus venosus atrial septal defectAbnormality of the cardi HP:0011944 Small vessel vasculitisAbnormality of the cardi HP:0006702 Spontaneous coronary artery dissectionAbnormality of the cardi HP:0011562 Straddling atrioventricular valveAbnormality of the cardi HP:0001682 Subaortic stenosisAbnormality of the cardi HP:0011681 Subarterial ventricular septal defectAbnormality of the cardi HP:0001645 Sudden cardiac deathAbnormality of the cardi HP:0100859 Superior mesenteric artery aneurysmAbnormality of the cardi HP:0011543 Superior-inferior ventricles without criss-cross atrioventricular valvesAbnormality of the cardi HP:0011719 Supracardiac total anomalous pulmonary venoAbnormality of the cardi HP:0011572 Supramitral ringAbnormality of the cardi HP:0004381 Supravalvular aortic stenosisAbnormality of the cardi HP:0005115 Supraventricular arrhythmiaAbnormality of the cardi HP:0004755 Supraventricular tachycardiaAbnormality of the cardi HP:0011689 Supraventricular tachycardia with a concealed accessory connectionAbnormality of the cardi HP:0011691 Supraventricular tachycardia with a concealed accessory pathway on the left free wall

Abnormality of the cardi HP:0011692 Supraventricular tachycardia with a concealed accessory pathway on the right free wallAbnormality of the cardi HP:0011693 Supraventricular tachycardia with a concealed accessory pathway on the septumAbnormality of the cardi HP:0011694 Supraventricular tachycardia with a manifest accessory pathwayAbnormality of the cardi HP:0011696 Supraventricular tachycardia with a manifest accessory pathway on the left free wallAbnormality of the cardi HP:0011697 Supraventricular tachycardia with a manifest accessory pathway on the right free wallAbnormality of the cardi HP:0011698 Supraventricular tachycardia with a manifest accessory pathway on the septumAbnormality of the cardi HP:0011688 Supraventricular tachycardia with an accessory connection mediated pathwayAbnormality of the cardi HP:0001279 SyncopeAbnormality of the cardi HP:0012266 T-wave alternansAbnormality of the cardi HP:0003140 T-wave inversion in the right precordial leadsAbnormality of the cardi HP:0001649 TachycardiaAbnormality of the cardi HP:0001673 Tachycardia (with pheochromocytoma)Abnormality of the cardi HP:0011665 Takotsubo cardiomyopathyAbnormality of the cardi HP:0001636 Tetralogy of FallotAbnormality of the cardi HP:0011659 Tetralogy of Fallot with absent pulmonary valveAbnormality of the cardi HP:0011676 Tetralogy of Fallot with absent subarterial conusAbnormality of the cardi HP:0011677 Tetralogy of Fallot with atrioventricular canal defectAbnormality of the cardi HP:0012516 Tetralogy of Fallot with pulmonary atresiaAbnormality of the cardi HP:0011678 Tetralogy of Fallot with pulmonary atresia and Abnormality of the cardi HP:0011679 Tetralogy of Fallot with pulmonary stenosisAbnormality of the cardi HP:0001709 Third degree atrioventricular blockAbnormality of the cardi HP:0012727 Thoracic aortic aneurysmAbnormality of the cardi HP:0011585 Thoracic ectopia cordisAbnormality of the cardi HP:0011586 Thoracoabdominal ectopia cordisAbnormality of the cardi HP:0011584 Thoracocervical ectopia cordisAbnormality of the cardi HP:0001664 Torsade de pointesAbnormality of the cardi HP:0011629 Total absence of the pericardiumAbnormality of the cardi HP:0005160 Total anomalous pulmonary venous returnAbnormality of the cardi HP:0011578 Transitional atrioventricular canal defectAbnormality of the cardi HP:0001669 Transposition of the great arteriesAbnormality of the cardi HP:0011606 Transposition of the great arteries with intact ventricular septumAbnormality of the cardi HP:0011607 Transposition of the great arteries with ventricular septal defectAbnormality of the cardi HP:0011662 Tricuspid atresiaAbnormality of the cardi HP:0005180 Tricuspid regurgitationAbnormality of the cardi HP:0010446 Tricuspid stenosisAbnormality of the cardi HP:0001704 Tricuspid valve prolapseAbnormality of the cardi HP:0011715 Trifascicular blockAbnormality of the cardi HP:0001660 Truncus arteriosusAbnormality of the cardi HP:0012329 Tufted angiomaAbnormality of the cardi HP:0004384 Type I truncus arteriosusAbnormality of the cardi HP:0011608 Type II truncus arteriosusAbnormality of the cardi HP:0011609 Type III truncus arteriosusAbnormality of the cardi HP:0011610 Type IV truncus arteriosusAbnormality of the cardi HP:0011724 Uhl's anomalyAbnormality of the cardi HP:0011579 Unbalanced atrioventricular canal defectAbnormality of the cardi HP:0012561 Unicuspid aortic valveAbnormality of the cardi HP:0011549 Univentricular heart with absent left sided atrioventricular connectionAbnormality of the cardi HP:0002619 Varicose veinsAbnormality of the cardi HP:0100742 Vascular neoplasmAbnormality of the cardi HP:0010775 Vascular ring

Abnormality of the cardi HP:0004948 Vascular tortuosityAbnormality of the cardi HP:0002633 VasculitisAbnormality of the cardi HP:0200029 Vasculitis in the skinAbnormality of the cardi HP:0012668 Vasovagal syncopeAbnormality of the cardi HP:0002624 Venous abnormalityAbnormality of the cardi HP:0005293 Venous insufficiencyAbnormality of the cardi HP:0012721 Venous malformationAbnormality of the cardi HP:0002626 Venous varicosities of celiac and mesenteric vAbnormality of the cardi HP:0006698 Ventricular aneurysmAbnormality of the cardi HP:0004308 Ventricular arrhythmiaAbnormality of the cardi HP:0005155 Ventricular escape rhythmsAbnormality of the cardi HP:0006682 Ventricular extrasystolesAbnormality of the cardi HP:0001663 Ventricular fibrillationAbnormality of the cardi HP:0011841 Ventricular flutterAbnormality of the cardi HP:0001714 Ventricular hypertrophyAbnormality of the cardi HP:0004309 Ventricular preexcitationAbnormality of the cardi HP:0006684 Ventricular preexcitation with multiple accessoAbnormality of the cardi HP:0001629 Ventricular septal defectAbnormality of the cardi HP:0004756 Ventricular tachycardiaAbnormality of the cardi HP:0100761 Visceral angiomatosisAbnormality of the cardi HP:0001716 Wolff-Parkinson-White syndrome

Abnormality of the nervous systemAbnormality of the nerv HP:0012651 AbasiaAbnormality of the nerv HP:0011349 Abducens palsyAbnormality of the nerv HP:0011400 Abnormal CNS myelinationAbnormality of the nerv HP:0012654 Abnormal CSF dopamine levelAbnormality of the nerv HP:0006919 Abnormal aggressive, impulsive or violent behaviorAbnormality of the nerv HP:0006958 Abnormal auditory evoked potentialsAbnormality of the nerv HP:0012331 Abnormal autonomic nervous system morpholoAbnormality of the nerv HP:0012332 Abnormal autonomic nervous system physiologAbnormality of the nerv HP:0012751 Abnormal basal ganglia MRI signal intensityAbnormality of the nerv HP:0012658 Abnormal brain FDG positron emission tomogrAbnormality of the nerv HP:0012709 Abnormal brain choline/creatine ratio by MRSAbnormality of the nerv HP:0012657 Abnormal brain positron emission tomographyAbnormality of the nerv HP:0012747 Abnormal brainstem MRI signal intensityAbnormality of the nerv HP:0005788 Abnormal cervical myelogramAbnormality of the nerv HP:0002536 Abnormal cortical gyrationAbnormality of the nerv HP:0100738 Abnormal eating behaviorAbnormality of the nerv HP:0100851 Abnormal emotion/affect behaviorAbnormality of the nerv HP:0100852 Abnormal fear/anxiety-related behaviorAbnormality of the nerv HP:0002457 Abnormal head movementsAbnormality of the nerv HP:0012286 Abnormal hypothalamus morphologyAbnormality of the nerv HP:0012285 Abnormal hypothalamus physiologyAbnormality of the nerv HP:0200011 Abnormal length of corpus callosumAbnormality of the nerv HP:0012898 Abnormal lower-limb motor evoked potentialsAbnormality of the nerv HP:0012705 Abnormal metabolic brain imaging by MRSAbnormality of the nerv HP:0012896 Abnormal motor evoked potentialsAbnormality of the nerv HP:0012447 Abnormal myelinationAbnormality of the nerv HP:0001311 Abnormal nervous system electrophysiologyAbnormality of the nerv HP:0012757 Abnormal neuron morphology

Abnormality of the nerv HP:0003130 Abnormal peripheral myelinationAbnormality of the nerv HP:0002533 Abnormal posturingAbnormality of the nerv HP:0002494 Abnormal rapid eye movement (REM) sleepAbnormality of the nerv HP:0012433 Abnormal social behaviorAbnormality of the nerv HP:0012333 Abnormal sudomotor regulationAbnormality of the nerv HP:0012535 Abnormal synaptic transmissionAbnormality of the nerv HP:0012696 Abnormal thalamic MRI signal intensityAbnormality of the nerv HP:0012693 Abnormal thalamic sizeAbnormality of the nerv HP:0012897 Abnormal upper-limb motor evoked potentialsAbnormality of the nerv HP:0012443 Abnormality of brain morphologyAbnormality of the nerv HP:0002363 Abnormality of brainstem morphologyAbnormality of the nerv HP:0012079 Abnormality of central motor conductionAbnormality of the nerv HP:0011442 Abnormality of central motor functionAbnormality of the nerv HP:0011730 Abnormality of central sensory functionAbnormality of the nerv HP:0100291 Abnormality of central somatosensory evoked potentialsAbnormality of the nerv HP:0009145 Abnormality of cerebral arteryAbnormality of the nerv HP:0012480 Abnormality of cerebral veinsAbnormality of the nerv HP:0012518 Abnormality of circle of WillisAbnormality of the nerv HP:0011443 Abnormality of coordinationAbnormality of the nerv HP:0002071 Abnormality of extrapyramidal motor functionAbnormality of the nerv HP:0100547 Abnormality of forebrain morphologyAbnormality of the nerv HP:0011446 Abnormality of higher mental functionAbnormality of the nerv HP:0011282 Abnormality of hindbrain morphologyAbnormality of the nerv HP:0012640 Abnormality of intracranial pressureAbnormality of the nerv HP:0002418 Abnormality of midbrain morphologyAbnormality of the nerv HP:0100022 Abnormality of movementAbnormality of the nerv HP:0012639 Abnormality of nervous system morphologyAbnormality of the nerv HP:0012638 Abnormality of nervous system physiologyAbnormality of the nerv HP:0002269 Abnormality of neuronal migrationAbnormality of the nerv HP:0010832 Abnormality of pain sensationAbnormality of the nerv HP:0003134 Abnormality of peripheral nerve conductionAbnormality of the nerv HP:0100290 Abnormality of peripheral somatosensory evoked potentialsAbnormality of the nerv HP:0007256 Abnormality of pyramidal motor functionAbnormality of the nerv HP:0007377 Abnormality of somatosensory evoked potentiaAbnormality of the nerv HP:0010663 Abnormality of thalamus morphologyAbnormality of the nerv HP:0006802 Abnormality of the anterior horn cellAbnormality of the nerv HP:0100700 Abnormality of the arachnoid materAbnormality of the nerv HP:0100707 Abnormality of the astrocytesAbnormality of the nerv HP:0002270 Abnormality of the autonomic nervous systemAbnormality of the nerv HP:0002134 Abnormality of the basal gangliaAbnormality of the nerv HP:0012501 Abnormality of the brainstem white matterAbnormality of the nerv HP:0002339 Abnormality of the caudate nucleusAbnormality of the nerv HP:0011931 Abnormality of the cerebellar peduncleAbnormality of the nerv HP:0002334 Abnormality of the cerebellar vermisAbnormality of the nerv HP:0001317 Abnormality of the cerebellumAbnormality of the nerv HP:0002538 Abnormality of the cerebral cortexAbnormality of the nerv HP:0010993 Abnormality of the cerebral subcortexAbnormality of the nerv HP:0100659 Abnormality of the cerebral vasculatureAbnormality of the nerv HP:0002118 Abnormality of the cerebral ventriclesAbnormality of the nerv HP:0002500 Abnormality of the cerebral white matter

Abnormality of the nerv HP:0002921 Abnormality of the cerebrospinal fluidAbnormality of the nerv HP:0002060 Abnormality of the cerebrumAbnormality of the nerv HP:0007376 Abnormality of the choroid plexusAbnormality of the nerv HP:0001273 Abnormality of the corpus callosumAbnormality of the nerv HP:0002492 Abnormality of the corticospinal tractAbnormality of the nerv HP:0001291 Abnormality of the cranial nervesAbnormality of the nerv HP:0100321 Abnormality of the dentate nucleusAbnormality of the nerv HP:0010662 Abnormality of the diencephalonAbnormality of the nerv HP:0011397 Abnormality of the dorsal column of the spinal Abnormality of the nerv HP:0010652 Abnormality of the dura materAbnormality of the nerv HP:0010825 Abnormality of the eleventh cranial nerveAbnormality of the nerv HP:0004362 Abnormality of the enteric gangliaAbnormality of the nerv HP:0010653 Abnormality of the falx cerebriAbnormality of the nerv HP:0010824 Abnormality of the fifth cranial nerveAbnormality of the nerv HP:0010950 Abnormality of the fourth ventricleAbnormality of the nerv HP:0100705 Abnormality of the glial cellsAbnormality of the nerv HP:0002453 Abnormality of the globus pallidusAbnormality of the nerv HP:0012502 Abnormality of the internal capsuleAbnormality of the nerv HP:0002366 Abnormality of the lower motor neuronAbnormality of the nerv HP:0011441 Abnormality of the medulla oblongataAbnormality of the nerv HP:0010651 Abnormality of the meningesAbnormality of the nerv HP:0011283 Abnormality of the metencephalonAbnormality of the nerv HP:0100708 Abnormality of the microgliaAbnormality of the nerv HP:0002450 Abnormality of the motor neuronsAbnormality of the nerv HP:0000707 Abnormality of the nervous systemAbnormality of the nerv HP:0003398 Abnormality of the neuromuscular junctionAbnormality of the nerv HP:0100706 Abnormality of the oligodendrogliaAbnormality of the nerv HP:0000759 Abnormality of the peripheral nervous systemAbnormality of the nerv HP:0002518 Abnormality of the periventricular white matterAbnormality of the nerv HP:0100701 Abnormality of the pia materAbnormality of the nerv HP:0007361 Abnormality of the ponsAbnormality of the nerv HP:0007375 Abnormality of the septum pellucidumAbnormality of the nerv HP:0010827 Abnormality of the seventh cranial nerveAbnormality of the nerv HP:0011348 Abnormality of the sixth cranial nerveAbnormality of the nerv HP:0002143 Abnormality of the spinal cordAbnormality of the nerv HP:0009744 Abnormality of the spinal dura materAbnormality of the nerv HP:0010303 Abnormality of the spinal meningesAbnormality of the nerv HP:0003133 Abnormality of the spinocerebellar tractsAbnormality of the nerv HP:0010994 Abnormality of the striatumAbnormality of the nerv HP:0012703 Abnormality of the subarachnoid spaceAbnormality of the nerv HP:0011932 Abnormality of the superior cerebellar peduncleAbnormality of the nerv HP:0010951 Abnormality of the third ventricleAbnormality of the nerv HP:0010826 Abnormality of the twelfth cranial nerveAbnormality of the nerv HP:0009591 Abnormality of the vestibulocochlear nerveAbnormality of the nerv HP:0006944 Abolished vibration senseAbnormality of the nerv HP:0010661 Absence of the third cerebral ventricleAbnormality of the nerv HP:0002121 Absence seizuresAbnormality of the nerv HP:0011149 Absence seizures with eyelid myocloniaAbnormality of the nerv HP:0011148 Absence seizures with special featuresAbnormality of the nerv HP:0003438 Absent Achilles reflex

Abnormality of the nerv HP:0004463 Absent brainstem auditory responsesAbnormality of the nerv HP:0007265 Absent mesencephalonAbnormality of the nerv HP:0006844 Absent patellar reflexesAbnormality of the nerv HP:0001331 Absent septum pellucidumAbnormality of the nerv HP:0001344 Absent speechAbnormality of the nerv HP:0012671 AbuliaAbnormality of the nerv HP:0002345 Action tremorAbnormality of the nerv HP:0007131 Acute demyelinating polyneuropathyAbnormality of the nerv HP:0006846 Acute encephalopathyAbnormality of the nerv HP:0003489 Acute episodes of neuropathic symptomsAbnormality of the nerv HP:0006965 Acute necrotizing encephalopathyAbnormality of the nerv HP:0006748 Adrenal pheochromocytomaAbnormality of the nerv HP:0012003 Affective aurasAbnormality of the nerv HP:0002251 Aganglionic megacolonAbnormality of the nerv HP:0011464 Aganglionosis of the small intestineAbnormality of the nerv HP:0002335 Agenesis of cerebellar vermisAbnormality of the nerv HP:0001274 Agenesis of corpus callosumAbnormality of the nerv HP:0000718 Aggressive behaviorAbnormality of the nerv HP:0000713 AgitationAbnormality of the nerv HP:0010524 AgnosiaAbnormality of the nerv HP:0000756 AgoraphobiaAbnormality of the nerv HP:0011812 AgraphesthesiaAbnormality of the nerv HP:0100317 Agyrophilic inclusion bodiesAbnormality of the nerv HP:0002304 AkinesiaAbnormality of the nerv HP:0012672 Akinetic mutismAbnormality of the nerv HP:0010523 AlexiaAbnormality of the nerv HP:0012533 AllodyniaAbnormality of the nerv HP:0006988 Alobar holoprosencephalyAbnormality of the nerv HP:0011178 Alpha-EEGAbnormality of the nerv HP:0002511 Alzheimer diseaseAbnormality of the nerv HP:0100566 AmyeliaAbnormality of the nerv HP:0100292 Amyloidosis of peripheral nervesAbnormality of the nerv HP:0007354 Amyotrophic lateral sclerosisAbnormality of the nerv HP:0002425 AnarthriaAbnormality of the nerv HP:0002323 AnencephalyAbnormality of the nerv HP:0012154 AnhedoniaAbnormality of the nerv HP:0011448 Ankle clonusAbnormality of the nerv HP:0007023 Antenatal intracerebral hemorrhageAbnormality of the nerv HP:0012494 Anterior cerebral artery stenosisAbnormality of the nerv HP:0000739 AnxietyAbnormality of the nerv HP:0000740 Anxiety (with pheochromocytoma)Abnormality of the nerv HP:0000741 ApathyAbnormality of the nerv HP:0002381 AphasiaAbnormality of the nerv HP:0010654 Aplasia of the falx cerebriAbnormality of the nerv HP:0007063 Aplasia of the inferior half of the cerebellar vermisAbnormality of the nerv HP:0010999 Aplasia of the optic tractAbnormality of the nerv HP:0100322 Aplasia of the pyramidal tractAbnormality of the nerv HP:0002977 Aplasia/Hypoplasia involving the central nervoAbnormality of the nerv HP:0007365 Aplasia/Hypoplasia involving the corticospinal tractsAbnormality of the nerv HP:0006817 Aplasia/Hypoplasia of the cerebellar vermis

Abnormality of the nerv HP:0007362 Aplasia/Hypoplasia of the brainstemAbnormality of the nerv HP:0007360 Aplasia/Hypoplasia of the cerebellumAbnormality of the nerv HP:0012429 Aplasia/Hypoplasia of the cerebral white matterAbnormality of the nerv HP:0007364 Aplasia/Hypoplasia of the cerebrumAbnormality of the nerv HP:0007370 Aplasia/Hypoplasia of the corpus callosumAbnormality of the nerv HP:0011000 Aplasia/Hypoplasia of the optic tractAbnormality of the nerv HP:0007363 Aplasia/Hypoplasia of the pyramidal tractAbnormality of the nerv HP:0002186 ApraxiaAbnormality of the nerv HP:0007268 AprosencephalyAbnormality of the nerv HP:0002410 Aqueductal stenosisAbnormality of the nerv HP:0100702 Arachnoid cystAbnormality of the nerv HP:0001284 AreflexiaAbnormality of the nerv HP:0002522 Areflexia of lower limbsAbnormality of the nerv HP:0012046 Areflexia of upper limbsAbnormality of the nerv HP:0002308 Arnold-Chiari malformationAbnormality of the nerv HP:0007099 Arnold-Chiari type I malformationAbnormality of the nerv HP:0002139 ArrhinencephalyAbnormality of the nerv HP:0004931 Arteriosclerosis of small cerebral arteriesAbnormality of the nerv HP:0010527 AstereognosiaAbnormality of the nerv HP:0012164 AsterixisAbnormality of the nerv HP:0009592 AstrocytomaAbnormality of the nerv HP:0002446 AstrocytosisAbnormality of the nerv HP:0100960 Asymmetric ventriclesAbnormality of the nerv HP:0010869 AsynergiaAbnormality of the nerv HP:0001251 AtaxiaAbnormality of the nerv HP:0011445 Athetoid cerebral palsyAbnormality of the nerv HP:0002305 AthetosisAbnormality of the nerv HP:0010819 Atonic seizuresAbnormality of the nerv HP:0007047 Atrophy of the dentate nucleusAbnormality of the nerv HP:0006827 Atrophy of the spinal cordAbnormality of the nerv HP:0007366 Atrophy/Degeneration affecting the brainstemAbnormality of the nerv HP:0007367 Atrophy/Degeneration affecting the central nervous systemAbnormality of the nerv HP:0007369 Atrophy/Degeneration affecting the cerebrumAbnormality of the nerv HP:0007373 Atrophy/Degeneration involving motor neuronsAbnormality of the nerv HP:0007374 Atrophy/Degeneration involving the caudate nucleusAbnormality of the nerv HP:0007372 Atrophy/Degeneration involving the corticospinal tractsAbnormality of the nerv HP:0007344 Atrophy/Degeneration involving the spinal cordAbnormality of the nerv HP:0007018 Attention deficit hyperactivity disorderAbnormality of the nerv HP:0007270 Atypical absence seizuresAbnormality of the nerv HP:0007524 Atypical neurofibromatosisAbnormality of the nerv HP:0011158 Auditory aurasAbnormality of the nerv HP:0008765 Auditory hallucinationsAbnormality of the nerv HP:0011157 AurasAbnormality of the nerv HP:0000717 AutismAbnormality of the nerv HP:0000753 Autism with high cognitive abilitiesAbnormality of the nerv HP:0000729 Autistic behaviorAbnormality of the nerv HP:0005341 Autonomic bladder dysfunctionAbnormality of the nerv HP:0002271 Autonomic dysregulationAbnormality of the nerv HP:0008652 Autonomic erectile dysfunctionAbnormality of the nerv HP:0002530 Axial dystonia

Abnormality of the nerv HP:0003378 Axonal degeneration/regenerationAbnormality of the nerv HP:0003447 Axonal lossAbnormality of the nerv HP:0003450 Axonal regenerationAbnormality of the nerv HP:0003487 Babinski signAbnormality of the nerv HP:0002135 Basal ganglia calcificationAbnormality of the nerv HP:0006799 Basal ganglia cystsAbnormality of the nerv HP:0006999 Basal ganglia gliosisAbnormality of the nerv HP:0012128 Basal ganglia necrosisAbnormality of the nerv HP:0003400 Basal lamina 'onion bulb' formationAbnormality of the nerv HP:0000708 Behavioral abnormalityAbnormality of the nerv HP:0100835 Benign neoplasm of the central nervous systemAbnormality of the nerv HP:0011179 Beta-EEGAbnormality of the nerv HP:0007146 Bilateral basal ganglia lesionsAbnormality of the nerv HP:0007334 Bilateral convulsive seizuresAbnormality of the nerv HP:0005671 Bilateral intracranial calcificationsAbnormality of the nerv HP:0011189 Bilateral multifocal epileptiform dischargesAbnormality of the nerv HP:0009589 Bilateral vestibular SchwannomaAbnormality of the nerv HP:0001335 Bimanual synkinesiaAbnormality of the nerv HP:0007302 Bipolar affective disorderAbnormality of the nerv HP:0012076 Borderline personality disorderAbnormality of the nerv HP:0002067 BradykinesiaAbnormality of the nerv HP:0012444 Brain atrophyAbnormality of the nerv HP:0002512 Brain stem compressionAbnormality of the nerv HP:0001322 Brain very smallAbnormality of the nerv HP:0002508 Brainstem dysplasiaAbnormality of the nerv HP:0010796 Brainstem gliomaAbnormality of the nerv HP:0001348 Brisk reflexesAbnormality of the nerv HP:0002136 Broad-based gaitAbnormality of the nerv HP:0003763 BruxismAbnormality of the nerv HP:0001283 Bulbar palsyAbnormality of the nerv HP:0002483 Bulbar signsAbnormality of the nerv HP:0100739 BulimiaAbnormality of the nerv HP:0007305 CNS demyelinationAbnormality of the nerv HP:0012754 CNS hypermyelinationAbnormality of the nerv HP:0003429 CNS hypomyelinationAbnormality of the nerv HP:0011450 CNS infectionAbnormality of the nerv HP:0200149 CSF lymphocytic pleiocytosisAbnormality of the nerv HP:0012229 CSF pleocytosisAbnormality of the nerv HP:0012756 CSF polymorphonuclear pleocytosisAbnormality of the nerv HP:0005462 Calcification of falx cerebriAbnormality of the nerv HP:0002504 Calcification of the small brain vesselsAbnormality of the nerv HP:0100635 Carotid paragangliomaAbnormality of the nerv HP:0002524 CataplexyAbnormality of the nerv HP:0002340 Caudate atrophyAbnormality of the nerv HP:0007007 Cavitation of the basal gangliaAbnormality of the nerv HP:0002389 Cavum septum pellucidumAbnormality of the nerv HP:0011398 Central hypotoniaAbnormality of the nerv HP:0007009 Central nervous system degenerationAbnormality of the nerv HP:0010536 Central sleep apneaAbnormality of the nerv HP:0012082 Cerebellar Purkinje layer atrophy

Abnormality of the nerv HP:0012642 Cerebellar agenesisAbnormality of the nerv HP:0009878 Cerebellar ataxia associated with quadrupedal Abnormality of the nerv HP:0001272 Cerebellar atrophyAbnormality of the nerv HP:0007352 Cerebellar calcificationsAbnormality of the nerv HP:0008278 Cerebellar cortical atrophyAbnormality of the nerv HP:0002350 Cerebellar cystAbnormality of the nerv HP:0007033 Cerebellar dysplasiaAbnormality of the nerv HP:0010795 Cerebellar gliomaAbnormality of the nerv HP:0012698 Cerebellar gliosisAbnormality of the nerv HP:0012080 Cerebellar granular layer atrophyAbnormality of the nerv HP:0006880 Cerebellar hemangioblastomaAbnormality of the nerv HP:0100307 Cerebellar hemisphere hypoplasiaAbnormality of the nerv HP:0011695 Cerebellar hemorrhageAbnormality of the nerv HP:0001321 Cerebellar hypoplasiaAbnormality of the nerv HP:0002438 Cerebellar malformationAbnormality of the nerv HP:0007129 Cerebellar medulloblastomaAbnormality of the nerv HP:0006855 Cerebellar vermis atrophyAbnormality of the nerv HP:0001320 Cerebellar vermis hypoplasiaAbnormality of the nerv HP:0012487 Cerebellopontine angle arachnoid cystAbnormality of the nerv HP:0004944 Cerebral aneurysmAbnormality of the nerv HP:0002408 Cerebral arteriovenous malformationAbnormality of the nerv HP:0007201 Cerebral artery atherosclerosisAbnormality of the nerv HP:0012492 Cerebral artery stenosisAbnormality of the nerv HP:0002059 Cerebral atrophyAbnormality of the nerv HP:0007029 Cerebral berry aneurysmAbnormality of the nerv HP:0002514 Cerebral calcificationAbnormality of the nerv HP:0006790 Cerebral cortex with spongiform changesAbnormality of the nerv HP:0002120 Cerebral cortical atrophyAbnormality of the nerv HP:0100308 Cerebral cortical hemiatrophyAbnormality of the nerv HP:0006964 Cerebral cortical neurodegenerationAbnormality of the nerv HP:0007313 Cerebral degenerationAbnormality of the nerv HP:0007266 Cerebral dysmyelinationAbnormality of the nerv HP:0002181 Cerebral edemaAbnormality of the nerv HP:0100313 Cerebral granulomatosisAbnormality of the nerv HP:0009731 Cerebral hamartomataAbnormality of the nerv HP:0001342 Cerebral hemorrhageAbnormality of the nerv HP:0100319 Cerebral hyaline bodiesAbnormality of the nerv HP:0006808 Cerebral hypomyelinationAbnormality of the nerv HP:0006872 Cerebral hypoplasiaAbnormality of the nerv HP:0100314 Cerebral inclusion bodiesAbnormality of the nerv HP:0002637 Cerebral ischemiaAbnormality of the nerv HP:0100021 Cerebral palsyAbnormality of the nerv HP:0005318 Cerebral vasculitisAbnormality of the nerv HP:0012481 Cerebral venous angiomaAbnormality of the nerv HP:0100311 Cerebral ventricular adhesionsAbnormality of the nerv HP:0200017 Cerebral white matter agenesisAbnormality of the nerv HP:0012762 Cerebral white matter atrophyAbnormality of the nerv HP:0012430 Cerebral white matter hypoplasiaAbnormality of the nerv HP:0002341 Cervical cord compressionAbnormality of the nerv HP:0002318 Cervical myelopathy

Abnormality of the nerv HP:0005857 Cervical spina bifidaAbnormality of the nerv HP:0010873 Cervical spinal cord atrophyAbnormality of the nerv HP:0010875 Chaddock reflexAbnormality of the nerv HP:0005216 Chewing difficultiesAbnormality of the nerv HP:0012462 Chin myoclonusAbnormality of the nerv HP:0002072 ChoreaAbnormality of the nerv HP:0001266 ChoreoathetosisAbnormality of the nerv HP:0006960 Choroid plexus calcificationAbnormality of the nerv HP:0002190 Choroid plexus cystAbnormality of the nerv HP:0200022 Choroid plexus papillomaAbnormality of the nerv HP:0009704 Chronic CSF lymphocytosisAbnormality of the nerv HP:0007267 Chronic axonal neuropathyAbnormality of the nerv HP:0012432 Chronic fatigueAbnormality of the nerv HP:0007111 Chronic hepatic encephalopathyAbnormality of the nerv HP:0007041 Chronic lymphocytic meningitisAbnormality of the nerv HP:0012532 Chronic painAbnormality of the nerv HP:0001301 Chronic sensorineural polyneuropathyAbnormality of the nerv HP:0002169 ClonusAbnormality of the nerv HP:0002312 ClumsinessAbnormality of the nerv HP:0012199 Cluster headacheAbnormality of the nerv HP:0007233 Clusters of axonal regenerationAbnormality of the nerv HP:0100543 Cognitive impairmentAbnormality of the nerv HP:0002396 Cogwheel rigidityAbnormality of the nerv HP:0001259 ComaAbnormality of the nerv HP:0001334 Communicating hydrocephalusAbnormality of the nerv HP:0011172 Complex febrile seizuresAbnormality of the nerv HP:0001289 ConfusionAbnormality of the nerv HP:0007239 Congenital encephalopathyAbnormality of the nerv HP:0006906 Congenital intracerebral calcificationAbnormality of the nerv HP:0006742 Congenital neuroblastomaAbnormality of the nerv HP:0006903 Congenital peripheral neuropathyAbnormality of the nerv HP:0100024 Conspicuously happy dispositionAbnormality of the nerv HP:0012185 Constrictive median neuropathyAbnormality of the nerv HP:0012676 Copper accumulation in brainAbnormality of the nerv HP:0007371 Corpus callosum atrophyAbnormality of the nerv HP:0002539 Cortical dysplasiaAbnormality of the nerv HP:0009879 Cortical gyral simplificationAbnormality of the nerv HP:0009717 Cortical tubersAbnormality of the nerv HP:0007117 Corticospinal tract atrophyAbnormality of the nerv HP:0007163 Corticospinal tract disease in lower limbsAbnormality of the nerv HP:0002493 Corticospinal tract dysfunctionAbnormality of the nerv HP:0007016 Corticospinal tract hypoplasiaAbnormality of the nerv HP:0008361 Corticospinal tract pallorAbnormality of the nerv HP:0006897 Cranial nerve VI palsyAbnormality of the nerv HP:0001293 Cranial nerve compressionAbnormality of the nerv HP:0007097 Cranial nerve motor lossAbnormality of the nerv HP:0006824 Cranial nerve paralysisAbnormality of the nerv HP:0012179 Craniofacial dystoniaAbnormality of the nerv HP:0007082 DIlated third ventricleAbnormality of the nerv HP:0010820 Dacrystic seizures

Abnormality of the nerv HP:0011444 Decorticate rigidityAbnormality of the nerv HP:0009072 Decreased Achilles reflexAbnormality of the nerv HP:0003785 Decreased CSF homovanillic acid (HVA)Abnormality of the nerv HP:0007078 Decreased amplitude of sensory action potentiaAbnormality of the nerv HP:0007230 Decreased distal sensory nerve action potentiaAbnormality of the nerv HP:0012641 Decreased intracranial pressureAbnormality of the nerv HP:0003402 Decreased miniature endplate potentialsAbnormality of the nerv HP:0003431 Decreased motor nerve conduction velocityAbnormality of the nerv HP:0000762 Decreased nerve conduction velocityAbnormality of the nerv HP:0003387 Decreased number of large peripheral myelinatAbnormality of the nerv HP:0003380 Decreased number of peripheral myelinated nerAbnormality of the nerv HP:0007249 Decreased number of small peripheral myelinated nerve fibersAbnormality of the nerv HP:0011808 Decreased patellar reflexAbnormality of the nerv HP:0003448 Decreased sensory nerve conduction velocityAbnormality of the nerv HP:0003443 Decreased size of nerve terminalsAbnormality of the nerv HP:0012695 Decreased thalamic volumeAbnormality of the nerv HP:0200101 Decreased/absent ankle reflexesAbnormality of the nerv HP:0007321 Deep white matter hypodensitiesAbnormality of the nerv HP:0002526 Deficit in nonword repetitionAbnormality of the nerv HP:0002549 Deficit in phonologic short-term memoryAbnormality of the nerv HP:0002398 Degeneration of anterior horn cellsAbnormality of the nerv HP:0002314 Degeneration of the lateral corticospinal tractsAbnormality of the nerv HP:0012005 Deja vuAbnormality of the nerv HP:0002188 Delayed CNS myelinationAbnormality of the nerv HP:0010862 Delayed fine motor developmentAbnormality of the nerv HP:0002194 Delayed gross motor developmentAbnormality of the nerv HP:0012448 Delayed myelinationAbnormality of the nerv HP:0011401 Delayed peripheral myelinationAbnormality of the nerv HP:0012434 Delayed social developmentAbnormality of the nerv HP:0000750 Delayed speech and language developmentAbnormality of the nerv HP:0000746 DelusionsAbnormality of the nerv HP:0000726 DementiaAbnormality of the nerv HP:0007220 Demyelinating motor neuropathyAbnormality of the nerv HP:0007108 Demyelinating peripheral neuropathyAbnormality of the nerv HP:0011402 Demyelinating sensory neuropathyAbnormality of the nerv HP:0002461 Dense calcifications in the cerebellar dentate nucleusAbnormality of the nerv HP:0000716 DepressionAbnormality of the nerv HP:0002376 Developmental regressionAbnormality of the nerv HP:0007281 Developmental stagnationAbnormality of the nerv HP:0006834 Developmental stagnation at onset of seizuresAbnormality of the nerv HP:0011146 Dialeptic seizuresAbnormality of the nerv HP:0100563 DiastomatomyeliaAbnormality of the nerv HP:0002355 Difficulty walkingAbnormality of the nerv HP:0003405 Diffuse axonal swellingAbnormality of the nerv HP:0100275 Diffuse cerebellar atrophyAbnormality of the nerv HP:0002506 Diffuse cerebral atrophyAbnormality of the nerv HP:0005849 Diffuse cerebral calcificationAbnormality of the nerv HP:0006918 Diffuse cerebral sclerosisAbnormality of the nerv HP:0007162 Diffuse demyelination of the cerebral white matAbnormality of the nerv HP:0006994 Diffuse leukoencephalopathy

Abnormality of the nerv HP:0006881 Diffuse peripheral demyelinationAbnormality of the nerv HP:0006943 Diffuse spongiform leukoencephalopathyAbnormality of the nerv HP:0007341 Diffuse swelling of cerebral white matterAbnormality of the nerv HP:0007204 Diffuse white matter abnormalitiesAbnormality of the nerv HP:0002198 Dilated fourth ventricleAbnormality of the nerv HP:0006956 Dilation of lateral ventriclesAbnormality of the nerv HP:0000745 Diminished motivationAbnormality of the nerv HP:0002374 Diminished movementAbnormality of the nerv HP:0100562 DiplomyeliaAbnormality of the nerv HP:0000734 DisinhibitionAbnormality of the nerv HP:0007065 Disorganization of the anterior cerebellar vermisAbnormality of the nerv HP:0010835 Dissociated sensory lossAbnormality of the nerv HP:0007067 Distal peripheral sensory neuropathyAbnormality of the nerv HP:0002936 Distal sensory impairmentAbnormality of the nerv HP:0003409 Distal sensory impairment of all modalitiesAbnormality of the nerv HP:0006984 Distal sensory loss of all modalitiesAbnormality of the nerv HP:0007006 Dorsal column degenerationAbnormality of the nerv HP:0002329 DrowsinessAbnormality of the nerv HP:0011465 Duodenal aganglionosisAbnormality of the nerv HP:0100775 Dural ectasiaAbnormality of the nerv HP:0001260 DysarthriaAbnormality of the nerv HP:0002459 DysautonomiaAbnormality of the nerv HP:0002442 DyscalculiaAbnormality of the nerv HP:0002075 DysdiadochokinesisAbnormality of the nerv HP:0012534 DysesthesiaAbnormality of the nerv HP:0007299 Dysfunction of lateral corticospinal tractsAbnormality of the nerv HP:0002195 Dysgenesis of the cerebellar vermisAbnormality of the nerv HP:0010526 DysgraphiaAbnormality of the nerv HP:0100660 DyskinesiaAbnormality of the nerv HP:0010522 DyslexiaAbnormality of the nerv HP:0001310 DysmetriaAbnormality of the nerv HP:0012460 Dysmorphic inferior cerebellar vermisAbnormality of the nerv HP:0006978 Dysmyelinating leukodystrophyAbnormality of the nerv HP:0002015 DysphagiaAbnormality of the nerv HP:0002357 DysphasiaAbnormality of the nerv HP:0001618 DysphoniaAbnormality of the nerv HP:0006989 Dysplastic corpus callosumAbnormality of the nerv HP:0010867 DyssynergiaAbnormality of the nerv HP:0001332 DystoniaAbnormality of the nerv HP:0002353 EEG abnormalityAbnormality of the nerv HP:0011177 EEG with 4-5/second background activityAbnormality of the nerv HP:0011203 EEG with abnormally slow frequenciesAbnormality of the nerv HP:0010851 EEG with burst suppressionAbnormality of the nerv HP:0012009 EEG with central focal spike wavesAbnormality of the nerv HP:0012014 EEG with central focal spikesAbnormality of the nerv HP:0011291 EEG with central sharp slow wavesAbnormality of the nerv HP:0011293 EEG with central sharp wavesAbnormality of the nerv HP:0012557 EEG with centrotemporal focal spike wavesAbnormality of the nerv HP:0011201 EEG with changes in voltageAbnormality of the nerv HP:0011176 EEG with constitutional variants

Abnormality of the nerv HP:0011204 EEG with continuous slow activityAbnormality of the nerv HP:0011202 EEG with diffuse accelerationAbnormality of the nerv HP:0011185 EEG with focal epileptiform dischargesAbnormality of the nerv HP:0011195 EEG with focal sharp slow wavesAbnormality of the nerv HP:0011196 EEG with focal sharp wavesAbnormality of the nerv HP:0010843 EEG with focal slow activityAbnormality of the nerv HP:0011197 EEG with focal spike wavesAbnormality of the nerv HP:0011193 EEG with focal spikesAbnormality of the nerv HP:0012010 EEG with frontal focal spike wavesAbnormality of the nerv HP:0012015 EEG with frontal focal spikesAbnormality of the nerv HP:0011290 EEG with frontal sharp slow wavesAbnormality of the nerv HP:0011294 EEG with frontal sharp wavesAbnormality of the nerv HP:0011198 EEG with generalized epileptiform dischargesAbnormality of the nerv HP:0010854 EEG with generalized low amplitude activityAbnormality of the nerv HP:0011200 EEG with generalized polymorphic epileptiformAbnormality of the nerv HP:0012001 EEG with generalized polyspikesAbnormality of the nerv HP:0011199 EEG with generalized sharp slow wavesAbnormality of the nerv HP:0010845 EEG with generalized slow activityAbnormality of the nerv HP:0011206 EEG with generalized slow activity grade 1Abnormality of the nerv HP:0011207 EEG with generalized slow activity grade 2Abnormality of the nerv HP:0011208 EEG with generalized slow activity grade 3Abnormality of the nerv HP:0011209 EEG with generalized slow activity grade 4Abnormality of the nerv HP:0012000 EEG with generalized spikesAbnormality of the nerv HP:0010858 EEG with hyperventilation-induced epileptiformAbnormality of the nerv HP:0011183 EEG with hyperventilation-induced focal epilepAbnormality of the nerv HP:0011184 EEG with hyperventilation-induced generalized Abnormality of the nerv HP:0011205 EEG with intermittent slow activityAbnormality of the nerv HP:0001326 EEG with irregular generalized spike and wavAbnormality of the nerv HP:0010855 EEG with localized low amplitude activityAbnormality of the nerv HP:0010844 EEG with multifocal slow activityAbnormality of the nerv HP:0012011 EEG with occipital focal spike wavesAbnormality of the nerv HP:0012016 EEG with occipital focal spikesAbnormality of the nerv HP:0011287 EEG with occipital sharp slow wavesAbnormality of the nerv HP:0011292 EEG with occipital sharp wavesAbnormality of the nerv HP:0011210 EEG with occipital slowingAbnormality of the nerv HP:0012012 EEG with parietal focal spike wavesAbnormality of the nerv HP:0012017 EEG with parietal focal spikesAbnormality of the nerv HP:0011288 EEG with parietal sharp slow wavesAbnormality of the nerv HP:0011295 EEG with parietal sharp wavesAbnormality of the nerv HP:0010857 EEG with periodic abnormalitiesAbnormality of the nerv HP:0010856 EEG with periodic complexesAbnormality of the nerv HP:0010853 EEG with periodic lateralized epileptiform discAbnormality of the nerv HP:0010846 EEG with persistent abnormal rhythmic activityAbnormality of the nerv HP:0010852 EEG with photoparoxysmal responseAbnormality of the nerv HP:0011211 EEG with photoparoxysmal response grade IAbnormality of the nerv HP:0011212 EEG with photoparoxysmal response grade IIAbnormality of the nerv HP:0011213 EEG with photoparoxysmal response grade IIIAbnormality of the nerv HP:0011214 EEG with photoparoxysmal response grade IVAbnormality of the nerv HP:0002392 EEG with polyspike wave complexesAbnormality of the nerv HP:0011194 EEG with series of focal spikes

Abnormality of the nerv HP:0010848 EEG with spike-wave complexes (2.5-3.5 Hz)Abnormality of the nerv HP:0010847 EEG with spike-wave complexes (<2.5 Hz)Abnormality of the nerv HP:0010849 EEG with spike-wave complexes (>3.5 Hz)Abnormality of the nerv HP:0010850 EEG with spike-wave complexesAbnormality of the nerv HP:0012013 EEG with temporal focal spike wavesAbnormality of the nerv HP:0012018 EEG with temporal focal spikesAbnormality of the nerv HP:0011289 EEG with temporal sharp slow wavesAbnormality of the nerv HP:0011296 EEG with temporal sharp wavesAbnormality of the nerv HP:0100288 EMG: myokymic dischargesAbnormality of the nerv HP:0011152 Early onset absence seizuresAbnormality of the nerv HP:0003388 Easy fatigabilityAbnormality of the nerv HP:0010529 EcholaliaAbnormality of the nerv HP:0011728 Elbow clonusAbnormality of the nerv HP:0012655 Elevated CSF dopamine levelAbnormality of the nerv HP:0012706 Elevated brain choline level by MRSAbnormality of the nerv HP:0012707 Elevated brain lactate level by MRSAbnormality of the nerv HP:0011933 Elongated superior cerebellar peduncleAbnormality of the nerv HP:0000712 Emotional labilityAbnormality of the nerv HP:0002383 EncephalitisAbnormality of the nerv HP:0001298 EncephalopathyAbnormality of the nerv HP:0003009 Enhanced neurotoxicity of vincristineAbnormality of the nerv HP:0001340 Enhancement of the C-reflexAbnormality of the nerv HP:0012755 Enlarged brainstemAbnormality of the nerv HP:0012081 Enlarged cerebellumAbnormality of the nerv HP:0002280 Enlarged cisterna magnaAbnormality of the nerv HP:0100951 Enlarged fossa interpeduncularisAbnormality of the nerv HP:0100961 Enlarged hippocampusAbnormality of the nerv HP:0100953 Enlarged interhemispheric fissureAbnormality of the nerv HP:0012645 Enlarged peripheral nerveAbnormality of the nerv HP:0100952 Enlarged sylvian cisternAbnormality of the nerv HP:0012694 Enlarged thalamic volumeAbnormality of the nerv HP:0012181 Entrapment neuropathyAbnormality of the nerv HP:0012216 Entrapment neuropathy of suprascapular nerveAbnormality of the nerv HP:0012186 Entrapment neuropathy of the ulnar nerve at eAbnormality of the nerv HP:0002888 EpendymomaAbnormality of the nerv HP:0100310 Epidural hemorrhageAbnormality of the nerv HP:0011159 Epigastric aurasAbnormality of the nerv HP:0012847 Epilepsia partialis continuaAbnormality of the nerv HP:0200134 Epileptic encephalopathyAbnormality of the nerv HP:0011097 Epileptic spasmsAbnormality of the nerv HP:0011182 Epileptiform EEG dischargesAbnormality of the nerv HP:0002131 Episodic ataxiaAbnormality of the nerv HP:0012431 Episodic fatigueAbnormality of the nerv HP:0012194 Episodic hemiplegiaAbnormality of the nerv HP:0007200 Episodic hypersomniaAbnormality of the nerv HP:0006949 Episodic peripheral neuropathyAbnormality of the nerv HP:0200072 Episodic quadriplegiaAbnormality of the nerv HP:0002267 Exaggerated startle responseAbnormality of the nerv HP:0002189 Excessive daytime sleepinessAbnormality of the nerv HP:0012002 Experiential auras

Abnormality of the nerv HP:0002474 Expressive language delayAbnormality of the nerv HP:0012510 Extra-axial cerebrospinal fluid accumulationAbnormality of the nerv HP:0006737 Extraadrenal pheochromocytomaAbnormality of the nerv HP:0007308 Extrapyramidal dyskinesiaAbnormality of the nerv HP:0007076 Extrapyramidal muscular rigidityAbnormality of the nerv HP:0002454 Eye of the tiger anomaly of globus pallidusAbnormality of the nerv HP:0001483 Eye pokingAbnormality of the nerv HP:0011168 Eyelid myocloniasAbnormality of the nerv HP:0007089 Facial-lingual fasciculationsAbnormality of the nerv HP:0002527 FallsAbnormality of the nerv HP:0002380 FasciculationsAbnormality of the nerv HP:0003473 Fatigable weaknessAbnormality of the nerv HP:0012378 FatigueAbnormality of the nerv HP:0002373 Febrile seizuresAbnormality of the nerv HP:0010525 Finger agnosiaAbnormality of the nerv HP:0007159 Fluctuations in consciousnessAbnormality of the nerv HP:0011187 Focal EEG discharges with propagation to ipsilAbnormality of the nerv HP:0011188 Focal EEG discharges with secondary generaliAbnormality of the nerv HP:0007183 Focal T2 hyperintense basal ganglia lesionAbnormality of the nerv HP:0012748 Focal T2 hyperintense brainstem lesionAbnormality of the nerv HP:0012692 Focal T2 hyperintense thalamic lesionAbnormality of the nerv HP:0012752 Focal T2 hypointense basal ganglia lesionAbnormality of the nerv HP:0012749 Focal T2 hypointense brainstem lesionAbnormality of the nerv HP:0012691 Focal T2 hypointense thalamic lesionAbnormality of the nerv HP:0011154 Focal autonomic seizuresAbnormality of the nerv HP:0011155 Focal autonomic seizures with altered responsAbnormality of the nerv HP:0011156 Focal autonomic seizures without altered respAbnormality of the nerv HP:0002266 Focal clonic seizuresAbnormality of the nerv HP:0004373 Focal dystoniaAbnormality of the nerv HP:0011186 Focal epileptiform discharges with limited propAbnormality of the nerv HP:0007187 Focal lissencephalyAbnormality of the nerv HP:0011153 Focal motor seizuresAbnormality of the nerv HP:0011166 Focal myoclonic seizuresAbnormality of the nerv HP:0007359 Focal seizuresAbnormality of the nerv HP:0002384 Focal seizures with impairment of consciousneAbnormality of the nerv HP:0002349 Focal seizures without impairment of consciouAbnormality of the nerv HP:0011167 Focal tonic seizuresAbnormality of the nerv HP:0007042 Focal white matter lesionsAbnormality of the nerv HP:0007011 Fourth cranial nerve palsyAbnormality of the nerv HP:0002359 Frequent fallsAbnormality of the nerv HP:0006913 Frontal cortical atrophyAbnormality of the nerv HP:0000727 Frontal lobe dementiaAbnormality of the nerv HP:0000743 Frontal release signsAbnormality of the nerv HP:0012482 Frontal venous angiomaAbnormality of the nerv HP:0002439 Frontolimbic dementiaAbnormality of the nerv HP:0006930 Frontoparietal cortical dysplasiaAbnormality of the nerv HP:0007095 Frontoparietal polymicrogyriaAbnormality of the nerv HP:0006892 Frontotemporal cerebral atrophyAbnormality of the nerv HP:0002145 Frontotemporal dementiaAbnormality of the nerv HP:0006899 Fusion of the cerebellar hemispheres

Abnormality of the nerv HP:0010664 Fusion of the left and right thalamiAbnormality of the nerv HP:0010521 Gait apraxiaAbnormality of the nerv HP:0002066 Gait ataxiaAbnormality of the nerv HP:0001288 Gait disturbanceAbnormality of the nerv HP:0002141 Gait imbalanceAbnormality of the nerv HP:0006962 Gait instability, worse in the darkAbnormality of the nerv HP:0006747 GanglioneuroblastomaAbnormality of the nerv HP:0003005 GanglioneuromaAbnormality of the nerv HP:0010821 Gelastic seizuresAbnormality of the nerv HP:0007058 Generalized cerebral atrophy/hypoplasiaAbnormality of the nerv HP:0011169 Generalized clonic seizuresAbnormality of the nerv HP:0007325 Generalized dystoniaAbnormality of the nerv HP:0007034 Generalized hyperreflexiaAbnormality of the nerv HP:0003397 Generalized hypotonia due to defect at the neuromuscular junctionAbnormality of the nerv HP:0002123 Generalized myoclonic seizuresAbnormality of the nerv HP:0002197 Generalized seizuresAbnormality of the nerv HP:0010818 Generalized tonic seizuresAbnormality of the nerv HP:0002069 Generalized tonic-clonic seizuresAbnormality of the nerv HP:0007193 Generalized tonic-clonic seizures on awakeninAbnormality of the nerv HP:0001312 Giant somatosensory evoked potentialsAbnormality of the nerv HP:0100843 GlioblastomaAbnormality of the nerv HP:0012174 Glioblastoma multiformeAbnormality of the nerv HP:0009733 GliomaAbnormality of the nerv HP:0002171 GliosisAbnormality of the nerv HP:0002283 Global brain atrophyAbnormality of the nerv HP:0001263 Global developmental delayAbnormality of the nerv HP:0003001 Glomus jugular tumorAbnormality of the nerv HP:0006715 Glomus tympanicum paragangliomaAbnormality of the nerv HP:0006977 Grammar-specific speech disorderAbnormality of the nerv HP:0002528 Granulovacuolar degenerationAbnormality of the nerv HP:0002281 Gray matter heterotopiasAbnormality of the nerv HP:0011160 Gustatory aurasAbnormality of the nerv HP:0012167 Hair-pullingAbnormality of the nerv HP:0000738 HallucinationsAbnormality of the nerv HP:0012007 Hallucinatory aurasAbnormality of the nerv HP:0002378 Hand tremorAbnormality of the nerv HP:0002599 Head titubationAbnormality of the nerv HP:0002346 Head tremorAbnormality of the nerv HP:0012168 Head-bangingAbnormality of the nerv HP:0002315 HeadacheAbnormality of the nerv HP:0002331 Headache (with pheochromocytoma)Abnormality of the nerv HP:0010797 HemangioblastomaAbnormality of the nerv HP:0100248 HemiballismusAbnormality of the nerv HP:0006813 Hemiclonic seizuresAbnormality of the nerv HP:0007332 Hemifacial seizuresAbnormality of the nerv HP:0010828 Hemifacial spasmAbnormality of the nerv HP:0011215 HemihypsarrhythmiaAbnormality of the nerv HP:0007206 HemimegalencephalyAbnormality of the nerv HP:0001269 HemiparesisAbnormality of the nerv HP:0002301 Hemiplegia

Abnormality of the nerv HP:0004374 Hemiplegia/hemiparesisAbnormality of the nerv HP:0002480 Hepatic encephalopathyAbnormality of the nerv HP:0002282 HeterotopiaAbnormality of the nerv HP:0100316 Hirano bodiesAbnormality of the nerv HP:0012077 Histrionic personality disorderAbnormality of the nerv HP:0001360 HoloprosencephalyAbnormality of the nerv HP:0002324 HydranencephalyAbnormality of the nerv HP:0000238 HydrocephalusAbnormality of the nerv HP:0100565 HydromyeliaAbnormality of the nerv HP:0006801 Hyperactive deep tendon reflexesAbnormality of the nerv HP:0007083 Hyperactive patellar reflexAbnormality of the nerv HP:0000752 HyperactivityAbnormality of the nerv HP:0100963 HyperesthesiaAbnormality of the nerv HP:0002487 HyperkinesisAbnormality of the nerv HP:0011174 Hyperkinetic seizuresAbnormality of the nerv HP:0000710 HyperoralityAbnormality of the nerv HP:0001347 HyperreflexiaAbnormality of the nerv HP:0007350 Hyperreflexia in upper limbsAbnormality of the nerv HP:0007054 Hyperreflexia proximallyAbnormality of the nerv HP:0100786 HypersomniaAbnormality of the nerv HP:0001276 HypertoniaAbnormality of the nerv HP:0003382 Hypertrophic nerve changesAbnormality of the nerv HP:0002519 Hypnagogic hallucinationsAbnormality of the nerv HP:0012459 Hypnic headacheAbnormality of the nerv HP:0006896 Hypnopompic hallucinationsAbnormality of the nerv HP:0002199 Hypocalcemic seizuresAbnormality of the nerv HP:0003472 Hypocalcemic tetanyAbnormality of the nerv HP:0006849 Hypodysplasia of the corpus callosumAbnormality of the nerv HP:0001325 Hypoglycemic comaAbnormality of the nerv HP:0006929 Hypoglycemic encephalopathyAbnormality of the nerv HP:0002173 Hypoglycemic seizuresAbnormality of the nerv HP:0011972 HypoglycorrhachiaAbnormality of the nerv HP:0007103 Hypointensity of cerebral white matter on MRIAbnormality of the nerv HP:0002375 HypokinesiaAbnormality of the nerv HP:0011173 Hypokinetic seizuresAbnormality of the nerv HP:0007036 Hypoplasia of olfactory tractAbnormality of the nerv HP:0002365 Hypoplasia of the brainstemAbnormality of the nerv HP:0002079 Hypoplasia of the corpus callosumAbnormality of the nerv HP:0007333 Hypoplasia of the frontal lobesAbnormality of the nerv HP:0007096 Hypoplasia of the optic tractAbnormality of the nerv HP:0012110 Hypoplasia of the ponsAbnormality of the nerv HP:0007348 Hypoplasia of the pyramidal tractAbnormality of the nerv HP:0006850 Hypoplasia of the ventral ponsAbnormality of the nerv HP:0006894 Hypoplastic olfactory lobesAbnormality of the nerv HP:0012519 Hypoplastic posterior communicating arteryAbnormality of the nerv HP:0001265 HyporeflexiaAbnormality of the nerv HP:0002600 Hyporeflexia of lower limbsAbnormality of the nerv HP:0012391 Hyporeflexia of upper limbsAbnormality of the nerv HP:0003164 Hypothalamic gonadotropin-releasing hormone (GNRH) deficiencyAbnormality of the nerv HP:0002444 Hypothalamic hamartoma

Abnormality of the nerv HP:0012661 Hypothalamic hypometabolism in FDG PETAbnormality of the nerv HP:0008237 Hypothalamic hypothyroidismAbnormality of the nerv HP:0012287 Hypothalamic luteinizing hormone-releasing hoAbnormality of the nerv HP:0002521 HypsarrhythmiaAbnormality of the nerv HP:0012008 Illusory aurasAbnormality of the nerv HP:0000728 Impaired ability to form peer relationshipsAbnormality of the nerv HP:0006858 Impaired distal proprioceptionAbnormality of the nerv HP:0006937 Impaired distal tactile sensationAbnormality of the nerv HP:0006886 Impaired distal vibration sensationAbnormality of the nerv HP:0007328 Impaired pain sensationAbnormality of the nerv HP:0010831 Impaired proprioceptionAbnormality of the nerv HP:0000735 Impaired social interactionsAbnormality of the nerv HP:0012760 Impaired social reciprocityAbnormality of the nerv HP:0010830 Impaired tactile sensationAbnormality of the nerv HP:0010829 Impaired temperature sensationAbnormality of the nerv HP:0011811 Impaired touch localizationAbnormality of the nerv HP:0011810 Impaired two-point discriminationAbnormality of the nerv HP:0000758 Impaired use of nonverbal behaviorsAbnormality of the nerv HP:0006938 Impaired vibration sensation at anklesAbnormality of the nerv HP:0002166 Impaired vibration sensation in the lower limbsAbnormality of the nerv HP:0002495 Impaired vibratory sensationAbnormality of the nerv HP:0010794 Impaired visuospatial constructive cognitionAbnormality of the nerv HP:0100710 ImpulsivityAbnormality of the nerv HP:0002540 Inability to walkAbnormality of the nerv HP:0006915 Inability to walk by childhood/adolescenceAbnormality of the nerv HP:0000719 Inappropriate behaviorAbnormality of the nerv HP:0000748 Inappropriate laughterAbnormality of the nerv HP:0008768 Inappropriate sexual behaviorAbnormality of the nerv HP:0002546 Incomprehensible speechAbnormality of the nerv HP:0002311 IncoordinationAbnormality of the nerv HP:0009709 Increased CSF interferon alphaAbnormality of the nerv HP:0002490 Increased CSF lactateAbnormality of the nerv HP:0002922 Increased CSF proteinAbnormality of the nerv HP:0012644 Increased caudate lactate levelAbnormality of the nerv HP:0011813 Increased cerebral lipofuscinAbnormality of the nerv HP:0003463 Increased extraneuronal autofluorescent lipopiAbnormality of the nerv HP:0002516 Increased intracranial pressureAbnormality of the nerv HP:0002074 Increased neuronal autofluorescent lipopigmenAbnormality of the nerv HP:0007105 Infantile encephalopathyAbnormality of the nerv HP:0012469 Infantile spasmsAbnormality of the nerv HP:0007068 Inferior vermis hypoplasiaAbnormality of the nerv HP:0000732 Inflexible adherence to routines or ritualsAbnormality of the nerv HP:0100785 InsomniaAbnormality of the nerv HP:0001249 Intellectual disabilityAbnormality of the nerv HP:0006889 Intellectual disability, borderlineAbnormality of the nerv HP:0001256 Intellectual disability, mildAbnormality of the nerv HP:0002342 Intellectual disability, moderateAbnormality of the nerv HP:0002187 Intellectual disability, profoundAbnormality of the nerv HP:0006887 Intellectual disability, progressiveAbnormality of the nerv HP:0010864 Intellectual disability, severe

Abnormality of the nerv HP:0002080 Intention tremorAbnormality of the nerv HP:0006862 Intermittent cerebellar ataxiaAbnormality of the nerv HP:0011964 Intermittent painful muscle spasmsAbnormality of the nerv HP:0007229 Intracerebral periventricular calcificationsAbnormality of the nerv HP:0010576 Intracranial cystic lesionAbnormality of the nerv HP:0012097 Intracranial dermoid cystAbnormality of the nerv HP:0012096 Intracranial epidermoid cystAbnormality of the nerv HP:0002170 Intracranial hemorrhageAbnormality of the nerv HP:0100009 Intracranial meningiomaAbnormality of the nerv HP:0012488 Intraventricular arachnoid cystAbnormality of the nerv HP:0007087 Involuntary jerking movementsAbnormality of the nerv HP:0004305 Involuntary movementsAbnormality of the nerv HP:0007316 Involuntary writhing movementsAbnormality of the nerv HP:0012675 Iron accumulation in brainAbnormality of the nerv HP:0012677 Iron accumulation in globus pallidusAbnormality of the nerv HP:0012678 Iron accumulation in substantia nigraAbnormality of the nerv HP:0007208 Irregular loops and focal folding of myelin sheathsAbnormality of the nerv HP:0000737 IrritabilityAbnormality of the nerv HP:0002140 Ischemic strokeAbnormality of the nerv HP:0012006 Jamais vuAbnormality of the nerv HP:0012392 Jaw hyporeflexiaAbnormality of the nerv HP:0001351 Jerk-locked premyoclonus spikesAbnormality of the nerv HP:0006961 Jerky head movementsAbnormality of the nerv HP:0001343 KernicterusAbnormality of the nerv HP:0012793 Kinked brainstemAbnormality of the nerv HP:0011449 Knee clonusAbnormality of the nerv HP:0000757 Lack of insightAbnormality of the nerv HP:0002332 Lack of peer relationshipsAbnormality of the nerv HP:0000721 Lack of spontaneous playAbnormality of the nerv HP:0100318 Lafora bodiesAbnormality of the nerv HP:0002463 Language impairmentAbnormality of the nerv HP:0007048 Large basal gangliaAbnormality of the nerv HP:0012049 Laryngeal dystoniaAbnormality of the nerv HP:0006904 Late-onset spinocerebellar degenerationAbnormality of the nerv HP:0001254 LethargyAbnormality of the nerv HP:0002415 LeukodystrophyAbnormality of the nerv HP:0002352 LeukoencephalopathyAbnormality of the nerv HP:0100315 Lewy bodiesAbnormality of the nerv HP:0002070 Limb ataxiaAbnormality of the nerv HP:0002406 Limb dysmetriaAbnormality of the nerv HP:0002451 Limb dystoniaAbnormality of the nerv HP:0007289 Limb fasciculationsAbnormality of the nerv HP:0002509 Limb hypertoniaAbnormality of the nerv HP:0200085 Limb tremorAbnormality of the nerv HP:0007343 Limbic malformationsAbnormality of the nerv HP:0006931 Lipoma of corpus callosumAbnormality of the nerv HP:0100251 Lipomas of the central neryous systemAbnormality of the nerv HP:0001339 LissencephalyAbnormality of the nerv HP:0006870 Lobar holoprosencephalyAbnormality of the nerv HP:0006768 Localized neuroblastoma

Abnormality of the nerv HP:0011285 Long-segment aganglionic megacolonAbnormality of the nerv HP:0002423 Long-tract signsAbnormality of the nerv HP:0007001 Loss of Purkinje cells in the cerebellar vermisAbnormality of the nerv HP:0006957 Loss of ability to walkAbnormality of the nerv HP:0008945 Loss of ability to walk in early childhoodAbnormality of the nerv HP:0006794 Loss of ability to walk in first decadeAbnormality of the nerv HP:0007185 Loss of consciousnessAbnormality of the nerv HP:0002371 Loss of speechAbnormality of the nerv HP:0012446 Low CSF 5-methyltetrahydrofolateAbnormality of the nerv HP:0000744 Low frustration toleranceAbnormality of the nerv HP:0011181 Low voltage EEGAbnormality of the nerv HP:0002395 Lower limb hyperreflexiaAbnormality of the nerv HP:0006895 Lower limb hypertoniaAbnormality of the nerv HP:0002061 Lower limb spasticityAbnormality of the nerv HP:0007227 MacrogyriaAbnormality of the nerv HP:0100836 Malignant neoplasm of the central nervous systemAbnormality of the nerv HP:0100754 ManiaAbnormality of the nerv HP:0002885 MedulloblastomaAbnormality of the nerv HP:0001355 MegalencephalyAbnormality of the nerv HP:0002354 Memory impairmentAbnormality of the nerv HP:0100250 Meningeal calcificationAbnormality of the nerv HP:0002858 MeningiomaAbnormality of the nerv HP:0001287 MeningitisAbnormality of the nerv HP:0002435 MeningoceleAbnormality of the nerv HP:0001268 Mental deteriorationAbnormality of the nerv HP:0006926 Metachromatic leukodystrophy variantAbnormality of the nerv HP:0012493 Middle cerebral artery stenosisAbnormality of the nerv HP:0007045 Midline brain calcificationsAbnormality of the nerv HP:0006866 Midline central nervous system lipomasAbnormality of the nerv HP:0002076 MigraineAbnormality of the nerv HP:0002077 Migraine with auraAbnormality of the nerv HP:0002083 Migraine without auraAbnormality of the nerv HP:0011346 Mild expressive language delayAbnormality of the nerv HP:0010952 Mild fetal ventriculomegalyAbnormality of the nerv HP:0011342 Mild global developmental delayAbnormality of the nerv HP:0011350 Mild receptive language delayAbnormality of the nerv HP:0006789 Mitochondrial encephalopathyAbnormality of the nerv HP:0007327 Mixed demyelinating and axonal polyneuropathyAbnormality of the nerv HP:0012004 Mnemonic aurasAbnormality of the nerv HP:0011345 Moderate expressive language delayAbnormality of the nerv HP:0011343 Moderate global developmental delayAbnormality of the nerv HP:0011351 Moderate receptive language delayAbnormality of the nerv HP:0002419 Molar tooth sign on MRIAbnormality of the nerv HP:0009831 MononeuropathyAbnormality of the nerv HP:0001575 Mood changesAbnormality of the nerv HP:0000720 Mood swingsAbnormality of the nerv HP:0007000 Morning myoclonic jerksAbnormality of the nerv HP:0002011 Morphological abnormality of the central nervoAbnormality of the nerv HP:0002062 Morphological abnormality of the pyramidal tracAbnormality of the nerv HP:0002427 Motor aphasia

Abnormality of the nerv HP:0007002 Motor axonal neuropathyAbnormality of the nerv HP:0012078 Motor conduction blockAbnormality of the nerv HP:0001270 Motor delayAbnormality of the nerv HP:0002333 Motor deteriorationAbnormality of the nerv HP:0007178 Motor polyneuropathyAbnormality of the nerv HP:0100034 Motor ticsAbnormality of the nerv HP:0011834 Moyamoya phenomenonAbnormality of the nerv HP:0007052 Multifocal cerebral white matter abnormalitiesAbnormality of the nerv HP:0010841 Multifocal epileptiform dischargesAbnormality of the nerv HP:0005220 Multiple intestinal neurofibromatosisAbnormality of the nerv HP:0010546 Muscle fibrillationAbnormality of the nerv HP:0002300 MutismAbnormality of the nerv HP:0004336 Myelin outfoldingsAbnormality of the nerv HP:0006990 Myelin-dependent gliosisAbnormality of the nerv HP:0012486 MyelitisAbnormality of the nerv HP:0002475 MyelomeningoceleAbnormality of the nerv HP:0002196 MyelopathyAbnormality of the nerv HP:0011150 Myoclonic absencesAbnormality of the nerv HP:0011170 Myoclonic atonic seizuresAbnormality of the nerv HP:0003739 Myoclonic spasmsAbnormality of the nerv HP:0001336 MyoclonusAbnormality of the nerv HP:0002411 MyokymiaAbnormality of the nerv HP:0012170 Nail-bitingAbnormality of the nerv HP:0008376 Nasal, dysarthic speechAbnormality of the nerv HP:0006976 Necrotizing encephalopathyAbnormality of the nerv HP:0100006 Neoplasm of the central nervous systemAbnormality of the nerv HP:0004375 Neoplasm of the nervous systemAbnormality of the nerv HP:0100007 Neoplasm of the peripheral nervous systemAbnormality of the nerv HP:0004376 Neuroblastic tumorsAbnormality of the nerv HP:0003006 NeuroblastomaAbnormality of the nerv HP:0002180 NeurodegenerationAbnormality of the nerv HP:0012759 Neurodevelopmental abnormalityAbnormality of the nerv HP:0012758 Neurodevelopmental delayAbnormality of the nerv HP:0100634 Neuroendocrine neoplasmAbnormality of the nerv HP:0002185 Neurofibrillary tanglesAbnormality of the nerv HP:0001067 NeurofibromasAbnormality of the nerv HP:0002167 Neurological speech impairmentAbnormality of the nerv HP:0002068 Neuromuscular dysphagiaAbnormality of the nerv HP:0200147 Neuronal loss in basal gangliaAbnormality of the nerv HP:0002529 Neuronal loss in central nervous systemAbnormality of the nerv HP:0007190 Neuronal loss in the cerebral cortexAbnormality of the nerv HP:0008763 No social interactionAbnormality of the nerv HP:0007238 Nonarteriosclerotic cerebral calcificationAbnormality of the nerv HP:0010953 Noncommunicating hydrocephalusAbnormality of the nerv HP:0002470 Nonprogressive cerebellar ataxiaAbnormality of the nerv HP:0007030 Nonprogressive encephalopathyAbnormality of the nerv HP:0002372 Normal interictal EEGAbnormality of the nerv HP:0002343 Normal pressure hydrocephalusAbnormality of the nerv HP:0000722 Obsessive-compulsive behaviorAbnormality of the nerv HP:0008770 Obsessive-compulsive trait

Abnormality of the nerv HP:0002870 Obstructive sleep apneaAbnormality of the nerv HP:0011151 Obtundation statusAbnormality of the nerv HP:0009595 Occasional neurofibromasAbnormality of the nerv HP:0012105 Occipital cortical atrophyAbnormality of the nerv HP:0002436 Occipital meningoceleAbnormality of the nerv HP:0007271 Occipital myelomeningoceleAbnormality of the nerv HP:0012318 Occipital neuralgiaAbnormality of the nerv HP:0010868 Ocular dyssynergiaAbnormality of the nerv HP:0010553 Oculogyric crisisAbnormality of the nerv HP:0011161 Olfactory AurasAbnormality of the nerv HP:0001341 Olfactory lobe agenesisAbnormality of the nerv HP:0008303 Olivary degenerationAbnormality of the nerv HP:0002542 Olivopontocerebellar atrophyAbnormality of the nerv HP:0006955 Olivopontocerebellar hypoplasiaAbnormality of the nerv HP:0003383 Onion bulb formationAbnormality of the nerv HP:0100954 Open operculumAbnormality of the nerv HP:0002179 OpisthotonusAbnormality of the nerv HP:0010865 Oppositional defiant disorderAbnormality of the nerv HP:0009734 Optic gliomaAbnormality of the nerv HP:0012523 Oral aversionAbnormality of the nerv HP:0002310 Orofacial dyskinesiaAbnormality of the nerv HP:0012048 Oromandibular dystoniaAbnormality of the nerv HP:0007301 Oromotor apraxiaAbnormality of the nerv HP:0001278 Orthostatic hypotensionAbnormality of the nerv HP:0004926 Orthostatic hypotension due to autonomic dysfunctionAbnormality of the nerv HP:0012173 Orthostatic tachycardiaAbnormality of the nerv HP:0001886 Osteomyelitis or necrosis, distal, due to sensory neuropathy (feet)Abnormality of the nerv HP:0100025 OverfriendlinessAbnormality of the nerv HP:0001302 PachygyriaAbnormality of the nerv HP:0012531 PainAbnormality of the nerv HP:0007021 Pain insensitivityAbnormality of the nerv HP:0010530 Palatal myoclonusAbnormality of the nerv HP:0007132 Pallidal degenerationAbnormality of the nerv HP:0006825 Pallor of dorsal columns of the spinal cordAbnormality of the nerv HP:0007576 Palmar neurofibromasAbnormality of the nerv HP:0002668 ParagangliomaAbnormality of the nerv HP:0002864 Paraganglioma of head and neckAbnormality of the nerv HP:0002377 Paraganglioma-related cranial nerve palsyAbnormality of the nerv HP:0003470 ParalysisAbnormality of the nerv HP:0010549 Paralysis due to lesions of the principle motor tAbnormality of the nerv HP:0011999 ParanoiaAbnormality of the nerv HP:0002385 ParaparesisAbnormality of the nerv HP:0010550 ParaplegiaAbnormality of the nerv HP:0010551 Paraplegia/paraparesisAbnormality of the nerv HP:0006751 Paraspinal neurofibromasAbnormality of the nerv HP:0003401 ParesthesiaAbnormality of the nerv HP:0012104 Parietal cortical atrophyAbnormality of the nerv HP:0012662 Parietal hypometabolism in FDG PETAbnormality of the nerv HP:0001300 ParkinsonismAbnormality of the nerv HP:0002548 Parkinsonism with favorable response to dopaminergic medication

Abnormality of the nerv HP:0000749 Paroxysmal bursts of laughterAbnormality of the nerv HP:0007098 Paroxysmal choreoathetosisAbnormality of the nerv HP:0002330 Paroxysmal drowsinessAbnormality of the nerv HP:0007166 Paroxysmal dyskinesiaAbnormality of the nerv HP:0002268 Paroxysmal dystoniaAbnormality of the nerv HP:0011973 Paroxysmal lethargyAbnormality of the nerv HP:0002951 Partial absence of cerebellar vermisAbnormality of the nerv HP:0001338 Partial agenesis of the corpus callosumAbnormality of the nerv HP:0011180 Partial beta-EEGAbnormality of the nerv HP:0002545 Patchy demyelination of subcortical white matteAbnormality of the nerv HP:0007277 Paucity of anterior horn motor neuronsAbnormality of the nerv HP:0007215 Periodic hyperkalemic paralysisAbnormality of the nerv HP:0008153 Periodic hypokalemic paresisAbnormality of the nerv HP:0003768 Periodic paralysisAbnormality of the nerv HP:0009593 Peripheral SchwannomaAbnormality of the nerv HP:0003384 Peripheral axonal atrophyAbnormality of the nerv HP:0000764 Peripheral axonal degenerationAbnormality of the nerv HP:0003477 Peripheral axonal neuropathyAbnormality of the nerv HP:0011096 Peripheral demyelinationAbnormality of the nerv HP:0003469 Peripheral dysmyelinationAbnormality of the nerv HP:0007182 Peripheral hypomyelinationAbnormality of the nerv HP:0003406 Peripheral nerve compressionAbnormality of the nerv HP:0006717 Peripheral neuroepitheliomaAbnormality of the nerv HP:0009830 Peripheral neuropathyAbnormality of the nerv HP:0012650 Perisylvian polymicrogyriaAbnormality of the nerv HP:0012520 Perivascular spacesAbnormality of the nerv HP:0007109 Periventricular cystsAbnormality of the nerv HP:0007165 Periventricular gray matter heterotopiaAbnormality of the nerv HP:0006970 Periventricular leukomalaciaAbnormality of the nerv HP:0012794 Periventricular white matter hypodensitiesAbnormality of the nerv HP:0000751 Personality changesAbnormality of the nerv HP:0012075 Personality disorderAbnormality of the nerv HP:0002666 PheochromocytomaAbnormality of the nerv HP:0100035 Phonic ticsAbnormality of the nerv HP:0002183 PhonophobiaAbnormality of the nerv HP:0001327 Photomyoclonic seizuresAbnormality of the nerv HP:0007207 Photosensitive tonic-clonic seizuresAbnormality of the nerv HP:0011856 PicaAbnormality of the nerv HP:0010799 PinealomaAbnormality of the nerv HP:0010513 Pituitary calcificationAbnormality of the nerv HP:0009732 Plexiform neurofibromaAbnormality of the nerv HP:0001959 PolydipsiaAbnormality of the nerv HP:0002126 PolymicrogyriaAbnormality of the nerv HP:0006821 Polymicrogyria, anterior to posterior gradientAbnormality of the nerv HP:0011192 Polymorphic focal epileptiform dischargesAbnormality of the nerv HP:0001271 PolyneuropathyAbnormality of the nerv HP:0002591 PolyphagiaAbnormality of the nerv HP:0006879 Pontocerebellar atrophyAbnormality of the nerv HP:0002370 Poor coordinationAbnormality of the nerv HP:0000817 Poor eye contact

Abnormality of the nerv HP:0007010 Poor fine motor coordinationAbnormality of the nerv HP:0007015 Poor gross motor coordinationAbnormality of the nerv HP:0007057 Poor hand-eye coordinationAbnormality of the nerv HP:0002275 Poor motor coordinationAbnormality of the nerv HP:0002465 Poor speechAbnormality of the nerv HP:0007027 Poorly formed metencephalonAbnormality of the nerv HP:0002132 PorencephalyAbnormality of the nerv HP:0002403 Positive Romberg signAbnormality of the nerv HP:0012495 Posterior cerebral artery stenosisAbnormality of the nerv HP:0006859 Posterior leukoencephalopathyAbnormality of the nerv HP:0005307 Postural hypotension with compensatory tachycardiaAbnormality of the nerv HP:0002172 Postural instabilityAbnormality of the nerv HP:0002174 Postural tremorAbnormality of the nerv HP:0012659 Prefrontal hypometabolism in FDG PETAbnormality of the nerv HP:0002476 Primitive reflexes (palmomental, snout, glabellar)Abnormality of the nerv HP:0012736 Profound global developmental delayAbnormality of the nerv HP:0007069 Profound static encephalopathyAbnormality of the nerv HP:0002073 Progressive cerebellar ataxiaAbnormality of the nerv HP:0007326 Progressive choreoathetosisAbnormality of the nerv HP:0002448 Progressive encephalopathyAbnormality of the nerv HP:0007153 Progressive extrapyramidal movement disorderAbnormality of the nerv HP:0007158 Progressive extrapyramidal muscular rigidityAbnormality of the nerv HP:0007017 Progressive forgetfulnessAbnormality of the nerv HP:0007240 Progressive gait ataxiaAbnormality of the nerv HP:0002505 Progressive inability to walkAbnormality of the nerv HP:0007064 Progressive language deteriorationAbnormality of the nerv HP:0006980 Progressive leukoencephalopathyAbnormality of the nerv HP:0002344 Progressive neurologic deteriorationAbnormality of the nerv HP:0007133 Progressive peripheral neuropathyAbnormality of the nerv HP:0007272 Progressive psychomotor deteriorationAbnormality of the nerv HP:0007199 Progressive spastic paraparesisAbnormality of the nerv HP:0007020 Progressive spastic paraplegiaAbnormality of the nerv HP:0002478 Progressive spastic quadriplegiaAbnormality of the nerv HP:0002191 Progressive spasticityAbnormality of the nerv HP:0007221 Progressive truncal ataxiaAbnormality of the nerv HP:0007100 Progressive ventriculomegalyAbnormality of the nerv HP:0004466 Prolonged brainstem auditory evoked potentialsAbnormality of the nerv HP:0003436 Prolonged miniature endplate currentsAbnormality of the nerv HP:0007104 Prolonged somatosensory evoked potentialsAbnormality of the nerv HP:0010528 ProsopagnosiaAbnormality of the nerv HP:0002193 Pseudobulbar behavioral symptomsAbnormality of the nerv HP:0007024 Pseudobulbar paralysisAbnormality of the nerv HP:0002200 Pseudobulbar signsAbnormality of the nerv HP:0011162 Psychic aurasAbnormality of the nerv HP:0002361 Psychomotor deteriorationAbnormality of the nerv HP:0000709 PsychosisAbnormality of the nerv HP:0000725 Psychotic episodesAbnormality of the nerv HP:0001345 Psychotic mentationAbnormality of the nerv HP:0100636 Pulmonary paragliomaAbnormality of the nerv HP:0007307 Rapid neurologic deterioration

Abnormality of the nerv HP:0010863 Receptive language delayAbnormality of the nerv HP:0007274 Recurrent bacterial meningitisAbnormality of the nerv HP:0004968 Recurrent cerebral hemorrhageAbnormality of the nerv HP:0007335 Recurrent encephalopathyAbnormality of the nerv HP:0100023 Recurrent hand flappingAbnormality of the nerv HP:0006946 Recurrent meningitisAbnormality of the nerv HP:0007236 Recurrent subcortical infarctsAbnormality of the nerv HP:0012656 Reduced CSF dopamine levelAbnormality of the nerv HP:0012708 Reduced brain N-acetyl aspartate level by MRAbnormality of the nerv HP:0004372 Reduced consciousness/confusionAbnormality of the nerv HP:0001315 Reduced tendon reflexesAbnormality of the nerv HP:0100709 Reduction of oligodendrogliaAbnormality of the nerv HP:0008762 Repetitive compulsive behaviorAbnormality of the nerv HP:0002322 Resting tremorAbnormality of the nerv HP:0012452 Restless legsAbnormality of the nerv HP:0000711 RestlessnessAbnormality of the nerv HP:0000723 Restrictive behaviorAbnormality of the nerv HP:0006951 Retrocerebellar cystAbnormality of the nerv HP:0002063 RigidityAbnormality of the nerv HP:0100320 Rosenthal fibresAbnormality of the nerv HP:0002168 Scanning speechAbnormality of the nerv HP:0010636 SchizencephalyAbnormality of the nerv HP:0100753 SchizophreniaAbnormality of the nerv HP:0100008 SchwannomaAbnormality of the nerv HP:0012407 Scissor gaitAbnormality of the nerv HP:0007107 Segmental peripheral demyelinationAbnormality of the nerv HP:0003481 Segmental peripheral demyelination/remyelinatAbnormality of the nerv HP:0001250 SeizuresAbnormality of the nerv HP:0012169 Self-bitingAbnormality of the nerv HP:0100716 Self-injurious behaviorAbnormality of the nerv HP:0000742 Self-mutilationAbnormality of the nerv HP:0008767 Self-mutilation of tongue and lips due to involuntary movementsAbnormality of the nerv HP:0002507 Semilobar holoprosencephalyAbnormality of the nerv HP:0100256 Senile plaquesAbnormality of the nerv HP:0007141 Sensorimotor neuropathyAbnormality of the nerv HP:0006865 Sensorimotor polyneuropathy affecting arms more than legsAbnormality of the nerv HP:0010871 Sensory ataxiaAbnormality of the nerv HP:0003434 Sensory ataxic neuropathyAbnormality of the nerv HP:0003390 Sensory axonal neuropathyAbnormality of the nerv HP:0003474 Sensory impairmentAbnormality of the nerv HP:0000763 Sensory neuropathyAbnormality of the nerv HP:0007258 Severe demyelination of the white matterAbnormality of the nerv HP:0006863 Severe expressive language delayAbnormality of the nerv HP:0011344 Severe global developmental delayAbnormality of the nerv HP:0006882 Severe hydrocephalusAbnormality of the nerv HP:0011352 Severe receptive language delayAbnormality of the nerv HP:0006893 Severely dysplastic cerebellumAbnormality of the nerv HP:0000736 Short attention spanAbnormality of the nerv HP:0200012 Short corpus callosumAbnormality of the nerv HP:0007311 Short stepped shuffling gait

Abnormality of the nerv HP:0011284 Short-segment aganglionic megacolonAbnormality of the nerv HP:0002362 Shuffling gaitAbnormality of the nerv HP:0100962 ShynessAbnormality of the nerv HP:0011171 Simple febrile seizuresAbnormality of the nerv HP:0012166 Skin-pickingAbnormality of the nerv HP:0010535 Sleep apneaAbnormality of the nerv HP:0002360 Sleep disturbanceAbnormality of the nerv HP:0012323 Sleep myoclonusAbnormality of the nerv HP:0006979 Sleep-wake cycle disturbanceAbnormality of the nerv HP:0007164 Slowed slurred speechAbnormality of the nerv HP:0006983 Slowly progressive spastic quadriparesisAbnormality of the nerv HP:0001350 Slurred speechAbnormality of the nerv HP:0012697 Small basal gangliaAbnormality of the nerv HP:0002472 Small cerebral cortexAbnormality of the nerv HP:0007086 Social and occupational deteriorationAbnormality of the nerv HP:0011163 Somatosensory aurasAbnormality of the nerv HP:0001262 SomnolenceAbnormality of the nerv HP:0002497 Spastic ataxiaAbnormality of the nerv HP:0001264 Spastic diplegiaAbnormality of the nerv HP:0002464 Spastic dysarthriaAbnormality of the nerv HP:0002064 Spastic gaitAbnormality of the nerv HP:0011099 Spastic hemiplegiaAbnormality of the nerv HP:0002313 Spastic paraparesisAbnormality of the nerv HP:0001258 Spastic paraplegiaAbnormality of the nerv HP:0001285 Spastic tetraparesisAbnormality of the nerv HP:0002510 Spastic tetraplegiaAbnormality of the nerv HP:0001257 SpasticityAbnormality of the nerv HP:0002501 Spasticity of pharyngeal musclesAbnormality of the nerv HP:0001328 Specific learning disabilityAbnormality of the nerv HP:0011098 Speech apraxiaAbnormality of the nerv HP:0002414 Spina bifidaAbnormality of the nerv HP:0003298 Spina bifida occultaAbnormality of the nerv HP:0004601 Spina bifida occulta at L5Abnormality of the nerv HP:0002390 Spinal arteriovenous malformationAbnormality of the nerv HP:0002176 Spinal cord compressionAbnormality of the nerv HP:0100561 Spinal cord lesionsAbnormality of the nerv HP:0008311 Spinal cord posterior columns myelin lossAbnormality of the nerv HP:0010302 Spinal cord tumorAbnormality of the nerv HP:0010301 Spinal dysraphismAbnormality of the nerv HP:0009713 Spinal hemangioblastomaAbnormality of the nerv HP:0010304 Spinal meningeal diverticulumAbnormality of the nerv HP:0100010 Spinal meningiomaAbnormality of the nerv HP:0010531 Spinal myoclonusAbnormality of the nerv HP:0009735 Spinal neurofibromasAbnormality of the nerv HP:0009745 Spinalarachnoid cystAbnormality of the nerv HP:0007263 Spinocerebellar atrophyAbnormality of the nerv HP:0002503 Spinocerebellar tract degenerationAbnormality of the nerv HP:0007232 Spinocerebellar tract disease in lower limbsAbnormality of the nerv HP:0010833 Spontaneous pain sensationAbnormality of the nerv HP:0002133 Status epilepticus

Abnormality of the nerv HP:0003376 Steppage gaitAbnormality of the nerv HP:0000733 Stereotypic behaviorAbnormality of the nerv HP:0012172 Stereotypical body rockingAbnormality of the nerv HP:0012171 Stereotypical hand wringingAbnormality of the nerv HP:0001297 StrokeAbnormality of the nerv HP:0002401 Stroke-like episodesAbnormality of the nerv HP:0002138 Subarachnoid hemorrhageAbnormality of the nerv HP:0012157 Subcortical cerebral atrophyAbnormality of the nerv HP:0007123 Subcortical dementiaAbnormality of the nerv HP:0007346 Subcortical white matter calcificationsAbnormality of the nerv HP:0100698 Subcutaneous neurofibromasAbnormality of the nerv HP:0100309 Subdural hemorrhageAbnormality of the nerv HP:0002416 Subependymal cystsAbnormality of the nerv HP:0009718 Subependymal giant-cell astrocytomaAbnormality of the nerv HP:0009716 Subependymal nodulesAbnormality of the nerv HP:0011960 Substantia nigra gliosisAbnormality of the nerv HP:0003269 Sudanophilic leukodystrophyAbnormality of the nerv HP:0012489 Suprasellar arachnoid cystAbnormality of the nerv HP:0007039 Symmetric lesions of the basal gangliaAbnormality of the nerv HP:0007262 Symmetric peripheral demyelinationAbnormality of the nerv HP:0006851 Symmetric spinal nerve root neurofibromasAbnormality of the nerv HP:0006873 Symmetrical progressive peripheral demyelinatAbnormality of the nerv HP:0011145 Symptomatic seizuresAbnormality of the nerv HP:0003396 SyringomyeliaAbnormality of the nerv HP:0012753 T2 hypointense basal gangliaAbnormality of the nerv HP:0012750 T2 hypointense brainstemAbnormality of the nerv HP:0012690 T2 hypointense thalamusAbnormality of the nerv HP:0007112 Temporal cortical atrophyAbnormality of the nerv HP:0012228 Tension-type headacheAbnormality of the nerv HP:0002144 Tethered cordAbnormality of the nerv HP:0002273 TetraparesisAbnormality of the nerv HP:0002445 TetraplegiaAbnormality of the nerv HP:0012660 Thalamic hypometabolism in FDG PETAbnormality of the nerv HP:0006891 Thick cerebral cortexAbnormality of the nerv HP:0007074 Thick corpus callosumAbnormality of the nerv HP:0002404 Thickened superior cerebellar peduncleAbnormality of the nerv HP:0100033 TicsAbnormality of the nerv HP:0100703 Tongue thrustingAbnormality of the nerv HP:0001304 Torsion dystoniaAbnormality of the nerv HP:0004938 Tortuous cerebral arteriesAbnormality of the nerv HP:0011286 Total colonic aganglionosisAbnormality of the nerv HP:0005241 Total intestinal aganglionosisAbnormality of the nerv HP:0010534 Transient global amnesiaAbnormality of the nerv HP:0002326 Transient ischemic attackAbnormality of the nerv HP:0006932 Transient psychotic episodesAbnormality of the nerv HP:0001337 TremorAbnormality of the nerv HP:0100661 Trigeminal neuralgiaAbnormality of the nerv HP:0100564 TriplomyeliaAbnormality of the nerv HP:0010834 Trophic changes related to painAbnormality of the nerv HP:0003091 Trophic limb changes

Abnormality of the nerv HP:0007191 Tropical spastic paraparesisAbnormality of the nerv HP:0002078 Truncal ataxiaAbnormality of the nerv HP:0006818 Type I lissencephalyAbnormality of the nerv HP:0007260 Type II lissencephalyAbnormality of the nerv HP:0011147 Typical absence seizuresAbnormality of the nerv HP:0012083 Ubiquitin-positive cerebral inclusion bodiesAbnormality of the nerv HP:0011190 Uni- and bilateral multifocal epileptiform dischaAbnormality of the nerv HP:0011191 Unilateral multifocal epileptiform dischargesAbnormality of the nerv HP:0006927 Unilateral polymicrogyriaAbnormality of the nerv HP:0009590 Unilateral vestibular SchwannomaAbnormality of the nerv HP:0002317 Unsteady gaitAbnormality of the nerv HP:0200049 Upper limb hypertoniaAbnormality of the nerv HP:0007351 Upper limb postural tremorAbnormality of the nerv HP:0006986 Upper limb spasticityAbnormality of the nerv HP:0002127 Upper motor neuron abnormalityAbnormality of the nerv HP:0002886 Vagal paragangliomaAbnormality of the nerv HP:0011164 Vegetative aurasAbnormality of the nerv HP:0002119 VentriculomegalyAbnormality of the nerv HP:0011175 Versive seizuresAbnormality of the nerv HP:0009588 Vestibular SchwannomaAbnormality of the nerv HP:0012422 Villous hypertrophy of choroid plexusAbnormality of the nerv HP:0008760 Violent behaviorAbnormality of the nerv HP:0011165 Visual aurasAbnormality of the nerv HP:0002367 Visual hallucinationsAbnormality of the nerv HP:0006803 Vivid hallucinationsAbnormality of the nerv HP:0012477 Vocal tremorAbnormality of the nerv HP:0002515 Waddling gaitAbnormality of the nerv HP:0002394 Walking on tiptoesAbnormality of the nerv HP:0006812 White mater abnormalities in the posterior periventricular regionAbnormality of the nerv HP:0007314 White matter neuronal heterotopiaAbnormality of the nerv HP:0012765 Widened cerebellar subarachnoid spaceAbnormality of the nerv HP:0012766 Widened cerebral subarachnoid spaceAbnormality of the nerv HP:0012704 Widened subarachnoid spaceAbnormality of the nerv HP:0002356 Writer's crampAbnormality of the nerv HP:0004614 Spina bifida occulta at S1

Abnormality of the abdomenAbnormality of the abd HP:0011848 Abdominal colicAbnormality of the abd HP:0003270 Abdominal distentionAbnormality of the abd HP:0002027 Abdominal painAbnormality of the abd HP:0003363 Abdominal situs inversusAbnormality of the abd HP:0011458 Abdominal symptomAbnormality of the abd HP:0010866 Abdominal wall defectAbnormality of the abd HP:0009023 Abdominal wall muscle weaknessAbnormality of the abd HP:0012440 Abnormal biliary tract morphologyAbnormality of the abd HP:0012439 Abnormal biliary tract physiologyAbnormality of the abd HP:0012437 Abnormal gallbladder morphologyAbnormality of the abd HP:0012438 Abnormal gallbladder physiologyAbnormality of the abd HP:0012700 Abnormal large intestine physiologyAbnormality of the abd HP:0200148 Abnormal liver function tests during pregnancyAbnormality of the abd HP:0100752 Abnormal liver lobulation

Abnormality of the abd HP:0012094 Abnormal pancreas sizeAbnormality of the abd HP:0011620 Abnormality of abdominal situsAbnormality of the abd HP:0012093 Abnormality of endocrine pancreas physiologyAbnormality of the abd HP:0012092 Abnormality of exocrine pancreas physiologyAbnormality of the abd HP:0004296 Abnormality of gastrointestinal vasculatureAbnormality of the abd HP:0012090 Abnormality of pancreas morphologyAbnormality of the abd HP:0012091 Abnormality of pancreas physiologyAbnormality of the abd HP:0011472 Abnormality of small intestinal villus morphologyAbnormality of the abd HP:0001438 Abnormality of the abdomenAbnormality of the abd HP:0010991 Abnormality of the abdominal musculatureAbnormality of the abd HP:0002012 Abnormality of the abdominal organsAbnormality of the abd HP:0004298 Abnormality of the abdominal wallAbnormality of the abd HP:0004378 Abnormality of the anusAbnormality of the abd HP:0004297 Abnormality of the biliary systemAbnormality of the abd HP:0000775 Abnormality of the diaphragmAbnormality of the abd HP:0100889 Abnormality of the ductus choledochusAbnormality of the abd HP:0002246 Abnormality of the duodenumAbnormality of the abd HP:0002031 Abnormality of the esophagusAbnormality of the abd HP:0005264 Abnormality of the gallbladderAbnormality of the abd HP:0004295 Abnormality of the gastric mucosaAbnormality of the abd HP:0011024 Abnormality of the gastrointestinal tractAbnormality of the abd HP:0006707 Abnormality of the hepatic vasculatureAbnormality of the abd HP:0001549 Abnormality of the ileumAbnormality of the abd HP:0002242 Abnormality of the intestineAbnormality of the abd HP:0011040 Abnormality of the intrahepatic bile ductAbnormality of the abd HP:0005265 Abnormality of the jejunumAbnormality of the abd HP:0002250 Abnormality of the large intestineAbnormality of the abd HP:0001392 Abnormality of the liverAbnormality of the abd HP:0100016 Abnormality of the mesenteryAbnormality of the abd HP:0001732 Abnormality of the pancreasAbnormality of the abd HP:0006476 Abnormality of the pancreatic islet cellsAbnormality of the abd HP:0002585 Abnormality of the peritoneumAbnormality of the abd HP:0004400 Abnormality of the pylorusAbnormality of the abd HP:0002034 Abnormality of the rectumAbnormality of the abd HP:0002244 Abnormality of the small intestineAbnormality of the abd HP:0001743 Abnormality of the spleenAbnormality of the abd HP:0002577 Abnormality of the stomachAbnormality of the abd HP:0001551 Abnormality of the umbilicusAbnormality of the abd HP:0005219 Absence of intrinsic factorAbnormality of the abd HP:0011467 Absent gallbladderAbnormality of the abd HP:0009112 Absent left hemidiaphragmAbnormality of the abd HP:0001747 Accessory spleenAbnormality of the abd HP:0002571 AchalasiaAbnormality of the abd HP:0011985 Acholic stoolsAbnormality of the abd HP:0100282 Acute colitisAbnormality of the abd HP:0012451 Acute constipationAbnormality of the abd HP:0011128 Acute esophageal necrosisAbnormality of the abd HP:0006554 Acute hepatic failureAbnormality of the abd HP:0006573 Acute hepatic steatosisAbnormality of the abd HP:0200119 Acute hepatitis

Abnormality of the abd HP:0001735 Acute pancreatitisAbnormality of the abd HP:0005227 Adenomatous colonic polyposisAbnormality of the abd HP:0008986 Agenesis of the diaphragmAbnormality of the abd HP:0012739 Agenesis of the small intestineAbnormality of the abd HP:0002023 Anal atresiaAbnormality of the abd HP:0006763 Anal canal squamous carcinomaAbnormality of the abd HP:0012390 Anal fissureAbnormality of the abd HP:0010447 Anal fistulaAbnormality of the abd HP:0005212 Anal mucosal leukoplakiaAbnormality of the abd HP:0002025 Anal stenosisAbnormality of the abd HP:0001734 Annular pancreasAbnormality of the abd HP:0005201 Anomalous splenoportal venous systemAbnormality of the abd HP:0012732 Anorectal anomalyAbnormality of the abd HP:0002039 AnorexiaAbnormality of the abd HP:0001545 Anteriorly placed anusAbnormality of the abd HP:0005199 Aplasia of the abdominal wall musculatureAbnormality of the abd HP:0010318 Aplasia/Hypoplasia of the abdominal wall muscAbnormality of the abd HP:0100811 Aplasia/Hypoplasia of the colonAbnormality of the abd HP:0010315 Aplasia/Hypoplasia of the diaphragmAbnormality of the abd HP:0011466 Aplasia/Hypoplasia of the gallbladderAbnormality of the abd HP:0100800 Aplasia/Hypoplasia of the pancreasAbnormality of the abd HP:0010451 Aplasia/Hypoplasia of the spleenAbnormality of the abd HP:0001541 AscitesAbnormality of the abd HP:0001746 AspleniaAbnormality of the abd HP:0011984 Atretic gallbladderAbnormality of the abd HP:0200122 Atypical or prolonged hepatitisAbnormality of the abd HP:0100580 Barrett esophagusAbnormality of the abd HP:0006719 Benign gastrointestinal tract tumorsAbnormality of the abd HP:0006279 Beta-cell dysfunctionAbnormality of the abd HP:0001408 Bile duct proliferationAbnormality of the abd HP:0005912 Biliary atresiaAbnormality of the abd HP:0002613 Biliary cirrhosisAbnormality of the abd HP:0012396 Biliary dyskinesiaAbnormality of the abd HP:0006560 Biliary hyperplasiaAbnormality of the abd HP:0001080 Biliary tract abnormalityAbnormality of the abd HP:0100574 Biliary tract neoplasmAbnormality of the abd HP:0005230 Biliary tract obstructionAbnormality of the abd HP:0005608 Bilobate gallbladderAbnormality of the abd HP:0011982 Black pigment gallstonesAbnormality of the abd HP:0005222 Bowel diverticulosisAbnormality of the abd HP:0002607 Bowel incontinenceAbnormality of the abd HP:0012701 Bowel urgencyAbnormality of the abd HP:0011983 Brown pigment gallstonesAbnormality of the abd HP:0002608 Celiac diseaseAbnormality of the abd HP:0001082 CholecystitisAbnormality of the abd HP:0001081 CholelithiasisAbnormality of the abd HP:0001396 CholestasisAbnormality of the abd HP:0002611 Cholestatic liver diseaseAbnormality of the abd HP:0011980 Cholesterol gallstonesAbnormality of the abd HP:0200120 Chronic active hepatitis

Abnormality of the abd HP:0002582 Chronic atrophic gastritisAbnormality of the abd HP:0005236 Chronic calcifying pancreatitisAbnormality of the abd HP:0100281 Chronic colitisAbnormality of the abd HP:0012450 Chronic constipationAbnormality of the abd HP:0002028 Chronic diarrheaAbnormality of the abd HP:0005231 Chronic gastritisAbnormality of the abd HP:0100626 Chronic hepatic failureAbnormality of the abd HP:0200123 Chronic hepatitisAbnormality of the abd HP:0200124 Chronic hepatitis due to cryptospridium infectionAbnormality of the abd HP:0006280 Chronic pancreatitisAbnormality of the abd HP:0012281 Chylous ascitesAbnormality of the abd HP:0001394 CirrhosisAbnormality of the abd HP:0002583 ColitisAbnormality of the abd HP:0003003 Colon cancerAbnormality of the abd HP:0010448 Colonic atresiaAbnormality of the abd HP:0002253 Colonic diverticulosisAbnormality of the abd HP:0012423 Colonic inertiaAbnormality of the abd HP:0012851 Colonic stenosisAbnormality of the abd HP:0012550 Colonic varicesAbnormality of the abd HP:0200063 Colorectal polypsAbnormality of the abd HP:0000776 Congenital diaphragmatic herniaAbnormality of the abd HP:0002612 Congenital hepatic fibrosisAbnormality of the abd HP:0004399 Congenital pyloric atresiaAbnormality of the abd HP:0002019 ConstipationAbnormality of the abd HP:0100280 Crohn's diseaseAbnormality of the abd HP:0100890 Cyst of the ductus choledochusAbnormality of the abd HP:0006706 Cystic liver diseaseAbnormality of the abd HP:0001410 Decreased liver functionAbnormality of the abd HP:0006558 Decreased mitochondrial complex III activity in lAbnormality of the abd HP:0005237 Degenerative liver diseaseAbnormality of the abd HP:0012381 Delayed self-feeding during toddler yearsAbnormality of the abd HP:0009109 Denervation of the diaphragmAbnormality of the abd HP:0006581 Depletion of mitochondrial DNA in liverAbnormality of the abd HP:0100245 Desmoid tumorsAbnormality of the abd HP:0009110 Diaphragmatic eventrationAbnormality of the abd HP:0006597 Diaphragmatic paralysisAbnormality of the abd HP:0009113 Diaphragmatic weaknessAbnormality of the abd HP:0002014 DiarrheaAbnormality of the abd HP:0001540 Diastasis rectiAbnormality of the abd HP:0006555 Diffuse hepatic steatosisAbnormality of the abd HP:0005238 Discrete intestinal polypsAbnormality of the abd HP:0200116 Distal ileal atresiaAbnormality of the abd HP:0002247 Duodenal atresiaAbnormality of the abd HP:0012414 Duodenal atrophyAbnormality of the abd HP:0006771 Duodenal carcinomaAbnormality of the abd HP:0004800 Duodenal diverticulaAbnormality of the abd HP:0004783 Duodenal polyposisAbnormality of the abd HP:0100867 Duodenal stenosisAbnormality of the abd HP:0002588 Duodenal ulcerAbnormality of the abd HP:0005223 Duplicated colon

Abnormality of the abd HP:0005217 Duplication of internal organsAbnormality of the abd HP:0010452 Ectopia of the spleenAbnormality of the abd HP:0004397 Ectopic anusAbnormality of the abd HP:0006278 Ectopic pancreatic tissueAbnormality of the abd HP:0002910 Elevated hepatic transaminasesAbnormality of the abd HP:0008150 Elevated serum transaminases during infectionAbnormality of the abd HP:0004387 EnterocolitisAbnormality of the abd HP:0001412 Enteroviral hepatitisAbnormality of the abd HP:0002574 Episodic abdominal painAbnormality of the abd HP:0002572 Episodic vomitingAbnormality of the abd HP:0002032 Esophageal atresiaAbnormality of the abd HP:0011459 Esophageal carcinomaAbnormality of the abd HP:0100628 Esophageal diverticulumAbnormality of the abd HP:0100681 Esophageal duplicationAbnormality of the abd HP:0012859 Esophageal leukoplakiaAbnormality of the abd HP:0100751 Esophageal neoplasmAbnormality of the abd HP:0005240 Esophageal obstructionAbnormality of the abd HP:0010450 Esophageal stenosisAbnormality of the abd HP:0002043 Esophageal strictureAbnormality of the abd HP:0004791 Esophageal ulcerationAbnormality of the abd HP:0002040 Esophageal varixAbnormality of the abd HP:0100594 Esophageal webAbnormality of the abd HP:0100633 EsophagitisAbnormality of the abd HP:0001738 Exocrine pancreatic insufficiencyAbnormality of the abd HP:0100548 ExstrophyAbnormality of the abd HP:0005242 Extrahepatic biliary duct atresiaAbnormality of the abd HP:0012334 Extrahepatic cholestasisAbnormality of the abd HP:0004941 Extrahepatic portal hypertensionAbnormality of the abd HP:0002630 Fat malabsorptionAbnormality of the abd HP:0006583 Fatal liver failure in infancyAbnormality of the abd HP:0011968 Feeding difficultiesAbnormality of the abd HP:0008872 Feeding difficulties in infancyAbnormality of the abd HP:0100541 Femoral herniaAbnormality of the abd HP:0006564 Fluctuating hepatomegalyAbnormality of the abd HP:0006268 Fluctuating splenomegalyAbnormality of the abd HP:0005215 Frequent Giardia lamblia infestationAbnormality of the abd HP:0004448 Fulminant hepatic failureAbnormality of the abd HP:0004787 Fulminant hepatitisAbnormality of the abd HP:0012719 Functional abnormality of the gastrointestinal trAbnormality of the abd HP:0005249 Functional intestinal obstructionAbnormality of the abd HP:0005609 Gallbladder dysfunctionAbnormality of the abd HP:0012442 Gallbladder dyskinesiaAbnormality of the abd HP:0100808 Gastric diverticulumAbnormality of the abd HP:0011139 Gastric duplicationAbnormality of the abd HP:0005207 Gastric hypertrophyAbnormality of the abd HP:0002592 Gastric ulcerAbnormality of the abd HP:0005263 GastritisAbnormality of the abd HP:0002020 Gastroesophageal refluxAbnormality of the abd HP:0000471 Gastrointestinal angiodysplasiaAbnormality of the abd HP:0002629 Gastrointestinal arteriovenous malformation

Abnormality of the abd HP:0002589 Gastrointestinal atresiaAbnormality of the abd HP:0002672 Gastrointestinal carcinomaAbnormality of the abd HP:0011140 Gastrointestinal duplicationAbnormality of the abd HP:0002579 Gastrointestinal dysmotilityAbnormality of the abd HP:0002239 Gastrointestinal hemorrhageAbnormality of the abd HP:0005244 Gastrointestinal infarctionsAbnormality of the abd HP:0004386 Gastrointestinal inflammationAbnormality of the abd HP:0004796 Gastrointestinal obstructionAbnormality of the abd HP:0100723 Gastrointestinal stroma tumorAbnormality of the abd HP:0002604 Gastrointestinal telangiectasiaAbnormality of the abd HP:0002578 GastroparesisAbnormality of the abd HP:0001543 GastroschisisAbnormality of the abd HP:0011471 Gastrostomy tube feeding in infancyAbnormality of the abd HP:0200084 Giant cell hepatitisAbnormality of the abd HP:0005246 Giant hypertrophic gastritisAbnormality of the abd HP:0004390 Hamartomatous polypsAbnormality of the abd HP:0004795 Hamartomatous stomach polypsAbnormality of the abd HP:0005202 Helicobacter pylori infectionAbnormality of the abd HP:0002248 HematemesisAbnormality of the abd HP:0002573 HematocheziaAbnormality of the abd HP:0100762 HemobiliaAbnormality of the abd HP:0011854 HemoperitoneumAbnormality of the abd HP:0001400 Hepatic abscesses due to immunodeficiencyAbnormality of the abd HP:0100839 Hepatic agenesisAbnormality of the abd HP:0012280 Hepatic amyloidosisAbnormality of the abd HP:0006574 Hepatic arteriovenous malformationAbnormality of the abd HP:0012852 Hepatic bridging fibrosisAbnormality of the abd HP:0001407 Hepatic cystsAbnormality of the abd HP:0001399 Hepatic failureAbnormality of the abd HP:0001395 Hepatic fibrosisAbnormality of the abd HP:0011955 Hepatic granulomatosisAbnormality of the abd HP:0002605 Hepatic necrosisAbnormality of the abd HP:0002614 Hepatic periportal necrosisAbnormality of the abd HP:0001397 Hepatic steatosisAbnormality of the abd HP:0006576 Hepatic vascular malformationsAbnormality of the abd HP:0012115 HepatitisAbnormality of the abd HP:0002884 HepatoblastomaAbnormality of the abd HP:0012028 Hepatocellular adenomaAbnormality of the abd HP:0001402 Hepatocellular carcinomaAbnormality of the abd HP:0001404 Hepatocellular necrosisAbnormality of the abd HP:0002240 HepatomegalyAbnormality of the abd HP:0001433 HepatosplenomegalyAbnormality of the abd HP:0006716 Hereditary nonpolyposis colorectal carcinomaAbnormality of the abd HP:0004299 Hernia of the abdominal wallAbnormality of the abd HP:0002036 Hiatus herniaAbnormality of the abd HP:0005250 High intestinal obstructionAbnormality of the abd HP:0006276 Hyperechogenic pancreasAbnormality of the abd HP:0100770 HyperperistalsisAbnormality of the abd HP:0012183 Hyperplastic colonic polyposisAbnormality of the abd HP:0001971 Hypersplenism

Abnormality of the abd HP:0100771 HypoperistalsisAbnormality of the abd HP:0005247 Hypoplasia of the abdominal wall musculatureAbnormality of the abd HP:0005233 Hypoplasia of the gallbladderAbnormality of the abd HP:0004790 Hypoplasia of the small intestineAbnormality of the abd HP:0005210 Hypoplastic colonAbnormality of the abd HP:0006270 Hypoplastic spleenAbnormality of the abd HP:0011102 Ileal atresiaAbnormality of the abd HP:0002595 IleusAbnormality of the abd HP:0004872 Incisional herniaAbnormality of the abd HP:0006568 Increased hepatic glycogen contentAbnormality of the abd HP:0006565 Increased hepatocellular lipid dropletsAbnormality of the abd HP:0002037 Inflammation of the large intestineAbnormality of the abd HP:0000023 Inguinal herniaAbnormality of the abd HP:0002254 Intermittent diarrheaAbnormality of the abd HP:0001046 Intermittent jaundiceAbnormality of the abd HP:0011100 Intestinal atresiaAbnormality of the abd HP:0002584 Intestinal bleedingAbnormality of the abd HP:0100668 Intestinal duplicationAbnormality of the abd HP:0005225 Intestinal edemaAbnormality of the abd HP:0100819 Intestinal fistulaAbnormality of the abd HP:0005245 Intestinal hypoplasiaAbnormality of the abd HP:0002593 Intestinal lymphangiectasiaAbnormality of the abd HP:0004788 Intestinal lymphedemaAbnormality of the abd HP:0011956 Intestinal lymphoid nodular hyperplasiaAbnormality of the abd HP:0002566 Intestinal malrotationAbnormality of the abd HP:0005214 Intestinal obstructionAbnormality of the abd HP:0005266 Intestinal polypAbnormality of the abd HP:0200008 Intestinal polyposisAbnormality of the abd HP:0004389 Intestinal pseudo-obstructionAbnormality of the abd HP:0002041 Intractable diarrheaAbnormality of the abd HP:0005209 Intrahepatic bile duct cystsAbnormality of the abd HP:0005248 Intrahepatic biliary atresiaAbnormality of the abd HP:0001401 Intrahepatic biliary dysgenesisAbnormality of the abd HP:0001406 Intrahepatic cholestasisAbnormality of the abd HP:0006575 Intrahepatic cholestasis with episodic jaundiceAbnormality of the abd HP:0002576 IntussusceptionAbnormality of the abd HP:0000952 JaundiceAbnormality of the abd HP:0005235 Jejunal atresiaAbnormality of the abd HP:0004786 Jejunal diverticulaAbnormality of the abd HP:0004799 Jejunoileal diverticulaAbnormality of the abd HP:0005229 Jejunoileal ulcerationAbnormality of the abd HP:0012198 Juvenile colonic polyposisAbnormality of the abd HP:0004784 Juvenile gastrointestinal polyposisAbnormality of the abd HP:0004789 Lactose intoleranceAbnormality of the abd HP:0006561 Lipid accumulation in hepatocytesAbnormality of the abd HP:0100523 Liver abscessAbnormality of the abd HP:0006577 Macronodular cirrhosisAbnormality of the abd HP:0001403 Macrovesicular hepatic steatosisAbnormality of the abd HP:0002024 MalabsorptionAbnormality of the abd HP:0006563 Malformation of the hepatic ductal plate

Abnormality of the abd HP:0006749 Malignant gastrointestinal tract tumorsAbnormality of the abd HP:0004395 MalnutritionAbnormality of the abd HP:0100802 Malposition of the stomachAbnormality of the abd HP:0004785 Malrotation of colonAbnormality of the abd HP:0004794 Malrotation of small bowelAbnormality of the abd HP:0010676 Mechanical ileusAbnormality of the abd HP:0002245 Meckel diverticulumAbnormality of the abd HP:0004401 Meconium ileusAbnormality of the abd HP:0002249 MelenaAbnormality of the abd HP:0004388 MicrocolonAbnormality of the abd HP:0100841 MicrogastriaAbnormality of the abd HP:0001413 Micronodular cirrhosisAbnormality of the abd HP:0001414 Microvesicular hepatic steatosisAbnormality of the abd HP:0005211 Midgut malrotationAbnormality of the abd HP:0011005 Mixed cirrhosisAbnormality of the abd HP:0012718 Morphological abnormality of the gastrointestinaAbnormality of the abd HP:0004394 Multiple gastric polypsAbnormality of the abd HP:0004797 Multiple small bowel atresiasAbnormality of the abd HP:0011469 Nasal regurgitationAbnormality of the abd HP:0011470 Nasogastric tube feeding in infancyAbnormality of the abd HP:0002018 NauseaAbnormality of the abd HP:0002017 Nausea and vomitingAbnormality of the abd HP:0006566 Neonatal cholestatic liver diseaseAbnormality of the abd HP:0005234 Neonatal intestinal obstructionAbnormality of the abd HP:0100273 Neoplasm of the colonAbnormality of the abd HP:0100575 Neoplasm of the gallbladderAbnormality of the abd HP:0007378 Neoplasm of the gastrointestinal tractAbnormality of the abd HP:0100834 Neoplasm of the large intestineAbnormality of the abd HP:0002896 Neoplasm of the liverAbnormality of the abd HP:0002894 Neoplasm of the pancreasAbnormality of the abd HP:0100743 Neoplasm of the rectumAbnormality of the abd HP:0100833 Neoplasm of the small intestineAbnormality of the abd HP:0006753 Neoplasm of the stomachAbnormality of the abd HP:0011954 Nodular regenerative hyperplasia of liverAbnormality of the abd HP:0001539 OmphaloceleAbnormality of the abd HP:0006725 Pancreatic adenocarcinomaAbnormality of the abd HP:0100801 Pancreatic aplasiaAbnormality of the abd HP:0001737 Pancreatic cystsAbnormality of the abd HP:0005232 Pancreatic dysplasiaAbnormality of the abd HP:0100732 Pancreatic fibrosisAbnormality of the abd HP:0100844 Pancreatic fistulaAbnormality of the abd HP:0006277 Pancreatic hyperplasiaAbnormality of the abd HP:0002594 Pancreatic hypoplasiaAbnormality of the abd HP:0004510 Pancreatic islet-cell hyperplasiaAbnormality of the abd HP:0006273 Pancreatic lymphangiectasisAbnormality of the abd HP:0005206 Pancreatic pseudocystAbnormality of the abd HP:0012142 Pancreatic squamous cell carcinomaAbnormality of the abd HP:0001733 PancreatitisAbnormality of the abd HP:0100757 PancreatoblastomaAbnormality of the abd HP:0002590 Paralytic ileus

Abnormality of the abd HP:0005243 Partial abdominal muscle agenesisAbnormality of the abd HP:0004398 Peptic ulcerAbnormality of the abd HP:0009789 Perianal abscessAbnormality of the abd HP:0011131 Perianal rashAbnormality of the abd HP:0001405 Periportal fibrosisAbnormality of the abd HP:0100592 Peritoneal abscessAbnormality of the abd HP:0100003 Peritoneal mesotheliomaAbnormality of the abd HP:0002586 PeritonitisAbnormality of the abd HP:0011981 Pigment gallstonesAbnormality of the abd HP:0006557 Polycystic liver diseaseAbnormality of the abd HP:0001748 PolyspleniaAbnormality of the abd HP:0004396 Poor appetiteAbnormality of the abd HP:0002033 Poor suckAbnormality of the abd HP:0006580 Portal fibrosisAbnormality of the abd HP:0001409 Portal hypertensionAbnormality of the abd HP:0012890 Posteriorly placed anusAbnormality of the abd HP:0002587 Projectile vomitingAbnormality of the abd HP:0006579 Prolonged neonatal jaundiceAbnormality of the abd HP:0001544 Prominent umbilicusAbnormality of the abd HP:0002038 Protein avoidanceAbnormality of the abd HP:0002243 Protein-losing enteropathyAbnormality of the abd HP:0004385 Protracted diarrheaAbnormality of the abd HP:0001538 Protuberant abdomenAbnormality of the abd HP:0004403 Proximal esophageal atresiaAbnormality of the abd HP:0004392 Prune bellyAbnormality of the abd HP:0002021 Pyloric stenosisAbnormality of the abd HP:0005224 Rectal abscessAbnormality of the abd HP:0100896 Rectal polyposisAbnormality of the abd HP:0002035 Rectal prolapseAbnormality of the abd HP:0004798 Recurrent infection of the gastrointestinal tractAbnormality of the abd HP:0100027 Recurrent pancreatitisAbnormality of the abd HP:0100247 Recurrent singultusAbnormality of the abd HP:0006571 Reduced number of intrahepatic bile ductsAbnormality of the abd HP:0006274 Reduced pancreatic beta cellsAbnormality of the abd HP:0005200 Retroperitoneal fibrosisAbnormality of the abd HP:0006582 Reye syndrome-like episodesAbnormality of the abd HP:0005208 Secretory diarrheaAbnormality of the abd HP:0001696 Situs inversus totalisAbnormality of the abd HP:0002256 Small bowel diverticulaAbnormality of the abd HP:0012849 Small intestinal bleedingAbnormality of the abd HP:0012850 Small intestinal dysmotilityAbnormality of the abd HP:0012737 Small intestinal polypAbnormality of the abd HP:0012848 Small intestinal stenosisAbnormality of the abd HP:0012441 Sphincter of Oddi dyskinesiaAbnormality of the abd HP:0012223 Splenic ruptureAbnormality of the abd HP:0001744 SplenomegalyAbnormality of the abd HP:0005203 Spontaneous esophageal perforationAbnormality of the abd HP:0002570 SteatorrheaAbnormality of the abd HP:0012425 Stercoral ulcerAbnormality of the abd HP:0012126 Stomach cancer

Abnormality of the abd HP:0006572 Subacute progressive viral hepatitisAbnormality of the abd HP:0009799 Supernumerary spleensAbnormality of the abd HP:0012702 TenesmusAbnormality of the abd HP:0002575 Tracheoesophageal fistulaAbnormality of the abd HP:0100279 Ulcerative colitisAbnormality of the abd HP:0001537 Umbilical herniaAbnormality of the abd HP:0002933 Ventral herniaAbnormality of the abd HP:0011473 Villous atrophyAbnormality of the abd HP:0006562 Viral hepatitisAbnormality of the abd HP:0003271 VisceromegalyAbnormality of the abd HP:0002580 VolvulusAbnormality of the abd HP:0002013 VomitingAbnormality of the abd HP:0002044 Zollinger-Ellison syndrome

Growth abnormalityGrowth abnormality HP:0012743 Abdominal obesityGrowth abnormality HP:0012772 Abnormal upper to lower segment ratioGrowth abnormality HP:0000002 Abnormality of body heightGrowth abnormality HP:0004323 Abnormality of body weightGrowth abnormality HP:0100555 Asymmetric growthGrowth abnormality HP:0008929 Asymmetric short statureGrowth abnormality HP:0003517 Birth length greater than 97th percentileGrowth abnormality HP:0003561 Birth length less than 3rd percentileGrowth abnormality HP:0004326 CachexiaGrowth abnormality HP:0011405 Childhood onset short-limb short statureGrowth abnormality HP:0008915 Childhood-onset truncal obesityGrowth abnormality HP:0004325 Decreased body weightGrowth abnormality HP:0003498 Disproportionate short statureGrowth abnormality HP:0008873 Disproportionate short-limb short statureGrowth abnormality HP:0001519 Disproportionate tall statureGrowth abnormality HP:0003782 Eunuchoid habitusGrowth abnormality HP:0001508 Failure to thriveGrowth abnormality HP:0001531 Failure to thrive in infancyGrowth abnormality HP:0001507 Growth abnormalityGrowth abnormality HP:0001510 Growth delayGrowth abnormality HP:0004324 Increased body weightGrowth abnormality HP:0012774 Increased upper to lower segment ratioGrowth abnormality HP:0001511 Intrauterine growth retardationGrowth abnormality HP:0001520 Large for gestational ageGrowth abnormality HP:0008909 Lethal short-limbed short statureGrowth abnormality HP:0008845 Mesomelic short statureGrowth abnormality HP:0008883 Mild intrauterine growth retardationGrowth abnormality HP:0001530 Mild postnatal growth retardationGrowth abnormality HP:0003502 Mild short statureGrowth abnormality HP:0011408 Moderate intrauterine growth retardationGrowth abnormality HP:0008855 Moderate postnatal growth retardationGrowth abnormality HP:0008848 Moderately short statureGrowth abnormality HP:0008921 Neonatal short-limb short statureGrowth abnormality HP:0001513 ObesityGrowth abnormality HP:0001548 OvergrowthGrowth abnormality HP:0008897 Postnatal growth retardation

Growth abnormality HP:0003508 Proportionate short statureGrowth abnormality HP:0011407 Proportionate tall statureGrowth abnormality HP:0012773 Reduced upper to lower segment ratioGrowth abnormality HP:0001525 Severe failure to thriveGrowth abnormality HP:0008846 Severe intrauterine growth retardationGrowth abnormality HP:0008850 Severe postnatal growth retardationGrowth abnormality HP:0003510 Severe short statureGrowth abnormality HP:0008890 Severe short-limb dwarfismGrowth abnormality HP:0004322 Short statureGrowth abnormality HP:0001533 Slender buildGrowth abnormality HP:0001518 Small for gestational ageGrowth abnormality HP:0000098 Tall statureGrowth abnormality HP:0001956 Truncal obesityGrowth abnormality HP:0001824 Weight loss

Abnormality of the integumentAbnormality of the inte HP:0007384 Aberrant melanosome maturationAbnormality of the inte HP:0008066 Abnormal blistering of the skinAbnormality of the inte HP:0007477 Abnormal dermatoglyphicsAbnormality of the inte HP:0010647 Abnormal elasticity of skinAbnormality of the inte HP:0003328 Abnormal hair laboratory examinationAbnormality of the inte HP:0010720 Abnormal hair patternAbnormality of the inte HP:0011362 Abnormal hair quantityAbnormality of the inte HP:0010721 Abnormal hair whorlAbnormality of the inte HP:0010813 Abnormal number of hair whorlsAbnormality of the inte HP:0010506 Abnormal plantar dermatoglyphicsAbnormality of the inte HP:0010814 Abnormal position of hair whorlAbnormality of the inte HP:0007552 Abnormal subcutaneous fat tissue distributionAbnormality of the inte HP:0011125 Abnormality of dermal melanosomesAbnormality of the inte HP:0011124 Abnormality of epidermal morphologyAbnormality of the inte HP:0011357 Abnormality of hair densityAbnormality of the inte HP:0011363 Abnormality of hair growth rateAbnormality of the inte HP:0009887 Abnormality of hair pigmentationAbnormality of the inte HP:0010719 Abnormality of hair textureAbnormality of the inte HP:0100643 Abnormality of nail colorAbnormality of the inte HP:0009888 Abnormality of secondary sexual hairAbnormality of the inte HP:0011138 Abnormality of skin adnexaAbnormality of the inte HP:0011121 Abnormality of skin morphologyAbnormality of the inte HP:0011122 Abnormality of skin physiologyAbnormality of the inte HP:0001000 Abnormality of skin pigmentationAbnormality of the inte HP:0001001 Abnormality of subcutaneous fat tissueAbnormality of the inte HP:0100134 Abnormality of the axillary hairAbnormality of the inte HP:0001231 Abnormality of the fingernailsAbnormality of the inte HP:0001595 Abnormality of the hairAbnormality of the inte HP:0001574 Abnormality of the integumentAbnormality of the inte HP:0001597 Abnormality of the nailAbnormality of the inte HP:0100803 Abnormality of the periungual regionAbnormality of the inte HP:0100872 Abnormality of the plantar skin of footAbnormality of the inte HP:0100133 Abnormality of the pubic hairAbnormality of the inte HP:0000951 Abnormality of the skinAbnormality of the inte HP:0009723 Abnormality of the subungual region

Abnormality of the inte HP:0000971 Abnormality of the sweat glandAbnormality of the inte HP:0008388 Abnormality of the toenailAbnormality of the inte HP:0008067 Abnormally lax or hyperextensible skinAbnormality of the inte HP:0002221 Absent axillary hairAbnormality of the inte HP:0002550 Absent facial hairAbnormality of the inte HP:0200104 Absent fifth fingernailAbnormality of the inte HP:0200105 Absent fifth toenailAbnormality of the inte HP:0001817 Absent fingernailAbnormality of the inte HP:0002298 Absent hairAbnormality of the inte HP:0012555 Absent nail of halluxAbnormality of the inte HP:0012319 Absent pigmentation of the abdomenAbnormality of the inte HP:0012320 Absent pigmentation of the limbsAbnormality of the inte HP:0007542 Absent pigmentation of the ventral chestAbnormality of the inte HP:0002555 Absent pubic hairAbnormality of the inte HP:0200098 Absent skin pigmentationAbnormality of the inte HP:0012554 Absent thumbnailAbnormality of the inte HP:0001802 Absent toenailAbnormality of the inte HP:0100792 AcantholysisAbnormality of the inte HP:0000956 Acanthosis nigricansAbnormality of the inte HP:0001008 Accumulation of melanosomes in melanocytesAbnormality of the inte HP:0001061 AcneAbnormality of the inte HP:0011360 Acquired abnormal hair patternAbnormality of the inte HP:0012060 Acral lentiginous melanomaAbnormality of the inte HP:0001063 AcrocyanosisAbnormality of the inte HP:0200016 AcrokeratosisAbnormality of the inte HP:0007455 AdermatoglyphiaAbnormality of the inte HP:0008509 Aged leonine appearanceAbnormality of the inte HP:0001022 AlbinismAbnormality of the inte HP:0001596 AlopeciaAbnormality of the inte HP:0002229 Alopecia areataAbnormality of the inte HP:0007418 Alopecia totalisAbnormality of the inte HP:0002289 Alopecia universalisAbnormality of the inte HP:0200144 Anaphylactoid purpuraAbnormality of the inte HP:0001017 Anemic pallorAbnormality of the inte HP:0100665 AngioedemaAbnormality of the inte HP:0001014 AngiokeratomaAbnormality of the inte HP:0001071 Angiokeratoma corporis diffusumAbnormality of the inte HP:0000970 AnhidrosisAbnormality of the inte HP:0007476 Anhidrotic ectodermal dysplasiaAbnormality of the inte HP:0001798 AnonychiaAbnormality of the inte HP:0004535 Anterior cervical hypertrichosisAbnormality of the inte HP:0001057 Aplasia cutis congenitaAbnormality of the inte HP:0007536 Aplasia cutis congenita of midline scalp vertexAbnormality of the inte HP:0007385 Aplasia cutis congenita of scalpAbnormality of the inte HP:0007589 Aplasia cutis congenita on trunk or limbsAbnormality of the inte HP:0004476 Aplasia cutis congenita over parietal areaAbnormality of the inte HP:0007590 Aplasia cutis congenita over posterior parietal areaAbnormality of the inte HP:0004471 Aplasia cutis congenita over the scalp vertexAbnormality of the inte HP:0011136 Aplasia of the sweat glandsAbnormality of the inte HP:0008386 Aplasia/Hypoplasia of the nails

Abnormality of the inte HP:0008065 Aplasia/Hypoplasia of the skinAbnormality of the inte HP:0011135 Aplasia/Hypoplasia of the sweat glandsAbnormality of the inte HP:0007592 Aplasia/Hypoplastia of the eccrine sweat glandAbnormality of the inte HP:0010624 Aplastic/hypoplastic toenailAbnormality of the inte HP:0007402 Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko linesAbnormality of the inte HP:0007398 Asymmetric, linear skin defectsAbnormality of the inte HP:0001039 Atheroeruptive xanthomaAbnormality of the inte HP:0001047 Atopic dermatitisAbnormality of the inte HP:0001075 Atrophic scarsAbnormality of the inte HP:0004529 Atrophic, patchy alopeciaAbnormality of the inte HP:0001062 Atypical nevi (>5mm with irregular edge and pigmentation)Abnormality of the inte HP:0001074 Atypical nevi in non-sun exposed areasAbnormality of the inte HP:0000987 Atypical scarring of skinAbnormality of the inte HP:0007471 Axillary and groin hyperpigmentation and hypopigmentationAbnormality of the inte HP:0007397 Axillary apocrine gland hypoplasiaAbnormality of the inte HP:0012540 Axillary epidermoid cystAbnormality of the inte HP:0000997 Axillary frecklingAbnormality of the inte HP:0002671 Basal cell carcinomaAbnormality of the inte HP:0010793 Bifid nailAbnormality of the inte HP:0007610 Blotching pigmentation of the skinAbnormality of the inte HP:0100814 Blue nevusAbnormality of the inte HP:0002299 Brittle hairAbnormality of the inte HP:0004779 Brittle scalp hairAbnormality of the inte HP:0001821 Broad nailAbnormality of the inte HP:0000978 Bruising susceptibilityAbnormality of the inte HP:0000957 Cafe-au-lait spotAbnormality of the inte HP:0011132 Chronic furunculosisAbnormality of the inte HP:0005411 Chronic intestinal candidiasisAbnormality of the inte HP:0008396 Chronic monilial nail infectionAbnormality of the inte HP:0002728 Chronic mucocutaneous candidiasisAbnormality of the inte HP:0009098 Chronic oral candidiasisAbnormality of the inte HP:0001073 Cigarette-paper scarsAbnormality of the inte HP:0008399 Circumungual hyperkeratosisAbnormality of the inte HP:0002208 Coarse hairAbnormality of the inte HP:0001598 Concave nailAbnormality of the inte HP:0007554 Confetti hypopigmentation pattern of lower leg skinAbnormality of the inte HP:0007449 Confetti-like hypopigmented maculesAbnormality of the inte HP:0011361 Congenital abnormal hair patternAbnormality of the inte HP:0007506 Congenital absence of skin of limbsAbnormality of the inte HP:0005597 Congenital alopecia totalisAbnormality of the inte HP:0007475 Congenital bullous ichthyosiform erythrodermaAbnormality of the inte HP:0008393 Congenital curved nail of fourth toeAbnormality of the inte HP:0007381 Congenital exfoliative erythrodermaAbnormality of the inte HP:0005600 Congenital giant melanocytic nevusAbnormality of the inte HP:0007431 Congenital ichthyosiform erythrodermaAbnormality of the inte HP:0007383 Congenital localized absence of skinAbnormality of the inte HP:0007479 Congenital nonbullous ichthyosiform erythrodeAbnormality of the inte HP:0008394 Congenital onychodystrophyAbnormality of the inte HP:0007597 Congenital palmoplantar keratodermiaAbnormality of the inte HP:0007534 Congenital posterior occipital alopecia

Abnormality of the inte HP:0004540 Congenital, generalized hypertrichosisAbnormality of the inte HP:0100898 Connective tissue neviAbnormality of the inte HP:0011303 Convex contour of soleAbnormality of the inte HP:0007473 Crusting erythematous dermatitisAbnormality of the inte HP:0002212 Curly hairAbnormality of the inte HP:0006773 Cutaneous angiolipomasAbnormality of the inte HP:0007620 Cutaneous leiomyomaAbnormality of the inte HP:0006755 Cutaneous leiomyosarcomaAbnormality of the inte HP:0200151 Cutaneous mastocytosisAbnormality of the inte HP:0012056 Cutaneous melanomaAbnormality of the inte HP:0000992 Cutaneous photosensitivityAbnormality of the inte HP:0000973 Cutis laxaAbnormality of the inte HP:0000965 Cutis marmorataAbnormality of the inte HP:0000961 CyanosisAbnormality of the inte HP:0200048 Cyanotic episodeAbnormality of the inte HP:0007500 Decreased number of sweat glandsAbnormality of the inte HP:0001002 Decreased subcutaneous fatAbnormality of the inte HP:0007480 Decreased sweating due to autonomic dysfunctionAbnormality of the inte HP:0004681 Deep longitudinal plantar creaseAbnormality of the inte HP:0001869 Deep plantar creasesAbnormality of the inte HP:0001814 Deep-set nailsAbnormality of the inte HP:0007483 Depigmentation/hyperpigmentation of skinAbnormality of the inte HP:0004334 Dermal atrophyAbnormality of the inte HP:0010648 Dermal translucencyAbnormality of the inte HP:0011971 Dermatographic urticariaAbnormality of the inte HP:0001005 Dermatological manifestations of systemic disordersAbnormality of the inte HP:0007549 Desquamation of skin soon after birthAbnormality of the inte HP:0001011 Diaphoresis (with pheochromocytoma)Abnormality of the inte HP:0007435 Diffuse palmoplantar keratodermaAbnormality of the inte HP:0007488 Diffuse skin atrophyAbnormality of the inte HP:0007504 Diffuse slow skin atrophyAbnormality of the inte HP:0007489 Diffuse telangiectasiaAbnormality of the inte HP:0007417 Discoid lupus erythematosusAbnormality of the inte HP:0007494 Discrete 2 to 5-mm hyper- and hypopigmented maculesAbnormality of the inte HP:0011359 Dry hairAbnormality of the inte HP:0000958 Dry skinAbnormality of the inte HP:0008391 Dystrophic fingernailsAbnormality of the inte HP:0001810 Dystrophic toenailAbnormality of the inte HP:0002234 Early baldingAbnormality of the inte HP:0007396 Early cutaneous photosensitivityAbnormality of the inte HP:0000968 Ectodermal dysplasiaAbnormality of the inte HP:0000964 EczemaAbnormality of the inte HP:0000976 Eczematoid dermatitisAbnormality of the inte HP:0004780 Elbow hypertrichosisAbnormality of the inte HP:0007543 Epidermal hyperkeratosisAbnormality of the inte HP:0010816 Epidermal nevusAbnormality of the inte HP:0011368 Epidermal thickeningAbnormality of the inte HP:0200040 Epidermoid cystAbnormality of the inte HP:0001069 Episodic hyperhidrosisAbnormality of the inte HP:0001013 Eruptive xanthomas

Abnormality of the inte HP:0001055 ErysipelasAbnormality of the inte HP:0010783 ErythemaAbnormality of the inte HP:0012219 Erythema nodosumAbnormality of the inte HP:0001019 ErythrodermaAbnormality of the inte HP:0007407 Excessive skin wrinkling on dorsum of hands and fingersAbnormality of the inte HP:0007392 Excessive wrinkled skinAbnormality of the inte HP:0007605 Excessive wrinkling of palmar skinAbnormality of the inte HP:0001041 Facial erythemaAbnormality of the inte HP:0001033 Facial flushing after alcohol intakeAbnormality of the inte HP:0009937 Facial hirsutismAbnormality of the inte HP:0002219 Facial hypertrichosisAbnormality of the inte HP:0007380 Facial telangiectasiaAbnormality of the inte HP:0005598 Facial telangiectasia in butterfly midface distribAbnormality of the inte HP:0009762 Facial wrinklingAbnormality of the inte HP:0002286 Fair hairAbnormality of the inte HP:0007429 Few cafe-au-lait spotsAbnormality of the inte HP:0002213 Fine hairAbnormality of the inte HP:0007617 Fine, reticulate skin pigmentationAbnormality of the inte HP:0100798 Fingernail dysplasiaAbnormality of the inte HP:0006107 Fingerpad telangiectasesAbnormality of the inte HP:0007453 Flexural lichenificationAbnormality of the inte HP:0007510 Focal dermal aplasia/hypoplasiaAbnormality of the inte HP:0007458 Focal hyperextensible skinAbnormality of the inte HP:0007502 Follicular hyperkeratosisAbnormality of the inte HP:0005336 Forehead hyperpigmentationAbnormality of the inte HP:0001808 Fragile nailsAbnormality of the inte HP:0001030 Fragile skinAbnormality of the inte HP:0007603 Freckles in sun-exposed areasAbnormality of the inte HP:0001480 FrecklingAbnormality of the inte HP:0002292 Frontal baldingAbnormality of the inte HP:0007541 Frontal cutaneous lipomaAbnormality of the inte HP:0002236 Frontal upsweep of hairAbnormality of the inte HP:0011312 Fused nailsAbnormality of the inte HP:0011354 Generalized abnormality of skinAbnormality of the inte HP:0007459 Generalized anhidrosisAbnormality of the inte HP:0007574 Generalized bronze hyperpigmentationAbnormality of the inte HP:0002230 Generalized hirsutismAbnormality of the inte HP:0005595 Generalized hyperkeratosisAbnormality of the inte HP:0007440 Generalized hyperpigmentationAbnormality of the inte HP:0004554 Generalized hypertrichosisAbnormality of the inte HP:0007513 Generalized hypopigmentationAbnormality of the inte HP:0011358 Generalized hypopigmentation of hairAbnormality of the inte HP:0004528 Generalized hypotrichosisAbnormality of the inte HP:0007503 Generalized ichthyosisAbnormality of the inte HP:0007439 Generalized keratosis follicularisAbnormality of the inte HP:0007482 Generalized papillary lesionsAbnormality of the inte HP:0007599 Generalized reticulate brown pigmentationAbnormality of the inte HP:0007569 Generalized seborrheic dermatitisAbnormality of the inte HP:0005592 Giant melanosomes in melanocytesAbnormality of the inte HP:0012843 Hair follicle neoplasm

Abnormality of the inte HP:0003329 Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axesAbnormality of the inte HP:0007436 Hair-nail ectodermal dysplasiaAbnormality of the inte HP:0007529 Hidrotic ectodermal dysplasiaAbnormality of the inte HP:0001007 HirsutismAbnormality of the inte HP:0007465 Honeycomb palmoplantar keratodermaAbnormality of the inte HP:0001812 Hyperconvex fingernailsAbnormality of the inte HP:0001795 Hyperconvex nailAbnormality of the inte HP:0008407 Hyperconvex thumb nailsAbnormality of the inte HP:0000974 Hyperextensible skinAbnormality of the inte HP:0011930 Hyperextensible skin of chestAbnormality of the inte HP:0007425 Hyperextensible skin of faceAbnormality of the inte HP:0000975 HyperhidrosisAbnormality of the inte HP:0000962 HyperkeratosisAbnormality of the inte HP:0007570 Hyperkeratosis lenticularis perstansAbnormality of the inte HP:0007448 Hyperkeratosis over edematous areasAbnormality of the inte HP:0007390 Hyperkeratosis with erythemaAbnormality of the inte HP:0001034 Hypermelanotic maculeAbnormality of the inte HP:0005586 Hyperpigmentation in sun-exposed areasAbnormality of the inte HP:0007406 Hyperpigmentation of eyelidsAbnormality of the inte HP:0000953 Hyperpigmentation of the skinAbnormality of the inte HP:0007481 Hyperpigmented neviAbnormality of the inte HP:0005606 Hyperpigmented nevi and streakAbnormality of the inte HP:0007572 Hyperpigmented streaksAbnormality of the inte HP:0007441 Hyperpigmented/hypopigmented maculesAbnormality of the inte HP:0000998 HypertrichosisAbnormality of the inte HP:0007403 Hypertrophy of skin of solesAbnormality of the inte HP:0000966 HypohidrosisAbnormality of the inte HP:0007550 Hypohidrosis/hyperhidrosisAbnormality of the inte HP:0007607 Hypohidrotic ectodermal dysplasiaAbnormality of the inte HP:0009719 Hypomelanotic maculesAbnormality of the inte HP:0005599 Hypopigmentation of hairAbnormality of the inte HP:0001010 Hypopigmentation of the skinAbnormality of the inte HP:0001053 Hypopigmented skin patchesAbnormality of the inte HP:0007526 Hypopigmented skin patches on armsAbnormality of the inte HP:0007535 Hypopigmented streaksAbnormality of the inte HP:0008398 Hypoplastic fifth fingernailAbnormality of the inte HP:0011937 Hypoplastic fifth toenailAbnormality of the inte HP:0001804 Hypoplastic fingernailAbnormality of the inte HP:0007515 Hypoplastic pilosebaceous unitsAbnormality of the inte HP:0007387 Hypoplastic sweat glandsAbnormality of the inte HP:0012553 Hypoplastic thumbnailAbnormality of the inte HP:0001800 Hypoplastic toenailsAbnormality of the inte HP:0007411 Hypoplastic-absent sebaceous glandsAbnormality of the inte HP:0001006 HypotrichosisAbnormality of the inte HP:0004782 Hypotrichosis of the scalpAbnormality of the inte HP:0008064 IchthyosisAbnormality of the inte HP:0007450 Increased groin pigmentation with raindrop depigmentationAbnormality of the inte HP:0007522 Increased number of skin foldsAbnormality of the inte HP:0011123 Inflammatory abnormality of the skinAbnormality of the inte HP:0012710 Ingrown nail

Abnormality of the inte HP:0100888 Interdigital loopsAbnormality of the inte HP:0007432 Intermittent generalized erythematous papular rashAbnormality of the inte HP:0007451 Ipsilateral lack of facial sweatingAbnormality of the inte HP:0007400 Irregular hyperpigmentationAbnormality of the inte HP:0007521 Irregular hyperpigmentation of backAbnormality of the inte HP:0003341 Junctional splitAbnormality of the inte HP:0100726 Kaposi's sarcomaAbnormality of the inte HP:0010562 KeloidsAbnormality of the inte HP:0100679 Lack of skin elasticityAbnormality of the inte HP:0007519 Lack of subcutaneous fatty tissueAbnormality of the inte HP:0005605 Large cafe-au-lait macules with irregular margiAbnormality of the inte HP:0007573 Late onset atopic dermatitisAbnormality of the inte HP:0012059 Lentigo maligna melanomaAbnormality of the inte HP:0001820 LeukonychiaAbnormality of the inte HP:0100725 LichenificationAbnormality of the inte HP:0007490 Linear arrays of macular hyperkeratoses in flexural areasAbnormality of the inte HP:0007546 Linear hyperpigmentationAbnormality of the inte HP:0010817 Linear nevus sebaceousAbnormality of the inte HP:0007559 Localized epidermolytic hyperkeratosisAbnormality of the inte HP:0009889 Localized hirsutismAbnormality of the inte HP:0011355 Localized skin lesionAbnormality of the inte HP:0011913 Lumbar hypertrichosisAbnormality of the inte HP:0009747 Lumbosacral hirsutismAbnormality of the inte HP:0007412 Macular hyperpigmented dermopathyAbnormality of the inte HP:0005593 Macular hypopigmented whorls, streaks, and patchesAbnormality of the inte HP:0012733 MaculeAbnormality of the inte HP:0007581 Mediosternal, longitudinal streak of hypopigmentationAbnormality of the inte HP:0002220 Melanin pigment aggregation in hair shaftsAbnormality of the inte HP:0000995 Melanocytic nevusAbnormality of the inte HP:0100644 MelanonychiaAbnormality of the inte HP:0001056 MiliaAbnormality of the inte HP:0009123 Mixed hypo- and hyperpigmentation of the skinAbnormality of the inte HP:0000993 Molluscoid pseudotumorsAbnormality of the inte HP:0011369 Mongolian blue spotAbnormality of the inte HP:0012282 Morbilliform rashAbnormality of the inte HP:0012344 MorpheaAbnormality of the inte HP:0001070 Mottled pigmentationAbnormality of the inte HP:0007511 Mottled pigmentation of photoexposed areasAbnormality of the inte HP:0007438 Mottled pigmentation of the trunk and proximal extremitiesAbnormality of the inte HP:0100579 Mucosal telangiectasiaeAbnormality of the inte HP:0007565 Multiple cafe-au-lait spotsAbnormality of the inte HP:0007437 Multiple cutaneous leiomyomasAbnormality of the inte HP:0007606 Multiple cutaneous malignanciesAbnormality of the inte HP:0001003 Multiple lentiginesAbnormality of the inte HP:0008113 Multiple plantar creasesAbnormality of the inte HP:0012846 Multiple trichilemmomataAbnormality of the inte HP:0006769 Myxoid subcutaneous tumorsAbnormality of the inte HP:0001232 Nail bed telangiectasiaAbnormality of the inte HP:0002164 Nail dysplasiaAbnormality of the inte HP:0008404 Nail dystrophy

Abnormality of the inte HP:0001803 Nail pitsAbnormality of the inte HP:0011313 Narrow nailAbnormality of the inte HP:0007414 Neonatal wrinkled skin of hands and feetAbnormality of the inte HP:0100826 Neoplasm of the nailAbnormality of the inte HP:0008069 Neoplasm of the skinAbnormality of the inte HP:0003764 NevusAbnormality of the inte HP:0009920 Nevus of OtaAbnormality of the inte HP:0010815 Nevus sebaceousAbnormality of the inte HP:0012058 Nodular melanomaAbnormality of the inte HP:0011137 Non-pruritic urticariaAbnormality of the inte HP:0007404 Nonepidermolytic palmoplantar keratodermaAbnormality of the inte HP:0005603 Numerous congenital melanocytic neviAbnormality of the inte HP:0001054 Numerous neviAbnormality of the inte HP:0007587 Numerous pigmented frecklesAbnormality of the inte HP:0012542 OnychauxisAbnormality of the inte HP:0008401 Onychogryposis of toenailsAbnormality of the inte HP:0001806 OnycholysisAbnormality of the inte HP:0008400 Onycholysis of distal fingernailsAbnormality of the inte HP:0012182 Oropharyngeal squamous cell carcinomaAbnormality of the inte HP:0007596 Painful subcutaneous lipomasAbnormality of the inte HP:0000980 PallorAbnormality of the inte HP:0006089 Palmar hyperhidrosisAbnormality of the inte HP:0010765 Palmar hyperkeratosisAbnormality of the inte HP:0007410 Palmoplantar hyperhidrosisAbnormality of the inte HP:0000982 Palmoplantar keratodermaAbnormality of the inte HP:0100847 Palmoplantar pustulesAbnormality of the inte HP:0012740 PapillomaAbnormality of the inte HP:0200034 PapuleAbnormality of the inte HP:0001036 ParakeratosisAbnormality of the inte HP:0001818 ParonychiaAbnormality of the inte HP:0007443 Partial albinismAbnormality of the inte HP:0002232 Patchy alopeciaAbnormality of the inte HP:0007509 Patchy hypo- and hyperpigmentationAbnormality of the inte HP:0011365 Patchy hypopigmentation of hairAbnormality of the inte HP:0005588 Patchy palmoplantar keratodermaAbnormality of the inte HP:0001026 Penetrating foot ulcersAbnormality of the inte HP:0007470 Periarticular subcutaneous nodulesAbnormality of the inte HP:0007468 Perifollicular hyperkeratosisAbnormality of the inte HP:0012322 PerifolliculitisAbnormality of the inte HP:0011127 Perioral eczemaAbnormality of the inte HP:0000967 PetechiaeAbnormality of the inte HP:0007544 PiebaldismAbnormality of the inte HP:0007623 Pigmentation anomalies of sun-exposed skinAbnormality of the inte HP:0002235 Pili canaliculiAbnormality of the inte HP:0003777 Pili tortiAbnormality of the inte HP:0008107 Plantar crease between first and second toesAbnormality of the inte HP:0007556 Plantar hyperkeratosisAbnormality of the inte HP:0010612 Plantar pitsAbnormality of the inte HP:0100870 Plantar telangiectasiaAbnormality of the inte HP:0001050 Plethora

Abnormality of the inte HP:0001029 PoikilodermaAbnormality of the inte HP:0002290 PoliosisAbnormality of the inte HP:0001058 Poor wound healingAbnormality of the inte HP:0200044 PorokeratosisAbnormality of the inte HP:0007395 Postnatal-onset ichthyosiform erythrodermaAbnormality of the inte HP:0004771 Premature graying of body hairAbnormality of the inte HP:0002216 Premature graying of hairAbnormality of the inte HP:0100678 Premature skin wrinklingAbnormality of the inte HP:0007495 Prematurely aged appearanceAbnormality of the inte HP:0012399 Pressure ulcerAbnormality of the inte HP:0012221 Pretibial blisteringAbnormality of the inte HP:0200028 Pretibial myxedemaAbnormality of the inte HP:0005587 Profuse pigmented skin lesionsAbnormality of the inte HP:0005328 Progeroid facial appearanceAbnormality of the inte HP:0002287 Progressive alopeciaAbnormality of the inte HP:0007505 Progressive hyperpigmentationAbnormality of the inte HP:0002296 Progressive hypotrichosisAbnormality of the inte HP:0007456 Progressive reticulate hyperpigmentationAbnormality of the inte HP:0005602 Progressive vitiligoAbnormality of the inte HP:0011298 Prominent digit padAbnormality of the inte HP:0007394 Prominent superficial blood vesselsAbnormality of the inte HP:0000989 PruritusAbnormality of the inte HP:0003765 PsoriasisAbnormality of the inte HP:0002165 Pterygium formation (nails)Abnormality of the inte HP:0007508 Punctate palmar and solar hyperkeratosisAbnormality of the inte HP:0000979 PurpuraAbnormality of the inte HP:0200039 PustuleAbnormality of the inte HP:0000999 PyodermaAbnormality of the inte HP:0009758 Pyramidal skinfold extending from the base to thAbnormality of the inte HP:0005406 Recurrent bacterial skin infectionsAbnormality of the inte HP:0100838 Recurrent cutaneous abscess formationAbnormality of the inte HP:0011370 Recurrent cutaneous fungal infectionsAbnormality of the inte HP:0008390 Recurrent loss of toenails and fingernailsAbnormality of the inte HP:0001581 Recurrent skin infectionsAbnormality of the inte HP:0011371 Recurrent viral skin infectionsAbnormality of the inte HP:0012204 Recurrent vulvovaginal candidiasisAbnormality of the inte HP:0002297 Red hairAbnormality of the inte HP:0001582 Redundant skinAbnormality of the inte HP:0007595 Redundant skin in infancyAbnormality of the inte HP:0007516 Redundant skin on fingersAbnormality of the inte HP:0011356 Regional abnormality of skinAbnormality of the inte HP:0007588 Reticular hyperpigmentationAbnormality of the inte HP:0007427 Reticulated skin pigmentationAbnormality of the inte HP:0008402 Ridged fingernailAbnormality of the inte HP:0001807 Ridged nailAbnormality of the inte HP:0004532 Sacral hypertrichosisAbnormality of the inte HP:0200115 Scalp hair lossAbnormality of the inte HP:0011838 SclerodactylyAbnormality of the inte HP:0100324 SclerodermaAbnormality of the inte HP:0001051 Seborrheic dermatitis

Abnormality of the inte HP:0007537 Severe photosensitivityAbnormality of the inte HP:0009721 Shagreen patchAbnormality of the inte HP:0001799 Short nailAbnormality of the inte HP:0010782 Shoulder dimplesAbnormality of the inte HP:0002218 Silver-gray hairAbnormality of the inte HP:0012845 Single trichilemmomaAbnormality of the inte HP:0012842 Skin adnexal neoplasmAbnormality of the inte HP:0001024 Skin dimple over apex of long bone angulationAbnormality of the inte HP:0010781 Skin dimplesAbnormality of the inte HP:0200041 Skin erosionAbnormality of the inte HP:0007585 Skin fragility with non-scarring blisteringAbnormality of the inte HP:0200036 Skin noduleAbnormality of the inte HP:0100276 Skin pitsAbnormality of the inte HP:0200035 Skin plaqueAbnormality of the inte HP:0000988 Skin rashAbnormality of the inte HP:0010609 Skin tagsAbnormality of the inte HP:0200042 Skin ulcerAbnormality of the inte HP:0002217 Slow-growing hairAbnormality of the inte HP:0008383 Slow-growing nailsAbnormality of the inte HP:0001792 Small nailAbnormality of the inte HP:0000977 Soft skinAbnormality of the inte HP:0001027 Soft, doughy skinAbnormality of the inte HP:0002215 Sparse axillary hairAbnormality of the inte HP:0002231 Sparse body hairAbnormality of the inte HP:0007464 Sparse facial hairAbnormality of the inte HP:0008070 Sparse hairAbnormality of the inte HP:0002225 Sparse pubic hairAbnormality of the inte HP:0012522 Spider hemangiomaAbnormality of the inte HP:0001809 Split nailAbnormality of the inte HP:0007420 Spontaneous hematomasAbnormality of the inte HP:0005585 Spotty hyperpigmentationAbnormality of the inte HP:0005590 Spotty hypopigmentationAbnormality of the inte HP:0002860 Squamous cell carcinomaAbnormality of the inte HP:0006739 Squamous cell carcinoma of the skinAbnormality of the inte HP:0012035 Steatocystoma multiplexAbnormality of the inte HP:0007501 Streaks of hyperkeratosis along each finger onto the palmAbnormality of the inte HP:0001065 Striae distensaeAbnormality of the inte HP:0001933 Subcutaneous hemorrhageAbnormality of the inte HP:0001031 Subcutaneous lipomaAbnormality of the inte HP:0001482 Subcutaneous noduleAbnormality of the inte HP:0009724 Subungual fibromasAbnormality of the inte HP:0008392 Subungual hyperkeratosisAbnormality of the inte HP:0008410 Subungual hyperkeratotic fragmentsAbnormality of the inte HP:0012057 Superficial spreading melanomaAbnormality of the inte HP:0200015 Symmetric great toe depigmentationAbnormality of the inte HP:0007561 Telangiectases in sun-exposed and nonexposed skinAbnormality of the inte HP:0007421 Telangiectases of the cheeksAbnormality of the inte HP:0007586 Telangiectases producing 'marbled' skinAbnormality of the inte HP:0001009 TelangiectasiaAbnormality of the inte HP:0007583 Telangiectasia macularis eruptiva perstans

Abnormality of the inte HP:0007621 Telangiectasia of extensor surfacesAbnormality of the inte HP:0100585 Teleangiectasia of the skinAbnormality of the inte HP:0004524 Temporal hypotrichosisAbnormality of the inte HP:0100874 Thick hairAbnormality of the inte HP:0001805 Thick nailAbnormality of the inte HP:0001072 Thickened skinAbnormality of the inte HP:0012742 Thin fingernailAbnormality of the inte HP:0001816 Thin nailAbnormality of the inte HP:0000963 Thin skinAbnormality of the inte HP:0012746 Thin toenailAbnormality of the inte HP:0011914 Thoracic hypertrichosisAbnormality of the inte HP:0100797 Toenail dysplasiaAbnormality of the inte HP:0012844 TrichilemmomaAbnormality of the inte HP:0002552 TrichodysplasiaAbnormality of the inte HP:0009886 Trichorrhexis nodosaAbnormality of the inte HP:0100804 Ungual fibromaAbnormality of the inte HP:0001025 UrticariaAbnormality of the inte HP:0011276 Vascular skin abnormalityAbnormality of the inte HP:0200043 VerrucaeAbnormality of the inte HP:0012500 Verrucous papuleAbnormality of the inte HP:0001045 VitiligoAbnormality of the inte HP:0001038 Warfarin-induced skin necrosisAbnormality of the inte HP:0002211 White forelockAbnormality of the inte HP:0011364 White hairAbnormality of the inte HP:0002224 Woolly hairAbnormality of the inte HP:0000991 XanthomatosisAbnormality of the inte HP:0011367 Yellow nailsAbnormality of the inte HP:0007525 Yellow subcutaneous tissue covered by thin, scaly skinAbnormality of the inte HP:0004527 large clumps of pigment irregularly distributed along hair shaftAbnormality of the inte HP:0200037 skin vesicle

Abnormality of head and neckAbnormality of head and HP:0011224 AblepharonAbnormality of head and HP:0005346 Abnormal facial expressionAbnormality of head and HP:0001999 Abnormal facial shapeAbnormality of head and HP:0012808 Abnormal nasal baseAbnormality of head and HP:0005105 Abnormal nasal morphologyAbnormality of head and HP:0011064 Abnormal number of incisorsAbnormality of head and HP:0011044 Abnormal number of permanent teethAbnormality of head and HP:0006483 Abnormal number of teethAbnormality of head and HP:0100669 Abnormal pigmentation of the oral mucosaAbnormality of head and HP:0011218 Abnormal shape of the frontal regionAbnormality of head and HP:0011217 Abnormal shape of the occiputAbnormality of head and HP:0200005 Abnormal shape of the palpebral fissureAbnormality of head and HP:0200007 Abnormal size of the palpebral fissuresAbnormality of head and HP:0002648 Abnormality of calvarial morphologyAbnormality of head and HP:0011078 Abnormality of canineAbnormality of head and HP:0011329 Abnormality of cranial suturesAbnormality of head and HP:0011073 Abnormality of dental colorAbnormality of head and HP:0000682 Abnormality of dental enamelAbnormality of head and HP:0006292 Abnormality of dental eruption

Abnormality of head and HP:0006482 Abnormality of dental morphologyAbnormality of head and HP:0011061 Abnormality of dental structureAbnormality of head and HP:0010299 Abnormality of dentinAbnormality of head and HP:0000291 Abnormality of facial adipose tissueAbnormality of head and HP:0000301 Abnormality of facial musculatureAbnormality of head and HP:0011821 Abnormality of facial skeletonAbnormality of head and HP:0011799 Abnormality of facial soft tissueAbnormality of head and HP:0011328 Abnormality of fontanellesAbnormality of head and HP:0100886 Abnormality of globe locationAbnormality of head and HP:0100887 Abnormality of globe sizeAbnormality of head and HP:0000152 Abnormality of head and neckAbnormality of head and HP:0011063 Abnormality of incisor morphologyAbnormality of head and HP:0000178 Abnormality of lower lipAbnormality of head and HP:0011077 Abnormality of molarAbnormality of head and HP:0011070 Abnormality of molar morphologyAbnormality of head and HP:0011338 Abnormality of mouth shapeAbnormality of head and HP:0011337 Abnormality of mouth sizeAbnormality of head and HP:0000190 Abnormality of oral frenulaAbnormality of head and HP:0011830 Abnormality of oral mucosaAbnormality of head and HP:0000197 Abnormality of parotid glandAbnormality of head and HP:0011071 Abnormality of permanent molar morphologyAbnormality of head and HP:0011076 Abnormality of premolarAbnormality of head and HP:0011080 Abnormality of premolar morphologyAbnormality of head and HP:0006344 Abnormality of primary molar morphologyAbnormality of head and HP:0006481 Abnormality of primary teethAbnormality of head and HP:0100755 Abnormality of salivationAbnormality of head and HP:0002703 Abnormality of skull ossificationAbnormality of head and HP:0000240 Abnormality of skull sizeAbnormality of head and HP:0000223 Abnormality of taste sensationAbnormality of head and HP:0006477 Abnormality of the alveolar ridgesAbnormality of head and HP:0000236 Abnormality of the anterior fontanelleAbnormality of head and HP:0002683 Abnormality of the calvariaAbnormality of head and HP:0100717 Abnormality of the cementumAbnormality of head and HP:0004426 Abnormality of the cheeksAbnormality of head and HP:0000306 Abnormality of the chinAbnormality of head and HP:0000415 Abnormality of the choanaeAbnormality of head and HP:0010558 Abnormality of the clivusAbnormality of head and HP:0009929 Abnormality of the columellaAbnormality of head and HP:0006479 Abnormality of the dental pulpAbnormality of head and HP:0006486 Abnormality of the dental rootAbnormality of head and HP:0010938 Abnormality of the external noseAbnormality of head and HP:0000534 Abnormality of the eyebrowAbnormality of head and HP:0000499 Abnormality of the eyelashesAbnormality of head and HP:0000492 Abnormality of the eyelidAbnormality of head and HP:0000271 Abnormality of the faceAbnormality of head and HP:0000235 Abnormality of the fontanelles and cranial sutuAbnormality of head and HP:0002699 Abnormality of the foramen magnumAbnormality of head and HP:0000290 Abnormality of the foreheadAbnormality of head and HP:0000599 Abnormality of the frontal hairlineAbnormality of head and HP:0002687 Abnormality of the frontal sinuses

Abnormality of head and HP:0000168 Abnormality of the gingivaAbnormality of head and HP:0002056 Abnormality of the glabellaAbnormality of head and HP:0009553 Abnormality of the hairlineAbnormality of head and HP:0100737 Abnormality of the hard palateAbnormality of head and HP:0000234 Abnormality of the headAbnormality of head and HP:0000676 Abnormality of the incisorAbnormality of head and HP:0000159 Abnormality of the lipAbnormality of head and HP:0000277 Abnormality of the mandibleAbnormality of head and HP:0000264 Abnormality of the mastoidAbnormality of head and HP:0000326 Abnormality of the maxillaAbnormality of head and HP:0005556 Abnormality of the metopic sutureAbnormality of head and HP:0000309 Abnormality of the midfaceAbnormality of head and HP:0010641 Abnormality of the midnasal cavityAbnormality of head and HP:0000153 Abnormality of the mouthAbnormality of head and HP:0011006 Abnormality of the musculature of the neckAbnormality of head and HP:0005288 Abnormality of the naresAbnormality of head and HP:0000429 Abnormality of the nasal alaeAbnormality of head and HP:0010939 Abnormality of the nasal boneAbnormality of head and HP:0000422 Abnormality of the nasal bridgeAbnormality of head and HP:0010640 Abnormality of the nasal cavityAbnormality of head and HP:0011119 Abnormality of the nasal dorsumAbnormality of head and HP:0000433 Abnormality of the nasal mucosaAbnormality of head and HP:0000419 Abnormality of the nasal septumAbnormality of head and HP:0010937 Abnormality of the nasal skeletonAbnormality of head and HP:0000436 Abnormality of the nasal tipAbnormality of head and HP:0005289 Abnormality of the nasolabial regionAbnormality of head and HP:0001739 Abnormality of the nasopharynxAbnormality of head and HP:0000464 Abnormality of the neckAbnormality of head and HP:0000366 Abnormality of the noseAbnormality of head and HP:0012294 Abnormality of the occipital boneAbnormality of head and HP:0000284 Abnormality of the ocular regionAbnormality of head and HP:0000163 Abnormality of the oral cavityAbnormality of head and HP:0000315 Abnormality of the orbital regionAbnormality of head and HP:0000174 Abnormality of the palateAbnormality of head and HP:0008050 Abnormality of the palpebral fissuresAbnormality of head and HP:0002696 Abnormality of the parietal boneAbnormality of head and HP:0000606 Abnormality of the periorbital regionAbnormality of head and HP:0000600 Abnormality of the pharynxAbnormality of head and HP:0000288 Abnormality of the philtrumAbnormality of head and HP:0000932 Abnormality of the posterior cranial fossaAbnormality of head and HP:0010758 Abnormality of the premaxillaAbnormality of head and HP:0010286 Abnormality of the salivary glandsAbnormality of head and HP:0001965 Abnormality of the scalpAbnormality of head and HP:0100037 Abnormality of the scalp hairAbnormality of head and HP:0002679 Abnormality of the sella turcicaAbnormality of head and HP:0004408 Abnormality of the sense of smellAbnormality of head and HP:0000245 Abnormality of the sinusesAbnormality of head and HP:0000929 Abnormality of the skullAbnormality of head and HP:0002693 Abnormality of the skull baseAbnormality of head and HP:0100736 Abnormality of the soft palate

Abnormality of head and HP:0010288 Abnormality of the sublingual glandsAbnormality of head and HP:0010287 Abnormality of the submandibular glandsAbnormality of head and HP:0100538 Abnormality of the supraorbital ridgesAbnormality of head and HP:0000164 Abnormality of the teethAbnormality of head and HP:0009911 Abnormality of the temporal boneAbnormality of head and HP:0010754 Abnormality of the temporomandibular jointAbnormality of head and HP:0000157 Abnormality of the tongueAbnormality of head and HP:0000172 Abnormality of the uvulaAbnormality of head and HP:0005557 Abnormality of the zygomatic archAbnormality of head and HP:0010668 Abnormality of the zygomatic boneAbnormality of head and HP:0000177 Abnormality of upper lipAbnormality of head and HP:0011339 Abnormality of upper lip vermillionAbnormality of head and HP:0000198 Absence of Stensen ductAbnormality of head and HP:0010800 Absent cupid's bowAbnormality of head and HP:0005456 Absent ethmoidal sinusesAbnormality of head and HP:0002223 Absent eyebrowAbnormality of head and HP:0000561 Absent eyelashesAbnormality of head and HP:0002688 Absent frontal sinusesAbnormality of head and HP:0007708 Absent inner eyelashesAbnormality of head and HP:0007646 Absent lower eyelashesAbnormality of head and HP:0012761 Absent mastoidAbnormality of head and HP:0100596 Absent naresAbnormality of head and HP:0005285 Absent nasal bridgeAbnormality of head and HP:0005273 Absent nasal septal cartilageAbnormality of head and HP:0005623 Absent ossification of calvariaAbnormality of head and HP:0002689 Absent paranasal sinusesAbnormality of head and HP:0010292 Absent uvulaAbnormality of head and HP:0005453 Absent/hypoplastic paranasal sinusesAbnormality of head and HP:0012800 Accessory cranial sutureAbnormality of head and HP:0000191 Accessory oral frenulumAbnormality of head and HP:0004487 AcrobrachycephalyAbnormality of head and HP:0000255 Acute sinusitisAbnormality of head and HP:0009720 Adenoma sebaceumAbnormality of head and HP:0006288 Advanced eruption of teethAbnormality of head and HP:0010540 Advanced pneumatization of cranial sinusesAbnormality of head and HP:0010724 Advanced pneumatization of the mastoid proceAbnormality of head and HP:0012738 Agenesis of canineAbnormality of head and HP:0006289 Agenesis of central incisorAbnormality of head and HP:0011056 Agenesis of first permanent molar toothAbnormality of head and HP:0006485 Agenesis of incisorAbnormality of head and HP:0006355 Agenesis of mandibular central incisorAbnormality of head and HP:0011053 Agenesis of mandibular premolarAbnormality of head and HP:0006293 Agenesis of maxillary central incisorAbnormality of head and HP:0000690 Agenesis of maxillary lateral incisorAbnormality of head and HP:0011052 Agenesis of maxillary premolarAbnormality of head and HP:0011054 Agenesis of molarAbnormality of head and HP:0011048 Agenesis of permanent mandibular central inciAbnormality of head and HP:0011045 Agenesis of permanent maxillary central incisorAbnormality of head and HP:0011050 Agenesis of permanent maxillary lateral incisorAbnormality of head and HP:0011055 Agenesis of permanent molar

Abnormality of head and HP:0006349 Agenesis of permanent teethAbnormality of head and HP:0011051 Agenesis of premolarAbnormality of head and HP:0011047 Agenesis of primary mandibular central incisorAbnormality of head and HP:0011046 Agenesis of primary maxillary central incisorAbnormality of head and HP:0011049 Agenesis of primary maxillary lateral incisorAbnormality of head and HP:0011057 Agenesis of second permanent molarAbnormality of head and HP:0012730 AglossiaAbnormality of head and HP:0003193 Allergic rhinitisAbnormality of head and HP:0007874 Almond-shaped palpebral fissureAbnormality of head and HP:0002293 Alopecia of scalpAbnormality of head and HP:0006329 Alveolar process hypoplasiaAbnormality of head and HP:0010289 Alveolar ridge cleftAbnormality of head and HP:0009085 Alveolar ridge overgrowthAbnormality of head and HP:0000705 Amelogenesis imperfectaAbnormality of head and HP:0009755 AnkyloblepharonAbnormality of head and HP:0010296 AnkyloglossiaAbnormality of head and HP:0000674 AnodontiaAbnormality of head and HP:0000528 AnophthalmiaAbnormality of head and HP:0000458 AnosmiaAbnormality of head and HP:0003779 Antegonial notching of mandibleAbnormality of head and HP:0006992 Anterior basal encephaloceleAbnormality of head and HP:0007035 Anterior encephaloceleAbnormality of head and HP:0200095 Anterior open biteAbnormality of head and HP:0009102 Anterior open-bite malocclusionAbnormality of head and HP:0011326 Anterior plagiocephalyAbnormality of head and HP:0000463 Anteverted naresAbnormality of head and HP:0010667 Aplasia of the maxillaAbnormality of head and HP:0010941 Aplasia of the nasal boneAbnormality of head and HP:0009927 Aplasia of the noseAbnormality of head and HP:0009740 Aplasia of the parotid glandAbnormality of head and HP:0010757 Aplasia of the premaxillaAbnormality of head and HP:0011226 Aplasia/Hypoplasia affecting the eyelidAbnormality of head and HP:0009116 Aplasia/Hypoplasia involving bones of the skullAbnormality of head and HP:0009924 Aplasia/Hypoplasia involving the noseAbnormality of head and HP:0009120 Aplasia/Hypoplasia involving the sinusesAbnormality of head and HP:0100840 Aplasia/Hypoplasia of the eyebrowAbnormality of head and HP:0009119 Aplasia/Hypoplasia of the frontal sinusesAbnormality of head and HP:0009118 Aplasia/Hypoplasia of the mandibleAbnormality of head and HP:0009117 Aplasia/Hypoplasia of the maxillaAbnormality of head and HP:0010940 Aplasia/Hypoplasia of the nasal boneAbnormality of head and HP:0009935 Aplasia/Hypoplasia of the nasal septumAbnormality of head and HP:0010756 Aplasia/Hypoplasia of the premaxillaAbnormality of head and HP:0010295 Aplasia/Hypoplasia of the tongueAbnormality of head and HP:0010293 Aplasia/Hypoplasia of the uvulaAbnormality of head and HP:0011333 Asymmetric crying faceAbnormality of head and HP:0009940 Asymmetry of the mandibleAbnormality of head and HP:0010755 Asymmetry of the maxillaAbnormality of head and HP:0009941 Asymmetry of the mouthAbnormality of head and HP:0009930 Asymmetry of the naresAbnormality of head and HP:0004470 Atretic occipital cephalocele

Abnormality of head and HP:0100837 Atrophodermia vermiculataAbnormality of head and HP:0006308 Atrophy of alveolar ridgesAbnormality of head and HP:0011817 Basal encephaloceleAbnormality of head and HP:0005758 Basilar impressionAbnormality of head and HP:0012366 Basilar invaginationAbnormality of head and HP:0011318 Bicoronal synostosisAbnormality of head and HP:0000456 Bifid nasal tipAbnormality of head and HP:0011803 Bifid noseAbnormality of head and HP:0010297 Bifid tongueAbnormality of head and HP:0000193 Bifid uvulaAbnormality of head and HP:0011319 Bilambdoid synostosisAbnormality of head and HP:0004502 Bilateral choanal atresiaAbnormality of head and HP:0200138 Bilateral choanal atresia/stenosisAbnormality of head and HP:0100336 Bilateral cleft lipAbnormality of head and HP:0002744 Bilateral cleft lip and palateAbnormality of head and HP:0100337 Bilateral cleft palateAbnormality of head and HP:0007633 Bilateral microphthalmosAbnormality of head and HP:0004422 Biparietal narrowingAbnormality of head and HP:0000320 Bird-like faciesAbnormality of head and HP:0011336 Bitemporal forceps marksAbnormality of head and HP:0000498 BlepharitisAbnormality of head and HP:0010749 BlepharochalasisAbnormality of head and HP:0000581 BlepharophimosisAbnormality of head and HP:0000643 BlepharospasmAbnormality of head and HP:0004407 Bony paranasal bossingAbnormality of head and HP:0000248 BrachycephalyAbnormality of head and HP:0000244 BrachyturricephalyAbnormality of head and HP:0009794 Branchial anomalyAbnormality of head and HP:0009796 Branchial cystAbnormality of head and HP:0009795 Branchial fistulaAbnormality of head and HP:0100272 Branchial sinusAbnormality of head and HP:0005449 Bridged sella turcicaAbnormality of head and HP:0000187 Broad alveolar ridgesAbnormality of head and HP:0011822 Broad chinAbnormality of head and HP:0010761 Broad columellaAbnormality of head and HP:0011229 Broad eyebrowAbnormality of head and HP:0000283 Broad faceAbnormality of head and HP:0000337 Broad foreheadAbnormality of head and HP:0012802 Broad jawAbnormality of head and HP:0007933 Broad lateral eyebrowAbnormality of head and HP:0000455 Broad nasal tipAbnormality of head and HP:0000475 Broad neckAbnormality of head and HP:0000289 Broad philtrumAbnormality of head and HP:0000216 Broad secondary alveolar ridgeAbnormality of head and HP:0002682 Broad skullAbnormality of head and HP:0010809 Broad uvulaAbnormality of head and HP:0000414 Bulbous noseAbnormality of head and HP:0006326 Buried teeth encased in mucopolysaccharideAbnormality of head and HP:0004490 Calvarial hyperostosisAbnormality of head and HP:0000670 Carious teeth

Abnormality of head and HP:0005275 Cartilaginous ossification of noseAbnormality of head and HP:0012328 CementomaAbnormality of head and HP:0011815 CephaloceleAbnormality of head and HP:0004485 Cessation of head growthAbnormality of head and HP:0010605 ChalazionAbnormality of head and HP:0012370 Cheekbone prominenceAbnormality of head and HP:0010669 Cheekbone underdevelopmentAbnormality of head and HP:0100825 CheilitisAbnormality of head and HP:0010751 Chin dimpleAbnormality of head and HP:0011824 Chin with H-shaped creaseAbnormality of head and HP:0011823 Chin with horizontal creaseAbnormality of head and HP:0000453 Choanal atresiaAbnormality of head and HP:0000452 Choanal stenosisAbnormality of head and HP:0004469 Chronic bronchitisAbnormality of head and HP:0002257 Chronic rhinitisAbnormality of head and HP:0004499 Chronic rhinitis due to narrow nasal airwayAbnormality of head and HP:0011109 Chronic sinusitisAbnormality of head and HP:0003191 Cleft ala nasiAbnormality of head and HP:0000625 Cleft eyelidAbnormality of head and HP:0009752 Cleft in skull baseAbnormality of head and HP:0009094 Cleft lower alveolar ridgeAbnormality of head and HP:0010281 Cleft lower lipAbnormality of head and HP:0010752 Cleft mandibleAbnormality of head and HP:0011323 Cleft of chinAbnormality of head and HP:0000175 Cleft palateAbnormality of head and HP:0000185 Cleft soft palateAbnormality of head and HP:0000204 Cleft upper lipAbnormality of head and HP:0002676 Cloverleaf skullAbnormality of head and HP:0000280 Coarse facial featuresAbnormality of head and HP:0002710 Commissural lip pitAbnormality of head and HP:0011120 Concave nasal ridgeAbnormality of head and HP:0008497 Congenital craniofacial dysostosisAbnormality of head and HP:0007188 Congenital facial diplegiaAbnormality of head and HP:0011451 Congenital microcephalyAbnormality of head and HP:0005988 Congenital muscular torticollisAbnormality of head and HP:0011065 Conical incisorAbnormality of head and HP:0006339 Conical mandibular incisorAbnormality of head and HP:0011083 Conical maxillary incisorAbnormality of head and HP:0011082 Conical primary incisorAbnormality of head and HP:0000698 Conical toothAbnormality of head and HP:0000444 Convex nasal ridgeAbnormality of head and HP:0004440 Coronal craniosynostosisAbnormality of head and HP:0000267 Cranial asymmetryAbnormality of head and HP:0004437 Cranial hyperostosisAbnormality of head and HP:0004484 Craniofacial asymmetryAbnormality of head and HP:0005461 Craniofacial disproportionAbnormality of head and HP:0004439 Craniofacial dysostosisAbnormality of head and HP:0004493 Craniofacial hyperostosisAbnormality of head and HP:0001363 CraniosynostosisAbnormality of head and HP:0004423 Cranium bifidum occultum

Abnormality of head and HP:0006333 Crowded maxillary incisorsAbnormality of head and HP:0001126 CryptophthalmosAbnormality of head and HP:0007665 Curly eyelashesAbnormality of head and HP:0002055 Curved linear dimple below the lower lipAbnormality of head and HP:0010541 Cutis gyrata of scalpAbnormality of head and HP:0009914 CyclopiaAbnormality of head and HP:0010604 Cyst of the eyelidAbnormality of head and HP:0000476 Cystic hygromaAbnormality of head and HP:0006302 Dagger-shaped pulp calcificationsAbnormality of head and HP:0001305 Dandy-Walker malformationAbnormality of head and HP:0005474 Decreased calvarial ossificationAbnormality of head and HP:0005451 Decreased cranial base ossificationAbnormality of head and HP:0004673 Decreased facial expressionAbnormality of head and HP:0004331 Decreased skull ossificationAbnormality of head and HP:0000224 Decreased taste sensationAbnormality of head and HP:0002002 Deep philtrumAbnormality of head and HP:0000490 Deeply set eyeAbnormality of head and HP:0002681 Deformed sella turcicaAbnormality of head and HP:0001476 Delayed closure of the anterior fontanelleAbnormality of head and HP:0000270 Delayed cranial suture closureAbnormality of head and HP:0000696 Delayed eruption of permanent teethAbnormality of head and HP:0000680 Delayed eruption of primary teethAbnormality of head and HP:0000684 Delayed eruption of teethAbnormality of head and HP:0005906 Delayed pneumatization of the mastoid procesAbnormality of head and HP:0011088 Dens in denteAbnormality of head and HP:0000250 Dense calvariaAbnormality of head and HP:0000678 Dental crowdingAbnormality of head and HP:0009722 Dental enamel pitsAbnormality of head and HP:0000689 Dental malocclusionAbnormality of head and HP:0000703 Dentinogenesis imperfectaAbnormality of head and HP:0011060 Dentinogenesis imperfecta limited to primary teAbnormality of head and HP:0011086 Dentinogenesis imperfecta of primary and permAbnormality of head and HP:0011222 Depressed glabellaAbnormality of head and HP:0005280 Depressed nasal bridgeAbnormality of head and HP:0000457 Depressed nasal ridgeAbnormality of head and HP:0000437 Depressed nasal tipAbnormality of head and HP:0010750 DermatochalasisAbnormality of head and HP:0004411 Deviated nasal septumAbnormality of head and HP:0011831 Deviated nasal tipAbnormality of head and HP:0000699 DiastemaAbnormality of head and HP:0000183 Difficulty in tongue movementsAbnormality of head and HP:0004132 Dimple on nasal tipAbnormality of head and HP:0006290 Discolored lateral incisorsAbnormality of head and HP:0009743 DistichiasisAbnormality of head and HP:0005324 Disturbance of facial expressionAbnormality of head and HP:0000268 DolichocephalyAbnormality of head and HP:0000295 Doll-like faciesAbnormality of head and HP:0010730 Double eyebrowAbnormality of head and HP:0011089 Double toothAbnormality of head and HP:0000494 Downslanted palpebral fissures

Abnormality of head and HP:0002714 Downturned corners of mouthAbnormality of head and HP:0002307 DroolingAbnormality of head and HP:0008769 Dull facial expressionAbnormality of head and HP:0012472 EclabionAbnormality of head and HP:0000656 EctropionAbnormality of head and HP:0007651 Ectropion of lower eyelidsAbnormality of head and HP:0000930 Elevated imprint of the transverse sinusesAbnormality of head and HP:0004428 Elfin faciesAbnormality of head and HP:0005463 Elongated sella turcicaAbnormality of head and HP:0002084 EncephaloceleAbnormality of head and HP:0009931 Enlarged narisAbnormality of head and HP:0011801 Enlargement of parotid glandAbnormality of head and HP:0000621 EntropionAbnormality of head and HP:0011225 EpiblepharonAbnormality of head and HP:0000286 EpicanthusAbnormality of head and HP:0000537 Epicanthus inversusAbnormality of head and HP:0000421 EpistaxisAbnormality of head and HP:0004478 Ethmoidal encephaloceleAbnormality of head and HP:0012905 EuryblepharonAbnormality of head and HP:0007655 Eversion of lateral third of lower eyelidsAbnormality of head and HP:0000232 Everted lower lip vermilionAbnormality of head and HP:0010803 Everted upper lip vermilionAbnormality of head and HP:0002263 Exaggerated cupid's bowAbnormality of head and HP:0002711 Exaggerated median tongue furrowAbnormality of head and HP:0003781 Excessive salivationAbnormality of head and HP:0010731 Extension of eyebrows towards upper eyelidAbnormality of head and HP:0005325 Extension of hair growth on temples to lateral Abnormality of head and HP:0012367 Extra fontanellesAbnormality of head and HP:0000658 Eyelid apraxiaAbnormality of head and HP:0000324 Facial asymmetryAbnormality of head and HP:0000996 Facial capillary hemangiomaAbnormality of head and HP:0002006 Facial cleftAbnormality of head and HP:0001349 Facial diplegiaAbnormality of head and HP:0009090 Facial diplegic appearanceAbnormality of head and HP:0000282 Facial edemaAbnormality of head and HP:0000273 Facial grimacingAbnormality of head and HP:0000329 Facial hemangiomaAbnormality of head and HP:0005465 Facial hyperostosisAbnormality of head and HP:0000297 Facial hypotoniaAbnormality of head and HP:0004664 Facial midline hemangiomaAbnormality of head and HP:0000317 Facial myokymiaAbnormality of head and HP:0010628 Facial palsyAbnormality of head and HP:0007285 Facial palsy secondary to cranial hyperostosisAbnormality of head and HP:0007209 Facial paralysisAbnormality of head and HP:0011334 Facial shape deformationAbnormality of head and HP:0011468 Facial ticsAbnormality of head and HP:0006352 Failure of eruption of permanent teethAbnormality of head and HP:0010878 Fetal cystic hygromaAbnormality of head and HP:0009754 Fibrous syngnathiaAbnormality of head and HP:0005329 Fixed facial expression

Abnormality of head and HP:0000454 Flared nostrilsAbnormality of head and HP:0012368 Flat faceAbnormality of head and HP:0004425 Flat foreheadAbnormality of head and HP:0010649 Flat nasal alaeAbnormality of head and HP:0005469 Flat occiputAbnormality of head and HP:0100857 Flat sella turcicaAbnormality of head and HP:0005466 Frontal bone hypoplasiaAbnormality of head and HP:0002007 Frontal bossingAbnormality of head and HP:0007330 Frontal encephaloceleAbnormality of head and HP:0011335 Frontal hirsutismAbnormality of head and HP:0200094 Frontal open biteAbnormality of head and HP:0004661 Frontalis muscle weaknessAbnormality of head and HP:0000293 Full cheeksAbnormality of head and HP:0012812 Fullness of paranasal tissueAbnormality of head and HP:0000221 Furrowed tongueAbnormality of head and HP:0100788 Fused lipsAbnormality of head and HP:0011090 Fused teethAbnormality of head and HP:0012292 Fusion of gumsAbnormality of head and HP:0011091 GeminationAbnormality of head and HP:0006282 Generalized hypoplasia of dental enamelAbnormality of head and HP:0006311 Generalized microdontiaAbnormality of head and HP:0011058 Generalized periodontitisAbnormality of head and HP:0100955 Giant cell granuloma of mandibleAbnormality of head and HP:0000225 Gingival bleedingAbnormality of head and HP:0000169 Gingival fibromatosisAbnormality of head and HP:0000222 Gingival hyperkeratosisAbnormality of head and HP:0000212 Gingival overgrowthAbnormality of head and HP:0000230 GingivitisAbnormality of head and HP:0000206 GlossitisAbnormality of head and HP:0000162 GlossoptosisAbnormality of head and HP:0000683 Grayish enamelAbnormality of head and HP:0011075 Green teethAbnormality of head and HP:0100812 HalitosisAbnormality of head and HP:0011802 Hamartoma of tongueAbnormality of head and HP:0002054 Heavy supraorbital ridgesAbnormality of head and HP:0011331 Hemifacial atrophyAbnormality of head and HP:0005323 Hemifacial hypertrophyAbnormality of head and HP:0011332 Hemifacial hypoplasiaAbnormality of head and HP:0100875 HemimacroglossiaAbnormality of head and HP:0009890 High anterior hairlineAbnormality of head and HP:0000348 High foreheadAbnormality of head and HP:0012807 High insertion of columellaAbnormality of head and HP:0000218 High palateAbnormality of head and HP:0012891 High posterior hairlineAbnormality of head and HP:0002705 High, narrow palateAbnormality of head and HP:0002553 Highly arched eyebrowAbnormality of head and HP:0010606 HordeolumAbnormality of head and HP:0010607 Hordeolum externumAbnormality of head and HP:0010608 Hordeolum internumAbnormality of head and HP:0011228 Horizontal eyebrow

Abnormality of head and HP:0005890 Hyperostosis cranialis internaAbnormality of head and HP:0004438 Hyperostosis frontalis internaAbnormality of head and HP:0100809 Hypersensibility of scalpAbnormality of head and HP:0000316 HypertelorismAbnormality of head and HP:0011084 Hypocalcification of dental enamelAbnormality of head and HP:0000668 HypodontiaAbnormality of head and HP:0011085 Hypomature dental enamelAbnormality of head and HP:0000338 Hypomimic faceAbnormality of head and HP:0006285 Hypomineralization of enamelAbnormality of head and HP:0006297 Hypoplasia of dental enamelAbnormality of head and HP:0004660 Hypoplasia of facial musculatureAbnormality of head and HP:0000685 Hypoplasia of teethAbnormality of head and HP:0010666 Hypoplasia of the anterior nasal spineAbnormality of head and HP:0007697 Hypoplasia of the lower eyelidsAbnormality of head and HP:0000327 Hypoplasia of the maxillaAbnormality of head and HP:0004646 Hypoplasia of the nasal boneAbnormality of head and HP:0009555 Hypoplasia of the pharynxAbnormality of head and HP:0006334 Hypoplasia of the primary teethAbnormality of head and HP:0006353 Hypoplasia of the tooth germAbnormality of head and HP:0002692 Hypoplastic facial bonesAbnormality of head and HP:0002738 Hypoplastic frontal sinusesAbnormality of head and HP:0005281 Hypoplastic nasal bridgeAbnormality of head and HP:0005104 Hypoplastic nasal septumAbnormality of head and HP:0005278 Hypoplastic nasal tipAbnormality of head and HP:0005326 Hypoplastic philtrumAbnormality of head and HP:0004409 HyposmiaAbnormality of head and HP:0000601 HypotelorismAbnormality of head and HP:0011079 Impacted toothAbnormality of head and HP:0011081 Incisor macrodontiaAbnormality of head and HP:0011340 Incomplete cleft of the upper lipAbnormality of head and HP:0000468 Increased adipose tissue around the neckAbnormality of head and HP:0007800 Increased axial globe lengthAbnormality of head and HP:0000287 Increased facial adipose tissueAbnormality of head and HP:0011069 Increased number of teethAbnormality of head and HP:0004330 Increased skull ossificationAbnormality of head and HP:0100876 Infra-orbital creaseAbnormality of head and HP:0011232 Infra-orbital foldAbnormality of head and HP:0010284 Intra-oral hyperpigmentationAbnormality of head and HP:0006316 Irregularly spaced teethAbnormality of head and HP:0002680 J-shaped sella turcicaAbnormality of head and HP:0010603 Keratocystic odontogenic tumorAbnormality of head and HP:0004443 Lambdoidal craniosynostosisAbnormality of head and HP:0003683 Large beaked noseAbnormality of head and HP:0001090 Large eyesAbnormality of head and HP:0100729 Large faceAbnormality of head and HP:0000239 Large fontanellesAbnormality of head and HP:0002700 Large foramen magnumAbnormality of head and HP:0002003 Large foreheadAbnormality of head and HP:0004491 Large posterior fontanelleAbnormality of head and HP:0002690 Large sella turcica

Abnormality of head and HP:0007733 Laterally curved eyebrowAbnormality of head and HP:0011230 Laterally extended eyebrowAbnormality of head and HP:0011316 Left unicoronal synostosisAbnormality of head and HP:0011321 Left unilambdoid synostosisAbnormality of head and HP:0005986 Limitation of neck motionAbnormality of head and HP:0005991 Limited neck flexionAbnormality of head and HP:0000466 Limited neck range of motionAbnormality of head and HP:0010798 Lip freckleAbnormality of head and HP:0100816 Lip hyperpigmentationAbnormality of head and HP:0100267 Lip pitAbnormality of head and HP:0000214 Lip telangiectasiaAbnormality of head and HP:0000180 Lobulated tongueAbnormality of head and HP:0011074 Localized hypoplasia of dental enamelAbnormality of head and HP:0011059 Localized periodontitisAbnormality of head and HP:0004523 Long eyebrowsAbnormality of head and HP:0000527 Long eyelashesAbnormality of head and HP:0007740 Long eyelashes in irregular rowsAbnormality of head and HP:0000276 Long faceAbnormality of head and HP:0000472 Long neckAbnormality of head and HP:0003189 Long noseAbnormality of head and HP:0000637 Long palpebral fissureAbnormality of head and HP:0000343 Long philtrumAbnormality of head and HP:0007840 Long upper eyelashesAbnormality of head and HP:0011341 Long upper lipAbnormality of head and HP:0010810 Long uvulaAbnormality of head and HP:0011457 Loss of eyelashesAbnormality of head and HP:0000292 Loss of facial adipose tissueAbnormality of head and HP:0005327 Loss of facial expressionAbnormality of head and HP:0000294 Low anterior hairlineAbnormality of head and HP:0009765 Low hanging columellaAbnormality of head and HP:0010763 Low insertion of columellaAbnormality of head and HP:0002162 Low posterior hairlineAbnormality of head and HP:0000652 Lower eyelid colobomaAbnormality of head and HP:0012568 Lower eyelid edemaAbnormality of head and HP:0000196 Lower lip pitAbnormality of head and HP:0000256 MacrocephalyAbnormality of head and HP:0004488 Macrocephaly at birthAbnormality of head and HP:0200135 Macrocephaly due to hydrocephalusAbnormality of head and HP:0001572 MacrodontiaAbnormality of head and HP:0000675 Macrodontia of permanent maxillary central incAbnormality of head and HP:0000158 MacroglossiaAbnormality of head and HP:0011827 Malaligned philtral ridgesAbnormality of head and HP:0012369 Malar anomalyAbnormality of head and HP:0000272 Malar flatteningAbnormality of head and HP:0010620 Malar prominenceAbnormality of head and HP:0006338 Malformation of mandibular premolarAbnormality of head and HP:0009939 Mandibular aplasiaAbnormality of head and HP:0007627 Mandibular condyle aplasiaAbnormality of head and HP:0007628 Mandibular condyle hypoplasiaAbnormality of head and HP:0004472 Mandibular hyperostosis

Abnormality of head and HP:0007626 Mandibular osteomyelitisAbnormality of head and HP:0200025 Mandibular painAbnormality of head and HP:0000303 Mandibular prognathiaAbnormality of head and HP:0005321 Mandibulofacial dysostosisAbnormality of head and HP:0006291 Marked delay in eruption of permanent teethAbnormality of head and HP:0000298 Mask-like faciesAbnormality of head and HP:0000265 MastoiditisAbnormality of head and HP:0001593 Maxillary lateral incisor microdontiaAbnormality of head and HP:0005439 Maxillozygomatic hypoplasiaAbnormality of head and HP:0010747 Medial flaring of the eyebrowAbnormality of head and HP:0000161 Median cleft lipAbnormality of head and HP:0008501 Median cleft lip and palateAbnormality of head and HP:0009099 Median cleft palateAbnormality of head and HP:0011820 Membranous choanal atresiaAbnormality of head and HP:0006888 MeningoencephaloceleAbnormality of head and HP:0011067 MesiodensAbnormality of head and HP:0011223 Metopic depressionAbnormality of head and HP:0005495 Metopic suture patent to nasal rootAbnormality of head and HP:0011330 Metopic synostosisAbnormality of head and HP:0000252 MicrocephalyAbnormality of head and HP:0000691 MicrodontiaAbnormality of head and HP:0006347 Microdontia of primary teethAbnormality of head and HP:0000171 MicroglossiaAbnormality of head and HP:0000347 MicrognathiaAbnormality of head and HP:0000568 MicrophthalmosAbnormality of head and HP:0000308 MicroretrognathiaAbnormality of head and HP:0007452 Midface capillary hemangiomaAbnormality of head and HP:0012371 Midface prominenceAbnormality of head and HP:0011800 Midface retrusionAbnormality of head and HP:0007466 Midfrontal capillary hemangiomaAbnormality of head and HP:0010753 Midline defect of mandibleAbnormality of head and HP:0004122 Midline defect of the noseAbnormality of head and HP:0007601 Midline facial capillary hemangiomaAbnormality of head and HP:0100629 Midline facial cleftAbnormality of head and HP:0004112 Midline nasal grooveAbnormality of head and HP:0009084 Midline notch of upper alveolar ridgeAbnormality of head and HP:0011828 Midline sinus of philtrumAbnormality of head and HP:0005498 Midline skin dimples over anterior/posterior fontanellesAbnormality of head and HP:0010643 Midnasal atresiaAbnormality of head and HP:0010644 Midnasal stenosisAbnormality of head and HP:0011062 Misalignment of incisorsAbnormality of head and HP:0000692 Misalignment of teethAbnormality of head and HP:0011093 Molarization of premolarAbnormality of head and HP:0000182 Movement abnormality of the tongueAbnormality of head and HP:0011092 Mulberry molarAbnormality of head and HP:0001571 Multiple impacted teethAbnormality of head and HP:0006321 Multiple non-erupting secondary teethAbnormality of head and HP:0008496 Multiple rows of eyelashesAbnormality of head and HP:0011324 Multiple suture craniosynostosisAbnormality of head and HP:0006283 Multiple unerupted teeth

Abnormality of head and HP:0002058 Myopathic faciesAbnormality of head and HP:0000275 Narrow faceAbnormality of head and HP:0000341 Narrow foreheadAbnormality of head and HP:0012801 Narrow jawAbnormality of head and HP:0002010 Narrow maxillaAbnormality of head and HP:0000160 Narrow mouthAbnormality of head and HP:0009933 Narrow narisAbnormality of head and HP:0012809 Narrow nasal baseAbnormality of head and HP:0000446 Narrow nasal bridgeAbnormality of head and HP:0000418 Narrow nasal ridgeAbnormality of head and HP:0009936 Narrow nasal septumAbnormality of head and HP:0011832 Narrow nasal tipAbnormality of head and HP:0000460 Narrow noseAbnormality of head and HP:0000189 Narrow palateAbnormality of head and HP:0011829 Narrow philtrumAbnormality of head and HP:0010811 Narrow uvulaAbnormality of head and HP:0000434 Nasal mucosa telangiectasiaAbnormality of head and HP:0001742 Nasal obstructionAbnormality of head and HP:0100582 Nasal polyposisAbnormality of head and HP:0011818 Nasofrontal encephaloceleAbnormality of head and HP:0000695 Natal toothAbnormality of head and HP:0003722 Neck flexor weaknessAbnormality of head and HP:0000467 Neck muscle weaknessAbnormality of head and HP:0100630 Neoplasia of the nasopharynxAbnormality of head and HP:0100637 Neoplasia of the noseAbnormality of head and HP:0100638 Neoplasia of the pharynxAbnormality of head and HP:0100604 Neoplasm of the lipAbnormality of head and HP:0012720 Neoplasm of the noseAbnormality of head and HP:0100649 Neoplasm of the oral cavityAbnormality of head and HP:0100648 Neoplasm of the tongueAbnormality of head and HP:0008498 No permanent dentitionAbnormality of head and HP:0010732 Nodular changes affecting the eyelidsAbnormality of head and HP:0100335 Non-midline cleft lipAbnormality of head and HP:0100338 Non-midline cleft palateAbnormality of head and HP:0012413 Notched primary central incisorAbnormality of head and HP:0005452 Obliteration of frontal sinusesAbnormality of head and HP:0006350 Obliteration of the pulp chamberAbnormality of head and HP:0005446 Obtuse angle of mandibleAbnormality of head and HP:0002085 Occipital encephaloceleAbnormality of head and HP:0200026 Ocular painAbnormality of head and HP:0100612 Odontogenic neoplasmAbnormality of head and HP:0011068 OdontomaAbnormality of head and HP:0000677 OligodontiaAbnormality of head and HP:0012225 Oligodontia of primary teethAbnormality of head and HP:0010807 Open biteAbnormality of head and HP:0000194 Open mouthAbnormality of head and HP:0000228 Oral cavity teleangiectasiaAbnormality of head and HP:0000202 Oral cleftAbnormality of head and HP:0002745 Oral leukoplakiaAbnormality of head and HP:0200097 Oral mucusa blisters

Abnormality of head and HP:0010285 Oral synechiaAbnormality of head and HP:0000155 Oral ulcerAbnormality of head and HP:0200136 Oral-pharyngeal dysphagiaAbnormality of head and HP:0005472 Orbital craniosynostosisAbnormality of head and HP:0001144 Orbital cystAbnormality of head and HP:0007115 Orbital encephaloceleAbnormality of head and HP:0000300 Oval faceAbnormality of head and HP:0011094 OverbiteAbnormality of head and HP:0011833 Overhanging nasal tipAbnormality of head and HP:0011095 OverjetAbnormality of head and HP:0000263 OxycephalyAbnormality of head and HP:0010294 Palate fistulaAbnormality of head and HP:0002707 Palate telangiectasiaAbnormality of head and HP:0100540 Palpebral edemaAbnormality of head and HP:0000661 Palpebral fissure narrowing on adductionAbnormality of head and HP:0011325 PansynostosisAbnormality of head and HP:0100269 Paramedian lip pitAbnormality of head and HP:0006784 Paranasal sinus hypoplasiaAbnormality of head and HP:0000242 Parietal bossingAbnormality of head and HP:0011816 Parietal encephaloceleAbnormality of head and HP:0002697 Parietal foraminaAbnormality of head and HP:0011850 ParotitisAbnormality of head and HP:0010633 Partial anosmiaAbnormality of head and HP:0010635 Partial hyposmiaAbnormality of head and HP:0000447 Pear-shaped noseAbnormality of head and HP:0006342 Peg-shaped maxillary lateral incisorsAbnormality of head and HP:0000700 Periapical radiolucencyAbnormality of head and HP:0000704 PeriodontitisAbnormality of head and HP:0010802 Perioral hyperpigmentationAbnormality of head and HP:0100539 Periorbital edemaAbnormality of head and HP:0000629 Periorbital fullnessAbnormality of head and HP:0001106 Periorbital hyperpigmentationAbnormality of head and HP:0000607 Periorbital wrinklesAbnormality of head and HP:0006335 Persistence of primary teethAbnormality of head and HP:0004474 Persistent open anterior fontanelleAbnormality of head and HP:0011855 Pharyngeal edemaAbnormality of head and HP:0011826 Philtrum with midline rapheAbnormality of head and HP:0000201 Pierre-Robin sequenceAbnormality of head and HP:0001357 PlagiocephalyAbnormality of head and HP:0007434 Plaque-like facial hemangiomaAbnormality of head and HP:0002691 PlatybasiaAbnormality of head and HP:0000307 Pointed chinAbnormality of head and HP:0004544 Pointed frontal hairlineAbnormality of head and HP:0004496 Posterior choanal atresiaAbnormality of head and HP:0007291 Posterior fossa cystAbnormality of head and HP:0000933 Posterior fossa cyst at the fourth ventricleAbnormality of head and HP:0006783 Posterior pharyngeal cleftAbnormality of head and HP:0011327 Posterior plagiocephalyAbnormality of head and HP:0009087 Posteriorly placed tongueAbnormality of head and HP:0010879 Postnatal cystic hygroma

Abnormality of head and HP:0005490 Postnatal macrocephalyAbnormality of head and HP:0005484 Postnatal microcephalyAbnormality of head and HP:0002009 Potter faciesAbnormality of head and HP:0008491 Premature anterior fontanel closureAbnormality of head and HP:0005458 Premature closure of fontanellesAbnormality of head and HP:0006337 Premature eruption of permanent teethAbnormality of head and HP:0006357 Premature loss of permanent teethAbnormality of head and HP:0006323 Premature loss of primary teethAbnormality of head and HP:0006480 Premature loss of teethAbnormality of head and HP:0005494 Premature posterior fontanelle closureAbnormality of head and HP:0010759 Premaxillary ProminenceAbnormality of head and HP:0010650 Premaxillary underdevelopmentAbnormality of head and HP:0012806 ProboscisAbnormality of head and HP:0009092 Progressive alveolar ridge hypertropyAbnormality of head and HP:0009019 Progressive loss of facial adipose tissueAbnormality of head and HP:0004481 Progressive macrocephalyAbnormality of head and HP:0000253 Progressive microcephalyAbnormality of head and HP:0005477 Progressive sclerosis of skull baseAbnormality of head and HP:0009554 Projection of scalp hair onto lateral cheekAbnormality of head and HP:0007930 Prominent epicanthal foldsAbnormality of head and HP:0011231 Prominent eyelashesAbnormality of head and HP:0011220 Prominent foreheadAbnormality of head and HP:0005478 Prominent frontal sinusesAbnormality of head and HP:0002057 Prominent glabellaAbnormality of head and HP:0002708 Prominent median palatal rapheAbnormality of head and HP:0005487 Prominent metopic ridgeAbnormality of head and HP:0000426 Prominent nasal bridgeAbnormality of head and HP:0005322 Prominent nasal septumAbnormality of head and HP:0005274 Prominent nasal tipAbnormality of head and HP:0005272 Prominent nasolabial foldAbnormality of head and HP:0000448 Prominent noseAbnormality of head and HP:0000269 Prominent occiputAbnormality of head and HP:0010291 Prominent palatine ridgesAbnormality of head and HP:0000336 Prominent supraorbital ridgesAbnormality of head and HP:0000520 ProptosisAbnormality of head and HP:0010808 Protruding tongueAbnormality of head and HP:0000339 Pugilistic faciesAbnormality of head and HP:0003771 Pulp stonesAbnormality of head and HP:0000205 Pursed lipsAbnormality of head and HP:0011107 Recurrent aphthous stomatitisAbnormality of head and HP:0100501 Recurrent bronchiolitisAbnormality of head and HP:0002837 Recurrent bronchitisAbnormality of head and HP:0005332 Recurrent mandibular subluxationsAbnormality of head and HP:0100776 Recurrent pharyngitisAbnormality of head and HP:0011108 Recurrent sinusitisAbnormality of head and HP:0200117 Recurrent upper and lower respiratory tract infectionsAbnormality of head and HP:0002788 Recurrent upper respiratory tract infectionsAbnormality of head and HP:0009804 Reduced number of teethAbnormality of head and HP:0005989 Redundant neck skinAbnormality of head and HP:0004482 Relative macrocephaly

Abnormality of head and HP:0005997 Restricted neck movement due to contracturesAbnormality of head and HP:0012788 Reticulate pigmentation of oral mucosaAbnormality of head and HP:0002544 RetrocollisAbnormality of head and HP:0000278 RetrognathiaAbnormality of head and HP:0012384 RhinitisAbnormality of head and HP:0010823 Ridged cranial suturesAbnormality of head and HP:0011317 Right unicoronal synostosisAbnormality of head and HP:0011322 Right unilambdoid synostosisAbnormality of head and HP:0011072 Rootless teethAbnormality of head and HP:0006330 Rotated maxillary central incisorsAbnormality of head and HP:0000311 Round faceAbnormality of head and HP:0007835 S-shaped palpebral fissuresAbnormality of head and HP:0004442 Sagittal craniosynostosisAbnormality of head and HP:0100684 Salivary gland neoplasmAbnormality of head and HP:0004552 Scarring alopecia of scalpAbnormality of head and HP:0002694 Sclerosis of skull baseAbnormality of head and HP:0005441 Sclerotic cranial suturesAbnormality of head and HP:0006346 Screwdriver-shaped incisorsAbnormality of head and HP:0001592 Selective tooth agenesisAbnormality of head and HP:0000166 Severe periodontitisAbnormality of head and HP:0000586 Shallow orbitsAbnormality of head and HP:0000694 Shell teethAbnormality of head and HP:0005723 Shoe-shaped sella turcicaAbnormality of head and HP:0000331 Short chinAbnormality of head and HP:0002000 Short columellaAbnormality of head and HP:0007691 Short curly eyelashesAbnormality of head and HP:0006336 Short dental rootsAbnormality of head and HP:0010764 Short eyelashesAbnormality of head and HP:0011219 Short faceAbnormality of head and HP:0010290 Short hard palateAbnormality of head and HP:0000200 Short lingual frenulumAbnormality of head and HP:0005790 Short mandibular condylesAbnormality of head and HP:0003778 Short mandibular ramiAbnormality of head and HP:0003194 Short nasal bridgeAbnormality of head and HP:0000420 Short nasal septumAbnormality of head and HP:0000470 Short neckAbnormality of head and HP:0003196 Short noseAbnormality of head and HP:0012745 Short palpebral fissureAbnormality of head and HP:0000322 Short philtrumAbnormality of head and HP:0000188 Short upper lipAbnormality of head and HP:0010812 Short uvulaAbnormality of head and HP:0006358 Shovel-shaped maxillary central incisorsAbnormality of head and HP:0006315 Single median maxillary incisorAbnormality of head and HP:0009932 Single narisAbnormality of head and HP:0000246 SinusitisAbnormality of head and HP:0002678 Skull asymmetryAbnormality of head and HP:0001362 Skull defectAbnormality of head and HP:0200006 Slanting of the palpebral fissureAbnormality of head and HP:0005335 Sleepy facial expressionAbnormality of head and HP:0000417 Slender nose

Abnormality of head and HP:0000340 Sloping foreheadAbnormality of head and HP:0100038 Slow-growing scalp hairAbnormality of head and HP:0000237 Small anterior fontanelleAbnormality of head and HP:0000274 Small faceAbnormality of head and HP:0005759 Small flat posterior fossaAbnormality of head and HP:0005486 Small fontanelleAbnormality of head and HP:0002677 Small foramen magnumAbnormality of head and HP:0000350 Small foreheadAbnormality of head and HP:0010538 Small sella turcicaAbnormality of head and HP:0200141 Small, conical teethAbnormality of head and HP:0000319 Smooth philtrumAbnormality of head and HP:0010298 Smooth tongueAbnormality of head and HP:0004768 Sparse anterior scalp hairAbnormality of head and HP:0000535 Sparse eyebrowAbnormality of head and HP:0000653 Sparse eyelashesAbnormality of head and HP:0005338 Sparse lateral eyebrowAbnormality of head and HP:0007776 Sparse lower eyelashesAbnormality of head and HP:0002209 Sparse scalp hairAbnormality of head and HP:0200102 Sparse/absent eyelashesAbnormality of head and HP:0002491 Spasticity of facial musclesAbnormality of head and HP:0012247 Specific anosmiaAbnormality of head and HP:0004406 Spontaneous, recurrent epistaxisAbnormality of head and HP:0000321 Square faceAbnormality of head and HP:0010280 StomatitisAbnormality of head and HP:0000176 Submucous cleft hard palateAbnormality of head and HP:0009101 Submucous cleft lipAbnormality of head and HP:0011819 Submucous cleft soft palateAbnormality of head and HP:0009938 Sunken cheeksAbnormality of head and HP:0006332 Supernumerary maxillary incisorAbnormality of head and HP:0009934 Supernumerary narisAbnormality of head and HP:0002695 Symmetrical, oval parietal bone defectsAbnormality of head and HP:0000664 SynophrysAbnormality of head and HP:0011087 Talon cuspAbnormality of head and HP:0000679 TaurodontiaAbnormality of head and HP:0007428 Telangiectasia of the oral mucosaAbnormality of head and HP:0000506 TelecanthusAbnormality of head and HP:0012478 Temporomandibular joint ankylosisAbnormality of head and HP:0012479 Temporomandibular joint crepitusAbnormality of head and HP:0011825 Tented philtrumAbnormality of head and HP:0010804 Tented upper lip vermilionAbnormality of head and HP:0009100 Thick anterior alveolar ridgesAbnormality of head and HP:0000574 Thick eyebrowAbnormality of head and HP:0000179 Thick lower lip vermilionAbnormality of head and HP:0009928 Thick nasal alaeAbnormality of head and HP:0009746 Thick nasal septumAbnormality of head and HP:0002737 Thick skull baseAbnormality of head and HP:0000215 Thick upper lip vermilionAbnormality of head and HP:0012471 Thick vermilion borderAbnormality of head and HP:0002684 Thickened calvariaAbnormality of head and HP:0000474 Thickened nuchal skin fold

Abnormality of head and HP:0004495 Thin anteverted naresAbnormality of head and HP:0010539 Thin calvariumAbnormality of head and HP:0010282 Thin lower lip vermilionAbnormality of head and HP:0000219 Thin upper lip vermilionAbnormality of head and HP:0000233 Thin vermilion borderAbnormality of head and HP:0000931 Thinning and bulging of the posterior fossa bonesAbnormality of head and HP:0008009 Three rows of eyelashesAbnormality of head and HP:0012473 Tongue atrophyAbnormality of head and HP:0001308 Tongue fasciculationsAbnormality of head and HP:0000199 Tongue nodulesAbnormality of head and HP:0000227 Tongue telangiectasiaAbnormality of head and HP:0000473 TorticollisAbnormality of head and HP:0100789 Torus palatinusAbnormality of head and HP:0010632 Total anosmiaAbnormality of head and HP:0010634 Total hyposmiaAbnormality of head and HP:0100731 Transverse facial cleftAbnormality of head and HP:0000325 Triangular faceAbnormality of head and HP:0000207 Triangular mouthAbnormality of head and HP:0000451 Triangular nasal tipAbnormality of head and HP:0200096 Triangular-shaped open mouthAbnormality of head and HP:0001128 TrichiasisAbnormality of head and HP:0000243 TrigonocephalyAbnormality of head and HP:0000211 TrismusAbnormality of head and HP:0011478 True anophthalmiaAbnormality of head and HP:0000262 TurricephalyAbnormality of head and HP:0010806 U-Shaped upper lip vermilionAbnormality of head and HP:0000430 Underdeveloped nasal alaeAbnormality of head and HP:0010801 Underdeveloped nasolabial foldAbnormality of head and HP:0009891 Underdeveloped supraorbital ridgesAbnormality of head and HP:0000706 Unerupted toothAbnormality of head and HP:0011315 Unicoronal synostosisAbnormality of head and HP:0011320 Unilambdoid synostosisAbnormality of head and HP:0100333 Unilateral cleft lipAbnormality of head and HP:0100334 Unilateral cleft palateAbnormality of head and HP:0012799 Unilateral facial palsyAbnormality of head and HP:0011480 Unilateral microphthalmosAbnormality of head and HP:0007946 Unilateral narrow palpebral fissureAbnormality of head and HP:0000636 Upper eyelid colobomaAbnormality of head and HP:0012724 Upper eyelid edemaAbnormality of head and HP:0100268 Upper lip pitAbnormality of head and HP:0000582 Upslanted palpebral fissureAbnormality of head and HP:0010805 Upturned corners of mouthAbnormality of head and HP:0000220 Velopharyngeal insufficiencyAbnormality of head and HP:0010559 Vertical clivusAbnormality of head and HP:0011221 Vertical forehead creasesAbnormality of head and HP:0012507 Weakness of orbicularis oculi muscleAbnormality of head and HP:0000465 Webbed neckAbnormality of head and HP:0000346 Whistling appearanceAbnormality of head and HP:0002226 White eyebrowAbnormality of head and HP:0002227 White eyelashes

Abnormality of head and HP:0000260 Wide anterior fontanelAbnormality of head and HP:0010537 Wide cranial suturesAbnormality of head and HP:0000154 Wide mouthAbnormality of head and HP:0012810 Wide nasal baseAbnormality of head and HP:0000431 Wide nasal bridgeAbnormality of head and HP:0012811 Wide nasal ridgeAbnormality of head and HP:0000445 Wide noseAbnormality of head and HP:0005442 Widely patent coronal sutureAbnormality of head and HP:0004492 Widely patent fontanelles and suturesAbnormality of head and HP:0005476 Widely patent sagittal sutureAbnormality of head and HP:0006313 Widely spaced primary teethAbnormality of head and HP:0000687 Widely spaced teethAbnormality of head and HP:0006304 Widely-spaced incisorsAbnormality of head and HP:0001566 Widely-spaced maxillary central incisorsAbnormality of head and HP:0005445 Widened posterior fossaAbnormality of head and HP:0000349 Widow's peakAbnormality of head and HP:0002645 Wormian bonesAbnormality of head and HP:0001114 XanthelasmaAbnormality of head and HP:0000217 XerostomiaAbnormality of head and HP:0006286 Yellow-brown discoloration of the teethAbnormality of head and HP:0004676 prominent supraorbital arches in adult

Abnormality of the endocrine systemAbnormality of the endo HP:0012558 Abnormal T3/T4 ratioAbnormality of the endo HP:0012689 Abnormal pineal melatonin secretionAbnormality of the endo HP:0012684 Abnormal pineal volumeAbnormality of the endo HP:0012504 Abnormal size of pituitary glandAbnormality of the endo HP:0011732 Abnormality of adrenal morphologyAbnormality of the endo HP:0011733 Abnormality of adrenal physiologyAbnormality of the endo HP:0011043 Abnormality of circulating adrenocorticotropin lAbnormality of the endo HP:0012099 Abnormality of circulating catecholamine levelAbnormality of the endo HP:0012112 Abnormality of circulating corticosterone levelAbnormality of the endo HP:0011731 Abnormality of circulating cortisol levelAbnormality of the endo HP:0012111 Abnormality of circulating glucocorticoid levelAbnormality of the endo HP:0003117 Abnormality of circulating hormone levelAbnormality of the endo HP:0004361 Abnormality of circulating leptin levelAbnormality of the endo HP:0012681 Abnormality of pineal morphologyAbnormality of the endo HP:0012688 Abnormality of pineal physiologyAbnormality of the endo HP:0000847 Abnormality of renin-angiotensin systemAbnormality of the endo HP:0000834 Abnormality of the adrenal glandsAbnormality of the endo HP:0011747 Abnormality of the anterior pituitaryAbnormality of the endo HP:0000818 Abnormality of the endocrine systemAbnormality of the endo HP:0000864 Abnormality of the hypothalamus-pituitary axisAbnormality of the endo HP:0000828 Abnormality of the parathyroid glandAbnormality of the endo HP:0011766 Abnormality of the parathyroid morphologyAbnormality of the endo HP:0011767 Abnormality of the parathyroid physiologyAbnormality of the endo HP:0012680 Abnormality of the pineal glandAbnormality of the endo HP:0012503 Abnormality of the pituitary glandAbnormality of the endo HP:0011751 Abnormality of the posterior pituitaryAbnormality of the endo HP:0000820 Abnormality of the thyroid glandAbnormality of the endo HP:0011772 Abnormality of thyroid morphology

Abnormality of the endo HP:0002926 Abnormality of thyroid physiologyAbnormality of the endo HP:0012029 Abnormality of urine hormone levelAbnormality of the endo HP:0008197 Absence of pubertal developmentAbnormality of the endo HP:0008187 Absence of secondary sex characteristicsAbnormality of the endo HP:0100030 Accessory ectopic thyroid tissueAbnormality of the endo HP:0011790 Activating thyroid-stimulating hormone receptoAbnormality of the endo HP:0010512 Adrenal calcificationAbnormality of the endo HP:0011743 Adrenal gland agenesisAbnormality of the endo HP:0008216 Adrenal gland dysgenesisAbnormality of the endo HP:0008221 Adrenal hyperplasiaAbnormality of the endo HP:0000835 Adrenal hypoplasiaAbnormality of the endo HP:0000846 Adrenal insufficiencyAbnormality of the endo HP:0008239 Adrenal medullary hypoplasiaAbnormality of the endo HP:0002717 Adrenal overactivityAbnormality of the endo HP:0000849 Adrenocortical abnormalityAbnormality of the endo HP:0008256 Adrenocortical adenomaAbnormality of the endo HP:0006744 Adrenocortical carcinomaAbnormality of the endo HP:0008186 Adrenocortical cytomegalyAbnormality of the endo HP:0008182 Adrenocortical hypoplasiaAbnormality of the endo HP:0011748 Adrenocorticotropic hormone deficiencyAbnormality of the endo HP:0011749 Adrenocorticotropic hormone excessAbnormality of the endo HP:0011735 Adrenocorticotropin (ACTH) deficient adrenal inAbnormality of the endo HP:0008259 Adrenocorticotropin (ACTH) receptor (ACTHR) Abnormality of the endo HP:0000840 Adrenogenital syndromeAbnormality of the endo HP:0012687 Agenesis of pineal glandAbnormality of the endo HP:0011779 Anaplastic thyroid carcinomaAbnormality of the endo HP:0008226 Androgen insufficiencyAbnormality of the endo HP:0000830 Anterior hypopituitarismAbnormality of the endo HP:0010626 Anterior pituitary agenesisAbnormality of the endo HP:0010625 Anterior pituitary dysgenesisAbnormality of the endo HP:0010627 Anterior pituitary hypoplasiaAbnormality of the endo HP:0011771 Autoimmune hypoparathyroidismAbnormality of the endo HP:0100570 CarcinoidAbnormality of the endo HP:0011734 Central adrenal insufficiencyAbnormality of the endo HP:0000863 Central diabetes insipidusAbnormality of the endo HP:0011787 Central hypothyroidismAbnormality of the endo HP:0008223 Compensated hypothyroidismAbnormality of the endo HP:0008258 Congenital adrenal hyperplasiaAbnormality of the endo HP:0008244 Congenital adrenal hypoplasiaAbnormality of the endo HP:0008251 Congenital goiterAbnormality of the endo HP:0008198 Congenital hypoparathyroidismAbnormality of the endo HP:0000851 Congenital hypothyroidismAbnormality of the endo HP:0011737 Corticotropin-releasing hormone (CRH) deficientAbnormality of the endo HP:0011738 Corticotropin-releasing hormone receptor (CRHAbnormality of the endo HP:0012560 Decreased T3/T4 ratioAbnormality of the endo HP:0002920 Decreased circulating ACTH levelAbnormality of the endo HP:0002924 Decreased circulating aldosterone levelAbnormality of the endo HP:0008163 Decreased circulating cortisol levelAbnormality of the endo HP:0003351 Decreased circulating renin levelAbnormality of the endo HP:0012685 Decreased pineal volume

Abnormality of the endo HP:0008214 Decreased serum estradiolAbnormality of the endo HP:0003292 Decreased serum leptinAbnormality of the endo HP:0008233 Decreased serum progesteroneAbnormality of the endo HP:0008230 Decreased testosterone in malesAbnormality of the endo HP:0000823 Delayed pubertyAbnormality of the endo HP:0011739 Dexamethasone-suppresible primary hyperaldoAbnormality of the endo HP:0000873 Diabetes insipidusAbnormality of the endo HP:0000819 Diabetes mellitusAbnormality of the endo HP:0001953 Diabetic ketoacidosisAbnormality of the endo HP:0100000 Early onset of sexual maturationAbnormality of the endo HP:0011742 Ectopic adrenal glandAbnormality of the endo HP:0011765 Ectopic anterior pituitaryAbnormality of the endo HP:0012731 Ectopic anterior pituitary glandAbnormality of the endo HP:0011769 Ectopic parathyroidAbnormality of the endo HP:0011755 Ectopic posterior pituitaryAbnormality of the endo HP:0100028 Ectopic thyroidAbnormality of the endo HP:0003334 Elevated circulating catecholamine levelAbnormality of the endo HP:0003165 Elevated circulating parathyroid hormone (PTH)Abnormality of the endo HP:0008232 Elevated follicle stimulating hormoneAbnormality of the endo HP:0011969 Elevated luteinizing hormoneAbnormality of the endo HP:0012505 Enlarged pituitary glandAbnormality of the endo HP:0009798 Euthyroid goiterAbnormality of the endo HP:0008247 Euthyroid hyperthyroxinemiaAbnormality of the endo HP:0000866 Euthyroid multinodular goiterAbnormality of the endo HP:0008283 Fasting hyperinsulinemiaAbnormality of the endo HP:0003162 Fasting hypoglycemiaAbnormality of the endo HP:0006731 Follicular thyroid carcinomaAbnormality of the endo HP:0011740 Glucocortocoid-insensitive primary hyperaldosAbnormality of the endo HP:0000853 GoiterAbnormality of the endo HP:0008213 Gonadotropin deficiencyAbnormality of the endo HP:0000837 Gonadotropin excessAbnormality of the endo HP:0100647 Graves diseaseAbnormality of the endo HP:0000824 Growth hormone deficiencyAbnormality of the endo HP:0000845 Growth hormone excessAbnormality of the endo HP:0000872 Hashimoto thyroiditisAbnormality of the endo HP:0003492 High urinary gonadotropins (primary hypogonadism)Abnormality of the endo HP:0006781 Hurthle cell thyroid adenomaAbnormality of the endo HP:0000841 Hyperactive renin-angiotensin systemAbnormality of the endo HP:0000859 HyperaldosteronismAbnormality of the endo HP:0001578 HypercortisolismAbnormality of the endo HP:0000842 HyperinsulinemiaAbnormality of the endo HP:0000825 Hyperinsulinemic hypoglycemiaAbnormality of the endo HP:0000843 HyperparathyroidismAbnormality of the endo HP:0010514 HyperpituitarismAbnormality of the endo HP:0000836 HyperthyroidismAbnormality of the endo HP:0004319 HypoaldosteronismAbnormality of the endo HP:0008220 HypocortisolemiaAbnormality of the endo HP:0000829 HypoparathyroidismAbnormality of the endo HP:0000821 HypothyroidismAbnormality of the endo HP:0003295 Impaired FSH and LH secretion

Abnormality of the endo HP:0011791 Inactivating thyroid-stimulating hormone recepAbnormality of the endo HP:0012559 Increased T3/T4 ratioAbnormality of the endo HP:0003154 Increased circulating ACTH levelAbnormality of the endo HP:0003118 Increased circulating cortisol levelAbnormality of the endo HP:0000848 Increased circulating renin levelAbnormality of the endo HP:0012686 Increased pineal volumeAbnormality of the endo HP:0003152 Increased serum 1,25-dihydroxyvitamin D3Abnormality of the endo HP:0011788 Increased serum free triiodothyronine (fT3)Abnormality of the endo HP:0003144 Increased serum serotoninAbnormality of the endo HP:0012030 Increased urinary cortisol levelAbnormality of the endo HP:0008205 Insulin-dependent but ketosis-resistant diabeteAbnormality of the endo HP:0000831 Insulin-resistant diabetes mellitusAbnormality of the endo HP:0000877 Insulin-resistant diabetes mellitus at pubertyAbnormality of the endo HP:0012197 InsulinomaAbnormality of the endo HP:0006723 Intestinal carcinoidAbnormality of the endo HP:0008236 Isosexual precocious pubertyAbnormality of the endo HP:0002929 Leydig cell insensitivity to gonadotropinAbnormality of the endo HP:0100029 Lingual thyroidAbnormality of the endo HP:0003335 Low gonadotropins (secondary hypogonadism)Abnormality of the endo HP:0003456 Low urinary cyclic AMP response to PTH administrationAbnormality of the endo HP:0008231 Macronodular adrenal hyperplasiaAbnormality of the endo HP:0012342 MacroprolactinomaAbnormality of the endo HP:0009800 Maternal diabetesAbnormality of the endo HP:0004904 Maturity-onset diabetes of the youngAbnormality of the endo HP:0002865 Medullary thyroid carcinomaAbnormality of the endo HP:0012341 MicroprolactinomaAbnormality of the endo HP:0005987 Multinodular goiterAbnormality of the endo HP:0008194 Multiple pancreatic beta-cell adenomasAbnormality of the endo HP:0000857 Neonatal insulin-dependent diabetes mellitusAbnormality of the endo HP:0100641 Neoplasm of the adrenal cortexAbnormality of the endo HP:0100631 Neoplasm of the adrenal glandAbnormality of the endo HP:0100642 Neoplasm of the adrenal medullaAbnormality of the endo HP:0011750 Neoplasm of the anterior pituitaryAbnormality of the endo HP:0100568 Neoplasm of the endocrine systemAbnormality of the endo HP:0100733 Neoplasm of the parathyroid glandAbnormality of the endo HP:0011752 Neoplasm of the posterior pituitaryAbnormality of the endo HP:0100031 Neoplasm of the thyroid glandAbnormality of the endo HP:0009806 Nephrogenic diabetes insipidusAbnormality of the endo HP:0005994 Nodular goiterAbnormality of the endo HP:0011745 Non-secretory adrenocortical adenomaAbnormality of the endo HP:0008261 Pancreatic islet cell adenomaAbnormality of the endo HP:0000871 PanhypopituitarismAbnormality of the endo HP:0002895 Papillary thyroid carcinomaAbnormality of the endo HP:0003466 Paradoxical increased cortisol secretion on dexamethasone suppression testAbnormality of the endo HP:0002897 Parathyroid adenomaAbnormality of the endo HP:0008211 Parathyroid agenesisAbnormality of the endo HP:0006780 Parathyroid carcinomaAbnormality of the endo HP:0011768 Parathyroid dysgenesisAbnormality of the endo HP:0008208 Parathyroid hyperplasiaAbnormality of the endo HP:0000860 Parathyroid hypoplasia

Abnormality of the endo HP:0001580 Pigmented micronodular adrenocortical diseaseAbnormality of the endo HP:0012683 Pineal cystAbnormality of the endo HP:0012682 Pineal gland calcificationAbnormality of the endo HP:0011754 PituicytomaAbnormality of the endo HP:0011758 Pituitary acidophilic stem cell adenomaAbnormality of the endo HP:0002893 Pituitary adenomaAbnormality of the endo HP:0011763 Pituitary carcinomaAbnormality of the endo HP:0008291 Pituitary corticotropic cell adenomaAbnormality of the endo HP:0000839 Pituitary dwarfismAbnormality of the endo HP:0011759 Pituitary gonadotropic cell adenomaAbnormality of the endo HP:0011760 Pituitary growth hormone cell adenomaAbnormality of the endo HP:0008245 Pituitary hypothyroidismAbnormality of the endo HP:0011761 Pituitary null cell adenomaAbnormality of the endo HP:0006767 Pituitary prolactin cell adenomaAbnormality of the endo HP:0008227 Pituitary resistance to thyroid hormoneAbnormality of the endo HP:0011764 Pituitary spindle cell oncocytomaAbnormality of the endo HP:0011762 Pituitary thyrotropic cell adenomaAbnormality of the endo HP:0011756 Posterior pituitary agenesisAbnormality of the endo HP:0011753 Posterior pituitary dysgenesisAbnormality of the endo HP:0011757 Posterior pituitary hypoplasiaAbnormality of the endo HP:0000826 Precocious pubertyAbnormality of the endo HP:0010465 Precocious puberty in femalesAbnormality of the endo HP:0008185 Precocious puberty in malesAbnormality of the endo HP:0012412 Premature adrenarcheAbnormality of the endo HP:0012411 Premature pubarcheAbnormality of the endo HP:0010314 Premature thelarcheAbnormality of the endo HP:0008207 Primary adrenal insufficiencyAbnormality of the endo HP:0008193 Primary gonadal insufficiencyAbnormality of the endo HP:0011736 Primary hyperaldosteronismAbnormality of the endo HP:0001579 Primary hypercorticolismAbnormality of the endo HP:0008200 Primary hyperparathyroidismAbnormality of the endo HP:0000832 Primary hypothyroidismAbnormality of the endo HP:0008202 Prolactin deficiencyAbnormality of the endo HP:0000870 Prolactin excessAbnormality of the endo HP:0008242 PseudohypoaldosteronismAbnormality of the endo HP:0000852 PseudohypoparathyroidismAbnormality of the endo HP:0008647 Pubertal developmental failure in femalesAbnormality of the endo HP:0008373 Puberty and gonadal disordersAbnormality of the endo HP:0008240 Secondary growth hormone deficiencyAbnormality of the endo HP:0011741 Secondary hyperaldosteronismAbnormality of the endo HP:0011744 Secondary hypercorticolismAbnormality of the endo HP:0000867 Secondary hyperparathyroidismAbnormality of the endo HP:0011746 Secretory adrenocortical adenomaAbnormality of the endo HP:0006722 Small intestine carcinoidAbnormality of the endo HP:0012506 Small pituitary glandAbnormality of the endo HP:0011770 Tertiary hyperparathyroidismAbnormality of the endo HP:0010518 Thyroglossal cystAbnormality of the endo HP:0011781 Thyroid C cell hyperplasiaAbnormality of the endo HP:0000854 Thyroid adenomaAbnormality of the endo HP:0008191 Thyroid agenesis

Abnormality of the endo HP:0011778 Thyroid atypical adenomaAbnormality of the endo HP:0002890 Thyroid carcinomaAbnormality of the endo HP:0011782 Thyroid crisisAbnormality of the endo HP:0008263 Thyroid defect in oxidation and organification of iodideAbnormality of the endo HP:0008188 Thyroid dysgenesisAbnormality of the endo HP:0011774 Thyroid follicular adenomaAbnormality of the endo HP:0008225 Thyroid follicular hyperplasiaAbnormality of the endo HP:0011780 Thyroid hemiagenesisAbnormality of the endo HP:0002930 Thyroid hormone receptor defectAbnormality of the endo HP:0008249 Thyroid hyperplasiaAbnormality of the endo HP:0005990 Thyroid hypoplasiaAbnormality of the endo HP:0008229 Thyroid lymphangiectasiaAbnormality of the endo HP:0011775 Thyroid macrofollicular adenomaAbnormality of the endo HP:0011776 Thyroid microfollicular adenomaAbnormality of the endo HP:0011777 Thyroid papillary adenomaAbnormality of the endo HP:0002925 Thyroid-stimulating hormone excessAbnormality of the endo HP:0011789 Thyroid-stimulating hormone receptor (TSHR) defectAbnormality of the endo HP:0100646 ThyroiditisAbnormality of the endo HP:0011783 Thyrotoxicosis from ectopic thyroid tissueAbnormality of the endo HP:0011784 Thyrotoxicosis with diffuse goiterAbnormality of the endo HP:0011785 Thyrotoxicosis with toxic multinodular goitreAbnormality of the endo HP:0011786 Thyrotoxicosis with toxic single thyroid noduleAbnormality of the endo HP:0008255 Transient neonatal diabetes mellitusAbnormality of the endo HP:0100651 Type I diabetes mellitusAbnormality of the endo HP:0005978 Type II diabetes mellitusAbnormality of the endo HP:0011773 Uninodular goiter

Abnormality of blood and blood-forming tissuesAbnormality of blood an HP:0012527 Abnormal alpha granule contentAbnormality of blood an HP:0012525 Abnormal alpha granule distributionAbnormality of blood an HP:0012483 Abnormal alpha granulesAbnormality of blood an HP:0001892 Abnormal bleedingAbnormality of blood an HP:0002963 Abnormal delayed hypersensitivity skin testAbnormality of blood an HP:0012529 Abnormal dense granule contentAbnormality of blood an HP:0012484 Abnormal dense granulesAbnormality of blood an HP:0012491 Abnormal dense tubular systemAbnormality of blood an HP:0011902 Abnormal hemoglobinAbnormality of blood an HP:0010701 Abnormal immunoglobulin levelAbnormality of blood an HP:0011893 Abnormal leukocyte countAbnormality of blood an HP:0012310 Abnormal monocyte countAbnormality of blood an HP:0012177 Abnormal natural killer cell physiologyAbnormality of blood an HP:0011991 Abnormal neutrophil cell numberAbnormality of blood an HP:0012528 Abnormal number of alpha granulesAbnormality of blood an HP:0012530 Abnormal number of dense granulesAbnormality of blood an HP:0012131 Abnormal number of erythroid precursorsAbnormality of blood an HP:0012137 Abnormal number of granulocyte precursorsAbnormality of blood an HP:0011873 Abnormal platelet countAbnormality of blood an HP:0011869 Abnormal platelet functionAbnormality of blood an HP:0011883 Abnormal platelet granulesAbnormality of blood an HP:0011878 Abnormal platelet membrane protein expressioAbnormality of blood an HP:0011875 Abnormal platelet morphology

Abnormality of blood an HP:0012524 Abnormal platelet shapeAbnormality of blood an HP:0011876 Abnormal platelet volumeAbnormality of blood an HP:0012485 Abnormal surface-connected open canalicular Abnormality of blood an HP:0001977 Abnormal thrombosisAbnormality of blood an HP:0011884 Abnormal umbilical stump bleedingAbnormality of blood an HP:0001871 Abnormality of blood and blood-forming tissueAbnormality of blood an HP:0012146 Abnormality of von Willebrand factorAbnormality of blood an HP:0010975 Abnormality of B cell numberAbnormality of blood an HP:0005372 Abnormality of B cell physiologyAbnormality of blood an HP:0002846 Abnormality of B cellsAbnormality of blood an HP:0011839 Abnormality of T cell numberAbnormality of blood an HP:0011840 Abnormality of T cell physiologyAbnormality of blood an HP:0002843 Abnormality of T cellsAbnormality of blood an HP:0001912 Abnormality of basophilsAbnormality of blood an HP:0005561 Abnormality of bone marrow cell morphologyAbnormality of blood an HP:0012129 Abnormality of bone marrow stromal cellsAbnormality of blood an HP:0012130 Abnormality of cells of the erythroid lineageAbnormality of blood an HP:0012135 Abnormality of cells of the granulocytic lineageAbnormality of blood an HP:0012140 Abnormality of cells of the lymphoid lineageAbnormality of blood an HP:0012143 Abnormality of cells of the megakaryocyte lineAbnormality of blood an HP:0012144 Abnormality of cells of the monocyte/macrophage lineageAbnormality of blood an HP:0011898 Abnormality of circulating fibrinogenAbnormality of blood an HP:0001928 Abnormality of coagulationAbnormality of blood an HP:0001879 Abnormality of eosinophilsAbnormality of blood an HP:0001877 Abnormality of erythrocytesAbnormality of blood an HP:0001911 Abnormality of granulocytesAbnormality of blood an HP:0001881 Abnormality of leukocytesAbnormality of blood an HP:0004332 Abnormality of lymphocytesAbnormality of blood an HP:0004311 Abnormality of macrophagesAbnormality of blood an HP:0100494 Abnormality of mast cellsAbnormality of blood an HP:0012145 Abnormality of multiple cell lineages in the bone marrowAbnormality of blood an HP:0010974 Abnormality of myeloid leukocytesAbnormality of blood an HP:0012176 Abnormality of natural killer cellsAbnormality of blood an HP:0011992 Abnormality of neutrophil morphologyAbnormality of blood an HP:0011990 Abnormality of neutrophil physiologyAbnormality of blood an HP:0001874 Abnormality of neutrophilsAbnormality of blood an HP:0010977 Abnormality of phagocytesAbnormality of blood an HP:0012200 Abnormality of prothrombinAbnormality of blood an HP:0004312 Abnormality of reticulocytesAbnormality of blood an HP:0003256 Abnormality of the coagulation cascadeAbnormality of blood an HP:0010990 Abnormality of the common coagulation pathwAbnormality of blood an HP:0010988 Abnormality of the extrinsic pathwayAbnormality of blood an HP:0010989 Abnormality of the intrinsic pathwayAbnormality of blood an HP:0001872 Abnormality of thrombocytesAbnormality of blood an HP:0005422 Absence of CD8+ T cellsAbnormality of blood an HP:0010971 Absence of Lutheran antigen on erythrocytesAbnormality of blood an HP:0012526 Absence of alpha granulesAbnormality of blood an HP:0002723 Absence of bactericidal oxidative 'respiratory burst' in phagocytesAbnormality of blood an HP:0005354 Absent cellular immunityAbnormality of blood an HP:0002971 Absent microvilli on the surface of peripheral blood lymphocytes

Abnormality of blood an HP:0012551 Absent neutrophil specific granulesAbnormality of blood an HP:0005424 Absent specific antibody responseAbnormality of blood an HP:0001927 AcanthocytosisAbnormality of blood an HP:0011880 Acute disseminated intravascular coagulationAbnormality of blood an HP:0002488 Acute leukemiaAbnormality of blood an HP:0006721 Acute lymphatic leukemiaAbnormality of blood an HP:0006733 Acute megakaryocytic leukemiaAbnormality of blood an HP:0004845 Acute monocytic leukemiaAbnormality of blood an HP:0004808 Acute myeloid leukemiaAbnormality of blood an HP:0004820 Acute myelomonocytic leukemiaAbnormality of blood an HP:0004836 Acute promyelocytic leukemiaAbnormality of blood an HP:0004432 AgammaglobulinemiaAbnormality of blood an HP:0012234 AgranulocytosisAbnormality of blood an HP:0004859 Amegakaryocytic thrombocytopeniaAbnormality of blood an HP:0012193 Anaplastic large-cell lymphomaAbnormality of blood an HP:0001903 AnemiaAbnormality of blood an HP:0011895 Anemia due to reduced life span of red cellsAbnormality of blood an HP:0010972 Anemia of inadequate productionAbnormality of blood an HP:0011273 AnisocytosisAbnormality of blood an HP:0004823 AnisopoikilocytosisAbnormality of blood an HP:0001915 Aplastic anemiaAbnormality of blood an HP:0004420 Arterial thrombosisAbnormality of blood an HP:0004822 Atypical elliptocytosisAbnormality of blood an HP:0001890 Autoimmune hemolytic anemiaAbnormality of blood an HP:0001904 Autoimmune neutropeniaAbnormality of blood an HP:0001973 Autoimmune thrombocytopeniaAbnormality of blood an HP:0010976 B lymphocytopeniaAbnormality of blood an HP:0012191 B-cell lymphomaAbnormality of blood an HP:0012149 Bilineage myelodysplasiaAbnormality of blood an HP:0005531 Biphenotypic acute leukaemiaAbnormality of blood an HP:0011888 Bleeding requiring red cell transfusionAbnormality of blood an HP:0011889 Bleeding with minor or no traumaAbnormality of blood an HP:0010970 Blood group antigen abnormalityAbnormality of blood an HP:0005528 Bone marrow hypocellularityAbnormality of blood an HP:0004333 Bone-marrow foam cellsAbnormality of blood an HP:0005305 Cerebral venous thrombosisAbnormality of blood an HP:0005520 Chronic disseminated intravascular coagulationAbnormality of blood an HP:0004870 Chronic hemolytic anemiaAbnormality of blood an HP:0005558 Chronic leukemiaAbnormality of blood an HP:0005550 Chronic lymphatic leukemiaAbnormality of blood an HP:0005506 Chronic myelogenous leukemiaAbnormality of blood an HP:0012325 Chronic myelomonocytic leukemiaAbnormality of blood an HP:0004863 Compensated hemolytic anemiaAbnormality of blood an HP:0005541 Congenital agranulocytosisAbnormality of blood an HP:0004804 Congenital hemolytic anemiaAbnormality of blood an HP:0004810 Congenital hypoplastic anemiaAbnormality of blood an HP:0005549 Congenital neutropeniaAbnormality of blood an HP:0001905 Congenital thrombocytopeniaAbnormality of blood an HP:0004844 Coombs-positive hemolytic anemiaAbnormality of blood an HP:0012192 Cutaneous T-cell lymphoma

Abnormality of blood an HP:0002965 Cutaneous anergyAbnormality of blood an HP:0005419 Decreased T cell activationAbnormality of blood an HP:0005537 Decreased mean platelet volumeAbnormality of blood an HP:0005407 Decreased number of CD4+ T cellsAbnormality of blood an HP:0005415 Decreased number of CD8+ T cellsAbnormality of blood an HP:0011882 Decreased platelet P2Y12 receptorAbnormality of blood an HP:0001975 Decreased platelet glycoprotein IIb-IIIaAbnormality of blood an HP:0011879 Decreased platelet glycoprotein Ib-IX-VAbnormality of blood an HP:0011881 Decreased platelet glycoprotein VIAbnormality of blood an HP:0002625 Deep venous thrombosisAbnormality of blood an HP:0005384 Defective B cell activationAbnormality of blood an HP:0005357 Defective B cell differentiationAbnormality of blood an HP:0002731 Defective lymphocyte apoptosisAbnormality of blood an HP:0005521 Disseminated intravascular coagulationAbnormality of blood an HP:0012235 Drug-induced agranulocytosisAbnormality of blood an HP:0004817 Drug-sensitive hemolytic anemiaAbnormality of blood an HP:0011901 DysfibrinogenemiaAbnormality of blood an HP:0002961 DysgammaglobulinemiaAbnormality of blood an HP:0012134 Dysplastic erythropoesisAbnormality of blood an HP:0012136 Dysplastic granulopoesisAbnormality of blood an HP:0011996 Elevated factor V activityAbnormality of blood an HP:0004445 ElliptocytosisAbnormality of blood an HP:0001880 EosinophiliaAbnormality of blood an HP:0004802 Episodic hemolytic anemiaAbnormality of blood an HP:0005518 Erythrocyte macrocytosisAbnormality of blood an HP:0012132 Erythroid hyperplasiaAbnormality of blood an HP:0012133 Erythroid hypoplasiaAbnormality of blood an HP:0005397 Exaggerated cellular immune processesAbnormality of blood an HP:0005535 Exercise-induced hemolysisAbnormality of blood an HP:0001978 Extramedullary hematopoiesisAbnormality of blood an HP:0008354 Factor X activation deficiencyAbnormality of blood an HP:0004814 Fava bean-induced hemolytic anemiaAbnormality of blood an HP:0004851 Folate-responsive megaloblastic anemiaAbnormality of blood an HP:0004826 Folate-unresponsive megaloblastic anemiaAbnormality of blood an HP:0001902 Giant plateletsAbnormality of blood an HP:0012138 Granulocytic hyperplasiaAbnormality of blood an HP:0012139 Granulocytic hypoplasiaAbnormality of blood an HP:0001913 GranulocytopeniaAbnormality of blood an HP:0002955 GranulomatosisAbnormality of blood an HP:0005511 Heinz body anemiaAbnormality of blood an HP:0004377 Hematological neoplasmAbnormality of blood an HP:0005507 Hemoglobin BartsAbnormality of blood an HP:0011903 Hemoglobin HAbnormality of blood an HP:0001878 Hemolytic anemiaAbnormality of blood an HP:0012156 HemophagocytosisAbnormality of blood an HP:0011874 Heparin-induced thrombocytopeniaAbnormality of blood an HP:0100727 HistiocytosisAbnormality of blood an HP:0012189 Hodgkin lymphomaAbnormality of blood an HP:0004857 Hyperchromic macrocytic anemiaAbnormality of blood an HP:0100724 Hypercoagulability

Abnormality of blood an HP:0011899 HyperfibrinogenemiaAbnormality of blood an HP:0010702 HypergammaglobulinemiaAbnormality of blood an HP:0004821 Hypersegmentation of neutrophil nucleiAbnormality of blood an HP:0001931 Hypochromic anemiaAbnormality of blood an HP:0004840 Hypochromic microcytic anemiaAbnormality of blood an HP:0011900 HypofibrinogenemiaAbnormality of blood an HP:0004313 HypogammaglobulinemiaAbnormality of blood an HP:0001908 Hypoplastic anemiaAbnormality of blood an HP:0011447 Hyposegmentation of neutrophil nucleiAbnormality of blood an HP:0002720 IgA deficiencyAbnormality of blood an HP:0005479 IgE deficiencyAbnormality of blood an HP:0004315 IgG deficiencyAbnormality of blood an HP:0002850 IgM deficiencyAbnormality of blood an HP:0005560 Imbalanced hemoglobin synthesisAbnormality of blood an HP:0008348 Immunoglobulin IgG2 deficiencyAbnormality of blood an HP:0004866 Impaired ADP-induced platelet aggregationAbnormality of blood an HP:0002959 Impaired Ig class switch recombinationAbnormality of blood an HP:0005435 Impaired T cell functionAbnormality of blood an HP:0011870 Impaired arachidonic acid-induced platelet aggAbnormality of blood an HP:0008320 Impaired collagen-induced platelet aggregationAbnormality of blood an HP:0008148 Impaired epinephrine-induced platelet aggregatAbnormality of blood an HP:0003347 Impaired lymphocyte transformation with phytoAbnormality of blood an HP:0002847 Impaired memory B-cell generationAbnormality of blood an HP:0011993 Impaired neutrophil bactericidal activityAbnormality of blood an HP:0005512 Impaired neutrophil killing of staphylococciAbnormality of blood an HP:0008352 Impaired platelet adhesionAbnormality of blood an HP:0003540 Impaired platelet aggregationAbnormality of blood an HP:0011871 Impaired ristocetin-induced platelet aggregatioAbnormality of blood an HP:0011872 Impaired thrombin-induced platelet aggregationAbnormality of blood an HP:0011894 Impaired thromboxane A2 agonist-induced plateAbnormality of blood an HP:0005404 Increase in B cell numberAbnormality of blood an HP:0100828 Increase in T cell numberAbnormality of blood an HP:0003261 Increased IgA levelAbnormality of blood an HP:0003212 Increased IgE levelAbnormality of blood an HP:0003237 Increased IgG levelAbnormality of blood an HP:0003496 Increased IgM levelAbnormality of blood an HP:0005413 Increased alpha-globulinAbnormality of blood an HP:0001899 Increased hematocritAbnormality of blood an HP:0001900 Increased hemoglobinAbnormality of blood an HP:0004825 Increased hemoglobin oxygen affinityAbnormality of blood an HP:0011877 Increased mean platelet volumeAbnormality of blood an HP:0005513 Increased megakaryocyte countAbnormality of blood an HP:0012552 Increased neutrophil nuclear projectionsAbnormality of blood an HP:0002851 Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptorsAbnormality of blood an HP:0002845 Increased number of peripheral CD3+ T cellsAbnormality of blood an HP:0002853 Increased proportion of HLA DR+ and CD57+ T cellsAbnormality of blood an HP:0001898 Increased red blood cell massAbnormality of blood an HP:0008269 Increased red cell hemolysis by shear stressAbnormality of blood an HP:0005502 Increased red cell osmotic fragilityAbnormality of blood an HP:0005546 Increased red cell osmotic resistance

Abnormality of blood an HP:0008346 Increased red cell sickling tendencyAbnormality of blood an HP:0004854 Intermittent thrombocytopeniaAbnormality of blood an HP:0001891 Iron deficiency anemiaAbnormality of blood an HP:0012209 Juvenile myelomonocytic leukemiaAbnormality of blood an HP:0001909 LeukemiaAbnormality of blood an HP:0001974 LeukocytosisAbnormality of blood an HP:0001882 LeukopeniaAbnormality of blood an HP:0100827 LymphocytosisAbnormality of blood an HP:0005526 Lymphoid leukemiaAbnormality of blood an HP:0002665 LymphomaAbnormality of blood an HP:0001888 LymphopeniaAbnormality of blood an HP:0005523 Lymphoproliferative disorderAbnormality of blood an HP:0001972 Macrocytic anemiaAbnormality of blood an HP:0005532 Macrocytic dyserythropoietic anemiaAbnormality of blood an HP:0005524 Macrocytic hemolytic diseaseAbnormality of blood an HP:0006782 Malignant eosinophil proliferationAbnormality of blood an HP:0005409 Markedly reduced T cell functionAbnormality of blood an HP:0100495 MastocytosisAbnormality of blood an HP:0005548 MegakaryocytopeniaAbnormality of blood an HP:0001889 Megaloblastic anemiaAbnormality of blood an HP:0001980 Megaloblastic bone marrowAbnormality of blood an HP:0200143 Megaloblastic erythroid hyperplasiaAbnormality of blood an HP:0012119 MethemoglobinemiaAbnormality of blood an HP:0001937 Microangiopathic hemolytic anemiaAbnormality of blood an HP:0001935 Microcytic anemiaAbnormality of blood an HP:0004835 MicrospherocytosisAbnormality of blood an HP:0012312 MonocytopeniaAbnormality of blood an HP:0012311 MonocytosisAbnormality of blood an HP:0012148 Multiple lineage myelodysplasiaAbnormality of blood an HP:0006775 Multiple myelomaAbnormality of blood an HP:0002863 MyelodysplasiaAbnormality of blood an HP:0011974 MyelofibrosisAbnormality of blood an HP:0012324 Myeloid leukemiaAbnormality of blood an HP:0005547 Myeloproliferative disorderAbnormality of blood an HP:0003203 Negative nitroblue tetrazolium (NBT) reduction Abnormality of blood an HP:0004809 Neonatal alloimmune thrombocytopeniaAbnormality of blood an HP:0001875 NeutropeniaAbnormality of blood an HP:0008264 Neutrophil inclusion bodiesAbnormality of blood an HP:0011897 NeutrophilliaAbnormality of blood an HP:0012539 Non-Hodgkin lymphomaAbnormality of blood an HP:0012220 Non-caseating epithelioid cell granulomatosisAbnormality of blood an HP:0001930 Nonspherocytic hemolytic anemiaAbnormality of blood an HP:0001895 Normochromic anemiaAbnormality of blood an HP:0004856 Normochromic microcytic anemiaAbnormality of blood an HP:0001897 Normocytic anemiaAbnormality of blood an HP:0004819 Normocytic hypoplastic anemiaAbnormality of blood an HP:0001876 PancytopeniaAbnormality of blood an HP:0003139 PanhypogammaglobulinemiaAbnormality of blood an HP:0011837 Partial IgA deficiencyAbnormality of blood an HP:0002641 Peripheral thrombosis

Abnormality of blood an HP:0011904 Persistence of hemoglobin FAbnormality of blood an HP:0001934 Persistent bleeding after traumaAbnormality of blood an HP:0004848 Ph-positive acute lymphoblastic leukemiaAbnormality of blood an HP:0011857 PlasmacytomaAbnormality of blood an HP:0004447 PoikilocytosisAbnormality of blood an HP:0003459 Polyclonal elevation of IgMAbnormality of blood an HP:0001901 PolycythemiaAbnormality of blood an HP:0011891 Post-partum hemorrhageAbnormality of blood an HP:0004813 Post-transfusion thrombocytopeniaAbnormality of blood an HP:0004812 Pre-B-cell acute lymphoblastic leukemiaAbnormality of blood an HP:0005402 Primary T-lymphocyte immune abnormalitiesAbnormality of blood an HP:0006298 Prolonged bleeding after dental extractionAbnormality of blood an HP:0004846 Prolonged bleeding after surgeryAbnormality of blood an HP:0011890 Prolonged bleeding following procedureAbnormality of blood an HP:0003010 Prolonged bleeding timeAbnormality of blood an HP:0003645 Prolonged partial thromboplastin timeAbnormality of blood an HP:0008151 Prolonged prothrombin timeAbnormality of blood an HP:0005542 Prolonged whole-blood clotting timeAbnormality of blood an HP:0012410 Pure red cell aplasiaAbnormality of blood an HP:0005522 Pyridoxine-responsive sideroblastic anemiaAbnormality of blood an HP:0003339 Pyrimidine-responsive megaloblastic anemiaAbnormality of blood an HP:0004839 PyropoikilocytosisAbnormality of blood an HP:0004850 Recurrent deep vein thrombosisAbnormality of blood an HP:0004831 Recurrent thromboembolismAbnormality of blood an HP:0004419 Recurrent thrombophlebitisAbnormality of blood an HP:0005540 Red blood cell keratocytosisAbnormality of blood an HP:0011907 Reduced alpha/beta synthesis ratioAbnormality of blood an HP:0001976 Reduced antithrombin III activityAbnormality of blood an HP:0011906 Reduced beta/alpha synthesis ratioAbnormality of blood an HP:0008165 Reduced circulating T-helper cellsAbnormality of blood an HP:0002972 Reduced delayed hypersensitivityAbnormality of blood an HP:0011858 Reduced factor IX activityAbnormality of blood an HP:0003225 Reduced factor V activityAbnormality of blood an HP:0008169 Reduced factor VII activityAbnormality of blood an HP:0003125 Reduced factor VIII activityAbnormality of blood an HP:0008321 Reduced factor X activityAbnormality of blood an HP:0001929 Reduced factor XI activityAbnormality of blood an HP:0004841 Reduced factor XII activityAbnormality of blood an HP:0008357 Reduced factor XIII activityAbnormality of blood an HP:0011905 Reduced hemoglobin AAbnormality of blood an HP:0005527 Reduced kininogen activityAbnormality of blood an HP:0001983 Reduced lymphocyte surface expression of CD4Abnormality of blood an HP:0012178 Reduced natural killer cell activityAbnormality of blood an HP:0005543 Reduced protein C activityAbnormality of blood an HP:0004855 Reduced protein S activityAbnormality of blood an HP:0012201 Reduced prothrombin activityAbnormality of blood an HP:0003337 Reduced prothrombin consumptionAbnormality of blood an HP:0012147 Reduced quantity of Von Willebrand factorAbnormality of blood an HP:0008330 Reduced von Willebrand factor activityAbnormality of blood an HP:0005400 Reduction of neutrophil motility

Abnormality of blood an HP:0005505 Refractory anemiaAbnormality of blood an HP:0004828 Refractory anemia with ringed sideroblastsAbnormality of blood an HP:0004864 Refractory sideroblastic anemiaAbnormality of blood an HP:0012175 Resistance to activated protein CAbnormality of blood an HP:0001896 ReticulocytopeniaAbnormality of blood an HP:0001923 ReticulocytosisAbnormality of blood an HP:0001981 SchistocytosisAbnormality of blood an HP:0001982 Sea-blue histiocytosisAbnormality of blood an HP:0004433 Secretory IgA deficiencyAbnormality of blood an HP:0005365 Severe B lymphocytopeniaAbnormality of blood an HP:0005379 Severe T lymphocytopeniaAbnormality of blood an HP:0001924 Sideroblastic anemiaAbnormality of blood an HP:0012150 Single lineage myelodysplasiaAbnormality of blood an HP:0002848 Specific anti-polysaccharide antibody deficiencAbnormality of blood an HP:0012475 Specific antibody deficiencyAbnormality of blood an HP:0012476 Specific pneumococcal antibody deficiencyAbnormality of blood an HP:0004444 SpherocytosisAbnormality of blood an HP:0005525 Spontaneous hemolytic crisesAbnormality of blood an HP:0004446 StomatocytosisAbnormality of blood an HP:0002638 Superficial thrombophlebitisAbnormality of blood an HP:0005403 T lymphocytopeniaAbnormality of blood an HP:0006727 T-cell acute lymphoblastic leukemiasAbnormality of blood an HP:0005539 T-cell chronic lymphocytic lymphoma/leukemiaAbnormality of blood an HP:0012190 T-cell lymphomaAbnormality of blood an HP:0005517 T-cell lymphoma/leukemiaAbnormality of blood an HP:0004860 Thiamine-responsive megaloblastic anemiaAbnormality of blood an HP:0001873 ThrombocytopeniaAbnormality of blood an HP:0001894 ThrombocytosisAbnormality of blood an HP:0001727 Thromboembolic strokeAbnormality of blood an HP:0001907 ThromboembolismAbnormality of blood an HP:0004418 ThrombophlebitisAbnormality of blood an HP:0003460 Total immunoglobulin A deficiencyAbnormality of blood an HP:0005510 Transient erythroblastopeniaAbnormality of blood an HP:0005432 Transient hypogammaglobulinemia of infancyAbnormality of blood an HP:0005534 Transient myeloproliferative syndromeAbnormality of blood an HP:0001922 Vacuolated lymphocytesAbnormality of blood an HP:0004936 Venous thrombosisAbnormality of blood an HP:0005508 Waldenstrom macroglobulinemiaAbnormality of blood an HP:0004861 refractory macrocytic anemia

Abnormality of the respiratory systemAbnormality of the respi HP:0012258 Abnormal axonemal organization of motile ciliaAbnormality of the respi HP:0012415 Abnormal blood gas levelAbnormality of the respi HP:0012260 Abnormal central microtubular pair morphology oAbnormality of the respi HP:0012262 Abnormal ciliary motilityAbnormality of the respi HP:0002101 Abnormal lung lobationAbnormality of the respi HP:0002793 Abnormal pattern of respirationAbnormality of the respi HP:0006529 Abnormal pulmonary lymphaticsAbnormality of the respi HP:0012253 Abnormal respiratory epithelium morphologyAbnormality of the respi HP:0005938 Abnormal respiratory motile cilium morphologyAbnormality of the respi HP:0012261 Abnormal respiratory motile cilium physiology

Abnormality of the respi HP:0012252 Abnormal respiratory system morphologyAbnormality of the respi HP:0011615 Abnormality of pulmonary situsAbnormality of the respi HP:0008744 Abnormality of the aryepiglottic foldAbnormality of the respi HP:0002109 Abnormality of the bronchiAbnormality of the respi HP:0005483 Abnormality of the epiglottisAbnormality of the respi HP:0001600 Abnormality of the larynxAbnormality of the respi HP:0002088 Abnormality of the lungAbnormality of the respi HP:0002103 Abnormality of the pleuraAbnormality of the respi HP:0002086 Abnormality of the respiratory systemAbnormality of the respi HP:0002778 Abnormality of the tracheaAbnormality of the respi HP:0005607 Abnormality of the tracheobronchial systemAbnormality of the respi HP:0002087 Abnormality of the upper respiratory tractAbnormality of the respi HP:0008777 Abnormality of the vocal cordsAbnormality of the respi HP:0012264 Absent central microtubular pair morphology of mAbnormality of the respi HP:0012267 Absent ciliary axoneme radial spokesAbnormality of the respi HP:0012259 Absent inner and outer dynein armsAbnormality of the respi HP:0012257 Absent inner dynein armsAbnormality of the respi HP:0012256 Absent outer dynein armsAbnormality of the respi HP:0200106 Absent/shortened dynein armsAbnormality of the respi HP:0200109 Absent/shortened outer dynein armsAbnormality of the respi HP:0011952 Acute aspiration pneumoniaAbnormality of the respi HP:0012388 Acute bronchitisAbnormality of the respi HP:0011949 Acute infectious pneumoniaAbnormality of the respi HP:0011948 Acute respiratory tract infectionAbnormality of the respi HP:0006519 Alveolar cell carcinomaAbnormality of the respi HP:0006517 Alveolar proteinosisAbnormality of the respi HP:0004468 Anomalous tracheal cartilageAbnormality of the respi HP:0005956 Anteroposteriorly shortened larynxAbnormality of the respi HP:0008753 Aplasia of the epiglottisAbnormality of the respi HP:0010565 Aplasia/Hypoplasia of the EpiglottisAbnormality of the respi HP:0006703 Aplasia/Hypoplasia of the lungsAbnormality of the respi HP:0002104 ApneaAbnormality of the respi HP:0005949 Apneic episodes in infancyAbnormality of the respi HP:0002872 Apneic episodes precipitated by illness, fatigue,Abnormality of the respi HP:0002835 AspirationAbnormality of the respi HP:0011951 Aspiration pneumoniaAbnormality of the respi HP:0012042 Aspirin-induced asthmaAbnormality of the respi HP:0002099 AsthmaAbnormality of the respi HP:0100750 AtelectasisAbnormality of the respi HP:0010564 Bifid epiglottisAbnormality of the respi HP:0012820 Biilateral vocal cord paralysisAbnormality of the respi HP:0005944 Bilateral lung agenesisAbnormality of the respi HP:0011861 Bilateral trilobed lungsAbnormality of the respi HP:0012822 Bilateral vocal cord paresisAbnormality of the respi HP:0008756 Bowing of the vocal cordsAbnormality of the respi HP:0005957 Breathing dysregulationAbnormality of the respi HP:0006539 Bronchial cartilage hypoplasiaAbnormality of the respi HP:0002110 BronchiectasisAbnormality of the respi HP:0011950 BronchiolitisAbnormality of the respi HP:0011946 Bronchiolitis obliterans

Abnormality of the respi HP:0011945 Bronchiolitis obliterans organizing pneumoniaAbnormality of the respi HP:0012387 BronchitisAbnormality of the respi HP:0006533 BronchodysplasiaAbnormality of the respi HP:0100730 Bronchogenic cystAbnormality of the respi HP:0002780 BronchomalaciaAbnormality of the respi HP:0010777 BronchomegalyAbnormality of the respi HP:0010960 Bronchopulmonary sequestrationAbnormality of the respi HP:0006543 Cardiorespiratory arrestAbnormality of the respi HP:0008747 Cartilaginous ossification of larynxAbnormality of the respi HP:0005347 Cartilaginous tracheaAbnormality of the respi HP:0002871 Central apneaAbnormality of the respi HP:0007110 Central hypoventilationAbnormality of the respi HP:0012196 Cheyne-Stokes respirationAbnormality of the respi HP:0006528 Chronic lung diseaseAbnormality of the respi HP:0006541 Chronic obstructive airway disease from birthAbnormality of the respi HP:0006510 Chronic obstructive pulmonary diseaseAbnormality of the respi HP:0010310 ChylothoraxAbnormality of the respi HP:0012265 Ciliary dyskinesiaAbnormality of the respi HP:0010959 Congenital cystic adenomatoid malformation of Abnormality of the respi HP:0004886 Congenital laryngeal stridorAbnormality of the respi HP:0012735 CoughAbnormality of the respi HP:0005948 Cystic lung diseaseAbnormality of the respi HP:0005952 Decreased pulmonary functionAbnormality of the respi HP:0005947 Decreased sensitivity to hypoxemiaAbnormality of the respi HP:0005942 Desquamative interstitial pneumonitisAbnormality of the respi HP:0002207 Diffuse reticular or finely nodular infiltrationsAbnormality of the respi HP:0006509 Diverticulosis of tracheaAbnormality of the respi HP:0012255 Dynein arm defect of motile ciliaAbnormality of the respi HP:0002094 DyspneaAbnormality of the respi HP:0002097 EmphysemaAbnormality of the respi HP:0004881 Episodic hypoventilationAbnormality of the respi HP:0004885 Episodic respiratory distressAbnormality of the respi HP:0002876 Episodic tachypneaAbnormality of the respi HP:0012271 Episodic upper airway obstructionAbnormality of the respi HP:0012652 Exercise-induced asthmaAbnormality of the respi HP:0002875 Exertional dyspneaAbnormality of the respi HP:0010962 Extralobar sequestrationAbnormality of the respi HP:0006544 Extrapulmonary sequestrumAbnormality of the respi HP:0011921 Exudative pleural effusionAbnormality of the respi HP:0006552 Fibrocystic lung diseaseAbnormality of the respi HP:0002795 Functional respiratory abnormalityAbnormality of the respi HP:0002105 HemoptysisAbnormality of the respi HP:0012151 HemothoraxAbnormality of the respi HP:0012416 HypercapniaAbnormality of the respi HP:0012419 HyperoxemiaAbnormality of the respi HP:0006516 Hypersensitivity pneumonitisAbnormality of the respi HP:0002883 HyperventilationAbnormality of the respi HP:0012417 HypocapniaAbnormality of the respi HP:0005349 Hypoplasia of the epiglottisAbnormality of the respi HP:0002791 Hypoventilation

Abnormality of the respi HP:0012418 HypoxemiaAbnormality of the respi HP:0012263 Immotile ciliaAbnormality of the respi HP:0005934 Imperfect vocal cord adductionAbnormality of the respi HP:0005348 Inspiratory stridorAbnormality of the respi HP:0004878 Intercostal muscle weaknessAbnormality of the respi HP:0004889 Intermittent episodes of respiratory insufficiency due to muscle weaknessAbnormality of the respi HP:0005941 Intermittent hyperpnea at restAbnormality of the respi HP:0006515 Interstitial pneumonitisAbnormality of the respi HP:0006530 Interstitial pulmonary diseaseAbnormality of the respi HP:0010961 Intralobar sequestrationAbnormality of the respi HP:0011278 Intrapulmonary sequestrationAbnormality of the respi HP:0012195 Irregular respirationAbnormality of the respi HP:0008750 Laryngeal atresiaAbnormality of the respi HP:0012118 Laryngeal carcinomaAbnormality of the respi HP:0008752 Laryngeal cartilage malformationAbnormality of the respi HP:0008751 Laryngeal cleftAbnormality of the respi HP:0100640 Laryngeal cystAbnormality of the respi HP:0012027 Laryngeal edemaAbnormality of the respi HP:0008749 Laryngeal hypoplasiaAbnormality of the respi HP:0005945 Laryngeal obstructionAbnormality of the respi HP:0001602 Laryngeal stenosisAbnormality of the respi HP:0006511 Laryngeal stridorAbnormality of the respi HP:0005950 Laryngeal webAbnormality of the respi HP:0001601 LaryngomalaciaAbnormality of the respi HP:0004894 Laryngotracheal stenosisAbnormality of the respi HP:0008755 LaryngotracheomalaciaAbnormality of the respi HP:0010616 Lung fibromaAbnormality of the respi HP:0006525 Lung segmentation defectsAbnormality of the respi HP:0006527 Lymphoid interstitial pneumoniaAbnormality of the respi HP:0005939 Multiple bilateral pneumothoracesAbnormality of the respi HP:0012768 Neonatal asphyxiaAbnormality of the respi HP:0002790 Neonatal breathing dysregulationAbnormality of the respi HP:0004875 Neonatal inspiratory stridorAbnormality of the respi HP:0002643 Neonatal respiratory distressAbnormality of the respi HP:0100527 Neoplasia of the pleuraAbnormality of the respi HP:0100605 Neoplasm of the larynxAbnormality of the respi HP:0100526 Neoplasm of the lungsAbnormality of the respi HP:0100551 Neoplasm of the tracheaAbnormality of the respi HP:0100552 Neoplasm of the tracheobronchial systemAbnormality of the respi HP:0002877 Nocturnal hypoventilationAbnormality of the respi HP:0006536 Obstructive lung diseaseAbnormality of the respi HP:0012764 OrthopneaAbnormality of the respi HP:0012763 Paroxysmal dyspneaAbnormality of the respi HP:0002202 Pleural effusionAbnormality of the respi HP:0011919 Pleural empyemaAbnormality of the respi HP:0006531 Pleural lymphangiectasiaAbnormality of the respi HP:0100002 Pleural mesotheliomaAbnormality of the respi HP:0002102 PleuritisAbnormality of the respi HP:0100528 Pleuropulmonary blastomaAbnormality of the respi HP:0002090 Pneumonia

Abnormality of the respi HP:0002107 PneumothoraxAbnormality of the respi HP:0005951 Progressive inspiratory stridorAbnormality of the respi HP:0006520 Progressive pulmonary function impairmentAbnormality of the respi HP:0002204 Pulmonary embolismAbnormality of the respi HP:0002206 Pulmonary fibrosisAbnormality of the respi HP:0002089 Pulmonary hypoplasiaAbnormality of the respi HP:0002113 Pulmonary infiltratesAbnormality of the respi HP:0006521 Pulmonary lymphangiectasiaAbnormality of the respi HP:0011953 Pulmonary lymphomaAbnormality of the respi HP:0100632 Pulmonary sequestrationAbnormality of the respi HP:0011617 Pulmonary situs ambiguusAbnormality of the respi HP:0011619 Pulmonary situs ambiguus with bilateral morpholAbnormality of the respi HP:0011618 Pulmonary situs ambiguus with bilateral morphoAbnormality of the respi HP:0011616 Pulmonary situs inversusAbnormality of the respi HP:0006518 Pulmonary venoocclusive diseaseAbnormality of the respi HP:0002100 Recurrent aspiration pneumoniaAbnormality of the respi HP:0006538 Recurrent bronchopulmonary infectionsAbnormality of the respi HP:0004891 Recurrent infections due to aspirationAbnormality of the respi HP:0002783 Recurrent lower respiratory tract infectionsAbnormality of the respi HP:0006532 Recurrent pneumoniaAbnormality of the respi HP:0002205 Recurrent respiratory infectionsAbnormality of the respi HP:0005425 Recurrent sinopulmonary infectionsAbnormality of the respi HP:0005366 Recurrent streptococcus pneumoniae infectionAbnormality of the respi HP:0012497 Reduced maximal expiratory pressureAbnormality of the respi HP:0012496 Reduced maximal inspiratory pressureAbnormality of the respi HP:0002792 Reduced vital capacityAbnormality of the respi HP:0006522 Repeated pneumothoracesAbnormality of the respi HP:0005943 Respiratory arrestAbnormality of the respi HP:0002880 Respiratory difficultiesAbnormality of the respi HP:0002098 Respiratory distressAbnormality of the respi HP:0002878 Respiratory failureAbnormality of the respi HP:0004887 Respiratory failure requiring assisted ventilationAbnormality of the respi HP:0004880 Respiratory infections in early lifeAbnormality of the respi HP:0002093 Respiratory insufficiencyAbnormality of the respi HP:0200073 Respiratory insufficiency due to defective ciliary clearanceAbnormality of the respi HP:0002747 Respiratory insufficiency due to muscle weaknessAbnormality of the respi HP:0002203 Respiratory paralysisAbnormality of the respi HP:0011947 Respiratory tract infectionAbnormality of the respi HP:0002091 Restrictive lung diseaseAbnormality of the respi HP:0002111 Restrictive respiratory insufficiencyAbnormality of the respi HP:0200107 Shortened inner dynein armsAbnormality of the respi HP:0200108 Shortened outer dynein armsAbnormality of the respi HP:0004876 Spontaneous neonatal pneumothoraxAbnormality of the respi HP:0002108 Spontaneous pneumothoraxAbnormality of the respi HP:0012653 Status AsthmaticusAbnormality of the respi HP:0010307 StridorAbnormality of the respi HP:0001607 Subglottic stenosisAbnormality of the respi HP:0002882 Sudden episodic apneaAbnormality of the respi HP:0002789 TachypneaAbnormality of the respi HP:0100682 Tracheal atresia

Abnormality of the respi HP:0002777 Tracheal stenosisAbnormality of the respi HP:0006524 Tracheobronchial leiomyomatosisAbnormality of the respi HP:0010776 TracheobronchmegalyAbnormality of the respi HP:0002786 TracheobronchomalaciaAbnormality of the respi HP:0002779 TracheomalaciaAbnormality of the respi HP:0010778 TracheomegalyAbnormality of the respi HP:0005828 Transient pulmonary infiltratesAbnormality of the respi HP:0011920 Transudative pleural effusionAbnormality of the respi HP:0006549 Unilateral primary pulmonary dysgenesisAbnormality of the respi HP:0008757 Unilateral vocal cord paralysisAbnormality of the respi HP:0012821 Unilateral vocal cord paresisAbnormality of the respi HP:0002781 Upper airway obstructionAbnormality of the respi HP:0005946 Ventilator dependence with inability to weanAbnormality of the respi HP:0001605 Vocal cord paralysisAbnormality of the respi HP:0001606 Vocal cord paralysis (caused by tumor impingement)Abnormality of the respi HP:0001604 Vocal cord paresisAbnormality of the respi HP:0004347 Weakness of muscles of respirationAbnormality of the respi HP:0004879 intermittent hyperventilation

Abnormality of the eyeAbnormality of the eye HP:0008275 Abnormal cone-mediated electroretinogramAbnormality of the eye HP:0000549 Abnormal conjugate eye movementAbnormality of the eye HP:0007815 Abnormal distribution of retinal arterioles and venulesAbnormality of the eye HP:0000512 Abnormal electroretinogramAbnormality of the eye HP:0012372 Abnormal eye morphologyAbnormality of the eye HP:0012373 Abnormal eye physiologyAbnormality of the eye HP:0007928 Abnormal flash visual evoked potentialsAbnormality of the eye HP:0012632 Abnormal intraocular pressureAbnormality of the eye HP:0012547 Abnormal involuntary eye movementsAbnormality of the eye HP:0008034 Abnormal iris pigmentationAbnormality of the eye HP:0007905 Abnormal iris vasculatureAbnormality of the eye HP:0011489 Abnormal migration of corneal endotheliumAbnormality of the eye HP:0007686 Abnormal pupillary functionAbnormality of the eye HP:0007695 Abnormal pupillary light reflexAbnormality of the eye HP:0008052 Abnormal retinal foldsAbnormality of the eye HP:0007703 Abnormal retinal pigmentationAbnormality of the eye HP:0008323 Abnormal rod and cone electroretinogramsAbnormality of the eye HP:0011515 Abnormal stereopsisAbnormality of the eye HP:0011490 Abnormality of Descemet's membraneAbnormality of the eye HP:0011514 Abnormality of binocular visionAbnormality of the eye HP:0000551 Abnormality of color visionAbnormality of the eye HP:0011488 Abnormality of corneal endotheliumAbnormality of the eye HP:0011495 Abnormality of corneal epitheliumAbnormality of the eye HP:0001120 Abnormality of corneal sizeAbnormality of the eye HP:0011492 Abnormality of corneal stromaAbnormality of the eye HP:0011486 Abnormality of corneal thicknessAbnormality of the eye HP:0000496 Abnormality of eye movementAbnormality of the eye HP:0011526 Abnormality of lens shapeAbnormality of the eye HP:0008002 Abnormality of macular pigmentationAbnormality of the eye HP:0011347 Abnormality of ocular abductionAbnormality of the eye HP:0000617 Abnormality of ocular smooth pursuit

Abnormality of the eye HP:0100289 Abnormality of pattern reversal visual evoked potentialsAbnormality of the eye HP:0000539 Abnormality of refractionAbnormality of the eye HP:0000630 Abnormality of retinal arteriesAbnormality of the eye HP:0000570 Abnormality of saccadic eye movementsAbnormality of the eye HP:0000593 Abnormality of the anterior chamberAbnormality of the eye HP:0004328 Abnormality of the anterior segment of the eyeAbnormality of the eye HP:0000610 Abnormality of the choroidAbnormality of the eye HP:0012776 Abnormality of the ciliary bodyAbnormality of the eye HP:0000502 Abnormality of the conjunctivaAbnormality of the eye HP:0000481 Abnormality of the corneaAbnormality of the eye HP:0100691 Abnormality of the curvature of the corneaAbnormality of the eye HP:0008049 Abnormality of the extraocular musclesAbnormality of the eye HP:0000478 Abnormality of the eyeAbnormality of the eye HP:0000493 Abnormality of the foveaAbnormality of the eye HP:0001098 Abnormality of the fundusAbnormality of the eye HP:0012374 Abnormality of the globeAbnormality of the eye HP:0000525 Abnormality of the irisAbnormality of the eye HP:0011481 Abnormality of the lacrimal ductAbnormality of the eye HP:0011482 Abnormality of the lacrimal glandAbnormality of the eye HP:0011479 Abnormality of the lacrimal punctumAbnormality of the eye HP:0000517 Abnormality of the lensAbnormality of the eye HP:0008048 Abnormality of the line of SchwalbeAbnormality of the eye HP:0001103 Abnormality of the maculaAbnormality of the eye HP:0000614 Abnormality of the nasolacrimal systemAbnormality of the eye HP:0012795 Abnormality of the optic discAbnormality of the eye HP:0000587 Abnormality of the optic nerveAbnormality of the eye HP:0004329 Abnormality of the posterior segment of the eyeAbnormality of the eye HP:0000615 Abnormality of the pupilAbnormality of the eye HP:0000479 Abnormality of the retinaAbnormality of the eye HP:0008051 Abnormality of the retinal pigment epitheliumAbnormality of the eye HP:0008046 Abnormality of the retinal vasculatureAbnormality of the eye HP:0000591 Abnormality of the scleraAbnormality of the eye HP:0012628 Abnormality of the suspensory ligament of lensAbnormality of the eye HP:0012630 Abnormality of the trabecular meshworkAbnormality of the eye HP:0000553 Abnormality of the uveaAbnormality of the eye HP:0008054 Abnormality of the vasculature of the conjunctiAbnormality of the eye HP:0008047 Abnormality of the vasculature of the eyeAbnormality of the eye HP:0004327 Abnormality of the vitreous humorAbnormality of the eye HP:0000504 Abnormality of visionAbnormality of the eye HP:0000649 Abnormality of vision evoked potentialsAbnormality of the eye HP:0007873 Abnormally prominent line of SchwalbeAbnormality of the eye HP:0000550 Abolished electroretinogram (ERG)Abnormality of the eye HP:0007965 Absence of visual evoked potentialsAbnormality of the eye HP:0008037 Absent anterior eye chamberAbnormality of the eye HP:0007886 Absent extraocular musclesAbnormality of the eye HP:0001092 Absent lacrimal punctumAbnormality of the eye HP:0007980 Absent retinal pigment epitheliumAbnormality of the eye HP:0007688 Absent rod-and cone-mediated responses on Abnormality of the eye HP:0007179 Absent smooth pursuitAbnormality of the eye HP:0009727 Achromatic retinal patches

Abnormality of the eye HP:0010926 Aculeiform cataractAbnormality of the eye HP:0007830 Adult-onset night blindnessAbnormality of the eye HP:0011141 Age-related cataractAbnormality of the eye HP:0011143 Age-related cortical cataractAbnormality of the eye HP:0007868 Age-related macular degenerationAbnormality of the eye HP:0011142 Age-related nuclear cataractAbnormality of the eye HP:0011144 Age-related posterior subcapsular cataractAbnormality of the eye HP:0000522 AlacrimaAbnormality of the eye HP:0007879 Allergic conjunctivitisAbnormality of the eye HP:0001137 Alternating esotropiaAbnormality of the eye HP:0100576 Amaurosis fugaxAbnormality of the eye HP:0000646 AmblyopiaAbnormality of the eye HP:0007841 Amyloid deposition in the vitreous humorAbnormality of the eye HP:0001102 Angioid streaks of the retinaAbnormality of the eye HP:0000526 AniridiaAbnormality of the eye HP:0009916 AnisocoriaAbnormality of the eye HP:0012803 AnisometropiaAbnormality of the eye HP:0011519 Anomalous trichromacyAbnormality of the eye HP:0007833 Anterior chamber synechiaeAbnormality of the eye HP:0007795 Anterior cortical cataractAbnormality of the eye HP:0011501 Anterior lenticonusAbnormality of the eye HP:0001134 Anterior polar cataractAbnormality of the eye HP:0010697 Anterior pyramidal cataractAbnormality of the eye HP:0007700 Anterior segment dysgenesisAbnormality of the eye HP:0007779 Anterior segment of eye aplasiaAbnormality of the eye HP:0010923 Anterior subcapsular cataractAbnormality of the eye HP:0011483 Anterior synechiae of the anterior chamberAbnormality of the eye HP:0012122 Anterior uveitisAbnormality of the eye HP:0011503 Aplasia of the foveaAbnormality of the eye HP:0010728 Aplasia of the retinaAbnormality of the eye HP:0008062 Aplasia/Hypoplasia affecting the anterior segmeAbnormality of the eye HP:0008056 Aplasia/Hypoplasia affecting the eyeAbnormality of the eye HP:0008057 Aplasia/Hypoplasia affecting the fundusAbnormality of the eye HP:0008061 Aplasia/Hypoplasia affecting the retinaAbnormality of the eye HP:0008055 Aplasia/Hypoplasia affecting the uveaAbnormality of the eye HP:0001122 Aplasia/Hypoplasia of the choroidAbnormality of the eye HP:0008060 Aplasia/Hypoplasia of the foveaAbnormality of the eye HP:0008053 Aplasia/Hypoplasia of the irisAbnormality of the eye HP:0008063 Aplasia/Hypoplasia of the lensAbnormality of the eye HP:0008059 Aplasia/Hypoplasia of the maculaAbnormality of the eye HP:0008058 Aplasia/Hypoplasia of the optic nerveAbnormality of the eye HP:0008038 Aplastic/hypoplastic lacrimal glandsAbnormality of the eye HP:0000483 AstigmatismAbnormality of the eye HP:0012633 Asymmetry of intraocular pressureAbnormality of the eye HP:0200064 Asymmetry of iris pigmentationAbnormality of the eye HP:0007820 Atretic lacrimal punctumAbnormality of the eye HP:0007843 Attenuation of retinal blood vesselsAbnormality of the eye HP:0001492 Axenfeld anomalyAbnormality of the eye HP:0000585 Band keratopathyAbnormality of the eye HP:0007709 Band-shaped corneal dystrophy

Abnormality of the eye HP:0007956 Bilateral choroid colobomaAbnormality of the eye HP:0007932 Bilateral congenital mydriasisAbnormality of the eye HP:0001488 Bilateral ptosisAbnormality of the eye HP:0007808 Bilateral retinal colobomaAbnormality of the eye HP:0007462 Bitot spots of the conjunctivaAbnormality of the eye HP:0000618 BlindnessAbnormality of the eye HP:0007939 Blue cone monochromacyAbnormality of the eye HP:0000635 Blue iridesAbnormality of the eye HP:0000592 Blue scleraeAbnormality of the eye HP:0000622 Blurred visionAbnormality of the eye HP:0007737 Bony spicule pigmentary retinopathyAbnormality of the eye HP:0001088 Brushfield spotsAbnormality of the eye HP:0011504 Bull's eye maculopathyAbnormality of the eye HP:0000557 BuphthalmosAbnormality of the eye HP:0007783 Butterfly retinal pigment epithelial dystrophyAbnormality of the eye HP:0100017 Capsular cataractAbnormality of the eye HP:0000518 CataractAbnormality of the eye HP:0007881 Central corneal dystrophyAbnormality of the eye HP:0008014 Central fundal arteriolar microaneurysmsAbnormality of the eye HP:0007818 Central heterochromiaAbnormality of the eye HP:0011493 Central opacification of the corneaAbnormality of the eye HP:0008511 Central posterior corneal opacityAbnormality of the eye HP:0007822 Central retinal exudateAbnormality of the eye HP:0007768 Central retinal vessel vascular tortuosityAbnormality of the eye HP:0000603 Central scotomaAbnormality of the eye HP:0007982 Central tapetoretinal dystrophyAbnormality of the eye HP:0000576 Centrocecal scotomaAbnormality of the eye HP:0007976 Cerulean cataractAbnormality of the eye HP:0007295 Chaotic rapid conjugate ocular movementsAbnormality of the eye HP:0012375 ChemosisAbnormality of the eye HP:0010729 Cherry red spot of the maculaAbnormality of the eye HP:0000532 Chorioretinal abnormalityAbnormality of the eye HP:0000533 Chorioretinal atrophyAbnormality of the eye HP:0000567 Chorioretinal colobomaAbnormality of the eye HP:0007731 Chorioretinal dysplasiaAbnormality of the eye HP:0001135 Chorioretinal dystrophyAbnormality of the eye HP:0007661 Chorioretinal hypopigmentation and hyperpigmentationAbnormality of the eye HP:0007858 Chorioretinal lacunaeAbnormality of the eye HP:0007777 Chorioretinal scarsAbnormality of the eye HP:0012424 ChorioretinitisAbnormality of the eye HP:0001145 ChorioretinopathyAbnormality of the eye HP:0000611 Choroid colobomaAbnormality of the eye HP:0011887 Choroid hemorrhageAbnormality of the eye HP:0007945 Choroidal degenerationAbnormality of the eye HP:0007712 Choroidal dystrophyAbnormality of the eye HP:0007872 Choroidal hemangiomataAbnormality of the eye HP:0012054 Choroidal melanomaAbnormality of the eye HP:0011506 Choroidal neovascularization of the maculaAbnormality of the eye HP:0001150 Choroidal sclerosisAbnormality of the eye HP:0001139 Choroideremia

Abnormality of the eye HP:0200065 Choroidoretinal degenerationAbnormality of the eye HP:0007717 Chronic irritative conjunctivitisAbnormality of the eye HP:0012055 Ciliary body melanomaAbnormality of the eye HP:0000589 ColobomaAbnormality of the eye HP:0001477 Compensatory chin elevationAbnormality of the eye HP:0007981 Concentric narrowing of visual fieldsAbnormality of the eye HP:0011517 Cone monochromacyAbnormality of the eye HP:0000548 Cone-rod dystrophyAbnormality of the eye HP:0006837 Congenital Horner syndromeAbnormality of the eye HP:0007911 Congenital bilateral ptosisAbnormality of the eye HP:0007875 Congenital blindnessAbnormality of the eye HP:0000519 Congenital cataractAbnormality of the eye HP:0007920 Congenital chorioretinal dystrophyAbnormality of the eye HP:0008005 Congenital corneal dystrophyAbnormality of the eye HP:0008033 Congenital exotropiaAbnormality of the eye HP:0007647 Congenital extraocular muscle anomalyAbnormality of the eye HP:0001491 Congenital fibrosis of extraocular musclesAbnormality of the eye HP:0001087 Congenital glaucomaAbnormality of the eye HP:0007859 Congenital horizontal nystagmusAbnormality of the eye HP:0007649 Congenital hypertrophy of retinal pigment epithAbnormality of the eye HP:0007728 Congenital miosisAbnormality of the eye HP:0008012 Congenital myopiaAbnormality of the eye HP:0008024 Congenital nuclear cataractAbnormality of the eye HP:0006934 Congenital nystagmusAbnormality of the eye HP:0007707 Congenital primary aphakiaAbnormality of the eye HP:0007970 Congenital ptosisAbnormality of the eye HP:0007642 Congenital stationary night blindnessAbnormality of the eye HP:0000487 Congenital strabismusAbnormality of the eye HP:0007758 Congenital visual impairmentAbnormality of the eye HP:0010637 Conjunctival amyloidosisAbnormality of the eye HP:0100780 Conjunctival hamartomaAbnormality of the eye HP:0012549 Conjunctival lipomaAbnormality of the eye HP:0009903 Conjunctival noduleAbnormality of the eye HP:0000524 Conjunctival telangiectasiaAbnormality of the eye HP:0007799 Conjunctival whitish salt-like depositsAbnormality of the eye HP:0000509 ConjunctivitisAbnormality of the eye HP:0001133 Constricted visual fieldsAbnormality of the eye HP:0010921 Coralliform cataractAbnormality of the eye HP:0001084 Corneal arcusAbnormality of the eye HP:0009915 Corneal asymmetryAbnormality of the eye HP:0000531 Corneal crystalsAbnormality of the eye HP:0007705 Corneal degenerationAbnormality of the eye HP:0001131 Corneal dystrophyAbnormality of the eye HP:0200020 Corneal erosionAbnormality of the eye HP:0012038 Corneal guttataAbnormality of the eye HP:0011496 Corneal neovascularizationAbnormality of the eye HP:0007957 Corneal opacityAbnormality of the eye HP:0100583 Corneal perforationAbnormality of the eye HP:0000559 Corneal scarringAbnormality of the eye HP:0012040 Corneal stromal edema

Abnormality of the eye HP:0012804 Corneal ulcerationAbnormality of the eye HP:0011485 Corneolenticular adhesionAbnormality of the eye HP:0100019 Cortical cataractAbnormality of the eye HP:0007780 Cortical pulverulent cataractAbnormality of the eye HP:0100704 Cortical visual impairmentAbnormality of the eye HP:0007760 Crystalline corneal dystrophyAbnormality of the eye HP:0007667 Cystic retinal degenerationAbnormality of the eye HP:0008028 Cystoid macular degenerationAbnormality of the eye HP:0011505 Cystoid macular edemaAbnormality of the eye HP:0000620 DacrocystitisAbnormality of the eye HP:0007663 Decreased central visionAbnormality of the eye HP:0008000 Decreased corneal reflexAbnormality of the eye HP:0012155 Decreased corneal sensationAbnormality of the eye HP:0100689 Decreased corneal thicknessAbnormality of the eye HP:0008179 Decreased electrooculogram (EOG)Abnormality of the eye HP:0000654 Decreased electroretinogram (ERG) amplitudeAbnormality of the eye HP:0000633 Decreased lacrimationAbnormality of the eye HP:0007659 Decreased retinal pigmentation with dispersionAbnormality of the eye HP:0007765 Deep anterior chamberAbnormality of the eye HP:0007964 Degenerative vitreoretinopathyAbnormality of the eye HP:0007948 Dense posterior cortical cataractAbnormality of the eye HP:0007680 Depigmented fundusAbnormality of the eye HP:0008017 Depigmented lesions of the retinal pigment epitheliumAbnormality of the eye HP:0012039 Descemet Membrane FoldsAbnormality of the eye HP:0011520 DeuteranomolyAbnormality of the eye HP:0011521 DeuteranopiaAbnormality of the eye HP:0011518 DichromacyAbnormality of the eye HP:0007657 Diffuse nuclear cataractAbnormality of the eye HP:0012512 Diffuse optic disc pallorAbnormality of the eye HP:0007829 Diffuse retinal cone degenerationAbnormality of the eye HP:0000651 DiplopiaAbnormality of the eye HP:0010545 Downbeat nystagmusAbnormality of the eye HP:0011510 DrusenAbnormality of the eye HP:0009921 Duane anomalyAbnormality of the eye HP:0007641 DyschromatopsiaAbnormality of the eye HP:0000641 Dysmetric saccadesAbnormality of the eye HP:0001083 Ectopia lentisAbnormality of the eye HP:0009918 Ectopia pupillaeAbnormality of the eye HP:0010748 Ectopic lacrimal punctumAbnormality of the eye HP:0008045 Enlarged flash visual evoked potentialsAbnormality of the eye HP:0007734 Enlarged lacrimal glandsAbnormality of the eye HP:0001140 Epibulbar dermoidAbnormality of the eye HP:0100014 Epiretinal membraneAbnormality of the eye HP:0100534 EpiscleritisAbnormality of the eye HP:0000565 EsotropiaAbnormality of the eye HP:0000577 ExotropiaAbnormality of the eye HP:0000544 External ophthalmoplegiaAbnormality of the eye HP:0012231 Exudative retinal detachmentAbnormality of the eye HP:0007898 Exudative retinopathyAbnormality of the eye HP:0001493 Falciform retinal fold

Abnormality of the eye HP:0007801 Fishnet retinal pigmentationAbnormality of the eye HP:0007720 Flat corneaAbnormality of the eye HP:0007866 Focal retinal infarctionAbnormality of the eye HP:0007798 Foveal dystrophyAbnormality of the eye HP:0008001 Foveal hyperpigmentationAbnormality of the eye HP:0007923 Foveal hyperplasiaAbnormality of the eye HP:0012643 Foveal hypopigmentationAbnormality of the eye HP:0012152 FoveoschisisAbnormality of the eye HP:0001099 Fundus atrophyAbnormality of the eye HP:0007979 Gaze-evoked horizontal nystagmusAbnormality of the eye HP:0000640 Gaze-evoked nystagmusAbnormality of the eye HP:0011494 Generalized opacification of the corneaAbnormality of the eye HP:0000501 GlaucomaAbnormality of the eye HP:0007854 Glaucomatous visual field defectAbnormality of the eye HP:0000497 Globe retraction and deviation on abductionAbnormality of the eye HP:0007802 Granular corneal dystrophyAbnormality of the eye HP:0100274 Gustatory lacrimationAbnormality of the eye HP:0010568 Hamartoma of the eyeAbnormality of the eye HP:0012047 HemeralopiaAbnormality of the eye HP:0001125 Hemianopic blurring of visionAbnormality of the eye HP:0012377 HemianopsiaAbnormality of the eye HP:0011885 Hemorrhage of the eyeAbnormality of the eye HP:0007812 Herpetiform corneal ulcerationAbnormality of the eye HP:0001100 Heterochromia iridisAbnormality of the eye HP:0008499 High-grade hypermetropiaAbnormality of the eye HP:0007937 Honeycomb retinal degenerationAbnormality of the eye HP:0007286 Horizontal jerk nystagmusAbnormality of the eye HP:0000666 Horizontal nystagmusAbnormality of the eye HP:0008026 Horizontal opticokinetic nystagmusAbnormality of the eye HP:0007811 Horizontal pendular nystagmusAbnormality of the eye HP:0007817 Horizontal supranuclear gaze palsyAbnormality of the eye HP:0002277 Horner syndromeAbnormality of the eye HP:0007338 Hypermetric saccadesAbnormality of the eye HP:0000540 HypermetropiaAbnormality of the eye HP:0007922 Hypermyelinated retinal fibersAbnormality of the eye HP:0000484 Hyperopic astigmatismAbnormality of the eye HP:0011512 Hyperpigmentation of the fundusAbnormality of the eye HP:0001095 Hypertensive retinopathyAbnormality of the eye HP:0011886 HyphemaAbnormality of the eye HP:0007975 Hypometric horizontal saccadesAbnormality of the eye HP:0000571 Hypometric saccadesAbnormality of the eye HP:0007894 Hypopigmentation of the fundusAbnormality of the eye HP:0001487 Hypopigmented fundiAbnormality of the eye HP:0007757 Hypoplasia of choroidAbnormality of the eye HP:0007774 Hypoplasia of the ciliary bodyAbnormality of the eye HP:0007750 Hypoplasia of the foveaAbnormality of the eye HP:0007676 Hypoplasia of the irisAbnormality of the eye HP:0008345 Hypoplasia of the iris dilator muscleAbnormality of the eye HP:0007892 Hypoplasia of the lacrimal punctaAbnormality of the eye HP:0007990 Hypoplastic iris stroma

Abnormality of the eye HP:0007900 Hypoplastic lacrimal ductAbnormality of the eye HP:0000619 Impaired convergenceAbnormality of the eye HP:0001151 Impaired horizontal smooth pursuitAbnormality of the eye HP:0000634 Impaired ocular abductionAbnormality of the eye HP:0000542 Impaired ocular adductionAbnormality of the eye HP:0007668 Impaired pursuit initiation and maintenanceAbnormality of the eye HP:0007772 Impaired smooth pursuitAbnormality of the eye HP:0100692 Increased corneal curvatureAbnormality of the eye HP:0011487 Increased corneal thicknessAbnormality of the eye HP:0012796 Increased cup-to-disc ratioAbnormality of the eye HP:0007906 Increased intraocular pressureAbnormality of the eye HP:0009926 Increased lacrimationAbnormality of the eye HP:0007986 Increased retinal vascularityAbnormality of the eye HP:0008494 Inferior lens subluxationAbnormality of the eye HP:0100533 Inflammatory abnormality of the eyeAbnormality of the eye HP:0012124 Intermediate uveitisAbnormality of the eye HP:0007944 Intermittent microsaccadic pursuitsAbnormality of the eye HP:0007942 Internal ophthalmoplegiaAbnormality of the eye HP:0007716 Intraocular melanomaAbnormality of the eye HP:0007989 Intraretinal exudateAbnormality of the eye HP:0007889 Iridescent posterior subcapsular cataractAbnormality of the eye HP:0007748 Irido-fundal colobomaAbnormality of the eye HP:0001094 IridocyclitisAbnormality of the eye HP:0100693 IridodonesisAbnormality of the eye HP:0007744 Iridoretinal colobomaAbnormality of the eye HP:0001089 Iris atrophyAbnormality of the eye HP:0000612 Iris colobomaAbnormality of the eye HP:0011523 Iris cystAbnormality of the eye HP:0012635 Iris hypoperfusionAbnormality of the eye HP:0007730 Iris hypopigmentationAbnormality of the eye HP:0011524 Iris melanomaAbnormality of the eye HP:0011497 Iris neovascularizationAbnormality of the eye HP:0011525 Iris nevusAbnormality of the eye HP:0012634 Iris pigment dispersionAbnormality of the eye HP:0012805 Iris transillumination defectAbnormality of the eye HP:0001101 IritisAbnormality of the eye HP:0008003 Jerky ocular pursuit movementsAbnormality of the eye HP:0001118 Juvenile cataractAbnormality of the eye HP:0007876 Juvenile cortical cataractAbnormality of the eye HP:0007755 Juvenile epithelial corneal dystrophyAbnormality of the eye HP:0007935 Juvenile posterior subcapsular lenticular opacitiesAbnormality of the eye HP:0007713 Juvenile zonular cataractsAbnormality of the eye HP:0200032 Kayser-Fleischer ringAbnormality of the eye HP:0000491 KeratitisAbnormality of the eye HP:0001096 KeratoconjunctivitisAbnormality of the eye HP:0001097 Keratoconjunctivitis siccaAbnormality of the eye HP:0000563 KeratoconusAbnormality of the eye HP:0001119 KeratoglobusAbnormality of the eye HP:0007925 Lacrimal duct aplasiaAbnormality of the eye HP:0000564 Lacrimal duct atresia

Abnormality of the eye HP:0007678 Lacrimal duct stenosisAbnormality of the eye HP:0007656 Lacrimal gland aplasiaAbnormality of the eye HP:0007732 Lacrimal gland hypoplasiaAbnormality of the eye HP:0000632 Lacrimation abnormalityAbnormality of the eye HP:0007786 Lacunar retinal depigmentationAbnormality of the eye HP:0007971 Lamellar cataractAbnormality of the eye HP:0010694 Lamellar pulverulent cataractAbnormality of the eye HP:0001129 Large central visual field defectAbnormality of the eye HP:0007658 Large hyperpigmented retinal spotsAbnormality of the eye HP:0008041 Late onset congenital glaucomaAbnormality of the eye HP:0001149 Lattice corneal dystrophyAbnormality of the eye HP:0007992 Lattice retinal degenerationAbnormality of the eye HP:0001112 Leber optic atrophyAbnormality of the eye HP:0100719 Lens colobomaAbnormality of the eye HP:0012019 Lens luxationAbnormality of the eye HP:0001132 Lens subluxationAbnormality of the eye HP:0001142 LenticonusAbnormality of the eye HP:0011527 LentiglobusAbnormality of the eye HP:0009781 Lester's signAbnormality of the eye HP:0000555 LeukocoriaAbnormality of the eye HP:0012241 Levator palpebrae superioris atrophyAbnormality of the eye HP:0007941 Limited extraocular movementsAbnormality of the eye HP:0000660 Lipemia retinalisAbnormality of the eye HP:0009737 Lisch nodulesAbnormality of the eye HP:0007722 Loss of retinal pigment epitheliumAbnormality of the eye HP:0007963 Macroreticular retinal dystrophyAbnormality of the eye HP:0001116 Macular colobomaAbnormality of the eye HP:0000608 Macular degenerationAbnormality of the eye HP:0007754 Macular dystrophyAbnormality of the eye HP:0011507 Macular flecksAbnormality of the eye HP:0011508 Macular holeAbnormality of the eye HP:0011509 Macular hyperpigmentationAbnormality of the eye HP:0007988 Macular hypopigmentationAbnormality of the eye HP:0001104 Macular hypoplasiaAbnormality of the eye HP:0007793 Macular retinal pigment epithelial mottlingAbnormality of the eye HP:0200056 Macular scarringAbnormality of the eye HP:0011511 Macular schisisAbnormality of the eye HP:0007993 Malformed lacrimal ductsAbnormality of the eye HP:0007690 Map-dot-fingerprint corneal dystrophyAbnormality of the eye HP:0200057 Marcus Gunn pupilAbnormality of the eye HP:0007880 Marginal corneal dystrophyAbnormality of the eye HP:0000485 MegalocorneaAbnormality of the eye HP:0010922 Membranous cataractAbnormality of the eye HP:0012508 MetamorphopsiaAbnormality of the eye HP:0000482 MicrocorneaAbnormality of the eye HP:0012376 MicrophakiaAbnormality of the eye HP:0007792 Microsaccadic pursuitAbnormality of the eye HP:0007739 Mildly reduced visual acuityAbnormality of the eye HP:0000616 MiosisAbnormality of the eye HP:0007803 Monochromacy

Abnormality of the eye HP:0007747 Monocular horizontal nystagmusAbnormality of the eye HP:0100690 Mosaic central corneal dystrophyAbnormality of the eye HP:0007836 Mosaic corneal dystrophyAbnormality of the eye HP:0100832 Mouches volantesAbnormality of the eye HP:0011529 Multiple bilateral congenital hypertrophy of retiAbnormality of the eye HP:0011499 MydriasisAbnormality of the eye HP:0000545 MyopiaAbnormality of the eye HP:0000579 Nasolacrimal duct obstructionAbnormality of the eye HP:0100012 Neoplasm of the eyeAbnormality of the eye HP:0007778 Neovascularization of peripheral and posterior retinaAbnormality of the eye HP:0000662 Night blindnessAbnormality of the eye HP:0007827 Nodular corneal dystrophyAbnormality of the eye HP:0007634 Nonarteritic anterior ischemic optic neuropathyAbnormality of the eye HP:0007813 Nongranulomatous uveitisAbnormality of the eye HP:0007401 Noninflammatory macular atrophyAbnormality of the eye HP:0007692 Nonnuclear polymorphic congenital cataractAbnormality of the eye HP:0007910 Nonprogressive congenital retinal dystrophyAbnormality of the eye HP:0007831 Nonprogressive restrictive external ophthalmopAbnormality of the eye HP:0200068 Nonprogressive visual lossAbnormality of the eye HP:0100018 Nuclear cataractAbnormality of the eye HP:0010698 Nuclear pulverulent cataractAbnormality of the eye HP:0010925 Nuclear punctate cataractAbnormality of the eye HP:0000639 NystagmusAbnormality of the eye HP:0001361 Nystagmus-induced head noddingAbnormality of the eye HP:0001107 Ocular albinismAbnormality of the eye HP:0000657 Oculomotor apraxiaAbnormality of the eye HP:0012246 Oculomotor nerve palsyAbnormality of the eye HP:0007727 Opacification of the corneal epitheliumAbnormality of the eye HP:0007759 Opacification of the corneal stromaAbnormality of the eye HP:0000597 OphthalmoparesisAbnormality of the eye HP:0000602 OphthalmoplegiaAbnormality of the eye HP:0010543 OpsoclonusAbnormality of the eye HP:0000648 Optic atrophyAbnormality of the eye HP:0007958 Optic atrophy from cranial nerve compressionAbnormality of the eye HP:0012426 Optic disc drusenAbnormality of the eye HP:0007766 Optic disc hypoplasiaAbnormality of the eye HP:0000543 Optic disc pallorAbnormality of the eye HP:0012521 Optic nerve aplasiaAbnormality of the eye HP:0000588 Optic nerve colobomaAbnormality of the eye HP:0007807 Optic nerve compressionAbnormality of the eye HP:0001093 Optic nerve dysplasiaAbnormality of the eye HP:0000609 Optic nerve hypoplasiaAbnormality of the eye HP:0100653 Optic neuritisAbnormality of the eye HP:0001138 Optic neuropathyAbnormality of the eye HP:0012121 PanuveitisAbnormality of the eye HP:0001085 PapilledemaAbnormality of the eye HP:0007704 Paroxysmal involuntary eye movementsAbnormality of the eye HP:0011498 Partial aniridiaAbnormality of the eye HP:0007791 Patchy atrophy of the retinal pigment epitheliumAbnormality of the eye HP:0012043 Pendular nystagmus

Abnormality of the eye HP:0007852 Pericentral pigmentary retinopathyAbnormality of the eye HP:0007736 Pericentral retinal dystrophyAbnormality of the eye HP:0007947 Pericentral retinitis pigmentosaAbnormality of the eye HP:0007761 Pericentral scotomaAbnormality of the eye HP:0007950 Peripapillary chorioretinal atrophyAbnormality of the eye HP:0008011 Peripheral opacification of the corneaAbnormality of the eye HP:0200070 Peripheral retinal atrophyAbnormality of the eye HP:0007685 Peripheral retinal avascularizationAbnormality of the eye HP:0007782 Peripheral retinal cone degenerationAbnormality of the eye HP:0007769 Peripheral retinal degenerationAbnormality of the eye HP:0007929 Peripheral retinal detachmentAbnormality of the eye HP:0200099 Peripheral retinal pigmentation abnormalitiesAbnormality of the eye HP:0007869 Peripheral retinopathyAbnormality of the eye HP:0007643 Peripheral traction retinal detachmentAbnormality of the eye HP:0007994 Peripheral visual field lossAbnormality of the eye HP:0200071 Peripheral vitreoretinal degenerationAbnormality of the eye HP:0007710 Peripheral vitreous opacitiesAbnormality of the eye HP:0009922 Persistence of the hyaloid arteryAbnormality of the eye HP:0007968 Persistent hyperplastic primary vitreousAbnormality of the eye HP:0009917 Persistent pupillary membraneAbnormality of the eye HP:0000659 Peters anomalyAbnormality of the eye HP:0012629 PhacodonesisAbnormality of the eye HP:0000613 PhotophobiaAbnormality of the eye HP:0000667 Phthisis bulbiAbnormality of the eye HP:0012631 Pigment deposition in the trabecular meshworkAbnormality of the eye HP:0001146 Pigmentary retinal degenerationAbnormality of the eye HP:0007702 Pigmentary retinal depositsAbnormality of the eye HP:0000580 Pigmentary retinopathyAbnormality of the eye HP:0007832 Pigmentation of the scleraAbnormality of the eye HP:0007903 Pigmented paravenous chorioretinal atrophyAbnormality of the eye HP:0010696 Polar cataractAbnormality of the eye HP:0011500 PolycoriaAbnormality of the eye HP:0007915 Polymorphous posterior corneal dystrophyAbnormality of the eye HP:0008031 Posterior Y-sutural cataractAbnormality of the eye HP:0100020 Posterior capsular cataractAbnormality of the eye HP:0010924 Posterior cortical cataractAbnormality of the eye HP:0000627 Posterior embryotoxonAbnormality of the eye HP:0011502 Posterior lenticonusAbnormality of the eye HP:0001115 Posterior polar cataractAbnormality of the eye HP:0007787 Posterior subcapsular cataractAbnormality of the eye HP:0011484 Posterior synechiae of the anterior chamberAbnormality of the eye HP:0012123 Posterior uveitisAbnormality of the eye HP:0007819 Presenile cataractsAbnormality of the eye HP:0012109 Primary angle closure glaucomaAbnormality of the eye HP:0008007 Primary congenital glaucomaAbnormality of the eye HP:0012108 Primary open angle glaucomaAbnormality of the eye HP:0007810 Progressive bifocal chorioretinal atrophyAbnormality of the eye HP:0007834 Progressive cataractAbnormality of the eye HP:0008008 Progressive central visual lossAbnormality of the eye HP:0008020 Progressive cone degeneration

Abnormality of the eye HP:0000590 Progressive external ophthalmoplegiaAbnormality of the eye HP:0007949 Progressive macular scarringAbnormality of the eye HP:0007675 Progressive night blindnessAbnormality of the eye HP:0007650 Progressive ophthalmoplegiaAbnormality of the eye HP:0007838 Progressive ptosisAbnormality of the eye HP:0007893 Progressive retinal degenerationAbnormality of the eye HP:0007987 Progressive visual field defectsAbnormality of the eye HP:0000529 Progressive visual lossAbnormality of the eye HP:0010726 Prominent corneal nerve fibersAbnormality of the eye HP:0200018 ProtanomalyAbnormality of the eye HP:0011522 ProtanopiaAbnormality of the eye HP:0012627 PseudoexfoliationAbnormality of the eye HP:0000538 PseudopapilledemaAbnormality of the eye HP:0000508 PtosisAbnormality of the eye HP:0010693 Pulverulent CataractAbnormality of the eye HP:0007648 Punctate cataractAbnormality of the eye HP:0007809 Punctate corneal dystrophyAbnormality of the eye HP:0000584 Punctate corneal epithelial erosionsAbnormality of the eye HP:0011859 Punctate keratitisAbnormality of the eye HP:0007856 Punctate opacification of the corneaAbnormality of the eye HP:0007961 Rarefaction of retinal pigmentationAbnormality of the eye HP:0000495 Recurrent corneal erosionsAbnormality of the eye HP:0007250 Recurrent external ophthalmoplegiaAbnormality of the eye HP:0000642 Red-green dyschromatopsiaAbnormality of the eye HP:0007984 Reduced amplitude of b-wave (ERG)Abnormality of the eye HP:0000650 Reduced amplitude of pattern visual evoked potentialsAbnormality of the eye HP:0011491 Reduced number of corneal endothelial cellsAbnormality of the eye HP:0007936 Restrictive external ophthalmoplegiaAbnormality of the eye HP:0007867 Restrictive partial external ophthalmoplegiaAbnormality of the eye HP:0007913 Reticular retinal dystrophyAbnormality of the eye HP:0000631 Retinal arterial tortuosityAbnormality of the eye HP:0008043 Retinal arteriolar constrictionAbnormality of the eye HP:0007985 Retinal arteriolar occlusionAbnormality of the eye HP:0001136 Retinal arteriolar tortuosityAbnormality of the eye HP:0008030 Retinal arteritisAbnormality of the eye HP:0012778 Retinal astrocytic hamartomaAbnormality of the eye HP:0001105 Retinal atrophyAbnormality of the eye HP:0007862 Retinal calcificationAbnormality of the eye HP:0011513 Retinal cavernous angiomaAbnormality of the eye HP:0000480 Retinal colobomaAbnormality of the eye HP:0000546 Retinal degenerationAbnormality of the eye HP:0000541 Retinal detachmentAbnormality of the eye HP:0007973 Retinal dysplasiaAbnormality of the eye HP:0000556 Retinal dystrophyAbnormality of the eye HP:0001147 Retinal exudateAbnormality of the eye HP:0012045 Retinal flecksAbnormality of the eye HP:0009594 Retinal hamartomaAbnormality of the eye HP:0009711 Retinal hemangioblastomaAbnormality of the eye HP:0000573 Retinal hemorrhageAbnormality of the eye HP:0011530 Retinal hole

Abnormality of the eye HP:0007770 Retinal hypoplasiaAbnormality of the eye HP:0007863 Retinal lesionsAbnormality of the eye HP:0007901 Retinal malformationAbnormality of the eye HP:0012777 Retinal neoplasmAbnormality of the eye HP:0007899 Retinal nonattachmentAbnormality of the eye HP:0011958 Retinal perforationAbnormality of the eye HP:0007698 Retinal pigment epithelial atrophyAbnormality of the eye HP:0008036 Retinal pigmentary dystrophyAbnormality of the eye HP:0007654 Retinal striationAbnormality of the eye HP:0007763 Retinal telangiectasiaAbnormality of the eye HP:0007797 Retinal vascular malformationAbnormality of the eye HP:0007850 Retinal vascular proliferationAbnormality of the eye HP:0012841 Retinal vascular tortuosityAbnormality of the eye HP:0012636 Retinal vein occlusionAbnormality of the eye HP:0000510 Retinitis pigmentosaAbnormality of the eye HP:0008035 Retinitis pigmentosa inversaAbnormality of the eye HP:0009919 RetinoblastomaAbnormality of the eye HP:0000488 RetinopathyAbnormality of the eye HP:0100654 Retrobulbar optic neuritisAbnormality of the eye HP:0012230 Rhegmatogenous retinal detachmentAbnormality of the eye HP:0200066 Ribbonlike corneal degenerationAbnormality of the eye HP:0000558 Rieger anomalyAbnormality of the eye HP:0011516 Rod monochromacyAbnormality of the eye HP:0001583 Rotary nystagmusAbnormality of the eye HP:0001152 Saccadic smooth pursuitAbnormality of the eye HP:0007721 Saccular conjunctival aneurysmsAbnormality of the eye HP:0007814 Salt and pepper retinopathyAbnormality of the eye HP:0010822 Scintillating scotomaAbnormality of the eye HP:0100011 Scleral schwannomaAbnormality of the eye HP:0100532 ScleritisAbnormality of the eye HP:0000647 SclerocorneaAbnormality of the eye HP:0000575 ScotomaAbnormality of the eye HP:0012044 Seesaw nystagmusAbnormality of the eye HP:0100842 Septo-optic dysplasiaAbnormality of the eye HP:0012470 Setting-sun eye phenomenonAbnormality of the eye HP:0011003 Severe MyopiaAbnormality of the eye HP:0001141 Severe visual impairmentAbnormality of the eye HP:0000594 Shallow anterior chamberAbnormality of the eye HP:0011528 Single isolated congenital hypertrophy of retinaAbnormality of the eye HP:0007756 Slitlike anterior chamber angles in childrenAbnormality of the eye HP:0007924 Slow decrease in visual acuityAbnormality of the eye HP:0000514 Slow saccadic eye movementsAbnormality of the eye HP:0007885 Slowed horizontal saccadesAbnormality of the eye HP:0011533 Snowflake retinal degenerationAbnormality of the eye HP:0010533 Spasmus nutansAbnormality of the eye HP:0007962 Speckled corneal dystrophyAbnormality of the eye HP:0010727 Spontaneous rupture of the globeAbnormality of the eye HP:0008507 Static ophthalmoparesisAbnormality of the eye HP:0012775 Stellate irisAbnormality of the eye HP:0000486 Strabismus

Abnormality of the eye HP:0000523 Subcapsular cataractAbnormality of the eye HP:0011896 Subconjunctival hemorrhageAbnormality of the eye HP:0008039 Subepithelial corneal opacitiesAbnormality of the eye HP:0011532 Subretinal exudateAbnormality of the eye HP:0001117 Sudden central visual lossAbnormality of the eye HP:0008019 Superior lens subluxationAbnormality of the eye HP:0012242 Superior rectus atrophyAbnormality of the eye HP:0000605 Supranuclear gaze palsyAbnormality of the eye HP:0000623 Supranuclear ophthalmoplegiaAbnormality of the eye HP:0010695 Sutural cataractAbnormality of the eye HP:0000547 Tapetoretinal degenerationAbnormality of the eye HP:0007851 Temporal displacement of maculaeAbnormality of the eye HP:0012511 Temporal optic disc pallorAbnormality of the eye HP:0012074 Tonic pupilAbnormality of the eye HP:0000503 Tortuosity of conjunctival vesselsAbnormality of the eye HP:0010700 Total cataractAbnormality of the eye HP:0007824 Total ophthalmoplegiaAbnormality of the eye HP:0007917 Tractional retinal detachmentAbnormality of the eye HP:0010699 Triangular nuclear cataractAbnormality of the eye HP:0000552 TritanomalyAbnormality of the eye HP:0007738 Uncontrolled eye movementsAbnormality of the eye HP:0007687 Unilateral ptosisAbnormality of the eye HP:0010877 Unilateral strabismusAbnormality of the eye HP:0011477 Upbeat nystagmusAbnormality of the eye HP:0000554 UveitisAbnormality of the eye HP:0010544 Vertical nystagmusAbnormality of the eye HP:0000511 Vertical supranuclear gaze palsyAbnormality of the eye HP:0010542 Vestibular nystagmusAbnormality of the eye HP:0001123 Visual field defectAbnormality of the eye HP:0000505 Visual impairmentAbnormality of the eye HP:0000572 Visual lossAbnormality of the eye HP:0007677 Vitelliform maculopathyAbnormality of the eye HP:0011531 VitreitisAbnormality of the eye HP:0007773 Vitreoretinal abnormalitiesAbnormality of the eye HP:0000655 Vitreoretinal degenerationAbnormality of the eye HP:0001489 Vitreous detachmentAbnormality of the eye HP:0007902 Vitreous hemorrhageAbnormality of the eye HP:0007715 Weak extraocular musclesAbnormality of the eye HP:0010920 Zonular cataract

Abnormality of prenatal development or birthAbnormality of prenatal HP:0001787 Abnormal deliveryAbnormality of prenatal HP:0011418 Abnormal insertion of umbilical cordAbnormality of prenatal HP:0011436 Abnormal maternal serum screeningAbnormality of prenatal HP:0012767 Abnormal placental sizeAbnormality of prenatal HP:0011403 Abnormal umbilical cord blood vesselsAbnormality of prenatal HP:0001194 Abnormalities of placenta and umbilical cordAbnormality of prenatal HP:0011409 Abnormality of placental membranesAbnormality of prenatal HP:0001197 Abnormality of prenatal development or birthAbnormality of prenatal HP:0001560 Abnormality of the amniotic fluidAbnormality of prenatal HP:0100767 Abnormality of the placenta

Abnormality of prenatal HP:0010881 Abnormality of the umbilical cordAbnormality of prenatal HP:0010949 Abnormality of umbilical vein blood flowAbnormality of prenatal HP:0010963 Absence of stomach bubble on fetal sonographAbnormality of prenatal HP:0009775 Amniotic constriction ringAbnormality of prenatal HP:0001623 Breech presentationAbnormality of prenatal HP:0011410 Caesarian sectionAbnormality of prenatal HP:0011415 Calcified placentaAbnormality of prenatal HP:0012541 CephalohematomaAbnormality of prenatal HP:0100883 ChorangiomaAbnormality of prenatal HP:0010860 Complete breech presentationAbnormality of prenatal HP:0001558 Decreased fetal movementAbnormality of prenatal HP:0010491 Digital constriction ringAbnormality of prenatal HP:0010943 Echogenic fetal bowelAbnormality of prenatal HP:0010942 Echogenic intracardiac focusAbnormality of prenatal HP:0100601 EclampsiaAbnormality of prenatal HP:0011427 Enlarged fetal cisterna magnaAbnormality of prenatal HP:0001989 Fetal akinesia sequenceAbnormality of prenatal HP:0001791 Fetal ascitesAbnormality of prenatal HP:0011426 Fetal choroid plexus cystsAbnormality of prenatal HP:0011431 Fetal fifth finger clinodactylyAbnormality of prenatal HP:0001563 Fetal polyuriaAbnormality of prenatal HP:0011425 Fetal ultrasound soft markerAbnormality of prenatal HP:0011411 Forceps deliveryAbnormality of prenatal HP:0010859 Frank breech presentationAbnormality of prenatal HP:0011432 High maternal serum alpha-fetoproteinAbnormality of prenatal HP:0011433 High maternal serum chorionic gonadotropinAbnormality of prenatal HP:0011414 Hydropic placentaAbnormality of prenatal HP:0001789 Hydrops fetalisAbnormality of prenatal HP:0012188 Hyperemesis gravidarumAbnormality of prenatal HP:0011430 Hypoplasia of fetal nasal boneAbnormality of prenatal HP:0010861 Incomplete breech presentationAbnormality of prenatal HP:0010519 Increased fetal movementAbnormality of prenatal HP:0010880 Increased nuchal translucencyAbnormality of prenatal HP:0006267 Large placentaAbnormality of prenatal HP:0011417 Long umbilical cordAbnormality of prenatal HP:0011435 Low maternal serum PAPP-AAbnormality of prenatal HP:0010570 Low maternal serum alpha-fetoproteinAbnormality of prenatal HP:0011434 Low maternal serum chorionic gonadotropinAbnormality of prenatal HP:0008073 Low maternal serum estriolAbnormality of prenatal HP:0012536 Maternal anticardiolipin antibody positiveAbnormality of prenatal HP:0011437 Maternal autoimmune diseaseAbnormality of prenatal HP:0100610 Maternal hyperphenylalaninemiaAbnormality of prenatal HP:0008071 Maternal hypertensionAbnormality of prenatal HP:0100622 Maternal seizuresAbnormality of prenatal HP:0011438 Maternal teratogenic exposureAbnormality of prenatal HP:0008072 Maternal virilization in pregnancyAbnormality of prenatal HP:0012420 Meconium stained amniotic fluidAbnormality of prenatal HP:0001790 Nonimmune hydrops fetalisAbnormality of prenatal HP:0012498 Nuchal cordAbnormality of prenatal HP:0001562 Oligohydramnios

Abnormality of prenatal HP:0011419 Placental abruptionAbnormality of prenatal HP:0011416 Placental infarctionAbnormality of prenatal HP:0001561 PolyhydramniosAbnormality of prenatal HP:0100602 PreeclampsiaAbnormality of prenatal HP:0001622 Premature birthAbnormality of prenatal HP:0005267 Premature delivery because of cervical insufficiency or membrane fragilityAbnormality of prenatal HP:0001788 Premature rupture of membranesAbnormality of prenatal HP:0002686 Prenatal maternal abnormalityAbnormality of prenatal HP:0001557 Prenatal movement abnormalityAbnormality of prenatal HP:0200067 Recurrent spontaneous abortionAbnormality of prenatal HP:0005099 Severe hydrops fetalisAbnormality of prenatal HP:0011428 Short fetal femur lengthAbnormality of prenatal HP:0011429 Short fetal humerus lengthAbnormality of prenatal HP:0001196 Short umbilical cordAbnormality of prenatal HP:0011413 Shoulder dystociaAbnormality of prenatal HP:0001195 Single umbilical arteryAbnormality of prenatal HP:0012546 Skewed maternal X inactivationAbnormality of prenatal HP:0006266 Small placentaAbnormality of prenatal HP:0005268 Spontaneous abortionAbnormality of prenatal HP:0100603 Toxemia of pregnancyAbnormality of prenatal HP:0011412 Ventouse deliveryAbnormality of prenatal HP:0005100 premature birth following premature rupture of fetal membranes

Abnormality of the immune systemAbnormality of the imm HP:0012647 Abnormal inflammatory responseAbnormality of the imm HP:0010987 Abnormality of cellular immune systemAbnormality of the imm HP:0011115 Abnormality of chemokine secretionAbnormality of the imm HP:0005339 Abnormality of complement systemAbnormality of the imm HP:0011113 Abnormality of cytokine secretionAbnormality of the imm HP:0005368 Abnormality of humoral immunityAbnormality of the imm HP:0011111 Abnormality of immune serum protein physioloAbnormality of the imm HP:0010978 Abnormality of immune system physiologyAbnormality of the imm HP:0011116 Abnormality of interferon secretionAbnormality of the imm HP:0011117 Abnormality of interleukin secretionAbnormality of the imm HP:0011112 Abnormality of serum cytokine levelAbnormality of the imm HP:0005482 Abnormality of the alternate complement pathwayAbnormality of the imm HP:0002715 Abnormality of the immune systemAbnormality of the imm HP:0002733 Abnormality of the lymph nodesAbnormality of the imm HP:0100763 Abnormality of the lymphatic systemAbnormality of the imm HP:0100766 Abnormality of the lymphatic vesselsAbnormality of the imm HP:0000777 Abnormality of the thymusAbnormality of the imm HP:0100765 Abnormality of the tonsilsAbnormality of the imm HP:0011118 Abnormality of tumor necrosis factor secretionAbnormality of the imm HP:0002849 Absence of lymph node germinal centerAbnormality of the imm HP:0012393 AllergyAbnormality of the imm HP:0100845 Anaphylactic shockAbnormality of the imm HP:0003453 Antineutrophil antibody positivityAbnormality of the imm HP:0003493 Antinuclear antibody positivityAbnormality of the imm HP:0003613 Antiphospholipid antibody positivityAbnormality of the imm HP:0005359 Aplasia of the thymusAbnormality of the imm HP:0010515 Aplasia/Hypoplasia of the thymus

Abnormality of the imm HP:0002960 AutoimmunityAbnormality of the imm HP:0004434 C8 deficiencyAbnormality of the imm HP:0005374 Cellular immunodeficiencyAbnormality of the imm HP:0003553 Cellulitis due to immunodeficiencyAbnormality of the imm HP:0002730 Chronic noninfectious lymphadenopathyAbnormality of the imm HP:0012224 Circulating immune complexesAbnormality of the imm HP:0005387 Combined immunodeficiencyAbnormality of the imm HP:0004431 Complement deficiencyAbnormality of the imm HP:0100327 Cow milk allergyAbnormality of the imm HP:0100778 CryoglobulinemiaAbnormality of the imm HP:0012648 Decreased inflammatory responseAbnormality of the imm HP:0005421 Decreased serum complement C3Abnormality of the imm HP:0012308 Decreased serum complement C9Abnormality of the imm HP:0005416 Decreased serum complement factor BAbnormality of the imm HP:0005369 Decreased serum complement factor HAbnormality of the imm HP:0005356 Decreased serum complement factor IAbnormality of the imm HP:0011114 Defective production of NFKB1-dependent cytoAbnormality of the imm HP:0005389 Depletion of components of the alternative complement pathwayAbnormality of the imm HP:0005423 Dysfunctional alternative complement pathwayAbnormality of the imm HP:0010517 Ectopic thymus tissueAbnormality of the imm HP:0003729 Enteroviral dermatomyositis syndromeAbnormality of the imm HP:0008866 Failure to thrive secondary to recurrent infectionsAbnormality of the imm HP:0002729 Follicular hyperplasiaAbnormality of the imm HP:0008940 Generalized lymphadenopathyAbnormality of the imm HP:0012302 Herpes simplex encephalitisAbnormality of the imm HP:0003759 Hypoplasia of lymphatic vesselsAbnormality of the imm HP:0000778 Hypoplasia of the thymusAbnormality of the imm HP:0002958 Immune dysregulationAbnormality of the imm HP:0002721 ImmunodeficiencyAbnormality of the imm HP:0100326 Immunologic hypersensitivityAbnormality of the imm HP:0012649 Increased inflammatory responseAbnormality of the imm HP:0012394 Iodine contrast allergyAbnormality of the imm HP:0002732 Lymph node hypoplasiaAbnormality of the imm HP:0002840 LymphadenitisAbnormality of the imm HP:0002716 LymphadenopathyAbnormality of the imm HP:0100764 LymphangiomaAbnormality of the imm HP:0100721 Mediastinal lymphadenopathyAbnormality of the imm HP:0100521 Neoplasm of the thymusAbnormality of the imm HP:0012203 OnychomycosisAbnormality of the imm HP:0005375 Partial cellular immunodeficiencyAbnormality of the imm HP:0008290 Partial complement factor H deficiencyAbnormality of the imm HP:0008338 Partial functional complement factor D deficiencyAbnormality of the imm HP:0005363 Partial humoral immunodeficiencyAbnormality of the imm HP:0003454 Platelet antibody positiveAbnormality of the imm HP:0002724 Recurrent Aspergillus infectionsAbnormality of the imm HP:0002842 Recurrent Burkholderia cepacia infectionsAbnormality of the imm HP:0002740 Recurrent E. coli infectionsAbnormality of the imm HP:0005376 Recurrent Haemophilus influenzae infectionsAbnormality of the imm HP:0002742 Recurrent Klebsiella infectionsAbnormality of the imm HP:0005430 Recurrent Neisserial infections

Abnormality of the imm HP:0002741 Recurrent Serratia marcescens infectionsAbnormality of the imm HP:0002726 Recurrent Staphylococcus aureus infectionsAbnormality of the imm HP:0002722 Recurrent abscess formationAbnormality of the imm HP:0002718 Recurrent bacterial infectionsAbnormality of the imm HP:0005401 Recurrent candida infectionsAbnormality of the imm HP:0002743 Recurrent enteroviral infectionsAbnormality of the imm HP:0002841 Recurrent fungal infectionsAbnormality of the imm HP:0005420 Recurrent gram-negative bacterial infectionsAbnormality of the imm HP:0002719 Recurrent infectionsAbnormality of the imm HP:0005437 Recurrent infections in infancy and early childAbnormality of the imm HP:0005381 Recurrent meningococcal diseaseAbnormality of the imm HP:0011274 Recurrent mycobacterial infectionsAbnormality of the imm HP:0011275 Recurrent mycobacterium avium complex infectAbnormality of the imm HP:0005390 Recurrent opportunistic infectionsAbnormality of the imm HP:0005386 Recurrent protozoan infectionsAbnormality of the imm HP:0007499 Recurrent staphylococcal infectionsAbnormality of the imm HP:0005429 Recurrent systemic pyogenic infectionsAbnormality of the imm HP:0004429 Recurrent viral infectionsAbnormality of the imm HP:0002923 Rheumatoid factor positiveAbnormality of the imm HP:0012395 Seasonal allergyAbnormality of the imm HP:0100806 SepsisAbnormality of the imm HP:0005352 Severe T-cell immunodeficiencyAbnormality of the imm HP:0004430 Severe combined immunodeficiencyAbnormality of the imm HP:0005428 Severe recurrent varicellaAbnormality of the imm HP:0005364 Severe viral infectionsAbnormality of the imm HP:0003262 Smooth muscle antibody positivityAbnormality of the imm HP:0005360 Susceptibility to chickenpoxAbnormality of the imm HP:0005396 Susceptibility to coronavirus 229eAbnormality of the imm HP:0005353 Susceptibility to herpesvirusAbnormality of the imm HP:0002725 Systemic lupus erythematosusAbnormality of the imm HP:0007408 Tegumentary leishmaniasis susceptibilityAbnormality of the imm HP:0003357 Thymic hormone decreasedAbnormality of the imm HP:0100522 ThymomaAbnormality of the imm HP:0010516 Thymus hyperplasiaAbnormality of the imm HP:0011110 Tonsillitis

Abnormality of the earAbnormality of the ear HP:0000357 Abnormal location of earsAbnormality of the ear HP:0004454 Abnormal middle ear reflexesAbnormality of the ear HP:0001963 Abnormal speech discriminationAbnormality of the ear HP:0007670 Abnormal vestibulo-ocular reflexAbnormality of the ear HP:0000375 Abnormality of cochleaAbnormality of the ear HP:0000363 Abnormality of earlobeAbnormality of the ear HP:0011243 Abnormality of inferior crus of antihelixAbnormality of the ear HP:0000383 Abnormality of periauricular regionAbnormality of the ear HP:0011244 Abnormality of stem of antihelixAbnormality of the ear HP:0011245 Abnormality of superior crus of antihelixAbnormality of the ear HP:0009738 Abnormality of the antihelixAbnormality of the ear HP:0009896 Abnormality of the antitragusAbnormality of the ear HP:0000372 Abnormality of the auditory canalAbnormality of the ear HP:0011396 Abnormality of the cochlear nerve

Abnormality of the ear HP:0009895 Abnormality of the crus of the helixAbnormality of the ear HP:0000598 Abnormality of the earAbnormality of the ear HP:0011039 Abnormality of the helixAbnormality of the ear HP:0011453 Abnormality of the incusAbnormality of the ear HP:0000359 Abnormality of the inner earAbnormality of the ear HP:0011384 Abnormality of the internal auditory canalAbnormality of the ear HP:0011454 Abnormality of the malleusAbnormality of the ear HP:0000370 Abnormality of the middle earAbnormality of the ear HP:0004452 Abnormality of the middle ear ossiclesAbnormality of the ear HP:0000356 Abnormality of the outer earAbnormality of the ear HP:0000377 Abnormality of the pinnaAbnormality of the ear HP:0008628 Abnormality of the stapesAbnormality of the ear HP:0009912 Abnormality of the tragusAbnormality of the ear HP:0011392 Abnormality of the vestibular nerveAbnormality of the ear HP:0008544 Abnormally folded helixAbnormality of the ear HP:0008529 Absence of acoustic reflexAbnormality of the ear HP:0011234 Absent antihelixAbnormality of the ear HP:0011249 Absent antitragusAbnormality of the ear HP:0011255 Absent crus of helixAbnormality of the ear HP:0000387 Absent earlobeAbnormality of the ear HP:0011385 Absent internal auditory canalAbnormality of the ear HP:0011455 Absent malleusAbnormality of the ear HP:0011456 Absent stapesAbnormality of the ear HP:0200111 Absent stapes headAbnormality of the ear HP:0011268 Absent tragusAbnormality of the ear HP:0008555 Absent vestibular functionAbnormality of the ear HP:0000371 Acute otitis mediaAbnormality of the ear HP:0011235 Additional crus of antihelixAbnormality of the ear HP:0008615 Adult onset sensorineural hearing impairmentAbnormality of the ear HP:0011975 Aminoglycoside-induced hearing lossAbnormality of the ear HP:0011236 Angulated antihelixAbnormality of the ear HP:0009892 AnotiaAbnormality of the ear HP:0009908 Anterior creases of earlobeAbnormality of the ear HP:0011233 Antihelical shelfAbnormality of the ear HP:0011372 Aplasia of the inner earAbnormality of the ear HP:0009910 Aplasia of the middle ear ossiclesAbnormality of the ear HP:0011381 Aplasia of the semicircular canalAbnormality of the ear HP:0011393 Aplasia of the vestibular nerve.Abnormality of the ear HP:0011377 Aplasia of the vestibuleAbnormality of the ear HP:0011395 Aplasia/Hypoplasia of the cochleaAbnormality of the ear HP:0008771 Aplasia/Hypoplasia of the earAbnormality of the ear HP:0009906 Aplasia/Hypoplasia of the earlobesAbnormality of the ear HP:0008772 Aplasia/Hypoplasia of the external earAbnormality of the ear HP:0008774 Aplasia/Hypoplasia of the inner earAbnormality of the ear HP:0008773 Aplasia/Hypoplasia of the middle earAbnormality of the ear HP:0009913 Aplasia/Hypoplasia of the tragusAbnormality of the ear HP:0010722 Asymmetry of the earsAbnormality of the ear HP:0000413 Atresia of the external auditory canalAbnormality of the ear HP:0009907 Attached earlobeAbnormality of the ear HP:0011250 Bifid antitragus

Abnormality of the ear HP:0011269 Bifid tragusAbnormality of the ear HP:0008513 Bilateral conductive hearing impairmentAbnormality of the ear HP:0008619 Bilateral sensorineural hearing impairmentAbnormality of the ear HP:0011237 Broad inferior crus of antihelixAbnormality of the ear HP:0005103 Calcification of the auricular cartilageAbnormality of the ear HP:0011474 Childhood onset sensorineural hearing impairmAbnormality of the ear HP:0009797 CholesteatomaAbnormality of the ear HP:0200047 Chondritis of pinnaAbnormality of the ear HP:0000389 Chronic otitis mediaAbnormality of the ear HP:0008537 Cleft at the superior portion of the pinnaAbnormality of the ear HP:0011265 Cleft earlobeAbnormality of the ear HP:0009902 Cleft helixAbnormality of the ear HP:0011375 Cochlear aplasiaAbnormality of the ear HP:0005102 Cochlear degenerationAbnormality of the ear HP:0008554 Cochlear malformationAbnormality of the ear HP:0000405 Conductive hearing impairmentAbnormality of the ear HP:0008591 Congenital conductive hearing impairmentAbnormality of the ear HP:0004461 Congenital earlobe sinusesAbnormality of the ear HP:0008527 Congenital sensorineural hearing impairmentAbnormality of the ear HP:0007943 Congenital stapes ankylosisAbnormality of the ear HP:0011262 Crimped helixAbnormality of the ear HP:0009901 Crumpled earAbnormality of the ear HP:0011256 Crus of helix connected to antihelixAbnormality of the ear HP:0011252 CryptotiaAbnormality of the ear HP:0000378 Cupped earAbnormality of the ear HP:0010723 Cystic lesions of the pinnaeAbnormality of the ear HP:0011260 Darwin notch of helixAbnormality of the ear HP:0011261 Darwin tubercle of helixAbnormality of the ear HP:0004458 Dilatated internal auditory canalAbnormality of the ear HP:0011379 Dilated vestibule of the inner earAbnormality of the ear HP:0011264 Discontinuous ascending root of helixAbnormality of the ear HP:0011270 Duplicated tragusAbnormality of the ear HP:0011388 Enlarged cochlear aqueductAbnormality of the ear HP:0011383 Enlarged semicircular canalAbnormality of the ear HP:0011387 Enlarged vestibular aqueductAbnormality of the ear HP:0011248 Everted antitragusAbnormality of the ear HP:0004459 Exostosis of the external auditory canalAbnormality of the ear HP:0011259 Expanded terminal portion of crus of helixAbnormality of the ear HP:0008572 External ear malformationAbnormality of the ear HP:0011263 Forward facing earlobeAbnormality of the ear HP:0011389 Functional abnormality of the inner earAbnormality of the ear HP:0011452 Functional abnormality of the middle earAbnormality of the ear HP:0005473 Fusion of middle ear ossiclesAbnormality of the ear HP:0000364 Hearing abnormalityAbnormality of the ear HP:0000365 Hearing impairmentAbnormality of the ear HP:0005101 High-frequency hearing impairmentAbnormality of the ear HP:0001757 High-frequency sensorineural hearing impairmeAbnormality of the ear HP:0009897 Horizontal crus of helixAbnormality of the ear HP:0010780 HyperacusisAbnormality of the ear HP:0008608 Hypertrophic auricular cartilage

Abnormality of the ear HP:0009739 Hypoplasia of the antihelixAbnormality of the ear HP:0008586 Hypoplasia of the cochleaAbnormality of the ear HP:0100720 Hypoplasia of the ear cartilageAbnormality of the ear HP:0011382 Hypoplasia of the semicircular canalAbnormality of the ear HP:0011394 Hypoplasia of the vestibular nerveAbnormality of the ear HP:0011378 Hypoplasia of the vestibule of the inner earAbnormality of the ear HP:0008589 Hypoplastic helicesAbnormality of the ear HP:0008559 Hypoplastic superior helixAbnormality of the ear HP:0011373 Incomplete partition of the cochleaAbnormality of the ear HP:0011374 Incomplete partition of the cochlea type IAbnormality of the ear HP:0000376 Incomplete partition of the cochlea type IIAbnormality of the ear HP:0008610 Infantile sensorineural hearing impairmentAbnormality of the ear HP:0009748 Large earlobeAbnormality of the ear HP:0002265 Large fleshy earsAbnormality of the ear HP:0008528 Long hairs growing from helix of pinnaAbnormality of the ear HP:0000394 Lop earAbnormality of the ear HP:0008542 Low-frequency hearing lossAbnormality of the ear HP:0008573 Low-frequency sensorineural hearing impairmeAbnormality of the ear HP:0000369 Low-set earsAbnormality of the ear HP:0000368 Low-set, posteriorly rotated earsAbnormality of the ear HP:0000400 MacrotiaAbnormality of the ear HP:0008551 MicrotiaAbnormality of the ear HP:0011266 Microtia, first degreeAbnormality of the ear HP:0008569 Microtia, second degreeAbnormality of the ear HP:0011267 Microtia, third degreeAbnormality of the ear HP:0012781 Mid-frequency hearing lossAbnormality of the ear HP:0008598 Mild conductive hearing impairmentAbnormality of the ear HP:0012712 Mild hearing impairmentAbnormality of the ear HP:0008587 Mild neurosensory hearing impairmentAbnormality of the ear HP:0000410 Mixed hearing impairmentAbnormality of the ear HP:0012716 Moderate conductive hearing impairmentAbnormality of the ear HP:0012713 Moderate hearing impairmentAbnormality of the ear HP:0008504 Moderate sensorineural hearing impairmentAbnormality of the ear HP:0011390 Morphological abnormality of the inner earAbnormality of the ear HP:0008609 Morphological abnormality of the middle earAbnormality of the ear HP:0011391 Morphological abnormality of the nerves of the inner earAbnormality of the ear HP:0011380 Morphological abnormality of the semicircular cAbnormality of the ear HP:0011376 Morphological abnormality of the vestibule of thAbnormality of the ear HP:0011386 Narrow internal auditory canalAbnormality of the ear HP:0012780 Neoplasm of the earAbnormality of the ear HP:0100799 Neoplasm of the middle earAbnormality of the ear HP:0000388 Otitis mediaAbnormality of the ear HP:0000362 OtosclerosisAbnormality of the ear HP:0000396 Overfolded helixAbnormality of the ear HP:0004453 Overfolding of the superior helicesAbnormality of the ear HP:0010532 Paroxysmal vertigoAbnormality of the ear HP:0100277 Periauricular skin pitsAbnormality of the ear HP:0011475 Persistent stapedial arteryAbnormality of the ear HP:0100810 Pointed helixAbnormality of the ear HP:0100687 Polyotia

Abnormality of the ear HP:0004464 Postauricular pitAbnormality of the ear HP:0004451 Postauricular skin tagAbnormality of the ear HP:0008523 Posterior helix pitAbnormality of the ear HP:0000358 Posteriorly rotated earsAbnormality of the ear HP:0008596 Postlingual sensorineural hearing impairmentAbnormality of the ear HP:0004467 Preauricular pitAbnormality of the ear HP:0004450 Preauricular skin furrowAbnormality of the ear HP:0000384 Preauricular skin tagAbnormality of the ear HP:0000399 Prelingual sensorineural hearing impairmentAbnormality of the ear HP:0012715 Profound hearing impairmentAbnormality of the ear HP:0011476 Profound sensorineural hearing impairmentAbnormality of the ear HP:0008607 Progressive conductive hearing impairmentAbnormality of the ear HP:0001730 Progressive hearing impairmentAbnormality of the ear HP:0000408 Progressive sensorineural hearing impairmentAbnormality of the ear HP:0000395 Prominent antihelixAbnormality of the ear HP:0008593 Prominent antitragusAbnormality of the ear HP:0009899 Prominent crus of helixAbnormality of the ear HP:0009904 Prominent ear helixAbnormality of the ear HP:0011238 Prominent inferior crus of antihelixAbnormality of the ear HP:0011240 Prominent stem of antihelixAbnormality of the ear HP:0011247 Prominent superior crus of antihelixAbnormality of the ear HP:0011271 Prominent tragusAbnormality of the ear HP:0000411 Protruding earAbnormality of the ear HP:0008629 Pulsatile tinnitusAbnormality of the ear HP:0000361 Pulsatile tinnitus (tympanic paraganglioma)Abnormality of the ear HP:0000403 Recurrent otitis mediaAbnormality of the ear HP:0100830 Round earAbnormality of the ear HP:0000407 Sensorineural hearing impairmentAbnormality of the ear HP:0011257 Serpiginous crus of helixAbnormality of the ear HP:0011241 Serpiginous stem of antihelixAbnormality of the ear HP:0012717 Severe conductive hearing impairmentAbnormality of the ear HP:0012714 Severe hearing impairmentAbnormality of the ear HP:0008625 Severe sensorineural hearing impairmentAbnormality of the ear HP:0008588 Slit-like opening of the exterior auditory meatusAbnormality of the ear HP:0000385 Small earlobeAbnormality of the ear HP:0100015 Stahl earAbnormality of the ear HP:0000381 Stapes ankylosisAbnormality of the ear HP:0000402 Stenosis of the external auditory canalAbnormality of the ear HP:0008541 Superiorly displaced earsAbnormality of the ear HP:0008606 Supraauricular pitAbnormality of the ear HP:0100663 SynotiaAbnormality of the ear HP:0009893 Telangiectasia of the earAbnormality of the ear HP:0009894 Thickened earsAbnormality of the ear HP:0000391 Thickened helicesAbnormality of the ear HP:0009905 Thin ear helixAbnormality of the ear HP:0000360 TinnitusAbnormality of the ear HP:0011258 Tragal bridge of crus of helixAbnormality of the ear HP:0012779 Transient hearing impairmentAbnormality of the ear HP:0011253 Type I cryptotiaAbnormality of the ear HP:0011254 Type II cryptotia

Abnormality of the ear HP:0011251 Underdeveloped antitragusAbnormality of the ear HP:0009898 Underdeveloped crus of the helixAbnormality of the ear HP:0011239 Underdeveloped inferior crus of antihelixAbnormality of the ear HP:0011242 Underdeveloped stem of antihelixAbnormality of the ear HP:0011246 Underdeveloped superior crus of antihelixAbnormality of the ear HP:0011272 Underdeveloped tragusAbnormality of the ear HP:0008577 Underfolded helixAbnormality of the ear HP:0008583 Underfolded superior helicesAbnormality of the ear HP:0009900 Unilateral deafnessAbnormality of the ear HP:0008605 Unilateral external ear deformityAbnormality of the ear HP:0009909 Uplifted earlobeAbnormality of the ear HP:0002321 VertigoAbnormality of the ear HP:0008568 Vestibular areflexiaAbnormality of the ear HP:0001751 Vestibular dysfunctionAbnormality of the ear HP:0001756 Vestibular hypofunction

Abnormality of the musculatureAbnormality of the musc HP:0012269 Abnormal muscle glycogen contentAbnormality of the musc HP:0003808 Abnormal muscle toneAbnormality of the musc HP:0004303 Abnormality of muscle fibersAbnormality of the musc HP:0011805 Abnormality of muscle morphologyAbnormality of the musc HP:0011804 Abnormality of muscle physiologyAbnormality of the musc HP:0012084 Abnormality of skeletal muscle fiber sizeAbnormality of the musc HP:0011957 Abnormality of the pectoral muscleAbnormality of the musc HP:0001443 Abnormality of the gluteal musculatureAbnormality of the musc HP:0001445 Abnormality of the hip-girdle musculatureAbnormality of the musc HP:0003011 Abnormality of the musculatureAbnormality of the musc HP:0001469 Abnormality of the musculature of the pelvisAbnormality of the musc HP:0009131 Abnormality of the musculature of the thoraxAbnormality of the musc HP:0005255 Absence of pectoralis minor muscleAbnormality of the musc HP:0007280 Acute infantile spinal muscular atrophyAbnormality of the musc HP:0008942 Acute rhabdomyolysisAbnormality of the musc HP:0011440 Alcohol-induced rhabdomyolysisAbnormality of the musc HP:0003202 AmyotrophyAbnormality of the musc HP:0003665 Amyotrophy of the musculature of the pelvisAbnormality of the musc HP:0011439 Anesthetic-induced rhabdomylosisAbnormality of the musc HP:0100854 Aplasia of the musculatureAbnormality of the musc HP:0001460 Aplasia/Hypoplasia involving the musculatureAbnormality of the musc HP:0001471 Aplasia/Hypoplasia of the musculature of the pelvisAbnormality of the musc HP:0012389 Appendicular hypotoniaAbnormality of the musc HP:0007156 Asymmetric limb muscle stiffnessAbnormality of the musc HP:0003736 Autophagic vacuolesAbnormality of the musc HP:0006921 Axial muscle stiffnessAbnormality of the musc HP:0003327 Axial muscle weaknessAbnormality of the musc HP:0003761 CalcinosisAbnormality of the musc HP:0003687 Centrally nucleated skeletal muscle fibersAbnormality of the musc HP:0003435 Cold-induced hand crampsAbnormality of the musc HP:0003449 Cold-induced muscle crampsAbnormality of the musc HP:0012904 Cold-sensitive myotoniaAbnormality of the musc HP:0009013 Congenital absence of gluteal musclesAbnormality of the musc HP:0003741 Congenital muscular dystrophy

Abnormality of the musc HP:0003688 Decreased activity of cytochrome C oxidase in Abnormality of the musc HP:0012270 Decreased muscle glycogen contentAbnormality of the musc HP:0003199 Decreased muscle massAbnormality of the musc HP:0009141 Depletion of mitochondrial DNA in muscle tissueAbnormality of the musc HP:0003791 Deposits immunoreactive to beta-amyloid proteinAbnormality of the musc HP:0100300 Desmin bodiesAbnormality of the musc HP:0003551 Difficulty climbing stairsAbnormality of the musc HP:0009046 Difficulty runningAbnormality of the musc HP:0003698 Difficulty standingAbnormality of the musc HP:0003693 Distal amyotrophyAbnormality of the musc HP:0008944 Distal lower limb amyotrophyAbnormality of the musc HP:0009053 Distal lower limb muscle weaknessAbnormality of the musc HP:0002460 Distal muscle weaknessAbnormality of the musc HP:0008959 Distal upper limb muscle weaknessAbnormality of the musc HP:0003457 EMG abnormalityAbnormality of the musc HP:0003482 EMG: axonal abnormalityAbnormality of the musc HP:0003444 EMG: chronic denervation signsAbnormality of the musc HP:0100283 EMG: continuous motor unit activity at restAbnormality of the musc HP:0003403 EMG: decremental response of compound muscle Abnormality of the musc HP:0100285 EMG: impaired neuromuscular transmissionAbnormality of the musc HP:0003458 EMG: myopathic abnormalitiesAbnormality of the musc HP:0100284 EMG: myotonic dischargesAbnormality of the musc HP:0003730 EMG: myotonic runsAbnormality of the musc HP:0003445 EMG: neuropathic changesAbnormality of the musc HP:0100287 EMG: slow motor conductionAbnormality of the musc HP:0003752 Episodic flaccid weaknessAbnormality of the musc HP:0006852 Episodic generalized hypotoniaAbnormality of the musc HP:0003546 Exercise intoleranceAbnormality of the musc HP:0008991 Exercise-induced leg crampsAbnormality of the musc HP:0003710 Exercise-induced muscle crampsAbnormality of the musc HP:0009020 Exercise-induced muscle fatigueAbnormality of the musc HP:0008967 Exercise-induced muscle stiffnessAbnormality of the musc HP:0003738 Exercise-induced myalgiaAbnormality of the musc HP:0009045 Exercise-induced rhabdomyolysisAbnormality of the musc HP:0012892 Facial muscle hypertrophyAbnormality of the musc HP:0003725 Firm musclesAbnormality of the musc HP:0003426 First dorsal interossei muscle atrophyAbnormality of the musc HP:0003392 First dorsal interossei muscle weaknessAbnormality of the musc HP:0004302 Functional motor problems.Abnormality of the musc HP:0003634 Generalized amyoplasiaAbnormality of the musc HP:0003700 Generalized amyotrophyAbnormality of the musc HP:0001290 Generalized hypotoniaAbnormality of the musc HP:0009055 Generalized limb muscle atrophyAbnormality of the musc HP:0003720 Generalized muscle hypertrophyAbnormality of the musc HP:0003324 Generalized muscle weaknessAbnormality of the musc HP:0003716 Generalized muscular appearance from birthAbnormality of the musc HP:0008935 Generalized neonatal hypotoniaAbnormality of the musc HP:0003391 Gowers signAbnormality of the musc HP:0012899 Handgrip myotoniaAbnormality of the musc HP:0012515 Hip flexor weakness

Abnormality of the musc HP:0009026 Hypoplasia of latissimus dorsi muscleAbnormality of the musc HP:0009011 Hypoplasia of serratus anterior muscleAbnormality of the musc HP:0009004 Hypoplasia of the musculatureAbnormality of the musc HP:0100297 Increased endomysial connective tissueAbnormality of the musc HP:0012240 Increased intramyocellular lipid dropletsAbnormality of the musc HP:0003750 Increased muscle fatiguabilityAbnormality of the musc HP:0009051 Increased muscle glycogen contentAbnormality of the musc HP:0009058 Increased muscle lipid contentAbnormality of the musc HP:0003557 Increased variability in muscle fiber diameterAbnormality of the musc HP:0009062 Infantile axial hypotoniaAbnormality of the musc HP:0008947 Infantile muscular hypotoniaAbnormality of the musc HP:0009071 Inflammatory myopathyAbnormality of the musc HP:0007181 Interosseus muscle atrophyAbnormality of the musc HP:0012233 Intramuscular hematomaAbnormality of the musc HP:0003810 Late-onset distal muscle weaknessAbnormality of the musc HP:0007081 Late-onset muscular dystrophyAbnormality of the musc HP:0003694 Late-onset proximal muscle weaknessAbnormality of the musc HP:0008969 Leg muscle stiffnessAbnormality of the musc HP:0009069 Lethal infantile mitochondrial myopathyAbnormality of the musc HP:0003690 Limb muscle weaknessAbnormality of the musc HP:0003797 Limb-girdle muscle atrophyAbnormality of the musc HP:0003325 Limb-girdle muscle weaknessAbnormality of the musc HP:0006785 Limb-girdle muscular dystrophyAbnormality of the musc HP:0007210 Lower limb amyotrophyAbnormality of the musc HP:0007340 Lower limb muscle weaknessAbnormality of the musc HP:0009042 Marked muscular hypertrophyAbnormality of the musc HP:0003789 Minicore (multicore) myopathyAbnormality of the musc HP:0003737 Mitochondrial myopathyAbnormality of the musc HP:0100298 Motheaten muscle fibersAbnormality of the musc HP:0003689 Multiple mitochondrial DNA deletionsAbnormality of the musc HP:0003800 Muscle abnormality related to mitochondrial dysfunctionAbnormality of the musc HP:0003394 Muscle crampsAbnormality of the musc HP:0100295 Muscle fiber atrophyAbnormality of the musc HP:0100303 Muscle fiber cytoplasmatic inclusion bodiesAbnormality of the musc HP:0100306 Muscle fiber hyaline bodiesAbnormality of the musc HP:0100293 Muscle fiber hypertrophyAbnormality of the musc HP:0100299 Muscle fiber inclusion bodiesAbnormality of the musc HP:0100304 Muscle fiber intranuclear inclusion bodiesAbnormality of the musc HP:0003713 Muscle fiber necrosisAbnormality of the musc HP:0003555 Muscle fiber splittingAbnormality of the musc HP:0100301 Muscle fiber tubular inclusionsAbnormality of the musc HP:0100302 Muscle fiber tubuloreticular inclusionsAbnormality of the musc HP:0010547 Muscle flaccidityAbnormality of the musc HP:0003559 Muscle hyperirritabilityAbnormality of the musc HP:0003712 Muscle hypertrophyAbnormality of the musc HP:0008968 Muscle hypertrophy of the lower extremitiesAbnormality of the musc HP:0003719 Muscle moundingAbnormality of the musc HP:0003552 Muscle stiffnessAbnormality of the musc HP:0001324 Muscle weaknessAbnormality of the musc HP:0003560 Muscular dystrophy

Abnormality of the musc HP:0001252 Muscular hypotoniaAbnormality of the musc HP:0008936 Muscular hypotonia of the trunkAbnormality of the musc HP:0003326 MyalgiaAbnormality of the musc HP:0003715 Myofibrillar myopathyAbnormality of the musc HP:0003198 MyopathyAbnormality of the musc HP:0100614 MyositisAbnormality of the musc HP:0002486 MyotoniaAbnormality of the musc HP:0012900 Myotonia of the faceAbnormality of the musc HP:0012901 Myotonia of the jawAbnormality of the musc HP:0012902 Myotonia of the lower limbAbnormality of the musc HP:0012903 Myotonia of the upper limbAbnormality of the musc HP:0003740 Myotonia with warm-up phenomenonAbnormality of the musc HP:0012893 Neck muscle hypertrophyAbnormality of the musc HP:0008984 Neck muscle hypoplasiaAbnormality of the musc HP:0008978 Necrotizing myopathyAbnormality of the musc HP:0003798 Nemaline bodiesAbnormality of the musc HP:0001319 Neonatal hypotoniaAbnormality of the musc HP:0008964 Nonprogressive muscular atrophyAbnormality of the musc HP:0011809 Paradoxical myotoniaAbnormality of the musc HP:0012894 Paraspinal muscle hypertrophyAbnormality of the musc HP:0002601 Paresis of extensor muscles of the big toeAbnormality of the musc HP:0012037 Pectoralis amyotrophyAbnormality of the musc HP:0008953 Pectoralis major hypoplasiaAbnormality of the musc HP:0008946 Pelvic girdle amyotrophyAbnormality of the musc HP:0008988 Pelvic girdle muscle atrophyAbnormality of the musc HP:0003749 Pelvic girdle muscle weaknessAbnormality of the musc HP:0010548 Percussion myotoniaAbnormality of the musc HP:0003760 Percussion-induced rapid rolling muscle contractions (PIRC)Abnormality of the musc HP:0100296 Perifascicular muscle fiber atrophyAbnormality of the musc HP:0011727 Peroneal muscle weaknessAbnormality of the musc HP:0002421 Poor head controlAbnormality of the musc HP:0009063 Progressive distal muscle weaknessAbnormality of the musc HP:0008955 Progressive distal muscular atrophyAbnormality of the musc HP:0003323 Progressive muscle weaknessAbnormality of the musc HP:0009073 Progressive proximal muscle weaknessAbnormality of the musc HP:0009067 Progressive spinal muscular atrophyAbnormality of the musc HP:0007126 Proximal amyotrophyAbnormality of the musc HP:0007066 Proximal limb muscle stiffnessAbnormality of the musc HP:0003701 Proximal muscle weaknessAbnormality of the musc HP:0008994 Proximal muscle weakness in lower limbsAbnormality of the musc HP:0008997 Proximal muscle weakness in upper limbsAbnormality of the musc HP:0006959 Proximal spinal muscular atrophyAbnormality of the musc HP:0008948 Proximal upper limb amyotrophyAbnormality of the musc HP:0003731 Quadriceps muscle weaknessAbnormality of the musc HP:0003200 Ragged-red muscle fibersAbnormality of the musc HP:0003201 RhabdomyolysisAbnormality of the musc HP:0003805 Rimmed vacuolesAbnormality of the musc HP:0100305 Ring fibersAbnormality of the musc HP:0012895 Scapular muscle hypertrophyAbnormality of the musc HP:0008970 Scapulohumeral muscular dystrophy

Abnormality of the musc HP:0003697 Scapuloperoneal amyotrophyAbnormality of the musc HP:0003704 Scapuloperoneal weaknessAbnormality of the musc HP:0009037 Segmental spinal muscular atrophyAbnormality of the musc HP:0006829 Severe muscular hypotoniaAbnormality of the musc HP:0006830 Severe neonatal hypotonia in malesAbnormality of the musc HP:0003724 Shoulder girdle muscle atrophyAbnormality of the musc HP:0012548 Skeletal muscle fatty infiltrationAbnormality of the musc HP:0003756 Skeletal myopathyAbnormality of the musc HP:0007269 Spinal muscular atrophyAbnormality of the musc HP:0012036 Sternocleidomastoid amyotrophyAbnormality of the musc HP:0003548 Subsarcolemmal accumulations of abnormally Abnormality of the musc HP:0001281 TetanyAbnormality of the musc HP:0003427 Thenar muscle weaknessAbnormality of the musc HP:0003733 Thigh hypertrophyAbnormality of the musc HP:0011399 Tibialis atrophyAbnormality of the musc HP:0008963 Tibialis muscle weaknessAbnormality of the musc HP:0003787 Type 1 and type 2 muscle fiber minicore regionAbnormality of the musc HP:0003755 Type 1 fibers relatively smaller than type 2 fibeAbnormality of the musc HP:0011807 Type 1 muscle fiber atrophyAbnormality of the musc HP:0003803 Type 1 muscle fiber predominanceAbnormality of the musc HP:0003554 Type 2 muscle fiber atrophyAbnormality of the musc HP:0010602 Type 2 muscle fiber predominanceAbnormality of the musc HP:0005256 Unilateral absence of pectoralis major muscleAbnormality of the musc HP:0011959 Unilateral hypoplasia of pectoralis major musclAbnormality of the musc HP:0003484 Upper limb muscle weaknessAbnormality of the musc HP:0003558 Viral infection-induced rhabdomyolysis

Abnormality of connective tissueAbnormality of connectiv HP:0100685 Abnormality of Sharpey fibersAbnormality of connectiv HP:0009124 Abnormality of adipose tissueAbnormality of connectiv HP:0003549 Abnormality of connective tissueAbnormality of connectiv HP:0100536 Abnormality of the fasciaAbnormality of connectiv HP:0007485 Absence of subcutaneous fatAbnormality of connectiv HP:0007409 Absence of subcutaneous fat over entire body except buttocks, hips, and thighsAbnormality of connectiv HP:0008887 Adipose tissue lossAbnormality of connectiv HP:0100658 CellulitisAbnormality of connectiv HP:0009059 Congenital generalized lipodystrophyAbnormality of connectiv HP:0005995 Decreased adipose tissue around neckAbnormality of connectiv HP:0100686 EnthesitisAbnormality of connectiv HP:0100537 FasciitisAbnormality of connectiv HP:0009064 Generalized lipodystrophyAbnormality of connectiv HP:0100823 Genital herniaAbnormality of connectiv HP:0100790 HerniaAbnormality of connectiv HP:0009126 Increased adipose tissueAbnormality of connectiv HP:0009025 Increased connective tissueAbnormality of connectiv HP:0008993 Increased intraabdominal fatAbnormality of connectiv HP:0008985 Increased intramuscular fatAbnormality of connectiv HP:0009003 Increased subcutaneous truncal adipose tissueAbnormality of connectiv HP:0005320 Lack of facial subcutaneous fatAbnormality of connectiv HP:0100578 LipoatrophyAbnormality of connectiv HP:0009125 Lipodystrophy

Abnormality of connectiv HP:0009017 Loss of gluteal subcutaneous adipose tissueAbnormality of connectiv HP:0009056 Loss of subcutaneous adipose tissue from upper limbsAbnormality of connectiv HP:0003635 Loss of subcutaneous adipose tissue in limbsAbnormality of connectiv HP:0009002 Loss of truncal subcutaneous adipose tissueAbnormality of connectiv HP:0003717 Minimal subcutaneous fatAbnormality of connectiv HP:0003809 Nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoAbnormality of connectiv HP:0012490 PanniculitisAbnormality of connectiv HP:0003758 Reduced subcutaneous adipose tissueAbnormality of connectiv HP:0100699 Scarring

Abnormality of the breastAbnormality of the breas HP:0000769 Abnormality of the breastAbnormality of the breas HP:0004404 Abnormality of the nippleAbnormality of the breas HP:0002561 Absent nipplesAbnormality of the breas HP:0010311 Aplasia/Hypoplasia of the breastsAbnormality of the breas HP:0006709 Aplasia/Hypoplasia of the nipplesAbnormality of the breas HP:0010312 Asymmetry of the breastsAbnormality of the breas HP:0012814 Bilateral breast hypoplasiaAbnormality of the breas HP:0100783 Breast aplasiaAbnormality of the breas HP:0003002 Breast carcinomaAbnormality of the breas HP:0010313 Breast hypertrophyAbnormality of the breas HP:0003187 Breast hypoplasiaAbnormality of the breas HP:0010619 Fibroma of the breastAbnormality of the breas HP:0100829 GalactorrheaAbnormality of the breas HP:0000771 GynecomastiaAbnormality of the breas HP:0100853 Hypoplastic areolaAbnormality of the breas HP:0002557 Hypoplastic nipplesAbnormality of the breas HP:0003186 Inverted nipplesAbnormality of the breas HP:0002562 Low-set nipplesAbnormality of the breas HP:0006625 Multifocal breast carcinomaAbnormality of the breas HP:0100013 Neoplasm of the breastAbnormality of the breas HP:0004405 Prominent nipplesAbnormality of the breas HP:0002558 Supernumerary nipplesAbnormality of the breas HP:0012813 Unilateral breast hypoplasiaAbnormality of the breas HP:0006610 Wide intermamillary distance

Abnormality of the voiceAbnormality of the voice HP:0001608 Abnormality of the voiceAbnormality of the voice HP:0010300 Abnormally low-pitched voiceAbnormality of the voice HP:0200046 Cat cryAbnormality of the voice HP:0001620 High pitched voiceAbnormality of the voice HP:0001615 Hoarse cryAbnormality of the voice HP:0001609 Hoarse voiceAbnormality of the voice HP:0001613 Hoarse voice (caused by tumor impingement)Abnormality of the voice HP:0100271 Hyponasal speechAbnormality of the voice HP:0001686 Loss of voiceAbnormality of the voice HP:0001611 Nasal speechAbnormality of the voice HP:0009088 Speech articulation difficultiesAbnormality of the voice HP:0001612 Weak cryAbnormality of the voice HP:0001621 Weak voice

NeoplasmNeoplasm HP:0006779 Alveolar rhabdomyosarcoma

Neoplasm HP:0012218 Alveolar soft part sarcomaNeoplasm HP:0010615 AngiofibromasNeoplasm HP:0200058 AngiosarcomaNeoplasm HP:0006756 Diffuse leiomyomatosisNeoplasm HP:0002898 Embryonal neoplasmNeoplasm HP:0006743 Embryonal rhabdomyosarcomaNeoplasm HP:0012254 Ewing's sarcomaNeoplasm HP:0012289 Facial neoplasmNeoplasm HP:0010614 FibromaNeoplasm HP:0100244 FibrosarcomaNeoplasm HP:0100882 Fibrous hamartomaNeoplasm HP:0012316 Fibrous tissue neoplasmNeoplasm HP:0010566 HamartomaNeoplasm HP:0012315 HistiocytomaNeoplasm HP:0100243 LeiomyosarcomaNeoplasm HP:0012032 LipomaNeoplasm HP:0012031 Lipomatous tumorNeoplasm HP:0012034 LiposarcomaNeoplasm HP:0100001 Malignant mesotheliomaNeoplasm HP:0002861 MelanomaNeoplasm HP:0200059 Metastatic angiosarcomaNeoplasm HP:0012290 Mouth neoplasmNeoplasm HP:0001012 Multiple lipomasNeoplasm HP:0012268 Myxoid liposarcomaNeoplasm HP:0002664 NeoplasmNeoplasm HP:0011793 Neoplasm by anatomical siteNeoplasm HP:0011792 Neoplasm by histologyNeoplasm HP:0200013 Neoplasm of fatty tissueNeoplasm HP:0012288 Neoplasm of head and neckNeoplasm HP:0009728 Neoplasm of striated muscleNeoplasm HP:0100606 Neoplasm of the respiratory systemNeoplasm HP:0100697 NeurofibrosarcomaNeoplasm HP:0006729 Retroperitoneal chemodectomasNeoplasm HP:0009730 RhabdomyomaNeoplasm HP:0002859 RhabdomyosarcomaNeoplasm HP:0012033 Sacral lipomaNeoplasm HP:0100242 SarcomaNeoplasm HP:0012570 Synovial sarcomaNeoplasm HP:0012291 Tracheal neoplasm

Term textual definition

`Syndactyly` (HP:0001159) with fusion of fingers one an

`Syndactyly` (HP:0001159) with fusion of toes one and t`Syndactyly` (HP:0001159) with fusion of fingers one to `Syndactyly` (HP:0001159) with fusion of toes one to thr`Syndactyly` (HP:0001159) with fusion of fingers one to `Syndactyly` (HP:0001159) with fusion of toes one to fou

`Syndactyly` (HP:0001159) with fusion of fingers one to f`Syndactyly` (HP:0001159) with fusion of toes one to five Presence of only 11 pairs of ribs.`Syndactyly` (HP:0001159) with fusion of fingers two and

`Syndactyly` (HP:0001159) with fusion of toes two and t`Syndactyly` (HP:0001159) with fusion of the fingers two A soft tissue continuity in the anteroposterior axis betwe`Syndactyly` (HP:0001159) with fusion of toes two to fou`Syndactyly` (HP:0001159) with fusion of fingers two to f`Syndactyly` (HP:0001159) with fusion of toes two to five

A soft tissue continuity in the A/P axis between fingers 4`Syndactyly` (HP:0001159) with fusion of fingers three a`Syndactyly` (HP:0001159) with fusion of toes three and `Syndactyly` (HP:0001159) with fusion of fingers three to`Syndactyly` (HP:0001159) with fusion of toes three to fi`Syndactyly` (HP:0001159) with fusion of fingers four and`Syndactyly` (HP:0001159) with fusion of toes four and f

An abnormality of the `appendicular skeletal system` (FMAA deviation from normal of the length of the arm span (lAn abnormality of the axial skeleton, which comprises theAny structural anomaly of the connective tissue bundles iAny anomaly in the formation of bone or of a bony substaAny anomaly in the composite material or the layered ar

Abnormal morphology of collagen fibers in cartilage. In ca

Any abnormality of cartilage.The presence of an `abnormal` (PATO:0000460) `curvatuAn abnormality of `compact bone` (FMA:24018) (also knoAn abnormality of the structure or form of the diaphysis, An abnormality of the process of `endochondral ossificatAn abnormality of the formation and mineralization of a

An abnormality of the formation and mineralization of an

An abnormality of the formation and mineralization of a

Any structural anomaly of the `hand` (FMA:9712).An anomaly of the process of formation of bone in the An anomaly in the process of intramembranous ossification An abnormal structure or form of the `joints` (FMA:73023)Irregularly shaped metacarpal bones of varying degree.An abnormality of the pattern of trabecula (small interc

Any abnormal process of ossification of the metatarsal bAbnormal ossification involving the femoral head and neck

Abnormal ossification (bone tissue formation) affecting

An abnormality of the dermatoglyphs, i.e., an abnormalitAn abnormality of the formation and mineralization of aAn anomaly if the process of rib bone formation.

Any anomaly in the formation of the bony substance of This term applies to all changes in bone mineral densityAn abnormality of the formation and mineralization of anAn abnormality of the structure or form of the `tendons`Abnormal structure or form of `trabecular bone` (FMA:2An abnormality of the formation and mineralization of on

Abnormality involving the epiphyses of the limbsAbnormality involving the epiphyses of the lower limbsAbnormality involving the epiphyses of the upper limbs

This term applies to all changes in bone mineral density

A morphological abnormality of a `digit` (FMA:85518), i.e.An abnormality resulting from a defect or disruption of

An anomaly of a `finger` (FMA:9666).

An abnormality in the range and ease of motion of jointsAny abnormality of bones of the arms or legs.An abnormality of size or shape of the `long bones` (FM

An anomaly of a `metacarpophalangeal joint` (FMA:3524Any abnormality of a `metatarsal bone epiphysis` (FMA:An abnormality of the `bony pelvic girdle` (FMA:61412),

Abnormalities affecting the `phalanx of finger` (FMA:239An anomaly of a `phalanx of second toe` (FMA:32899).An anomaly of the `radial diaphysis` (FMA:33782).

The bones of the skeleton undergo a series of characterisAn abnormality of the form, structure, or size of the `skAn abnormality of the function of the `skeletal system` A structural anomaly of the first metacarpal.An anomaly of the `second finger` (FMA:24946), also knoAny abnormality of the second metacarpal bone.An anomaly of the `second toe`(FMA:25048).An anomaly of the `third finger` (FMA:24947).Any abnormality of the third metacarpal bone.An anomaly of the `third toe`(FMA:25051).

Any abnormality of the fourth metacarpal bone.An anomaly of the `fourth toe` (FMA:25052).An abnormality affecting one or both 5th fingers.Any abnormality of the fifth metacarpal bone.An anomaly of the `little toe`(FMA:25053).An abnormality of the `Achilles tendon` (FMA:51061).An abnormality of the acetabulum, i.e., the `Acetabular p

An abnormality of the `calcaneus`(FMA:24496), also knowAn abnormality of the `calf` (FMA:24984), i.e. of the poste

An abnormality affecting the carpal bones of the wrist (scAny abnormality of the `cervical vertebral column` (FMAAny abnormality of the clavicles (collar bones).An abnormality of the `coccyx` (FMA:20229).Any abnormality affecting the cortex of the humerus.Any anomaly of the `costochondral junction` (FMA:7956). TThe presence of an `abnormal` (PATO:0000460) `curvat

Any abnormality of the `distal epiphysis of the femur` (Any abnormality of the distal epiphysis of the fibula.Any abnormality of the distal epiphysis of the humerus.

Any anomaly of `distal phalanx of finger` (FMA:75818).Abnormality of the distal phalanx of the 2nd fingerAbnormality of the distal phalanx of the 2nd toeAbnormality of the distal phalanx of the 3rd fingerAbnormality of the distal phalanx of the 3rd toeAbnormality of the distal phalanx of the 4th fingerAbnormality of the distal phalanx of the 4th toe

Abnormality of the distal phalanx of the 5th (little) finger.Abnormality of the distal phalanx of the 5th toe

Any anomaly of the `distal phalanx of thumb` (FMA:2394Any abnormality of the distal epiphysis of the radius.

Any abnormality of the distal epiphysis of the ulna.

An anomaly of epiphysis, which is the expanded articular Abnormality of one or all of the epiphyses of the proxima

Abnormality of one or all of the epiphyses of the proximal

Abnormality of one or all of the epiphyses of the proximal

Abnormality of one or all of the epiphyses of the proximal

Any anomal of `distal epiphysis of phalanx of finger` (F

Any abnormality of the epiphyses of the feet.

Any abnormality of the epiphyses of the phalanges or mAbnormality of the epiphyses of the middle phalanges of the hand

Abnormality of one or all of the epiphyses of the phalangAbnormality of the epiphyses of the proximal phalanges of the hand

In contrast to the metacarpals 2-5, the first metacarpal In contrast to the metatarsals 2-5, the first metatarsal iAny abnormality of the epiphysis of the second metacarAny abnormality of the epiphysis of the third metacarpalAny abnormality of the epiphysis of the 4th metacarpal Any abnormality of the epiphysis of the fifth metacarpal

Abnormality of the epiphysis of the distal phalanx of the 2nd fingerAbnormality of the epiphysis of the distal phalanx of the 2nd toeAbnormality of the epiphysis of the distal phalanx of the 3rd fingerAbnormality of the epiphysis of the distal phalanx of the 3rd toeAbnormality of the epiphysis of the distal phalanx of the 4th fingerAbnormality of the epiphysis of the distal phalanx of the 4th toe

Abnormality of the epiphysis of the distal phalanx of the Abnormality of the epiphysis of the distal phalanx of the 5th toeAbnormality of the epiphysis of the distal phalanx of the hallux

Abnormality of the epiphysis of the distal phalanx of theAny abnormality of the `proximal epiphysis of the femur

Abnormality of the epiphysis of the middle phalanx of the 2nd fingerAbnormality of the epiphysis of the middle phalanx of the 2nd toeAbnormality of the epiphysis of the middle phalanx of the 3rd fingerAbnormality of the epiphysis of the middle phalanx of the 3rd toeAbnormality of the epiphysis of the middle phalanx of the 4th fingerAbnormality of the epiphysis of the middle phalanx of the 4th toe

Abnormality of the epiphysis of the middle phalanx of the Abnormality of the epiphysis of the middle phalanx of the 5th toeAbnormality of the epiphysis of the proximal phalanx of the 2nd fingerAbnormality of the epiphysis of the proximal phalanx of the 2nd toeAbnormality of the epiphysis of the proximal phalanx of the 3rd fingerAbnormality of the epiphysis of the proximal phalanx of the 3rd toeAbnormality of the epiphysis of the proximal phalanx of the 4th finger

Abnormality of the epiphysis of the proximal phalanx of the 4th toeAbnormality of the epiphysis of the proximal phalanx of th

Abnormality of the epiphysis of the proximal phalanx of the 5th toeIn contrast to the metatarsals 2-5, the first metatarsal iThis term applies if the epiphysis of the proximal phalaAn abnormality of the `femoral head` (FMA:32851).An anomaly of the `femoral metaphysis` (FMA:32875).An abnormality of the `femoral neck` (FMA:42385) (which

Abnormality of the femoral neck and head regionAbnormality of the `femur` (FMA:9611).

An anomaly of the fifth metatarsal bone` (FMA:24506).

An anomaly of the `first metatarsal bone`(FMA:24502).An abnormality of the `skeleton of foot` (FMA:24222).An anomaly of the `musculature of foot` (FMA:50214).An abnormality of the lower arm.An anomaly of the `glenoid fossa` (FMA:23275), also knowAn abnormality of the sacrosciatic notch, i.e., the deep iThis term applies for all abnormalities of the big toe, also

An abnormality affecting one or both hands.An abnormality of the `hip bone` (FMA:16585).An abnormality of the `hip joint` (FMA:35178).An anomaly of the `humeral diaphysis` (FMA:13305).

An anomaly of the `humeral epiphysis` (FMA:32825).

An abnormality of the humerus (i.e., upper arm bone).An abnormality of the `hypothenar eminence`(FMA:61523), i.An abnormality of the `ilium` (FMA:16589), the largest aAn abnormality of the `intervertebral disk` (FMA:10446).An anomaly of the `ischium` (FMA:16592), which forms t

An abnormality of the knee joint or surrounding structureAn abnormality of the `leg` (FMA:24979).An abnormality of the `lumbar vertebral column` (FMA:1

An abnormality of the medullary cavity (medulla, innermoAn abnormality of the `metacarpal bones`(FMA:71336).An abnormality of one or more metaphysis, i.e., of the sAbnormalities of the `metatarsal bones` (FMA:24492) (i.eAn anomaly of `middle phalanx of finger` (FMA:75817).

Abnormality of the middle phalanges of the toesAbnormality of the middle phalanx of the 2nd finger

Abnormality of the middle phalanx of the 2nd toeAbnormality of the middle phalanx of the 3rd fingerAbnormality of the middle phalanx of the 3rd toeAbnormality of the middle phalanx of the 4th fingerAbnormality of the middle phalanx of the 4th toeAbnormality of the middle phalanx of the 5th fingerAbnormality of the middle phalanx of the 5th toe

Abnormality of the musculature of the lower limbs

Abnormality of the musculature of the upper armAbnormality of the musculature of the upper limbs

Abnormality of the `dens of the axis` (FMA:24043), whic

An abnormality of the `palm`(FMA:24920), that is, of the An abnormality of the creases of the `skin of palm of hAbnormality of the patella (knee cap).Abnormality of the phalanges of the 2nd (index) finger.Abnormality of the phalanges of the 3rd (middle) finger.

Abnormality of the phalanges of the 4th (ring) finger.

Abnormality of the phalanges of the 5th (little) finger.

Any abnormality of the proximal epiphysis of the fibula.Any abnormality of the proximal epiphysis of the humeru

Abnormality of the proximal phalanges of the handAbnormality of the proximal phalanx of the 2nd fingerAbnormality of the proximal phalanx of the 2nd toeAbnormality of the proximal phalanx of the 3rd finger

An anomaly of the `proximal phalanx of third toe` (FMA:Abnormality of the proximal phalanx of the 4th fingerAbnormality of the proximal phalanx of the 4th toe

Abnormality of the proximal phalanx of the little (5th) fingAbnormality of the proximal phalanx of the 5th toe

In contrast to the proximal phalanges of the digits 2-5, tIn contrast to the proximal phalanges of the digits 2-5, Any abnormality of the proximal epiphysis of the radius.Any abnormality of the proximal epiphysis of the tibia.Any abnormality of the proximal epiphysis of the ulna.

An abnormality of the `radius` (FMA:23463).A morphological anomaly of the `rib cage` (FMA:7480).An anomaly of the `rib` (FMA:7574).

An anomaly of the `sacroiliac joint` (FMA:21440).An abnormality of the `sacral bone` (FMA:16202).

Any abnormality of the `scapula` (FMA:13394), also knoAn abnormality of the shoulder, which is defined as the

Abnormality of the shoulder girdle musculatureAn abnormality of the `skeletal system` (FMA:23881).An anomaly of the `sternum` (FMA:7485), also known as

An abnormality of the `talus` (FMA:9708).An abnormality of the tarsus are the cluster of seven bonAn abnormality of the thenar eminence, i.e., of the musAn abnormality of the `third metatarsal bone` (FMA:2450An abnormality of the `thoracic vertebral column` (FMA:Any abnormality of the thorax (the region of the body foAn anomaly of the `thumb`(FMA:24938).Abnormality of the tibia (shinbone).

An anomaly of `trapezium` (FMA:23721).

Ab abnormality of the ulna bone of the forearm.

An abnormality of the `arm` (FMA:24890).An abnormality of one or more of the `vertebrae` (FMA:Any abnormality of the `vertebral column` (FMA:13478).Any abnormality of the vertebral end plates, which are th

Abnormality of the vertebral spinous processesAn anomaly of the `ilium ala` (FMA:42826). This is the laAbnormality of the wrist, the structure connecting the hAn abnormality of the `xiphoid process` (FMA:7488) of tAbnormality of one or all of the epiphyses of the proximA structural anomaly of one or more phalanges of the t

An anomaly of a `toe` (FMA:25046).A morphological anomaly of one or more proximal phala

An anomaly of one or more metaphyses of the arms.

The absence of the normal `curvature` (PATO:0001591) Absence (aplasia) of the sacrum.Absence of the distal interphalangeal flexion creases of tAplasia (absence) of the distal phalanges.Absence of `distal phalanx of the second toe` (FMA:3262Developmental aplasia of the `distal phalanx of third to

Absent dorsal skin creases over affected joints

Absence of the epiphyses of the 2nd finger.

Absence of the epiphyses of the 3rd finger.

Absence of one or more epiphyses of the 4th finger.

Absence of one or more epiphyses of the 5th finger.

Absent epiphyses of the distal phalanges of the handAbsent epiphyses of the middle phalanges of the hand

Absence of one or more epiphyses of the phalanges fingAbsent epiphyses of the proximal phalanges of the hand

Absence of one or more epiphyses of the thumb.Absence of the epiphyses of the phalanges of the toes.

Failure to form (agenesis) of the epiphysis of the 1st metAbsence of the epiphysis located at the proximal end of t

Absent epiphysis of the distal phalanx of the 2nd toeAbsence of the epiphysis located at the proximal end of t

Absent epiphysis of the distal phalanx of the 3rd toeAbsence of the epiphysis located at the proximal end of t

Absent epiphysis of the distal phalanx of the 4th toeAbsence of the epiphysis located at the proximal end of t

Absent epiphysis of the distal phalanx of the 5th toeFailure to form (agenesis) of the epiphysis of the distal pAbsence of the epiphysis located at the proximal end of

Absent epiphysis of the middle phalanx of the 2nd fingerAbsent epiphysis of the middle phalanx of the 2nd toe

Absence of the epiphysis located at the proximal end of Absent epiphysis of the middle phalanx of the 3rd toe

Absence of the epiphysis located at the proximal end of tAbsent epiphysis of the middle phalanx of the 4th toe

Absence of the epiphysis located at the proximal end of tAbsent epiphysis of the middle phalanx of the 5th toeAbsent epiphysis of the proximal phalanx of the 2nd fingerAbsent epiphysis of the proximal phalanx of the 2nd toe

Absence of the epiphysis located at the proximal end of tAbsent epiphysis of the proximal phalanx of the 3rd toe

Absence of the epiphysis located at the proximal end of tAbsent epiphysis of the proximal phalanx of the 4th toe

Absence of the epiphysis located at the proximal end of tAbsent epiphysis of the proximal phalanx of the 5th toe

Failure to form (agenesis) of the epiphysis of the proximaAbsence of the epiphysis located at the proximal end of tA developmental abnormality characterized by the absenA developmental defect characterized by the absence of The total absence of the foot, with no bony elements distal

Absence of one or more forearm bones associated with cAbsence of the distal interphalangeal flexion creases of t

Lack of development of the `glenoid fossa` (FMA:23275), Aplasia of the hallux, that is, a development defect suchFailure to form (agenesis) of one or more epiphyses of thThe total absence of the hand, with no bony elements distLack of formation of bone in the epiphysis of the humeruMissing humerus bone associated with congenital failur

Lack of formation and mineralization of the ribs in utero.

Absence of the epiphyses of the metacarpal bones, whichA developmental abnormality characterized by the absenAbsence of the middle phalanx of the index (2nd) finger.Absence of the middle phalanx of the middle (3rd) fingerAbsence of the middle phalanx of the ring (4th) finger.Absence of the middle phalanx of the little (5th) finger.Developmental aplasia of the `middle phalanx of third t

Lack of ossification of the `proximal epiphysis of the fA lack of `bone mineralization` (GO:0030282) of one or A lack of `bone mineralization` (GO:0030282) of one or The absence of the major creases of the palm (distal traAbsence of one or more interphalangeal creases (i.e., of

Absence of the proximal interphalangeal flexion creases Absence of `proximal phalanx of third toe` (FMA:32619),Absence of the proximal phalanx of the thumb. In contrastAbsence of the proximal radial epiphysis.Missing radius bone associated with congenital failure oCongenital absence of the `scaphoid` (FMA:23709)..

Absent spinous processes of lower thoracic and lumbar vertebraeLack of formation of mineralized bony tissue of the sterAbsent `thumb`(FMA:24938), i.e., the absence of both pAbsence of the tibia.Aplasia of a `toe` (FMA:25046). That is, absence of all ph

Absent trapezium/absent ossification of the trapezium

Missing ulna bone associated with congenital failure of

A lack of `bone mineralization` (GO:0030282) of the `ve

An abnormally increased rate of skeletal maturation. AcThe presence of more than the normal number of carpal

The presence of `developmental dysplasia` (MPATH:64) oThe presence of osteophytes (bone spurs), i.e., of bony A contracture of the `Achilles tendon` (FMA:51061).Ulceration and osteomyelitis of the distal parts of the l

Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet)

Acral ulceration leading to autoamputation of digitsShortening of the extremities affecting primarily the distaShortening of the legs predominantly affecting terminal pShortening of the arms predominantly affecting terminal

The absence of all phalanges of all the digits of a limb aIn the resting position, the tip of the thumb is on, or near

Ossification of carpal bones at an abnormally early age.Ossification of hand bones at an earlier age than normalOssification of the `humeral epiphysis` (FMA:32825) at aPrecocious (accelerated) maturation and calcification ofCongenital absence (aplasia) of one or more limbs.`Amelia` (HP:0009827) of one or both legs.`Amelia` (HP:0009827) of one or both upper limbs.Amniotic constriction rings affecting the arms.Amniotic constriction rings affecting the legs.

Amyotrophy involving the shoulder musculatureAtrophy of the muscles of the ankle.Radiographic features include a dilated, radiolucent lesi

Abnormally increased variability of the size of the vertebA chronic loss of ankle joint motion due to structural ch

A structural abnormality of a diaphysis of the leg.A structural abnormality of a diaphysis of the arm or leg.A structural abnormality of a diaphysis of the arm.Pterygium affecting the elbow. This is a cutaneous web th

Anterior tongue-like protrusions of the lower thoracic verAnterior tongue-like protrusions of the vertebral bodies oAnterior tongue-like protrusions of thoracic vertebral bodAn abnormal anterior curvature of a `long bone` (FMA:7Anterior schisis (cleft or cleavage) of vertebral bodies.

A dislocation of the head of the radius from its socket in Wide, concave anterior rib end.Deposition of calcium salts in point-like foci within the an

An excessive concavity of the anterior surface of one orAn abnormal anterior bending or curvature of the `tibia`

An abnormality of the shape of the thoracic vertebra T11An abnormality of the shape of the lumbar vertebra L1 su

An abnormality of the shape of the lumbar vertebra L2 suAn abnormality of the shape of the thoracic vertebra T12`Anterior mislocalization` (PATO:0001921) of the `dens A dislocation of the head of the radius from its socket in `Calcification` (PATO:0001447), that is, pathological depDeposition of calcium salts in the aortic valve.

Absence of a digit or of one or more phalanges of a finge

Developmental defect associated with absence of one oIn contrast to the proximal phalanges of the digits 2-5, Absent 2nd (index) finger.

Absent 3rd finger.

Absent 4th finger.

Absent 5th (little) finger.

Absence of the distal phalanges of the toes.

Absence of the distal phalanx of the middle (3rd) finger.Absence of the distal phalanx of the ring (4th) finger.

Absence of the distal phalanx of the little (5th) finger.

Absence of the distal/terminal phalanx of the thumb.

Aplasia of one or more fingers.

Absence of one or more middle phalanx of a finger.Absence of the pectoralis major muscle.

Absence of one or more of the phalanges of the hand.Absence of a digit or of one or more phalanges of a toe.

Absence of the proximal phalanx of the 2nd finger.

Absence of the proximal phalanx of the 3rd finger.Absence of the proximal phalanx of the ring (4th) finger.

Absence of the proximal phalanx of the little (5th) finger.

Absence of the tarsal bones.

Aplasia/Hypoplasia involving bones of the thoraxAbsence or underdevelopment of the carpal bones.

Aplasia/Hypoplasia involving the femoral head and neckAplasia or Hypoplasia affecting the metacarpal bones.

Aplasia/Hypoplasia involving the musculature of the extremitiesAbsence or underdevelopment of the muscles of the uppAbsence or underdevelopment of the musculature of the

Absence or underdevelopment of the muscles of the shoAplasia/Hypoplasia involving the vertebral column

Small/hypoplastic or absent/aplastic fingers.Absence or underdevelopment of the metatarsal bones.Aplasia or Hypoplasia affecting the 1st metacarpal. In coA small/hypoplastic or absent/aplastic 2nd finger.Aplasia or Hypoplasia affecting the 2nd metacarpal.

A small/hypoplastic or absent/aplastic 3rd (middle) fingerAplasia or Hypoplasia affecting the 3rd metacarpal.

A small/hypoplastic or absent/aplastic 4th (ring) finger.Aplasia or Hypoplasia affecting the 4th metacarpal.

A small/hypoplastic or absent/aplastic 5th finger.Aplasia or Hypoplasia affecting the 5th metacarpal.

Absence or underdevelopment of the biceps muscle.Absence or underdevelopment of the `proximal epiphysi`Aplasia` (MPATH:58) or developmental hypoplasia of thAbsence or underdevelopment of the clavicles (collar boAbsence or underdevelopment of the distal phalanges.Absence or underdevelopment of the distal phalanges of

Aplasia/Hypoplasia of the distal phalanx of the 2nd fingerAplasia/Hypoplasia of the distal phalanx of the 2nd toeAplasia/Hypoplasia of the distal phalanx of the 3rd fingerAplasia/Hypoplasia of the distal phalanx of the 3rd toeAplasia/Hypoplasia of the distal phalanx of the 4th fingerAplasia/Hypoplasia of the distal phalanx of the 4th toeAplasia/Hypoplasia of the distal phalanx of the 5th fingerAplasia/Hypoplasia of the distal phalanx of the 5th toeAplasia/Hypoplasia of the distal phalanx of the hallux

Aplasia/Hypoplasia of the distal phalanx of the thumbAbsence or underdevelopment of the fibula.Absence or underdevelopment of the big toe.

Aplasia/Hypoplasia of the middle phalanges of the handAplasia/Hypoplasia of the middle phalanges of the toesAplasia/Hypoplasia of the middle phalanx of the 2nd fingerAplasia/Hypoplasia of the middle phalanx of the 2nd toeAplasia/Hypoplasia of the middle phalanx of the 3rd fingerAplasia/Hypoplasia of the middle phalanx of the 3rd toeAplasia/Hypoplasia of the middle phalanx of the 4th fingerAplasia/Hypoplasia of the middle phalanx of the 4th toe

Absence or underdevelopment (hypoplasia) of the middle phAplasia/Hypoplasia of the middle phalanx of the 5th toe

Absence or underdevelopment involving the musculature Absence or underdevelopment of the palmar creases.Absence or underdevelopment of the patella.

Aplasia/Hypoplasia of the phalanges of the 2nd fingerAplasia/Hypoplasia of the phalanges of the 2nd toeAplasia/Hypoplasia of the phalanges of the 3rd fingerAplasia/Hypoplasia of the phalanges of the 3rd toeAplasia/Hypoplasia of the phalanges of the 4th fingerAplasia/Hypoplasia of the phalanges of the 4th toe

Aplasia/Hypoplasia of the phalanges of the 5th finger.Aplasia/Hypoplasia of the phalanges of the 5th toeAplasia/Hypoplasia of the phalanges of the hallux

Small or missing phalangeal bones of the fingers of the Aplasia/Hypoplasia of the phalanges of the thumbAplasia/Hypoplasia of the phalanges of the toesAplasia/Hypoplasia of the proximal phalanges of the handAplasia/Hypoplasia of the proximal phalanx of the 2nd fingerAplasia/Hypoplasia of the proximal phalanx of the 3rd fingerAplasia/Hypoplasia of the proximal phalanx of the 4th finger

Absence or underdevelopment (hypoplasia) of the proximal Aplasia/Hypoplasia of the proximal phalanx of the hallux

This term applies if the proximal phalanx of the thumb isAbsence or underdevelopment of the pubic bone.Absence or underdevelopment of the quadriceps muscleA small/hypoplastic or absent/aplastic radius.

`Aplasia` (MPATH:58) or developmental hypoplasia of t

Absence or underdevelopment of the tarsal bones.Hypoplastic/small or absent `thumb`(FMA:24938).Absence or underdevelopment of the tibia.Absence or underdevelopment of the triceps muscle.Absence or underdevelopment of the ulna.

Absence or hypoplasia of toes.Absence (due to failure to form) or underdevelopment of

Absence (due to failure to form) or underdevelopment ofAbsence (due to failure to form) or underdevelopment of Absence (due to failure to form) or underdevelopment ofAbsence (due to failure to form) or underdevelopment oAbsence (due to failure to form) or underdevelopment oAbsence (agenesis) or underdevelopment of one or more Absence or underdevelopment of the `first metatarsal Absence (due to failure to form) or underdevelopment of Absence or underdevelopment of the `femur` (FMA:9611Absence (due to failure to form) or underdevelopment oAbsence (agenesis) or underdevelopment of one or more Absence (agenesis) or underdevelopment of one or more Absence (agenesis) or underdevelopment of one or more Absence (agenesis) or underdevelopment of one or more Absence of the clavicles as a developmental defect.

Abnormally long and slender fingers ("spider fingers").Pathological deposition of calcium salts in one or more aJoint pain.Joint pain affecting the hip.Inflammation of a joint.A non-progressive finding characterized by multiple joint

A disease where there is cellular death (necrosis) of boThe congenital absence of the sternum.The presence of `asymmetric` (PATO:0000616) `develop

Lack of symmetry between the left and right halves of th

Partial dislocation of the atlantoaxial joint.

Spontaneous detachment (amputation) of an appendage

Avascular necrosis of the `proximal epiphysis of the femu

The presence of a row of beadlike prominences at the juncAnterior tongue-like protrusions of the vertebral bodies.

The rib cage has the shape of a wide mouthed bell. That iAbsence of the biceps muscle.

Exaggerated concavity of the anterior or posterior surfacPresence of abnormal convexity of the upper and lower enPartial duplication of the distal phalanx of the thumb.

A bifid or bifurcated appearance of the `femur` (FMA:961

Partial duplication of the `first metacarpal bone` (FMA:2Clefting affecting the humerus.This term applies if the proximal phalanx of the thumb isA bifid rib refers to cleavage of the sternal end of a rib,Presence of a `bifid` (PATO:0001572) `sacral bone` (FThe sternal cleft is a rare congenital anomaly resulting f

Cleft (split into two parts) `distal phalanx of thumb` (FMA cleft of the `xiphoid process` (FMA:7488) of the stern

The presence of bilateral `coxa_valga` (HP:0002673).

Missing radius bone on both sides associated with congenThe distal and proximal transverse palmar creases are Bilateral clubfoot deformity (see HP:0001762).A bilateral form of `triphalangeal thumb` (HP:0001199).Underdevelopment of the ulna on both sides.A chronic loss of wrist joint motion on the right and left sA two-part `calcaneus`(FMA:24496), a finding that probabA developmental defect that occurs if the two halves of theCongenital synostosis between two or more adjacent verA fluid filled cavity that develops with a bone.

The bone-in-bone sign is a radiographic finding produced

Bony swelling of the proximal interphalangeal joint (PIP) aA bending or abnormal curvature affecting either the `rA bending or abnormal curvature of the `humerus` (FMACurvature of the shafts of the long bones due to multipleA bending or abnormal curvature affecting a `long boneA bending or abnormal curvature affecting a `long bone`A bending or abnormal curvature of a `long bone` (FMA:Digits that appear disproportionately short compared to Disproportionately short middle and distal phalanges co

Bracket epiphysis refers to an abnormality in which the

Bracket epiphysis refers to an abnormality in which the

Bracket epiphysis refers to an abnormality in which the

Bracket epiphysis refers to an abnormality in which the

Bracket epiphyses of the distal phalanges of the hand

Bracket epiphyses of the middle phalanges of the handBracket epiphysis refers to an abnormality in which the

Bracket epiphyses of the proximal phalanges of the hand

Bracket epiphysis refers to an abnormality in which the

An epiphysis that curves around from its transverse orienThe epiphysis of the 1st metatarsal surrounds the diaphyThe epiphysis is normally located on the proximal surfac

Bracket epiphysis of the distal phalanx of the 2nd toeThe epiphysis is normally located on the proximal surfac

Bracket epiphysis of the distal phalanx of the 3rd toeThe epiphysis is normally located on the proximal surfac

Bracket epiphysis of the distal phalanx of the 4th toeThe epiphysis is normally located on the proximal surfac

Bracket epiphysis of the distal phalanx of the 5th toeThe epiphysis of the distal phalanx of the hallux surrounThe epiphysis is normally located on the proximal surfac

Bracket epiphysis of the middle phalanx of the 2nd fingerBracket epiphysis of the middle phalanx of the 2nd toe

The epiphysis is normally located on the proximal surfacBracket epiphysis of the middle phalanx of the 3rd toe

The epiphysis is normally located on the proximal surfacBracket epiphysis of the middle phalanx of the 4th toe

The epiphysis is normally located on the proximal surfacBracket epiphysis of the middle phalanx of the 5th toeBracket epiphysis of the proximal phalanx of the 2nd fingerBracket epiphysis of the proximal phalanx of the 2nd toe

The epiphysis is normally located on the proximal surfacBracket epiphysis of the proximal phalanx of the 3rd toe

The epiphysis is normally located on the proximal surfacBracket epiphysis of the proximal phalanx of the 4th toe

The epiphysis is normally located on the proximal surfacBracket epiphysis of the proximal phalanx of the 5th toe

The epiphysis of the proximal phalanx of the hallux surrThe epiphysis is normally located on the proximal surfac

A crease that connects the proximal and distal transverIncreased width of the 1st metacarapal. In contrast to thA broad appearance of the second toe.A broad appearance of the `third toe`(FMA:25051).A broad appearance of the fourth toe.A broad appearance of the fifth toe.

Increased width (cross-sectional diameter) of the clavicl

Abnormally wide (broad) `distal phalanx of finger` (FMA:7Abnormally wide (broad) `distal phalanx of finger` (FMAIncreased width of the distal phalanx of the 2nd finger.

Increased width of the distal phalanx of the 3rd finger.

Increased width of the distal phalanx of the 4th finger.

Increased width of the distal phalanx of the 5th finger.

An increase in width of the distal phalanx of the big toe.Increased width of the `distal phalanx of thumb` (FMA:2Increased width of the `distal phalanx of toe` (FMA:7583Increased width of the `femoral head` (FMA:32851).

An abnormally wide femoral neck (which is the process oIncreased width of a non-thumb digit of the hand.Increased width of the distal segment of a finger.Increased side-to-side width of the `first metatarsal boA foot for which the measured width is above the 95th centAbnormally wide bone of the `skeleton of forearm` (FMAVisible increase in width of the hallux without an increasAn increase in width in one or more phalanges of the bigIncreased width of the humeral epiphyseal growth plate.Increased width of the `humeral epiphysis` (FMA:32825)Increased width of the `ischium` (FMA:16592), which forIncreased width of the diaphysis of long bones.Increased cross-section (diameter) of the long bones. NoIncreased side-to-side width of the metacarpal epiphyseAbnormally broad metacarpal bones.Increased side-to-side width of a metatarsal bone.

Increased width of the `middle phalanx of finger` (FMA:Increased width of the `middle phalanx of the second fi

Increased width of the middle phalanx of the 3rd finger.

Increased width of the middle phalanx of the 4th finger.

Increased width of the middle phalanx of the 5th finger.

For children from birth to 4 years of age the palm width

Increased width of the phalanges of the 3rd finger.

Increased width of the phalanges of the 4th finger.

Increased width of the phalanges of the 5th finger.

Increased width of the phalanges of the hand.Increased side-to-side width of one or more phalanges ofIncreased width of `phalanx of toe` (FMA:24493) of one Increased width of the proximal phalanges of the finger.Increased width of the proximal phalanx of the 2nd finge

Increased width of the proximal phalanx of the 3rd finger

Increased width of the proximal phalanx of the 4th finger

Increased width of the proximal phalanx of the 5th finger

Increased width of `proximal phalanx of big toe` (FMA:Increased width of the proximal phalanx of the thumb. In An increase in width of one ore more proximal toe phalaIncrease in width of the `diaphysis of radius` (FMA:3378Abnormal increase in width of the epiphyseal growth platIncrease in width (breadth) of the `radial metaphysis` (Increased width of the `radius` (FMA:23463).Increased width of ribs.Increased thumb width without increased dorso-ventral

Visible increase in width of the non-hallux digit without Increased width of the `ulna` (FMA:23466).Increased side-to-side width of the `xiphoid process` (An abnormality of the morphology of the toes, such that A morphological abnormality of epiphyses whereby they Abnormal outward curving (protuberance) of the junction oThe presence of short and wide 1st metacarpal which tapeAn abnormal morphology of the firstmetatarsal bone, whicAn abnormal morphology of one or more phalanges of the An abnormal morphology of one or more phalanges of the tAn abnormal morphology of one or more phalanges of the fAn abnormal morphology of one or more phalanges of the f

Bullet-shaped phalanx refers to a short and wide phalanx tAn abnormal morphology of the distal phalanx of the secoBullet-shaped phalanx refers to a short and wide phalanx tAn abnormal morphology of the distal phalanx of the thirdBullet-shaped phalanx refers to a short and wide phalanx tAn abnormal morphology of the distal phalanx of the fourBullet-shaped phalanx refers to a short and wide phalanx tAn abnormal morphology of the distal phalanx of the fifthAn abnormal morphology of the distal phalanx of the big Bullet-shaped phalanx refers to a short and wide phalanx An abnormal morphology of one or more distal phalanges oAn abnormal morphology of one or more phalanges of the bBullet-shaped phalanx refers to a short and wide phalanxBullet-shaped phalanx refers to a short and wide phalanx An abnormal morphology of the middle phalanx of the secoBullet-shaped phalanx refers to a short and wide phalanx An abnormal morphology of the middle phalanx of the thirBullet-shaped phalanx refers to a short and wide phalanx An abnormal morphology of the middle phalanx of the fourBullet-shaped phalanx refers to a short and wide phalanx An abnormal morphology of the middle phalanx of the fiftAn abnormal morphology of one or more middle phalanges

Bullet-shaped phalanges refers to short and wide phalangBullet-shaped phalanges refers to short and wide phalangBullet-shaped phalanges refers to short and wide phalangThe presence of short and wide phalanges which taper dis

Bullet-shaped phalanx refers to a short and wide phalanx An abnormal morphology of the proximal phalanx of the 2nBullet-shaped phalanx refers to a short and wide phalanx An abnormal morphology of the proximal phalanx of the thBullet-shaped phalanx refers to a short and wide phalanx An abnormal morphology of the proximal phalanx of the foBullet-shaped phalanx refers to a short and wide phalanx An abnormal morphology of the proximal phalanx of the fiAn abnormal morphology of the proximal phalanx of the biBullet-shaped phalanx refers to a short and wide phalanx An abnormal morphology of one or more of the proximal phAn abnormal morphology of one or more phalanges of the An abnormal morphology of one or more phalanges of the In the orthopedic and radiological literature, sagittally clButterfly vertebrae have a cleft through the body of theA `partial dislocation` (PATO:0002157) of the `atlantoaxiAny abnormality of the `atlas` (FMA:12519) and the `axA `partial dislocation` (PATO:0002157) of the `intervertThe presence of abnormal punctate (speckled, dot-like) cSynostosis of the `calcaneus` (FMA:24496) with the `naThis is a postural deformity in which the foot is positionAbnormal narrowing of the orifice of the mitral valve becauAn abnormal punctate (speckled, dot-like) pattern of calc

Calcific stippling of infantile cartilaginous skeleton

Deposition of calcium salts in muscle tissue.`Calcification` (PATO:0001447), that is, pathological depMuscle hypertrophy affecting the calf muscles.Underdevelopment of the muscuklature of the calf.Enlargement of the muscles of the calf due to their replaAn increase in bone density affecting the calvaria (roof ofAn abnormal forward-flexed posture e.g. forward flexion The distal interphalangeal joint and/or the proximal inteThe distal interphalangeal joint and/or the proximal inteThe distal interphalangeal joint and/or the proximal inteCamptodactyly is a painless flexion contracture of the pr

Abnormal calcification of a `cardiac valve` (FMA:7110).Abnormal calcification in the `cardiovascular system` (Congenital absence of a carpal bone.Underdevelopment of one or more `carpal bones` (FMA

Osteolysis affecting carpal bones.Synostosis (bony fusion) involving one or more bones of

Fusion involving carpal and metacarpal bones.

The presence of a tail-like skin appendage located adjacNarrowing (becoming gradually narrower) of the distanceCongenital protrusion of the abdominal or thoracic viscerA central Y-shaped metacarpal is the result of a partial

Exaggerated convexity of the cervical vertebral column,A flattened vertebral body shape with reduced distance bA supernumerary rib developing from an abnormal enlargAn abnormal narrowing of the cervical spinal canal.

An abnormal lack of stability of the cervical spine.The presence of `arthrosis` (MPATH:27), i.e., of degenerA `partial dislocation` (PATO:0002157) of one or more intFusion of the C5 and C6 cervical vertebrae.`Agenesis` (MPATH:57) of one or more vertebrae of the

Cervical vertebral bodies with decreased anteroposterior diameter`Dysplasia` (MPATH:589) of the `cervical vertebral col

Fusion of cervical vertebrae at C2 and C3, caused by a faA morphological abnormality of distal phalanges such t

Chevron-shaped/cone-shaped radial epiphyses

Chilblains are acral ulcers.A type of `disproportionate short stature` (HP:0003498) Inflammation of cartilage.Radiographic evidence of articular calcification that repA slowly growing malignant neoplasm derived from cartilA chordoma is a tumors that arises from embryonic remnan

An increase in bone density within the clavicle.A discontinuity of the vertebral arch (FMA:11946), i.e., ofClinodactyly refers to a bending or curvature of the `fifth

Broadening of the soft tissues (non-edematous swelling of Terminal broadening of the fingers (distal phalanges of tTerminal broadening of the toes (distal phalanges of the

An abnormal morphology of the ribs consisting of shorted

A scoliosis which is the results of a difference in leg leComplete duplication of the distal phalanx of the thumb.Complete duplication of one or more `phalanx of big toA complete duplication affecting one or more of the phal

Complete duplication of the proximal phalanx of the thumbA developmental defect consisting in the complete duplicaA complete duplication affecting one or more of the distComplete duplication of the `distal phalanx of index finComplete duplication of the `distal phalanx of second tComplete duplication of the `distal phalanx of middle fiComplete duplication of `distal phalanx of third toe` (FComplete duplication of the `distal phalanx of ring fingeComplete duplication of the `distal phalanx of fourth toComplete duplication of the `distal phalanx of little fingComplete duplication of the `distal phalanx of little toe`

Complete duplication of the distal phalanx of the halluxComplete duplication of the `first metacarpal bone` (FMA complete duplication affecting one or more of the middComplete duplication of the `middle phalanx of index fiComplete duplication of `middle phalanx of second toe`Complete duplication of the `middle phalanx of middle fComplete duplication of `middle phalanx of third toe` (Complete duplication of the `middle phalanx of ring fingComplete duplication of `middle phalanx of fourth toe` Complete duplication of the `fifth middle phalanx of haComplete duplication of the middle phalanx of the 5th toA complete duplication affecting one or more of the phalComplete duplication of a `phalanx of second toe` (FMAA complete duplication affecting one or more of the phalA complete duplication affecting one or more of the phalA complete duplication affecting one or more of the phalA complete duplication affecting one or more of the proxComplete duplication of the `Second proximal phalanx Complete duplication of `proximal phalanx of second toComplete duplication of the `third proximal phalanx of Partial or complete duplication of `proximal phalanx of tComplete duplication of the `fourth proximal phalanx of

Complete duplication of the proximal phalanx of the 4th toeComplete duplication of the `fifth proximal phalanx of hComplete duplication of the `proximal phalanx of fifth tComplete duplication of the `proximal phalanx of big toA complete duplication affecting one or more of the phal

A cone-shaped deformity of the `proximal epiphysis of Cone-shaped epiphyses fused within their metaphyses

A cone-shaped appearance of the epiphyses of the 2nd fi

A cone-shaped appearance of the epiphyses of the 3rd fin

A cone-shaped appearance of the epiphyses of the 4th fin

A cone-shaped appearance of the epiphyses of the 5th fin

Cone-shaped epiphyses of the distal phalanges of the hand

Cone-shaped epiphyses of the middle phalanges of the handA cone-shaped appearance of the epiphyses of the finger

Cone-shaped epiphyses of the proximal phalanges of the hand

Cone-shaped epiphyses (also known as coned epiphyses) arA cone-shaped appearance of the epiphysis of the 1st meA conical (cone-shaped) appearance of the epiphysis of thA cone-shaped appearance of the epiphysis of the distal

Cone-shaped epiphysis of the distal phalanx of the 2nd toeA cone-shaped appearance of the epiphysis of the distal

Cone-shaped epiphysis of the distal phalanx of the 3rd toeA cone-shaped appearance of the epiphysis of the distal p

Cone-shaped epiphysis of the distal phalanx of the 4th toeA cone-shaped appearance of the epiphysis of the distal p

Cone-shaped epiphysis of the distal phalanx of the 5th toeCone-shaped epiphysis of the distal phalanx of the hallux

A cone-shaped appearance of the epiphysis of the distal Cone-shaped epiphysis of the middle phalanx of the 2nd fingerCone-shaped epiphysis of the middle phalanx of the 2nd toe

A cone-shaped appearance of the epiphysis of the middle Cone-shaped epiphysis of the middle phalanx of the 3rd toe

A cone-shaped appearance of the epiphysis of the middle Cone-shaped epiphysis of the middle phalanx of the 4th toe

A cone-shaped appearance of the epiphysis of the middle pCone-shaped epiphysis of the middle phalanx of the 5th toeCone-shaped epiphysis of the proximal phalanx of the 2nd fingerCone-shaped epiphysis of the proximal phalanx of the 2nd toe

A cone-shaped appearance of the epiphysis of the proximaCone-shaped epiphysis of the proximal phalanx of the 3rd toe

A cone-shaped appearance of the epiphysis of the proximaCone-shaped epiphysis of the proximal phalanx of the 4th toe

A cone-shaped appearance of the epiphysis of the proximalCone-shaped epiphysis of the proximal phalanx of the 5th toeCone-shaped epiphysis of the proximal phalanx of the hallux

A cone-shaped appearance of the epiphysis of the middle pA cone-shaped appearance of the epiphyses of the thumb,A cone-shaped appearance of the epiphyses of the metaca

One or more flexion contractures (a bent joint that cannotMultiple bent (flexed) finger joints that cannot be straigh

The two portions of the clavicle (corresponding to the tw

Congenital symmetrical palmoplantar keratosis

Chronic loss of joint motion of the distal interphalangealThe distal interphalangeal joint of the 2nd toe cannot be Chronic loss of joint motion of the distal interphalangeal The distal interphalangeal joint of the 3rd toe cannot be Chronic loss of joint motion of the distal interphalangeal The distal interphalangeal joint of the 4th toe cannot be Chronic loss of joint motion of the distal interphalangeal Chronic loss of joint motion in one or more distal interphaThe interphalangeal joint of the big toe cannot be straighChronic loss of joint motion of the metacarpophalangeal jChronic loss of joint motion of the metacarpophalangeal jChronic loss of joint motion of the metacarpophalangeal jChronic loss of joint motion of the metacarpophalangeal jThe joint between the second metatarsal and the proximalThe joint between the second metatarsal and the proximalThe joint between the second metatarsal and the proximalThe joint between the second metatarsal and the proximalChronic loss of joint motion of the proximal interphalangeThe proximal interphalangeal joint of the 2nd toe cannot Chronic loss of joint motion of the proximal interphalangeThe proximal interphalangeal joint of the 3rd toe cannot Chronic loss of joint motion of the proximal interphalangeThe proximal interphalangeal joint of the 4th toe cannot Proximal interphalangeal (PIP) flexion deformity of the litChronic loss of joint motion in the tarsometatarsal joint o

Chronic loss of joint motion of the carpometacarpal jointThe distal interphalangeal joint of the 5th toe cannot be Chronic loss of joint motion of the interphalangeal joint o

Chronic loss of joint motion of the metacarpophalangeal jThe joint between the first metatarsal and the proximal phThe proximal interphalangeal joint of the fifth toe cannot

Frontal schisis (cleft or cleavage) of vertebral bodies.`Calcification` (PATO:0001447), that is, pathological dep

Cortical diaphyseal irregularity of the upper limbsCortical diaphyseal thickening of the upper limbs

An abnormal irregularity of cortical bone.

An abnormal irregularity of the cortical surface of the diSclerosis (abnormal hardening) of cortical bone, charact

Cortical subperiosteal resorption (humeral metaphyses)

Abnormal thickening of the cortex of the diaphyseal regi

Increased density of the `compact bone of long bone` (Calcification of the costal cartilages, which are bars of hAbnormal increase in density of the tissue at the costochChest wall pain in the area of the costochondral junctionWidening of the femoral head and neck.Coxa valga is a deformity of the hip in which the angleCoxa vara includes all forms of decrease of the femoral Abnormally increased density of craniofacial bone tissue

An crumpled radiographic appearance of the long bones, aAbnormal positioning in which the elbows are turned out

Cuboid-shaped thoracolumbar vertebral bodies

Severely shortened metacarpal with a cuboidal appeara

Wide, concave rib end.

A deviation from the normal straight shape of the first mA deviation from the normal straight shape of a proximalA deviation from the normal straight form of one or morA deviation from the normal straight form of one or more A deviation from the normal straight form of one or moreA deviation from the normal straight form of one or more

Curved appearance of the distal phalanx of the 2nd fingeA deviation from the normal straight form of the distal phCurved appearance of the distal phalanx of the 3rd fingeA deviation from the normal straight form of the distal phaCurved appearance of the distal phalanx of the 4th (ring)A deviation from the normal straight form of the distal phCurved appearance of the distal phalanx of the 5th (little)A deviation from the normal straight form of the distal phaA deviation from the normal straight form of the distal phA deviation from the normal straight shape of the distal A deviation from the normal straight form of one or more

A deviation from the normal straight form of one or more

Curved appearance of the middle phalanx of the 2nd fingA deviation from the normal straight form of the middle pCurved appearance of the middle phalanx of the 3rd (midA deviation from the normal straight form of the middle phCurved appearance of the middle phalanx of the 4th (ringA deviation from the normal straight form of the middle pCurved appearance of the middle phalanx of the 5th fingA deviation from the normal straight form of the middle phA deviation from the normal straight form of one or mor

Curved appearance of the phalanges of the 3rd finger.Curved appearance of the phalanges of the 4th (ring) finCurved phalanges of the 5th (little) finger.

Curved appearance of the proximal phalanx of the 2nd fiA deviation from the normal straight form of the proximalCurved appearance of the proximal phalanx of the 3rd fiA deviation from the normal straight form of the proximal

A deviation from the normal straight form of the proximalCurved appearance of the proximal phalanx of the 5th fiA deviation from the normal straight form of the proximal A deviation from the normal straight form of the proximalA deviation from the normal straight shape of the proximA deviation from the normal straight shape of a proximalA deviation from the normal straight shape of a thumb pA deviation from the normal straight form of one or morA soft tissue continuity in the A/P axis between two fingerA soft tissue continuity in the A/P axis between two digitsA soft tissue continuity in the anteroposterior axis betweeA soft tissue continuity in the anteroposterior axis betweeDisseminated multifocal hemangiomatous or lymphangiomato

Decreased anterioposterior diameter of lumbar vertebral bodies

Decreased cervical spine flexion due to contractures of posterior cervical muscles

Reduced ability to move the femur outward to the side.

Decreased movement range in interphalangeal jointsA less than normal number of sternal ossification centersPoorly defined or shallow palmar creases.Excessively deep creases of the palm.

Malformation of the `rib cage` (FMA:7480).

Delayed maturation and calcification of the `calcaneus`A delay in the process of formation and maturation of th

Delayed ossification of the `femoral head` (FMA:32851).A delay in the process of formation and maturation of tOssification of carpal bones occurs later than age-adjusDelayed maturation and calcification of the rami (branchOssification of hand bones is less advanced than wouldFormation of bone tissue of scaphoid is less than expectFormation of bone tissue of `trapezium` (FMA:23721) is Formation of bone tissue of `trapezoid` (FMA:23724) is A delay in the process of formation and maturation of thFormation of bone in the patella later than normal.Delay in the process of formation and maturation of theDevelopmental delay of ossification of the `proximal epiDelayed maturation and calcification of the pubic bone.A decreased rate of skeletal maturation. Delayed skeletDelayed maturation and calcification of the `talus` (FMADelayed maturation and calcification of any of the `tarsA delay in the process of formation and maturation of tDense radiopaque bands of bone which are thicker than

Deviated fingers is a term that should be used if one or Displacement of the 2nd finger from its normal position.Displacement of the 3rd finger from its normal position.Displacement of the 4th finger from its normal position.Displacement of the 5th finger from its normal position.Displacement of the hand or of fingers of the hand from t

Displacement of the `big toe` (FMA:25047) from its normaDisplacement of the thumb from its normal position.An elevation in bone density of the cortex of one or mor

An elevation in bone density in one or more diaphyses. SAn elevation in bone density in one or more diaphyses of

Inflammation of the flexor digitorum tendon, often associa

A dislocation of the head of the radius from its socket in

Joint dislocation of the `femoral head` (FMA:32851).

Disproportionate prominence of the femoral medial condyleA type of `disproportionate short stature` (HP:0003498)

A form of arthrogryposis primarily affecting the hands anA bending or abnormal curvature of the distal portion of

The term distal symphalangism refers to a bony fusion of

A bending or abnormal curvature of the distal portion of The presence of abnormal punctate (speckled, dot-like) calUnderdevelopment of the distal portion of the ulna.Muscular atrophy of distal arm muscles.Abnormal increase in width of the distal region of the mFusion of the terminal/distal and middle phalanges of theFusion of the terminal/distal and middle phalanges of theFusion of the terminal/distal and middle phalanges of theFusion of the terminal/distal and middle phalanges of theInsertion of thumb at a more distal location than normal.Partial dislocation of the ulna in the dorsal direction.Duplication of the metacarpal I bones.Low set, steeply sloping shoulders.Rounding and broadening of the tufts of the distal phalaThe `femur` (FMA:9611) is shortened and displays flarinThe `humerus` (FMA:13303) is shortened and displays flAn abnormal appearance of the long bones with resemblan

Duplication of bones involving the upper extremitiesA partial or complete duplication of one or more `distal

Partial or complete duplication of a `middle phalanx of This term applies if one or more of the phalanges of the This term applies if one or more of the phalanges of the This term applies if one or more of the phalanges of the This term applies if one or more of the phalanges of the Partial or complete duplication of one or more `phalanx This term applies if one or more of the phalanges of the Partial or complete duplication of `phalanx of third toe`Partial or complete duplication of `phalanx of fourth toePartial/complete duplication of one or more `phalanx ofPartial/complete duplication of a `proximal phalanx of tPartail or complete duplication of the `first metacarpalA developmental defect consisting in the duplication of t

This term applies if one or more of the distal phalanges Partial or complete duplication of the `distal phalanx ofPartial or complete duplication of the `distal phalanx ofPartial or complete duplication of the `distal phalanx ofPartial or complete duplication of `distal phalanx of thirPartial or complete duplication of the `distal phalanx of Partial or complete duplication of the `distal phalanx of Partial or complete duplication of the `distal phalanx of lPartial or complete duplication of the `distal phalanx of l

Complete or partial duplication of the distal phalanx ofThis term applies if one or more of the middle phalanges Partial or complete duplication of the `middle phalanx ofPartial or complete duplication of `middle phalanx of sPartial or complete duplication of the `middle phalanx oPartial or complete duplication of `middle phalanx of thiPartial or complete duplication of the `middle phalanx ofPartial or complete duplication of `middle phalanx of foPartial or complete duplication of the `fifth middle phalPartial or complete duplication of the middle phalanx of tPartial or complete duplication of a `phalanx of second Partial or complete duplication of one or more `phalanx oThis term applies if one or more of the proximal phalangePartial or complete duplication of the `second proximalPartial or complete duplication of `proximal phalanx of Partial or complete duplication of the `third proximal pPartial or complete duplication of `proximal phalanx of tPartial or complete duplication of the `fourth proximal Partial or complete duplication of the `proximal phalanx Partial or complete duplication of the `fifth proximal phPartial or complete duplication of the `proximal phalanx Partial or complete duplication of the `proximal phalanx Complete or partial duplication of the proximal phalanx Complete or partial duplication of the phalanges of the An abnormality of the hand resulting from contracture ofA type of dysharmonic skeletal maturation in which thereDifferent levels of maturation of different bones.A type of dysharmonic skeletal maturation in which therePattern of hand-wrist development does not fit the norma

The presence of `developmental dysplasia` (MPATH:64) Abnormally developed (dysplastic) distal epiphysis of the

Dysplastic distal thumb phalanges with a central hole

Developmental acceleration of ossification of the `proxiEarly progressive calcific cardiac valvular disease

Easily subluxated first metacarpophalangeal jointsIn contrast to forms of polydactyly where the supernumeraIn contrast to forms of polydactyly where the supernumerarDeposition of calcium salts in a tissue or location in whiFormation of abnormal, extraskeletal bony tissue, i.e., tFormation of abnormal bony tissue within `ligament` (FMFormation of abnormal bony tissue within `muscle` (FMAFormation of abnormal bony tissue within `tendon` (FMAEctopic respiratory epithelium presenting as a superficialA condition in which middle parts of the hands and/or fee

Dislocation of the distal humerus out of the elbow jointA chronic loss of elbow joint motion due to structural cIncreased length of the `radius` (FMA:23463).Increased size of epiphyses.Abnormally large size of the epiphyses of the 2nd finge

Abnormally large size of the epiphyses of the 3rd finge

Abnormally large size of the epiphyses of the 4th finger

Abnormally large size of the epiphyses of the 5th finger

Enlarged epiphyses of the distal phalanges of the hand

Enlarged epiphyses of the middle phalanges of the handAbnormally large size of the epiphyses of the phalanges

Enlarged epiphyses of the proximal phalanges of the hand

Abnormally large size of the epiphyses of the 1st metac

Abnormally large size of the epiphysis located at the prEnlarged epiphysis of the distal phalanx of the 2nd toe

Abnormally large size of the epiphysis located at the proEnlarged epiphysis of the distal phalanx of the 3rd toe

Abnormally large size of the epiphysis located at the proEnlarged epiphysis of the distal phalanx of the 4th toe

Abnormally large size of the epiphysis located at the proEnlarged epiphysis of the distal phalanx of the 5th toeEnlarged epiphysis of the distal phalanx of the hallux

Abnormally large size of the epiphysis located at the prEnlarged epiphysis of the middle phalanx of the 2nd fingerEnlarged epiphysis of the middle phalanx of the 2nd toe

Abnormally large size of the epiphysis located at the prEnlarged epiphysis of the middle phalanx of the 3rd toe

Abnormally large size of the epiphysis located at the prEnlarged epiphysis of the middle phalanx of the 4th toe

Abnormally large size of the epiphysis located at the prEnlarged epiphysis of the middle phalanx of the 5th toeEnlarged epiphysis of the proximal phalanx of the 2nd finger

Enlarged epiphysis of the proximal phalanx of the 2nd toeAbnormally large size of the epiphysis located at the pr

Enlarged epiphysis of the proximal phalanx of the 3rd toeAbnormally large size of the epiphysis located at the pr

Enlarged epiphysis of the proximal phalanx of the 4th toeAbnormally large size of the epiphysis located at the pr

Enlarged epiphysis of the proximal phalanx of the 5th toeEnlarged epiphysis of the proximal phalanx of the hallux

Abnormally large size of the epiphysis located at the pro

Increase in size of one or more joints.Abnormally large size of the metaphyseal epiphyses.

Abnormal increase in size of one or more metaphyses.

Enlarged sagittal diameter of the cervical canal

Abnormally large size of the epiphyses of the thumb wiIncreased size of the `vertebral pedicle` (FMA:11950).

Abnormally increased size of the costochondral junctions,An abnormal enlargement of the `distal epiphysis of theAn abnormal enlargement of the `proximal epiphysis of

The presence of abnormal punctate (speckled, dot-like) The presence of abnormal punctate (speckled, dot-like) caThe presence of abnormal punctate (speckled, dot-like) cThe presence of abnormal punctate (speckled, dot-like) cThe presence of abnormal punctate (speckled, dot-like) cThe presence of abnormal punctate (speckled, dot-like) ca

Abnormal plantar flexion of the calcaneus relative to the Flaring of distal `femur` (FMA:9611).An increased degree of femoral version, which is defineAn exostosis is a benign growth the projects outward fro

Abnormal formation of new bone on the surface of a bon

Expanded metacarpals with widened medullary cavitiesExpanded metatarsals with widened medullary cavitiesExpanded phalanges with widened medullary cavities

Failure of the femur to develop.Bowing (abnormal curvature) of the `femur` (FMA:9611).Congenital onset bending or abnormal curvature of the Tumor-like growths that consist of replacement of the medAbsence of the fibula.A bending or abnormal curvature of the `fibula` (FMA:24

Duplication of the fibula. This may occur as a part of diUnderdevelopment of the fibula.Relatively increased growth of the fibula compared to thatBending or curvature of the `distal phalanx of little fingerPresence of an angular or V -shaped indentation on the ulnBending or curvature of a `fifth toe` (FMA:25053) in the tib

Webbing or fusion of the fingers, involving soft parts on

Flaring (increase of width with a splayed appearance) Widening of the `ilium ala` (FMA:42826), that is of the wi

The presence of splayed (i.e.,flared) metaphyseal segme

The presence of wide, concave anterior rib ends.Flattening of the superior part of the acetabulum, which An abnormal flattening of the `proximal epiphysis of thAn abnormal flattening of the 'Distal epiphysis of femurAbnormally flat configuration of the `glenoid fossa` (FMAAbnormal flatness (decreased height) of epiphyses.An abnormally flattened `femoral head` (FMA:32851).

Abnormally flat shape of the heads of the metacarpal boAbnormally flat shape of the heads of the metatarsal bo

An abnormally flat form of the proximal epiphysis of the

Flattened, squared-off epiphyses of tubular bones

A flexion contracture is a bent (flexed) joint that cannot

One or more bent (flexed) joints of the third toe that canChronic loss of joint motion in a finger due to structuralChronic loss of joint motion in the 2nd finger due to struOne or more bent (flexed) joints of the second toe that cOne or more bent (flexed) joints of the fourth toe that caOne or more bent (flexed) joints of the fifth toe that cannOne or more bent (flexed) joints of the first (big) toe thaChronic loss of joint motion in the thumb due to structurOne or more bent (flexed) toe joints that cannot be straiLimitation of the ability to bend the toes.`Hyperkeratosis` (HP:0000962) affecting the palm of the hA difference in size or shape between the left and right fWeakness of the muscles responsible for dorsiflexion of tA kind of `polydactyly` (HP:0010442) characterized by t

Forearm shortening because of underdevelopment of oneBending or curvature of a `fourth toe` (FMA:25052) in the t

An increased tendency to fractures of the long bones (MaiFragmented appearance of the epiphyses of the 2nd fing

Fragmented appearance of the epiphyses of the 3rd fing

Fragmented appearance of the epiphyses of the 4th fing

Fragmented appearance of the epiphyses of the 5th fing

Fragmentation of the epiphyses of the distal phalanges of the hand

Fragmented appearance of the epiphyses of the middle Fragmented appearance of the epiphyses of the phalange

Fragmentation of the epiphyses of the proximal phalanges of the hand

Epiphysis of the 1st metacarpal having multiple bony frFragmentation of the epiphysis of the 1st metatarsal

Fragmented appearance of the epiphysis of the distal phaFragmentation of the epiphysis of the distal phalanx of the 2nd toe

Fragmented appearance of the epiphysis of the distal phaFragmentation of the epiphysis of the distal phalanx of the 3rd toe

Fragmented appearance of the epiphysis of the distal phaFragmentation of the epiphysis of the distal phalanx of the 4th toe

Fragmented appearance of the epiphysis of the distal phaFragmentation of the epiphysis of the distal phalanx of the 5th toeFragmentation of the epiphysis of the distal phalanx of the hallux

Epiphysis of the distal phalanx of the thumb having multFragmentation of the epiphysis of the middle phalanx of the 2nd fingerFragmentation of the epiphysis of the middle phalanx of the 2nd toe

Fragmented appearance of the epiphysis of the middle phFragmentation of the epiphysis of the middle phalanx of the 3rd toe

Fragmented appearance of the epiphysis of the middle phFragmentation of the epiphysis of the middle phalanx of the 4th toe

Fragmented appearance of the epiphysis of the middle phFragmentation of the epiphysis of the middle phalanx of the 5th toeFragmentation of the epiphysis of the proximal phalanx of the 2nd fingerFragmentation of the epiphysis of the proximal phalanx of the 2nd toe

Fragmented appearance of the epiphysis of the proximal Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe

Fragmented appearance of the epiphysis of the proximal Fragmentation of the epiphysis of the proximal phalanx of the 4th toe

Fragmented appearance of the epiphysis of the proximal Fragmentation of the epiphysis of the proximal phalanx of the 5th toeFragmentation of the epiphysis of the proximal phalanx of the hallux

Epiphysis of the proximal phalanx of the thumb having mFragmented appearance of the epiphyses of the metacarEpiphysis of the thumb having multiple bony fragments.Fragmented appearance of the epiphyses.

`Calcification` (PATO:0001447), that is, pathological depA generalized decrease in bone mineral density.Joint hypermobility (ability of a joint to move beyond its A sensation of stiffness in the joints that occurs followi

Generalized osteoporosis with pathologic fracturesAn abnormal increase of bone mineral density with generGeneralized weakness of the muscles of the arms and l

The legs angle inward, such that the knees are close togA positional abnormality marked by outward bowing of thA bone tumor composed of cellular spindle-cell stroma coUnderdevelopment of the `glenoid fossa` (FMA:23275), whiRecurrent attacks of acute inflammatory arthritis of a `j`Gout` (HP:0001997) affecting the `Metatarsophalangeal j

Lateral deviation of the great toe (i.e., in the direction of tMedial deviation of the great toe owing to a deformity of Hyperextension of the metatarsal-phalangeal joint with hy

An abnormal hand posture in which the hands are clenchedMuscular atrophy involving the muscles of the hand.A kind of `polydactyly` (HP:0010442) characterized by tBony swelling of the distal interphalangeal joint (DIP) ass

Undergrowth of the limbs that affects only one side.Unilateral atrophy (reduction in size) of a leg.Unilateral atrophy (reduction in size) of an arm.Overgrowth of only one side of the body.Overgrowth of only one leg.Overgrowth of only one arm.Shortening of a leg affecting only one side.A hemisacral defect involving the sacral vertebrae S2 toAbsence of one half of the vertebral body.The presence of abnormal `calcium deposition` (MPATH:3The presence of one or more `herniated` (PATO:0000643)

Increased height of the wing (or ala) of the ilium (which Permanent fixation of the hip in primary positions, with liDisplacement of the femur from its normal location in the The presence of `developmental dysplasia` (MPATH:64)

With the hand relaxed and the thumb in the plane of the

A horizontal (flat) conformation of the ribs, the long cur

An abnormal osseous union (fusion) between the radiusAn abnormal osseous union (fusion) between the ulna a

The ability of the elbow joint to move beyond its normal The ability of the wrist joints to move beyond their normThe ability of the finger joints to move beyond their norThe ability of the knee joint to move beyond its normal rThe ability of the joints of the hand to move beyond theiThe ability of the thumb joints to move beyond their norAbnormally increased cuvature (anterior concavity) of th

The ability of the interphalangeal joints to move beyond An ability of the toe joints to move beyond their normal Excessive growth or abnormal thickening of bone tissue.

Presence of an additional phalanx-like bone, producing Presence of an additional phalanx-like bone, producing aAbnormal increase in size of the lower limbs (due to an inAbnormal increase in size of the upper limbs (due to an in

Underdevelopment of the deltoid muscle.

Proximal radial shortening owing to a congenital defect Underdevelopment of the heel bone.Underdevelopment of the `proximal epiphysis of the feUnderdevelopment of the `femoral head` (FMA:32851).

Underdevelopment of the `lesser trochanter` (FMA:3285Developmental hypoplasia of the `dens of the axis` (FM

Underdevelopment of the radius.Underdevelopment of the `ulna` (FMA:23466).

Underdeveloped acetabulae.Underdevelopment of the biceps muscle.

Underdevelopment of the distal portion of the humerus.Underdevelopment of the distal epiphysis of the radius.

Underdevelopment of the `ilium` (FMA:16589).Underdevelopment of the `body of ilium` (FMA:42825).Underdevelopment of the `ilium ala` (FMA:42826).

Underdevelopment of the `ischium` (FMA:16592), which fUnderdevelopment of the ischiopubic ramus, which is comUnderdevelopment of the `bony pelvis` (FMA:16580).

Underdeveloped `scapula` (FMA:13394).

Irregularities of the iliac crest that produce the appearanHorn-like malformations of the iliac crests with symmetric

Decreased length of the arm span (length from one end of

An abnormal increase of bone mineral density, that is, oAn abnormal increase in the carrying angle, which is the a

An abnormal increase in the bone density of the long bo

Increased width of the cross sectional diameter of the fib

An abnormal increase in the length of the tibia.An abnormally increased tendency to fractures of bones cIncreased top to bottom height of vertebral bodies.

A type of `disproportionate short stature` (HP:0003498) cA pterygium (or pterygia) in the intercrural (groin) region

Chronic loss of joint motion in an interphalangeal joint o

The presence of `degenerative changes` (PATO:0002037)The presence of abnormal `calcium deposition` (MPATH:3`Decreased height` (PATO:0000569) of the `intervertebr

Atrophy of the intrinsic muscle groups of the hand, com

Irregular surface of the normally relatively smooth capitaCarpal bones with irregular or fragmented margins.Irregular surface of the normally relatively smooth borderAnomaly of the contour of the `Distal epiphysis of femurAn alteration of the normally smooth contour of the epipIrregular radiographic opacity of the epiphyses of the 2nd

Irregular radiographic opacity of the epiphyses of the 3rd

Irregular radiographic opacity of the epiphyses of the 4th

Irregular radiographic opacity of the epiphyses of the 5th

Irregular epiphyses of the distal phalanges of the hand

Irregular radiographic opacity of the epiphyses of the meIrregular epiphyses of the middle phalanges of the hand

Irregular radiographic opacity of the epiphyses of the phIrregular epiphyses of the proximal phalanges of the hand

Uneven radiographic opacity of the epiphysis of the 1st

Irregular radiographic opacity of the epiphysis of the distIrregular epiphysis of the distal phalanx of the 2nd toe

Irregular radiographic opacity of the epiphysis of the distIrregular epiphysis of the distal phalanx of the 3rd toe

Irregular radiographic opacity of the epiphysis of the distIrregular epiphysis of the distal phalanx of the 4th toe

Irregular radiographic opacity of the epiphysis of the distIrregular epiphysis of the distal phalanx of the 5th toeIrregular epiphysis of the distal phalanx of the hallux

Uneven radiographic opacity of the epiphysis of the distIrregular epiphysis of the middle phalanx of the 2nd fingerIrregular epiphysis of the middle phalanx of the 2nd toe

Irregular radiographic opacity of the epiphysis of the midIrregular epiphysis of the middle phalanx of the 3rd toe

Irregular radiographic opacity of the epiphysis of the midIrregular epiphysis of the middle phalanx of the 4th toe

Irregular radiographic opacity of the epiphysis of the midIrregular epiphysis of the middle phalanx of the 5th toeIrregular epiphysis of the proximal phalanx of the 2nd fingerIrregular epiphysis of the proximal phalanx of the 2nd toe

Irregular radiographic opacity of the epiphysis of the proIrregular epiphysis of the proximal phalanx of the 3rd toe

Irregular radiographic opacity of the epiphysis of the proIrregular epiphysis of the proximal phalanx of the 4th toe

Irregular radiographic opacity of the epiphysis of the proIrregular epiphysis of the proximal phalanx of the 5th toeIrregular epiphysis of the proximal phalanx of the hallux

Irregular radiographic opacity of the epiphysis of the pr

Irregularity of the iliac crest, which is the superior borderIrregular morphology of one or more metacarpal bones.

An alteration of the normally relatively smooth margins oAlteration of the normally smooth radiographic contour

Anomaly of the contour of the proximal epiphysis of the t

Defective ossification in an irregular pattern of the sevUneven radiographic opacity of the one or more epiphys

An irregular surface of the vertebral end plates, which a

Sclerosis of the epiphyses, leading to an increased degreSclerosis of the epiphyses of the 2nd finger, leading to Epiphyses of the 2nd toe are hard and dense like ivorySclerosis of the epiphyses of the 3rd finger, leading to Epiphyses of the 3rd toe are hard and dense like ivory.Sclerosis of the epiphyses of the 4th finger, leading to Epiphyses of the 4th toe are hard and dense like ivory.Sclerosis of the epiphyses of the 5th finger, leading to Epiphyses of the 5th toe are hard and dense like ivory.Distal epiphyses of the hand are hard and dense like iv

Sclerosis of the epiphyses of the metacarpals, leading tEpiphyses of the middle phalanges of the hand are hardSclerosis of the epiphyses of the phalanges of the fingerEpiphyses of the proximal phalanges of the hand are ha

The epiphysis of the 1st metacarpal are hard and dense The epiphysis of the 1st metatarsal are hard and dense Sclerosis of the epiphysis of the distal phalanx of the 2n

Ivory epiphysis of the distal phalanx of the 2nd toeSclerosis of the epiphysis of the distal phalanx of the 3r

Ivory epiphysis of the distal phalanx of the 3rd toeSclerosis of the epiphysis of the distal phalanx of the ri

Ivory epiphysis of the distal phalanx of the 4th toeSclerosis of the epiphysis of the distal phalanx of the lit

Ivory epiphysis of the distal phalanx of the 5th toeIvory epiphysis of the distal phalanx of the hallux

Sclerosis of the epiphysis of the distal phalanx of the tIvory epiphysis of the middle phalanx of the 2nd fingerIvory epiphysis of the middle phalanx of the 2nd toe

Sclerosis of the epiphysis of the middle phalanx of the 3Ivory epiphysis of the middle phalanx of the 3rd toe

Sclerosis of the epiphysis of the middle phalanx of the rIvory epiphysis of the middle phalanx of the 4th toe

Sclerosis of the epiphysis of the middle phalanx of the liIvory epiphysis of the middle phalanx of the 5th toeIvory epiphysis of the proximal phalanx of the 2nd fingerIvory epiphysis of the proximal phalanx of the 2nd toe

Sclerosis of the epiphysis of the proximal phalanx of theIvory epiphysis of the proximal phalanx of the 3rd toe

Sclerosis of the epiphysis of the proximal phalanx of theIvory epiphysis of the proximal phalanx of the 4th toe

Sclerosis of the epiphysis of the proximal phalanx of the Ivory epiphysis of the proximal phalanx of the 5th toeIvory epiphysis of the proximal phalanx of the hallux

Sclerosis of the epiphysis of the proximal phalanx of theSclerosis of one or more of the epiphyses of the thumb, Chronic loss of joint motion in the 3rd finger due to struChronic loss of joint motion in the 4th finger due to struChronic loss of joint motion in the 5th finger due to struContractures of one ore more joints of the hands meaningContractures of one ore more joints of the feet meaning cDisplacement or malalignment of joints.

`Hemorrhage` (MPATH:119) occurring within a `joint` (

The ability of a joint to move beyond its normal range ofLack of stability of a joint.Joint stiffness is a perceived sensation of tightness in a

Juvenile aseptic necrosis comprises a group of orthopedi

A bent (flexed) knee joint that cannot be straightened act

An abnormal curvature of the spine in both a coronal (lateExaggerated anterior convexity of the thoracic vertebral`Calcification` (PATO:0001447), that is, pathological depos

Increased size of carpal bones.

Increased size of the `ilium ala` (FMA:42826).

The presence of an abnormally large pelvis.

Calcification (abnormal deposits of calcium) in the laryng

A developmental anomaly with lateral displacement of tA lateral bending or abnormal curvature of the `femur`

A type of `disproportionate short stature` (HP:0003498) ch

A contrqacture (chronic loss of joint motion due to struChronic pain in the limbs with no clear focal etiology.Limb shortening because of underdevelopment of one or A reduction in the freedom of movement of one or more jAn abnormal limitation of knee joint mobility.An abnormal limitation of the mobility of the ankle joint.Limited ability to straighten the arm at the elbow joint.

Limitation of the extension of the hip, i.e., decreased abA decreased ability to move the femur at the hip joint as

Limited mobility of proximal interphalangeal jointA limitation of the ability to place the forearm in a positA limitation of the range of movement of the shoulder joi

An abnormal limitation of the mobility of the wrist.Increased length of the clavicles.

Increased length of the `distal phalanx of finger` (FMA:7Disproportionately long fibulae.The middle finger is more than 2 SD above the mean for neIncreased back to front length of the foot.Increased length of the `big toe` (FMA:25047).An abnormally increased length of the metacarpal bonesIncreased length of the `middle phalanx of finger` (FMAFor children from birth to 16 years of age the length of tIncreased length of multiple or a single `phalanx of fingIncreased length of the `proximal phalanx of finger` (FM

Increased inferior to superior extent of the thorax.Digits that appear disproportionately long compared to thIncreased length of the ulna.

A difference in length or diameter between the left and riPain in the leg with no clear focal etiology.`Peromelia` (HP:0009828) affecting only the lower limbs. `Phocomelia` (HP:0009829) affecting only the lower limbLeg shortening because of underdevelopment of one or mA reduction of the distance between the lower thoracic veOver curvature of the lower thoracic region, leading to aAbsence of one half of the vertebral body in the lumbar An abnormal accentuation of the inward curvature of the Narrowing (becoming gradually narrower) of the distance

Over curvature of the lumbar region.

A flattened vertebral body shape with reduced distance

An abnormal narrowing of the lumbar spinal canal.

Significant increase in the length and girth of most or aA type of `Macrodactyly` (HP:0004099) affecting one or sA type of `Macrodactyly` (HP:0004099) affecting one or

Malalignement of carpal bone angles either with respect

Extreme thickening of the cortex of long bones.`Calcification` (PATO:0001447), that is, pathological depo`Calcification` (PATO:0001447), that is, pathological depo`Calcification` (PATO:0001447), that is, pathological dep`Calcification` (PATO:0001447), that is, pathological depo

Medial deviation of the `second toe` (FMA:25048).

The presence of a supernumerary toe (not a hallux) involThe presence of a supernumerary finger (not a thumb) inThe presence of a supernumerary finger or toe (not a thuShortening of the middle parts of the limbs (forearm and Shortening of the middle parts of the arm in relation toShortening of the middle parts of the leg in relation to Increase in bone denisty in the diaphyseal (shaft) regio

Fusion involving two or more metacarpal bones (A synostA chronic loss of joint motion in metacarpophalangeal joIncreased mobility of one ore more `metacarpophalangeaFusion of a metacarpal bone with the proximal phalanx of

Metaphyseal abnormalities of distal and proximal femursAn abnormality of skeletal development characterized by Metaphyseal cupping refers to an inward bulging of the Metaphyseal cupping affecting the metacarpal bones.Metaphyseal cupping affecting the proximal phalanges.The presence of spots or rounded patches of abnormally

The presence of dysplastic regions in metaphyseal bone

Irregularity of the normally smooth surface of the metapReduction in density of metaphyseal bony tissue.Abnormally increased density of metaphyseal bone.Bony outgrowths that extend laterally from the margin ofAbnormal widening of the metaphyseal regions of long Osteosclerosis of the endosteal surface of the diaphysesOsteolysis involving metatarsal bones.

The metatarsals are deviated medially (tibially), that is,

A condition in which the anterior part of the foot rotateThe presence of abnormally small extremities.Developmental defect resulting in congenital absence of tUnderdevelopment of the middle portion of the clavicle.`Mirror image duplication of digits` (HP:0010689) affectin`Mirror image duplication of digits` (HP:0010689) affectiA hand or foot with more than five digits that has a recogA developmental anomaly with absence of one or more rAbnormal calcification of the `mitral valve` (FMA:7235).Fusion of the hands and feet by a thin membrane of skin

Moderate osteoporosis.

`Fibrous dysplasia of the bones` (HP:0010734) were lesiMorbus Kienboeck is a `Juvenile aseptic necrosis` (HP:Morbus Koehler is a `Juvenile aseptic necrosis` (HP:010Morbus Osgood-Schlatter is a `Juvenile aseptic necrosisA developmental growth retardation of the vertebral end There is normally one ossification center in the head of t

Multicentric ossification of proximal femoral epiphysesMulticentric ossification of proximal humeral epiphyses

Presence of multiple cystic changes in multiple ares or mA delay in the process of formation and maturation of tMultiple exostoses originating in the fingers and toes.

Presence of more than one exostosis. An exostosis is a b

Dislocation of many joints.Multiple exostoses originating in long bones.The presence of multiple creases on the palm of the hanThe presence of bone fractures in the prenatal period tha

More than one fracture of the ribs.

`Calcium deposition` (MPATH:36) in the `myocardium` An abnormal reduction of the anterioposterior diameter

Reduced width of the chest from side to side, associated An abnormally reduced diameter of the femoral neck (whiA foot for which the measured width is below the 5th centiDecreased width of the `foramen obturatorium` (FMA:169A narrowing of the sacrosciatic notch, i.e., the deep indeDecreased width of the wing (or ala) of the ilium (which

For children from birth to 4 years of age, the palm widthReduced side to side width of the pelvis.

A reduction of the distance between vertebral pedicles, wPterygia affecting the neck.The presence of abnormal punctate (speckled, dot-like) cA type of `disproportionate short stature` (HP:0003498) cA benign or malignant `neoplasm` (MPATH:218) (tumour)

A form of triphalangeal thumb that cannot be placed oppThe presence of a `fifth metatarsal bone` (FMA:24506) th

Normal density transverse bands in metaphyses of the upper limbs

A developmental defect resulting in the presence of feweA developmental defect resulting in the presence of fewA developmental defect resulting in the presence of fewA form of triphalangeal thumb that can be placed opposiSeparation of the odontoid process from the body of the Webbing or fusion of the fingers, involving soft parts anWebbing or fusion of the toes, involving soft parts and in

Osteoarthritis of the distal interphalangeal joint

A benign, painful, tumor of bone characterized by the formA joint disorder caused by blood deprivation in the subcOsteolysis refers to the destruction of bone through bone

An increased resorption of bone matrix by osteoclasts le

`Osteolysis` (HP:0002797) affecting the `talus` (FMA:97Dissolution or degeneration of bone tissue of the distal Dissolution or degeneration of bone tissue of the proximDissolution or degeneration of bone tissue of the proximDissolution or degeneration of bone tissue of one or moDissolution or degeneration of bone tissue of the 1st meDissolution or degeneration of bone tissue of the first me

Osteolytic defects of the distal phalanges of the handOsteolytic defects of the distal phalanges of the toes

Dissolution or degeneration of bone tissue of the distal pOsteolytic defects of the distal phalanx of the 2nd toe

Dissolution or degeneration of bone tissue of the distal pOsteolytic defects of the distal phalanx of the 3rd toe

Dissolution or degeneration of bone tissue of the distal pOsteolytic defects of the distal phalanx of the 4th toe

Dissolution or degeneration of bone tissue of the distal pOsteolytic defects of the distal phalanx of the 5th toeOsteolytic defects of the distal phalanx of the hallux

Osteolytic defects of the middle phalanges of the handOsteolytic defects of the middle phalanges of the toes

Dissolution or degeneration of bone tissue of the middle Osteolytic defects of the middle phalanx of the 2nd toe

Dissolution or degeneration of bone tissue of the middle Osteolytic defects of the middle phalanx of the 3rd toe

Dissolution or degeneration of bone tissue of the middle Osteolytic defects of the middle phalanx of the 4th toe

Dissolution or degeneration of bone tissue of the middle Osteolytic defects of the middle phalanx of the 5th toeOsteolytic defects of the phalanges of the 2nd fingerOsteolytic defects of the phalanges of the 2nd toe

Dissolution or degeneration of bone tissue of the phalangOsteolytic defects of the phalanges of the 3rd toe

Osteolytic defects of the phalanges of the 4th (ring) fingeOsteolytic defects of the phalanges of the 4th toe

Dissolution or degeneration of bone tissue of the phalangOsteolytic defects of the phalanges of the 5th toeOsteolytic defects of the phalanges of the hallux

Dissolution or degeneration of bone tissue of the phalan

Osteolytic defects of the proximal phalanges of the handDissolution or degeneration of bone tissue of the proxima

Osteolytic defects of the proximal phalanx of the 2nd toeDissolution or degeneration of bone tissue of the proxima

Osteolytic defects of the proximal phalanx of the 3rd toeDissolution or degeneration of bone tissue of the proxima

Osteolytic defects of the proximal phalanx of the 4th toeDissolution or degeneration of bone tissue of the proxima

Osteolytic defects of the proximal phalanx of the 5th toeOsteolytic defects of the proximal phalanx of the hallux

Osteomas are bony growths found most commonly on the Osteomalacia is a general term for bone weakness owing tAn infection of bone.

A lamellar pattern visible on radiographs and mainly locaOsteopenia refers to a reduction in bone mineral densitAbnormally increased formation of dense trabecular boneOsteopoikilosis is a benign, asymptomatic sclerotic dyspOsteoporosis is a systemic skeletal disease characterizOsteoporosis affecting predominantly the vertebrae.

Decrease in mass and density of the metatarsal bones.Reduction in bone mineral density affecting any or all oA malignant bone tumor that usually develops during adol

Osteosclerosis of ribs (increased density related to incAn increase in bone density affecting the basicranium (baOsteosclerosis (increased density related to increased b

A finger resting on the dorsal surface of an adjacent digiDescribes a foot digit resting on the dorsal surface of an

Overconstriction, or narrowness of the diaphysis and me

When viewed in lateral radiographs, vertebral bodies havAn increased tendency to fractures following trauma, with

The presence of telangiectases on the `skin of palm ofA type of blistering that affects the skin of the palms of Cutis gyrata of palms and soles.Loose, wrinkled skin of hands and feet.`Hyperkeratosis` (HP:0000962) affecting the palm of the

Palmoplantar keratosis with erythema and scaleThe presence of abnormal `calcium deposition` (MPATH:The absence of a phalangeal segment of a finger.The absence of a phalangeal segment of a thumb.The absence of a phalangeal segment of a toe or hallux.Partial duplication of a `phalanx of second toe` (FMA:32A developmental defect consisting in the duplication of paA partial duplication, depending on severity leading to aPartial duplication of the `distal phalanx of index fingePartial duplication of the `distal phalanx of second toe`Partial duplication of the `distal phalanx of middle fingPartial duplication of `distal phalanx of third toe` (FMA:Partial duplication of the `distal phalanx of ring finger`Partial duplication of the `distal phalanx of fourth toe` Partial duplication of the `distal phalanx of little fingePartial duplication of the `distal phalanx of little toe` (F

Partial duplication of the distal phalanx of the halluxA partial duplication, depending on severity leading to aPartial duplication of the `middle phalanx of index fingePartial duplication of `middle phalanx of second toe` (FPartial duplication of the `middle phalanx of middle fingPartial duplication of `middle phalanx of third toe` (FMAPartial duplication of the `middle phalanx of ring fingerPartial duplication of `middle phalanx of fourth toe` (FMPartial duplication of the `fifth middle phalanx of hand`Partial duplication of the middle phalanx of the 5th toe.A partial duplication, depending on severity leading to aA partial duplication, depending on severity leading to aA partial duplication, depending on severity leading to aA partial duplication, depending on severity leading to a

Partial duplication of the phalanges of the halluxA partial duplication, depending on severity leading to aA partial duplication, depending on severity leading to a

Partial duplication of the `Second proximal phalanx of hPartial duplication of `proximal phalanx of second toe` Partial duplication of the `third proximal phalanx of hanPartial duplication of `proximal phalanx of third toe` (FPartial duplication of the `fourth proximal phalanx of h

Partial duplication of the proximal phalanx of the 4th toePartial or complete duplication of the `fifth proximal phPartial duplication of the `proximal phalanx of fifth toe`Partial duplication of the `proximal phalanx of big toe` A partial duplication, depending on severity leading to a

Patchy (irregular) changes in bone mineral density. The

Patchy (irregular) increase in bone density. This can taPatchy (irregular) reduction in bone density. This can tUneven (irregular) increase in bone density of one or moPatchy (irregular) increase in bone density of one or mUneven (irregular) increase in bone density of one or morPatchy (irregular) increase in bone density of one or moUneven increase in bone density of one or more of the phaPatchy (irregular) increase in bone density of one or moUneven increase in bone density of one or more of the phPatchy (irregular) increase in bone density of one or moUneven (irregular) increase in bone density of the distalPatchy (irregular) increase in bone density of one or moUneven (irregular) increase in bone density of one or moPatchy (irregular) increase in bone density of one or mo

Uneven (irregular) increase in bone density of one or moPatchy (irregular) increase in bone density of one or moUneven increase in bone density of the proximal phalangPatchy (irregular) increase in bone density of one or mo

Uneven increase in bone density within the 1st metacarp

Uneven (irregular) increase in bone density of the distalPatchy sclerosis of the distal phalanx of the 2nd toe

Uneven (irregular) increase in bone density of the distal pPatchy sclerosis of the distal phalanx of the 3rd toe

Uneven (irregular) increase in bone density of the distal Uneven increase in bone density of the distal phalanx ofPatchy increase in bone density of the distal phalanx of tPatchy (irregular) increase in bone density of the distal

Patchy sclerosis of the distal phalanx of the halluxAn uneven increase in bone density of the distal phalanxUneven (irregular) increase in bone density of the middl

Patchy sclerosis of the middle phalanx of the 2nd toe

Uneven (irregular) increase in bone density of the middle Patchy sclerosis of the middle phalanx of the 3rd toe

Uneven (irregular) increase in bone density of the middleUneven increase in bone density of the middle phalanx oPatchy increase in bone density of the middle phalanx of Uneven increase in bone density of the middle phalanx ofUneven (irregular) increase in bone density of the proxi

Patchy sclerosis of the proximal phalanx of the 2nd toeUneven (irregular) increase in bone density of the proxima

Patchy sclerosis of the proximal phalanx of the 3rd toeUneven (irregular) increase in bone density of the proximUneven increase in bone density of the proximal phalanxPatchy increase in bone density of the proximal phalanx oUneven increase in bone density of the proximal phalanx

Patchy sclerosis of the proximal phalanx of the halluxAn uneven increase in bone density of the proximal phalAn uneven increase in bone density of one or more of tUneven (irregular) increase in bone density of one or moPatchy (irregular) changes in bone mineral density with Absence of the patella.The kneecap normally is located within the groove termed tUnderdevelopment of the patella.The kneecap normally is located within the groove termed tA pathologic fracture occurs when a bone breaks in an arBulbous appearance of the anterior vertebral bodies, such

Underdevelopment of the pectoral muscle.A deformity of the chest caused by overgrowth of the ribA defect of the chest wall characterized by a depressionPectus excavatum (defect of the chest wall characterized

Peg-like central prominence of distal tibial metaphysesPelvic asymmetry refers to asymmetric positioning of lanA benign growth the projects outward from the bone surfa

Thickening of the `periosteum of long bone` (FMA:32677The distal parts of the limbs are missing leading to a stAtrophy of the peroneous muscles, `peroneus longus (alsThe presence of an unusually high `plantar arch` (FMA:439A foot where the `plantar arch` (FMA:43942) is in contact

Missing or malformed long bones of the extremities with tA hair-containing cyst or sinus usually in the coccygeal r

A sinus in the coccygeal region (the region of the interglu

A flattened vertebral body shape with reduced distance

All of the metacarpal bones of the hand have a pointed

A congenital anomaly characterized by the presence of

`Fibrous dysplasia of the bones` (HP:0010734) were lesiCombined syndactyly and polydactyly of the great toe.Decreased `ossification` ( GO:0001503) of the cervical veDecreased `ossification` ( GO:0001503) of the `vertebraA pterygium (or pterygia) occuring in the popliteal regionA foot deformity resulting due to an abnormality affectingPolydactyly of the foot most commonly refers to the preseSupernumerary digits located at the ulnar side of the hand

A form of polydactyly in which the extra digit or digits are Supernumerary digits located at the ulnar side of the haCombined syndactyly and polydactyly of the foot on the late

A dislocation of the head of the radius from its socket in Wide, concave posterior rib end.Complete or partial merging of the posterior part of adjacAn excessive concavity of the posterior surface of one oPartial dislocation of the head of the radius in the posteri

An abnormality of the shape of vertebrae, such that th

Duplication of all or part of the first ray.Supernumerary digits located at the radial side of the haA form of polydactyly in which the extra digit or digits arEarly ossification of the `costochondral junction` (FMA:79Mitral annular calcification (MAC) results from progressStop of growth at the epiphyseal plate the hyaline cartilStop of growth at the epiphyseal plate the hyaline cartilStop of growth at the epiphyseal plate the hyaline cartilStop of growth at the epiphyseal plate the hyaline cartilStop of growth at the epiphyseal plate the hyaline cartilStop of growth at the epiphyseal plate the hyaline cartilStop of growth at the epiphyseal plate the hyaline cartilFusion of the epiphysis and metaphysis of one or more pA premature fusion of the epiphyseal plates of the radius

Prematurely closed sternal sutures.Progressive bending or abnormal curvature of a `long b

Progressive calcification of costochondral cartilage

Progressive bone resorption in the distal part of the claviA progressive form of `scoliosis` (HP:0002650) with congProgressively worsening joint contractures.Progressive bending or abnormal curvature of the `fore

A `progressive` (PATO:0001818) form of `decreased heig

Progressive bending or abnormal curvature of the leg.The development of `Pes cavus` (HP:0001761) that is prProtruding heel bone, or `calcaneus`(FMA:24496).

A soft tissue prominence of the ventral aspects of the fi

Increased prominence of the `xiphoid process` (FMA:748

Intrapelvic bulging of the medial acetabular wall.The presence of multiple protuberances (bulges, or knobSlipped capital femoral epiphysis is defined as a posterOvergrowth of the proximal part of the fibula.

Muscular atrophy affecting proximally located muscles of t

`Proximal mislocalization` (PATO:0002179) of the `big t`Proximal mislocalization` (PATO:0002179) of the `thuA dislocation of the head of the radius from its socket in An abnormal osseous union (fusion) between the proximal

The term proximal symphalangism refers to a bony fusion Some or all of the metacarpal bones (i.e., metacarpal II

Bony fusion of the middle and proximal phalanges of theFusion of the proximal and middle phalanges of the 3rd fBony fusion of the middle and proximal phalanges of theFusion of the proximal and middle phalanges of the 4th fBony fusion of the middle and proximal phalanges of the Fusion of the proximal and middle phalanges of the 5th fBony fusion of the middle and proximal phalanges of the Fusion of the proximal and middle phalanges of the 2nd

A band of bone material of decreased density forming aloA pathologic entity characterized by a developmental defe

A pseudoepiphysis is a secondary ossification center dis

A pseudoepiphysis is a secondary ossification center dis

A pseudoepiphysis is a secondary ossification center dis

A pseudoepiphysis is a secondary ossification center dis

Pseudoepiphyses of the distal phalanges of the hand

A pseudoepiphysis is a secondary ossification center diPseudoepiphyses of the middle phalanges of the hand

A pseudoepiphysis is a secondary ossification center disPseudoepiphyses of the proximal phalanges of the hand

The epiphysis of the first metacarpal is localized at th

The normal epiphysis of the second metacarpal is localisThe normal epiphysis of the third metacarpal is localisedThe normal epiphysis of the fourth metacarpal is localiseThe normal epiphysis of the fifth metacarpal is localisedA pseudoepiphysis is a secondary ossification center dis

Pseudoepiphysis of the distal phalanx of the 2nd toeA pseudoepiphysis is a secondary ossification center dis

Pseudoepiphysis of the distal phalanx of the 3rd toeA pseudoepiphysis is a secondary ossification center dis

Pseudoepiphysis of the distal phalanx of the 4th toeA pseudoepiphysis is a secondary ossification center dis

Pseudoepiphysis of the distal phalanx of the 5th toePseudoepiphysis of the distal phalanx of the hallux

A pseudoepiphysis (which is a secondary ossification centPseudoepiphysis of the middle phalanx of the 2nd fingerPseudoepiphysis of the middle phalanx of the 2nd toe

A pseudoepiphysis is a secondary ossification center disPseudoepiphysis of the middle phalanx of the 3rd toe

A pseudoepiphysis is a secondary ossification center disPseudoepiphysis of the middle phalanx of the 4th toe

A pseudoepiphysis is a secondary ossification center disPseudoepiphysis of the middle phalanx of the 5th toePseudoepiphysis of the proximal phalanx of the 2nd fingerPseudoepiphysis of the proximal phalanx of the 2nd toe

A pseudoepiphysis is a secondary ossification center dis

Pseudoepiphysis of the proximal phalanx of the 3rd toeA pseudoepiphysis is a secondary ossification center dis

Pseudoepiphysis of the proximal phalanx of the 4th toeA pseudoepiphysis is a secondary ossification center dis

Pseudoepiphysis of the proximal phalanx of the 5th toePseudoepiphysis of the proximal phalanx of the hallux

A pseudoepiphysis (which is a secondary ossification cenA pseudoepiphysis (which is a secondary ossification cePterygia are 'winglike' triangular membranes occurring in

The presence of punctiform calcification of the bone of tAbsence of the quadriceps muscle.Muscular atrophy involving the quadriceps muscle.A row of beadlike prominences at the junction of a rib andA bending or abnormal curvature of the `radius` (:FMA:2Wrist is bent inward toward the thumb because of a congeBending or curvature of a finger toward the radial side (iDisplacement of the 2nd finger towards the radial side.Displacement of the 3rd finger towards the radial side (iDisplacement of the 4th finger towards the radial side (iAn abnormal position of the hand in which the wrist is be

Radial deviation of the hand or of fingers of the hand

Partial dislocation of the head of the radius.

An abnormal osseous union (fusion) between the radius The repeated occurence of bone fractures (implying an aPatellar dislocation occuring repeated times.Decreased length of the arm span (length from one end ofA reduction of bone mineral density, that is, of the amou

Inflammatory changes in the synovial membranes and articDisproportionate shortening of the proximal segment of Disproportionate shortening of the proximal segment of tDisproportionate shortening of the proximal segment of thRhomboid or triangular shaped 5th (little) finger distal pRhomboid or triangular shaped 5th (little) finger middle Rhomboid or triangular shaped 5th (little) finger proximaMultiple circumscribed bony excrescences located in the Complete or partial merging of adjacent ribs.

The presence of both a prominent heel and a convex cont

An abnormally round shape of the middle phalanx of the

Absent or nearly absent fibula.

A subtype of `skin dimples` (HP:0010781) presenting as an

The presence of a cyst, fistula, or abscess in the sacrocInflammation of the `sacroiliac joint` (FMA:21440), genInflammation of the synovial membrane of the `sacroiliac

A widely spaced gap between the first toe (the great toe

Absence of the scapulae.The presence of multiple exostoses on the scapula. An exAtrophy of the muscles that are responsible for moving tAbnormal protrusion of the scapula away from the surfacBony fusion between the humerus and scapula, leading to

Pain in the lower back and hip radiating in the distributioAn elevation in bone density in one or more distal phalaAn elevation in bone density in one or more phalanges ofAn elevation in bone density in one or more distal phalanAn elevation in bone density in one or more phalanges ofAn elevation in bone density in one or more distal phalanAn elevation in bone density in one or more phalanges ofAn elevation in bone density in one or more distal phalanAn elevation in bone density in one or more phalanges of An elevation in bone density in one or more distal phalanAn elevation in bone density in one or more distal phalaAn elevation in bone density in one or more phalanges ofAn elevation in bone density in one or more foot bones. An elevation in bone density in one or more phalanges ofOsteosclerosis affecting one or more bones of the hand.

Sclerosis of hand bones with transverse striations

An elevation in bone density in one or more middle phalaAn elevation in bone density in one or more middle phalaAn elevation in bone density in one or more proximal phaAn elevation in bone density in one or more proximal pha

Sclerosis of the distal phalanx of the 2nd finger

An elevation in bone density in the distal phalanx of the

An elevation of bone density in the distal phalanx of theSclerosis of the middle phalanx of the 2nd finger

Sclerosis of the middle phalanx of the 3rd fingerAn elevation in bone density in the middle phalanx of the

Sclerosis of the middle phalanx of the 4th finger

Sclerosis of the middle phalanx of the 5th finger

Sclerosis of the proximal phalanx of the 2nd fingerAn elevation in bone density in the proximal phalanx of

Sclerosis of the proximal phalanx of the 3rd fingerAn elevation in bone density in the proximal phalanx of t

Sclerosis of the proximal phalanx of the 4th fingerSclerosis of the proximal phalanx of the 4th toeSclerosis of the proximal phalanx of the 5th fingerSclerosis of the proximal phalanx of the 5th toe

An elevation of bone density in the proximal phalanx of

An elevation in bone density in one or more phalanges ofSclerosis with transverse striations in metaphyses of the upper limbs

Sclerotic humeral metaphysis with longitudinal striations

Sclerotic radial metaphysis with longitudinal striationsIncreased density of the bony tissue of the scapula.Sclerosis (increased density) affecting vertebral end platThe presence of an abnormal lateral curvature of the spi

Bending or curvature of a `second toe` (FMA:25048) in the

Severe degree of osteoporosis.

A broad chest.In contrast to the proximal phalanges of the digits 2-5, Hypoplasia of the `second finger` (FMA:24946), also knShort `second metacarpal bone`(FMA:23900) because ofUnderdevelopment (hypoplasia) of the `second toe` (FMHypoplastic/small 3rd (middle) finger.Short `third metacarpal bone`(FMA:23901).Underdevelopment (hypoplasia) of the `third toe` (FMA:Hypoplasia (congenital reduction in size) of the `fourth Short `fourth metacarpal bone` (FMA:23902).Underdevelopment (hypoplasia) of the `fourth toe` (FMAHypoplasia (congenital reduction in size) of the `fifth finShort `fifth metacarpal bone`(FMA:23903).Underdevelopment (hypoplasia) of the `fifth toe` (FMA:2Reduced length of the clavicles.

One or more digit that appears disproportionately short cShort distance from the end of the finger to the most distUnderdevelopment (hypoplasia) of the `distal phalanx ofHypoplasia (congenital reduction in size) of the `distal Reduced length of the `distal phalanx of the second toeHypoplasia (congenital reduction in size) of the `distal pDevelopmental hypoplasia of the `distal phalanx of thirdHypoplastic/small `distal phalanx of the fourth finger` (Developmental hypoplasia of the `distal phalanx of fourHypoplastic/small `distal phalanx of the fifth finger` (FMDevelopmental hypoplasia of the `distal phalanx of littlHypoplastic (short) `distal phalanx of the thumb` (FMA:2Short distance from the end of the toe to the most distal An abnormally short femoral neck (which is the process oAn abnormal shortening of the `femur` (FMA:9611).Short (hypoplastic) `fifth metatarsal bone` (FMA:24506).Abnormally short `finger` (FMA:9666) associated with dShort `first metatarsal bone`(FMA:24502).A measured foot length that is more than 2 SD below the meUnderdevelopment of both forearm bones, the ulna and thShort `fourth metatarsal bone` (FMA:24505).Underdevelopment (hypoplasia) of the `big toe` (FMA:25Underdevelopment of the humerus.

One or more abnormally short `long bone` (FMA:7474).Shortening of the legs related to developmental hypoplasDiminished length of one or more metacarpal bones in rel

Short metacarpals with rounded proximal endsDiminished length of a `metatarsal bone`(FMA:24492), wiShort (hypoplastic) `middle phalanx of finger` (FMA:7581Hypoplasia (congenital reduction in size) of the `middleReduced length of the `middle phalanx of second toe` (

Hypoplasia (congenital reduction in size) of the `middle Developmental hypoplasia of the `middle phalanx of thirHypoplastic/small `middle phalanx of the 4th finger` (FMDevelopmental hypoplasia of the `middle phalanx of fouAbsence or underdevelopment (hypoplasia) of the `middleDevelopmental hypoplasia of the middle phalanx of the Developmental hypoplasia (shortening) of `middle phalaShort `palm`(FMA:24920).Short (hypoplastic) `phalanx of finger` (FMA:23914), afUnderdevelopment (hypoplasia) of a `phalanx of big toeReduced length of one or more `phalanx of second toe` Developmental hypoplasia of the `phalanx of third toe` Developmental hypoplasia of one or more `phalanx of foDevelopmental hypoplasia of one or more `phalanx of litHypoplastic (short) `thumb phalanx` (FMA:35477).

Congenital hypoplasia of one or more `proximal phalanx Underdevelopment (hypoplasia) of the `proximal phalanxHypoplasia (congenital reduction in size) of the `proximReduced length of the `proximal phalanx of second toe`Hypoplasia (congenital reduction in size) of the `proximaAbnormal reduction in length of `proximal phalanx of thiHypoplastic/small `proximal phalanx of the fourth fingerDevelopmental hypoplasia of the `proximal phalanx of fAbsence or underdevelopment (hypoplasia) of the `proximDevelopmental hypoplasia of the `proximal phalanx of fHypoplastic (short) `proximal phalanx of the thumb` (FMA:Developmental hypoplasia (shortening) of `proximal phaReduced rib length.Short (hypoplastic) `second metatarsal bone` (FMA:2450Decreased inferosuperior length of the sternum.Underdevelopment of the `Third metatarsal bone` (FMA:2Reduced inferior to superior extent of the thorax.Hypoplasia (congenital reduction in size) of the `thumbUnderdevelopment (reduced size) of the tibia.A `toe` (FMA:25046) that appears disproportionately sho

Hypoplasia of all of the `distal phalanx of finger` (FMA:7Abnormally short `distal phalanx of toe` (FMA:75830) of aAbnormal reduction in length of all metacarpal bones.Short (hypoplastic `middle phalanx of finger` (FMA:75817),Abnormal shortening of all middle phalanges of toes.Abnormal reduction in length affecting all phalanges.Developmental hypoplasia (shortening) of all phalanges oCongenital hypoplasia of `proximal phalanx of finger` (FM

A displacement or misalignment of the humerus with respecChronic reduction in active and passive mobility of the The shoulder, or pectoral, girdle is composed of the clav

Underdevelopment of muscles of the shoulder.A partial dislocation of the shoulder joint.Presence of only one (instead of two, as normal) interphaThe distal and proximal transverse palmar creases are mA developmental defect in which the legs are fused toge

A general term describing features characterized by abReduced diameter of the `distal phalanx of finger` (FMADigits are disproportionately narrow (reduced girth) for th

Reduction in diameter of the `humerus` (FMA:13303).Reduced diameter of a `long bone` (FMA:7474).Reduced diameter of a `long bone` (FMA:7474) with a moDecreased width of the metacarpal bones (that is, reducReduced diameter of the `middle phalanx of finger` (FMReduced diameter of the `proximal phalanx of finger` (Digits are disproportionately narrow (reduced girth) for thReduction in diameter of the ??ulna` (FMA:23466).

A sloped configuration of the metaphysis (shaft) of the u

Reduced size of `cervical vertebrae` (FMA:72063).Reduced size of the `Distal epiphysis of femur` (FMA:32Reduction in the size or volume of epiphyses.Abnormally small size of the epiphyses of the 2nd finge

Abnormally small size of the epiphyses of the 3rd finge

Abnormally small size of the epiphyses of the 4th finge

Abnormally small size of the epiphyses of the 5th finge

Small epiphyses of the distal phalanges of the hand

Abnormally small size of the epiphyses located at the dSmall epiphyses of the middle phalanges of the hand

Abnormally small size of the epiphyses of the phalangesSmall epiphyses of the proximal phalanges of the hand

Abnormally small size of the epiphysis of the 1st metac

Abnormally small size of the epiphysis located at the prSmall epiphysis of the distal phalanx of the 2nd toe

Abnormally small size of the epiphysis located at the prSmall epiphysis of the distal phalanx of the 3rd toe

Abnormally small size of the epiphysis located at the pr

Small epiphysis of the distal phalanx of the 4th toeAbnormally small size of the epiphysis located at the pr

Small epiphysis of the distal phalanx of the 5th toeSmall epiphysis of the distal phalanx of the hallux

Abnormally small size of the epiphysis located at the prSmall epiphysis of the middle phalanx of the 2nd fingerSmall epiphysis of the middle phalanx of the 2nd toe

Abnormally small size of the epiphysis located at the prSmall epiphysis of the middle phalanx of the 3rd toe

Abnormally small size of the epiphysis located at the prSmall epiphysis of the middle phalanx of the 4th toe

Abnormally small size of the epiphysis located at the prSmall epiphysis of the middle phalanx of the 5th toeSmall epiphysis of the proximal phalanx of the 2nd fingerSmall epiphysis of the proximal phalanx of the 2nd toe

Abnormally small size of the epiphysis located at the prSmall epiphysis of the proximal phalanx of the 3rd toe

Abnormally small size of the epiphysis located at the prSmall epiphysis of the proximal phalanx of the 4th toe

Abnormally small size of the epiphysis located at the prSmall epiphysis of the proximal phalanx of the 5th toeSmall epiphysis of the proximal phalanx of the hallux

Abnormally small size of the epiphysis located at the pDisproportionately small hand.

Reduced muscle mass on the ulnar side of the palm, thatReduced size of the proximal epiphysis of the tibia.

Underdevelopment of the `scaphoid` (FMA:23709).Underdevelopment of the thenar eminence with reduced Abnormally small size of one or more of the epiphyses Underdevelopment of the `trapezium` (FMA:23721).Underdevelopment of the `trapezoid` (FMA:23724).

Formation of calcified tissue in the soft tissues surround

Ribs that are increased in width and taper to the posteriSpoon-shaped, broad thumbs.An abnormal narrowing of the spinal canal.

The presence of `developmental dysplasia` (MPATH:64)

An abnormal narrowing of the spinal canal related to a re

Flaring (widening) of the epiphysis.Divergence of digits along the anteroposterior axis (in thA condition in which middle parts of the foot (toes and m

A condition in which middle parts of the hand (fingers an

A disorder of bone growth affecting the vertebrae and thComplete bilateral fractures of the pars interarticularis reComplete bilateral fractures of the pars interarticularis rSpondylolysis is an osseous defect of the pars interarti

A congenital skeletal deformity characterized by the elev

An abnormally squared appearance of the bony pelvis, aA shift from the normally round (convex) appearance of

Stenosis of the medullary cavity of the long bones

Interphalangeal joint stiffness is a perceived sensation oShoulder joint stiffness is a perceived sensation of tighPoint-shaped (punctate) calcifications affecting the carp

Stippled calcification proximal humeral epiphyses

The presence of abnormal punctate (speckled, dot-like) ca

The presence of abnormal punctate (speckled, dot-like) ca

The presence of abnormal punctate (speckled, dot-like) ca

The presence of abnormal punctate (speckled, dot-like) ca

Stippling of the epiphyses of the distal phalanges of the hand

Stippling of the epiphyses of the middle phalanges of the handStippling of the epiphyses of the proximal phalanges of the hand

The presence of abnormal punctate (speckled, dot-like) calStippling of the epiphysis of the distal phalanx of the 2nd toe

The presence of abnormal punctate (speckled, dot-like) calStippling of the epiphysis of the distal phalanx of the 3rd toe

The presence of abnormal punctate (speckled, dot-like) calStippling of the epiphysis of the distal phalanx of the 4th toe

The presence of abnormal punctate (speckled, dot-like) cal

Stippling of the epiphysis of the distal phalanx of the 5th toeStippling of the epiphysis of the distal phalanx of the hallux

The presence of abnormal punctate (speckled, dot-like) caStippling of the epiphysis of the middle phalanx of the 2nd fingerStippling of the epiphysis of the middle phalanx of the 2nd toe

The presence of abnormal punctate (speckled, dot-like) caStippling of the epiphysis of the middle phalanx of the 3rd toe

The presence of abnormal punctate (speckled, dot-like) caStippling of the epiphysis of the middle phalanx of the 4th toe

The presence of abnormal punctate (speckled, dot-like) caStippling of the epiphysis of the middle phalanx of the 5th toeStippling of the epiphysis of the proximal phalanx of the 2nd fingerStippling of the epiphysis of the proximal phalanx of the 2nd toe

The presence of abnormal punctate (speckled, dot-like) caStippling of the epiphysis of the proximal phalanx of the 3rd toe

The presence of abnormal punctate (speckled, dot-like) caStippling of the epiphysis of the proximal phalanx of the 4th toe

The presence of abnormal punctate (speckled, dot-like) caStippling of the epiphysis of the proximal phalanx of the 5th toeStippling of the epiphysis of the proximal phalanx of the hallux

The presence of abnormal punctate (speckled, dot-like) caThe presence of abnormal punctate (speckled, dot-like) cAn abnormally straight configuration of the clavicle, a tThe presence of streaks (bands) of abnormally increaseA foot deformity resulting due to an abnormality affecting

A partial dislocation affecting some or all of the `metacA partial dislocation of the proximal interphalangeal joint oA partial dislocation of some or all of the small joints of

Subperiosteal erosions due to secondary hyperparathyroidismPectus carinatum affecting primarily the superior part of

The presence of more than the normal number of metacThe presence of more than 12 rib pairs.

Three ossification sites are present in typical vertebral A swan neck deformity describes a finger with a hyperext

Extension of the proximal transverse crease (five finger Symphalangism affecting the distal phalanges of the toesSymphalangism affecting the distal phalanx of the 2nd toeSymphalangism affecting the distal phalanx of the 3rd toeSymphalangism affecting the distal phalanx of the 4th toeSymphalangism affecting the distal phalanx of the 5th toeSymphalangism affecting the distal phalanx of the halluxSymphalangism affecting the middle phalanges of the toesSymphalangism affecting the middle phalanx of the 2nd toeSymphalangism affecting the middle phalanx of the 3rd toeSymphalangism affecting the middle phalanx of the 4th toe

Symphalangism affecting the middle phalanx of the 5th toeFusion of the interphalangeal joints of the 2nd toe.

Symphalangism affecting the phalanges of the 3rd toeSymphalangism affecting the phalanges of the 4th toeSymphalangism affecting the phalanges of the 5th toeSymphalangism affecting the phalanges of the hallux

Fusion of two or more phalangeal bones of the hand.Symphalangism affecting the phalanges of the toesSymphalangism affecting the proximal phalanges of the handSymphalangism affecting the proximal phalanges of the toes

Fusion of the proximal phalanx of the 2nd finger with anSymphalangism affecting the proximal phalanx of the 2nd toe

Fusion of the proximal phalanx of the 3rd finger with anSymphalangism affecting the proximal phalanx of the 3rd toe

Fusion of the proximal phalanx of the 4th finger with anSymphalangism affecting the proximal phalanx of the 4th toe

Fusion of the proximal phalanx of the 5th finger with anSymphalangism affecting the proximal phalanx of the 5th toeSymphalangism affecting the proximal phalanx of the hallux

Fusion of the middle phalanx of the 2nd finger with anotFusion of the middle phalanx of the 3rd finger with anotFusion of the middle phalanx of the 4th finger with anotFusion of the middle phalanx of the 5th finger with anotFusion of a middle phalanx of a finger with another bone

Fusion of two or more bones of the 3rd finger.Fusion of two or more bones of the 4th finger.Fusion of two or more bones of the 5th finger.Fusion of the proximal phalanx of the 2nd finger with th

Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsalFusion of the proximal phalanx of the 3rd finger with the

Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsalFusion of the proximal phalanx of the 4th finger with the

Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsalFusion of the proximal phalanx of the 5th finger with the

Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsalCongenital fusion (ankylosis) of the interphalangeal jointWebbing or fusion of the fingers or toes, involving soft p

An abnormal union between bones or parts of bones of theAn abnormal union between bones or parts of bones of An abnormal union between bones or parts of bones low

An abnormal union between bones or parts of bones of t

Fusion of the 1st metacarpal with another bone. In contra

The carpus consists of the scaphoid, lunate, triquetal, pThe abnormal fusion of neighboring bones across a joint

Fusion of the second metacarpal-trapezoid.Synostosis of the proximal phalanx of the hallux with the 1st metatarsal

Fusion of the proximal phalanx of the thumb with the 1stFusion of a phalanx of the thumb with another bone.

A deformity of foot and ankle that has different subtypesTalipes calcaneovalgus is a flexible foot deformity (as opA congenital deformity characterized by a dorsiflexed, in

A deformity of foot and ankle in which the foot is bent Talipes equinovarus (also called clubfoot) typically has fOutward turning of the heel, resulting in clubfoot with th

A reduction in diameter of the `distal phalanx of finger`The gradual reduction in girth of the digit from proximal to

Metacarpal that becomes thinner toward the distal end.Phalanges of the fingers becoming thinner toward the diThe gradual reduction in girth of the digit from proximal toA reduction in diameter of the `distal phalanx of finger`

The presence of abnormal punctate (speckled, dot-like) cSynostosis (bony fusion) involving one or more bones of

Breakage (tear) of a tendon.The presence of xanthomas (intra-and extra-cellular accu`Amelia` (HP:0009827) of all four limbs.

An abnormal thickening of the `Achilles tendon` (FMA:5An `Abnormality of cortical bone` (HP:0003103) leading tAbnormal thickening of the cortex of long bones.Increased thickness (diameter) of ribs.

The `middle phalanx of finger` (FMA:75817) resembles a Abnormal thinning of the cortical region of bones.Abnormally reduced diameter (cross section) of the claviDecreased width of the diaphysis of long bones.

Ribs with a reduced diameter.Bending or curvature of a `third toe` (FMA:25051) in the ti`Calcification` (PATO:0001447), that is, pathological dep

Absence of one half of the vertebral body in the thoracic

Over curvature of the thoracic region, leading to a roundA flattened vertebral body shape with reduced distance b

A reduction of the distance between thoracolumbar verte

Hyperconvexity of the thoracolumbar spine producing

A bending or abnormal curvature of the `tibia` (FMA:244

Pseudarthrosis, or "false joint" of the tibia is the resulTibial torsion is inward twisting (`medial rotation`) (PA

Bending or curvature of a `toe` (FMA:25046) in the tibial dAtrophy of the extensor digitorum longus muscles, whichWebbing or fusion of the toes, involving soft parts only

Calcification (abnormal deposits of calcium) in the trache

A triangular appearance of the epiphyses of the 2nd fing

A triangular appearance of the epiphyses of the 3rd finge

A triangular appearance of the epiphyses of the 4th finge

A triangular appearance of the epiphyses of the 5th finge

Triangular epiphyses of the distal phalanges of the hand

A triangular appearance of the epiphyses of the metacarpTriangular epiphyses of the middle phalanges of the hand

A triangular appearance of the epiphyses of the phalangeTriangular epiphyses of the proximal phalanges of the hand

A triangular appearance of the epiphysis of the distal phaTriangular epiphysis of the distal phalanx of the 2nd toe

A triangular appearance of the epiphysis of the distal phaTriangular epiphysis of the distal phalanx of the 3rd toe

A triangular appearance of the epiphysis of the distal phaTriangular epiphysis of the distal phalanx of the 4th toe

A triangular appearance of the epiphysis of the distal phalTriangular epiphysis of the distal phalanx of the 5th toeTriangular epiphysis of the distal phalanx of the hallux

A triangular appearance of the epiphysis of the distal phTriangular epiphysis of the middle phalanx of the 2nd fingerTriangular epiphysis of the middle phalanx of the 2nd toe

A triangular appearance of the epiphysis of the middle phTriangular epiphysis of the middle phalanx of the 3rd toe

A triangular appearance of the epiphysis of the middle phaTriangular epiphysis of the middle phalanx of the 4th toe

A triangular appearance of the epiphysis of the middle phaTriangular epiphysis of the middle phalanx of the 5th toeTriangular epiphysis of the proximal phalanx of the 2nd fingerTriangular epiphysis of the proximal phalanx of the 2nd toe

A triangular appearance of the epiphysis of the proximal Triangular epiphysis of the proximal phalanx of the 3rd toe

A triangular appearance of the epiphysis of the proximal pTriangular epiphysis of the proximal phalanx of the 4th toe

A triangular appearance of the epiphysis of the proximal pTriangular epiphysis of the proximal phalanx of the 5th toeTriangular epiphysis of the proximal phalanx of the hallux

A triangular appearance of the epiphysis of the proximal

This term applies to a triangular shaped 1st metacarpal.

Triangular shaped distal phalanges of the hand

Triangular shaped distal phalanx of the 2nd finger. A triaTriangular shaped distal phalanx of the 2nd toe

Triangular shaped distal phalanx of the 3rd (middle) fingeTriangular shaped distal phalanx of the 4th (ring) finger.Triangular shaped distal phalanx of the 5th (little) finger

Triangular shaped distal phalanx of the 5th toe

Triangular shaped distal phalanx of the thumb. A triangulTriangular shaped middle phalanges of the handTriangular shaped middle phalanges of the toes

Triangular shaped middle phalanx of the 2nd finger. A triTriangular shaped middle phalanx of the 2nd toe

Triangular shaped middle phalanx of the 3rd (middle) finge

Triangular shaped middle phalanx of the 4th (ring) finger.Triangular shaped middle phalanx of the 5th (little) fingeTriangular shaped phalanges of the 2nd finger. A triangul

Triangular shaped phalanges of the 3rd finger. A triangula

Triangular shaped phalanges of the 4th finger. A triangula

Triangular shaped phalanges of the 5th (little) finger. A

Triangular shaped proximal phalanges of the handTriangular shaped proximal phalanges of the toes

Triangular shaped proximal phalanx of the 2nd finger. A tTriangular shaped proximal phalanx of the 2nd toe

Triangular shaped proximal phalanx of the 3rd (middle) finTriangular shaped proximal phalanx of the 4th (ring) fingeTriangular shaped proximal phalanx of the 5th (little) fin

Triangular shaped proximal phalanx of the halluxTriangular shaped proximal phalanx of the thumb.Abnormal shape of one or more phalanges of the thumb sAbsence of the triceps muscle.Hypoplasia of the triceps muscle.A hand in which the fingers are of nearly equal length and A thumb with three phalanges in a single, proximo-distal

Two carpal ossification centers present at birth

This type of brachydactyly is characterized by short andIn type E brachydactyly, shortening of the fingers is maiBending of the diaphysis (shaft) of the `ulna`(FMA:23466An abnormal hand position characterized by hyperextensio

Bending or curvature of a finger toward the ulnar side (i.Displacement of the 2nd (index) finger towards the ulnarDisplacement of the 3rd finger towards the ulnar side (i.eDisplacement of the 4th finger towards the ulnar side (i.eDisplacement of the 5th finger towards the ulnar side.Divergence of the longitudinal axis of the hand at the wrist

Ulnar deviation of the hand or of fingers of the hand

Bending or curvature of a thumb towards the ulnar side (

A dislocation of the head of the radius from its socket in

An abnormally wavy surface or edge of the clavicles.An abnormally wavy surface or edge of the ribs.A benign fluid filled simple cyst of bone filled with serous

Missing radius bone on one side only associated with conUnderdevelopment of the ulna on only one side.A chronic loss of wrist joint motion on one side only.A lack of `ossification` ( GO:0001503) of the `vertebral

Muscular atrophy involving the muscles of the upper limDifference in length or size between the right and left arIncreased width (breadth) of metaphyses of the arms.Underdevelopment of muscles of the arm.Pain in the arm with no clear focal etiology.`Peromelia` (HP:0009828) affecting only the upper limbs. Missing or malformed long bones of the upper limbs with tArm shortening because of underdevelopment of one or

Abnormal calcification of the `vasculature` (FMA:69050).A morphological abnormality of the `vertebral arch` (FMA:1Increase in bone density of the vertebral body.Schisis (cleft or cleavage) of vertebral bodies.

A developmental defect leading to the union of two adjaExcessive growth of the bones of the vertebral bodies.Small, underdeveloped vertebral bodies.

An abnormal shape of the vertebral bodies whereby the ve

Abnormally wide morphology of the `proximal epiphysis Increased width of the distal part of the shaft (metaphysi

Increased width of the `humeral diaphysis` (FMA:13305)

Increased width of the proximal part of the shaft (metaphAbnormally increased width of the pubic symphysis is the m

Increase in width (breadth) of the ulnar metaphysis.

An overall widening of the spaces between the digits.

An increase in the distance between vertebral pedicles, w

Abnormally increased width of the greater sacrosciatic nThe appearance of abnormal valgus deformity in one kneeA chronic loss of wrist joint motion due to structural ch

Y-shaped metacarpals are the result of a partial fusion Y-shaped metatarsals are the result of a partial fusion o

hump-shaped mound of bone in central and posterior portions of vertebral endplateIncreased bone density affecting the bones of the spine

A limited ability of the knee joint extension and flexion.

osteomyelitis leading to amputation due to slow healing fractures

Abnormality in the process of ejection of semen (usually

An abnormal pigmentation pattern of the external genitalA structural or developmental anomaly of any of the tissuAny structural anomaly of a reproductive cell.An anomaly in the volume of water filtered out of plasmaAn anomaly of the adnexa, uterus, and vagina (in femaleAn abnormal site of the `kidney` (FMA:7203).An `abnormal` (PATO:0000460) `functionality` (PATO:00A structural anomaly of a male reproductive cell.An abnormality of corticomedullary differentiation (CMDAny structural anomaly of the `kidney` (FMA:7203).An `abnormal` (PATO:0000460) `functionality` (PATO:00Anomaly of the folded ridges (wrinkles) of skin of the scAnomaly of primary or secondary sexual development or

A structural anomaly of `sperm`(CL:0000019).An anomaly of the mobility of ejaculated sperm.Incomplete maturation or aberrant formation of the malAb abnormal distribution of `N-acylglycines (CHEBI:16180) An abnormal color of the urine, that is, the color of the

A deviation from the normal odor of the urine.Abnormal concentration of `sulfate` (CHEBI:16189) in thA deviation from normal of the concentration of `2-oxoglAn abnormal concentration of `chloride` (CHEBI:17996) A deviation from normal of the concentration of `citrateAn anomalous finding in the examination of the urine for An abnormal concentration of magnesium the `urine` (Ab abnormal amount of urine production.An abnormal `phosphate` (CHEBI:18367) concentration iAn abnormal concentration of `potassium(1+)` (CHEBI:29An abnormal concentration of sodium in the `urine` (FMA structural anomaly of the secretory duct of the testicl

An abnormality of the `female external genitalia` (FMA:4An abnormality of the `female internal genitalia` (FMA:4An `abnormal` (PATO:0000460) `functionality` (PATO:00An abnormality of `male external genitalia` (FMA:45642)An abnormality of the `male internal genitalia` (FMA:456Any abnormality of the morphology of the `major calicesAn altered ability of the kidneys to void urine and/or speAn abnormality of `renal absorption` (GO:0070293).

An abnormality of the `urinary bladder` (FMA:15900).An abnormality of the `clitoris` (FMA:9909).An abnormality of the `epididymis` (FMA:18255).An abnormality of the `fallopian tube` (FMA:18245).Abnormality of the `female genital system` (FMA:45663)An abnormality of the `genital system` (FMA:7160).The presence of any abnormality of the `genitourinary A structural anomaly of the `glomerulus` (FMA:15624).An abnormality of the `kidney` (FMA:7203).An anomaly of the labia, the externally visible portions ofAn anomaly of the outer labia.An anomaly of the labia minora, the folds of skin betweenAn abnormality of the `lower urinary tract` (FMA:45659).Abnormality of the `male genital system` (FMA:45664).An abnormality of the `ovulation cycle` (GO:0042698).A structural anomaly of the `nephron` (FMA:17640).An abnormality of the `ovary` (FMA:7209).

An abnormality of the `prostate` (FMA:9600).An abnormality of the `renal artery` (FMA:14751).An abnormality of the `renal collecting system` (FMA:26

An abnormality of the `cortex of the kidney` (FMA:15581An abnormality of the `medulla of the kidney` (FMA:1558An abnormality of the `renal pelvis` (FMA:15575).An abnormality of the `renal tubules` (FMA:15627).

An anomaly of the testicle (the male gonad).An abnormality of the `upper urinary tract` (FMA:45658).Abnormality of the `urachus` (FMA:70343).An abnormality of the `ureter` (FMA:9704).An abnormality of the `urethra` (FMA:19667), i.e., of theAn abnormality of the `urinary system` (FMA:7159).

An anomaly of the neck of the uterus (lower part of the uAn abnormality of the `uterus` (FMA:17558).An abnormality of the `vagina` (FMA:19949).Abnormal concentration of `urate` (CHEBI:46819) in the An abnormality of the concentration of `hydrogencarbonAn abnormality of `calcium` (CHEBI:29108) concentratioAn abnormal level of urinary `catecholamine` (CHEBI:33An abnormality of the concentration of `glucose` (CHEBIAn abnormality of the composition of urine or the levels

A lack of differentiation between renal cortex and medulLack of external genitalia in a male or female individual.

Congenital absence of the scrotum.Lack of urothione (the urinary metabolite of molybdenum Aplasia (congenital absence) of the vas deferens.Spermatozoa with very small cranial ends devoid of any nEcretion of urine with an acid pH.Sudden loss of renal function, as manifested by decreaseAcute death of renal tubular cells that usually results fAcute inflammation of the kidney affecting the interstitiIncreased concentration of albumin in the urine.A genital phenotype that is not clearly assignable to a s`Ambiguous genitalia` (HP:0000062) in an individual wit`Ambiguous genitalia` (HP:0000062) in an individual wit

An increased concentration of an `amino acid` (CHEBI:3Inability to ejaculate.The presence of a fistula (abnormal tunnel) between th

Absence of urine, clinically classified as below 50ml/dayAplasia (absence) of the `urinary bladder` (FMA:15900).A failure to develop of the lower part of the vagina.`Aplasia` (MPATH:58), that is failure to develop, of the Absence of the testes.A failure to develop of the upper vagina.

`Aplasia` (MPATH:58) of the `uterus` (FMA:17558).`Aplasia` (MPATH:58) of the `vagina` (FMA:19949).Absence or underdevelopment of the `urinary bladder` `Aplasia` (MPATH:58) or developmental hypoplasia of th`Aplasia` (MPATH:58) or developmental hypoplasia of tAbsence or underdevelopment of the testes.`Aplasia` (MPATH:58) or developmental hypoplasia of tAbsence or developmental hypoplasia of the `uterus` (A increased concentration of `arginine` (CHEBI:29016) iLeukocyturia without bacterial growth upon urine cultureAn abnormality of the normal developmental rotation of tAbsence of any measurable level of sperm in his semenThe presence of bacteria in the urine.A `non-malignant` (PATO:0002096) `neoplasm` (MPATH:2The presence of `non-malignant` (PATO:0002096) `hyper

Abnormally increased concentration of `hydrogencarbonThe presence of a `bicornuate` (PATO:0002161) `uteruSeparation of the two halves of the scrotum, whereby cThe presence of a `bifid` (PATO:0001572) `uterus` (FMAbsence of both testes from the scrotum owing to failure oA `bilateral` (PATO:0000618) form of `fetal pyelectasis`A `bilateral` (PATO:0000618) form of `agenesis` (MPATHA two-sided form of `atrophy` (MPATH:127) of the `kidnA bilateral form of `developmental dysplasia` (MPATH:64Two sided `hypoplasia` (MPATH:133) of the `kidney` (FThe presence of a `carcinoma` (MPATH:549) of the `uri`Diverticulum` (MPATH:68) (sac or pouch) in the `wall o`Eversion` (PATO:0001597) of the `urinary bladder` (FMA:The presence of a `fistula` (MPATH:70) connecting the `urThe presence of a `neoplasm` (MPATH:218) of the `urinBuildups of minerals that form in the urinary bladder.The presence of complement 3 deposits in the glomerulThe presence of calcium-containing calculi (stones) in tThe presence of calcium- and oxalate-containing calculi The presence of calcium- and phosphate-containing calcuAn increased concentration of `carnosine` (CHEBI:15727The presence of a `germ cell tumor` (MPATH:310) of thAbnormal growth of endometrial cells (which are normally An `increased concentration` (PATO:0001162) of `chondrA condition in which the head of the penis curves downwA malignant, trophoblastic and aggressive cancer, usuallFunctional anomaly of the kidney persisting for at least Chronic inflammation of the kidney affecting the interstiA subtype of renal cell carcinoma thought to originate fr`Hypertrophy` (MPATH:159) of the `clitoris` (FMA:9909).Developmental hypoplasia of the `clitoris` (FMA:9909).`Increased size` (PATO:0000586) of the `clitoris` (FMA:A developmental anomaly associated with the failure of Cloacal exstrophy is a severe anterior abdominal wall de

Congenital lack of the `skin of prepuce of penis` (FMA:2

A developmental disturbance with extreme ureteral dilataCongenital mesoblastic nephroma is a type of kidney tumor Nephrotic syndrome with onset within the first three monthA developmental defect resulting in an obstructing membA mild form of hypospadias in which the urethra opens ju

The deposition of calcium salts in the parenchyma of theA type of extracapillary glomerulonephritis characterized bA developmental anomaly in which the kidneys are fused aAbsence of one or both testes from the scrotum owing to faThe presence of renal casts (cylindrical structures producAn elevated urinary concentration of `cystathionine` (C

An increased concentration of `cystine` (CHEBI:17376) iWhen the tough fibrous wall between a woman's bladder anAn increased concentration of `2-hydroxyglutaric acid`

An abnormal reduction in the volume of water filtered ouA reduction in the count of `nephrons` (FMA:17640) per

Decreased number or density of the folded ridges (wrinklReduced volume of the testicle (the male gonad).A decreased concentration of `potassium(1+)` (CHEBI:29Decreased concentration of `sulfate` (CHEBI:16189) in tDecreased concentration of `urate` (CHEBI:46819) in theA lower than normal concentration of `2-oxoglutaric aciA `decreased rate` (PATO:0000911) of urine production.First period after the age of 15 years.A type of membranoproliferative glomerulonephritis chaAn `increased concentration` (PATO:0001162) of `dermat

An increased concentration of `dicarboxylic acid` (CHEBDiffuse sclerosis of the `mesangium` (FMA:84139), as mThe presence of a `dilated` (PATO:0001571) `urinary bThe presence of `dilatation` (MPATH:66) of the `renal pDuplication of the penis.A displacement of the external urethral orifice from its nA type of renal tubular acidosis characterized by a failur

A duplication of the collecting system of the kidney.A duplication of the `renal pelvis` (FMA:15575).The presence of a `dysgerminoma` (MPATH:312), i.e., an

Painful or difficult `urination` (GO:0060073).A developmental defect in which a kidney is located in An abnormally increased level of kidney isoforms of `alAn increased concentration of `catecholamine` (CHEBI:3An increased concentration of `dopamine` (CHEBI:18243)An increased concentration of `adrenaline` (CHEBI:3356An increased concentration of `noradrenaline` (CHEBI:3An abnormally increased `diphosphate(4-)` (CHEBI:18361The presence of an embryonal neoplasm of the `kidney` (A carcinoma of the endometrium, the mucous lining of thAn abnormal increase in the size of the kidney.Increase in size of the folds of skin between the outer la

Lack of the ability to control the urinary bladder leadin`Enuresis` (HP:0000805) occurring during waking hours `Enuresis` (HP:0000805) occurring during sleeping hourThe presence of `inflammation` (MPATH:212) of the `epDisplacement of the urethral opening on the dorsal (super

Presence of erythrocyte casts (cylindrical structures prodAn increased concentration of `ethylmalonic acid` (CHEBPresence of `myoglobin` (CHEBI:7044) in the urine follUnderdevelopment of part or all of the external reproducA fluid filled sac located in the Fallopian tube.The presence of a supernumerary Fallopian tube.A twisting of the Fallopian tube. Sudden onset with sharThe presence of female external genitalia in a person wi`Decreased functionality` (PATO:0001624) of the female

Hermaphroditism refers to a discrepancy between the morpFetal megacystis is an abnormally enlarged bladder identMild pyelectasis is defined as a hypoechoic spherical oSegmental accumulation of scar tissue in individual (but n

Functional abnormality of male internal genitalia`Dysfunction` (PATO:0001641) of the `urinary bladder` Fusion of the labia minora as a result of labial adhesionsAn increased concentration of all types of `amino acid`

The presence of a `neoplasm` (MPATH:218) of the `genitCongenital occlusion of a tube in the genital tract.

A type of undifferentiated germ cell tumor that may be b

Complete and diffuse scarring of glomerulus.A type of proximal renal tubulopathy characterized by reAny structural anomaly of the acrosome resulting in a

Inflammation of the renal glomeruli.Inflammatory or noninflammatory diseases affecting the Accumulation of scar tissue within the glomerulus.An increased concentration of `glutaric acid` (CHEBI:17An `increased concentration` (PATO:0001162) of `glucoDeposition of calcium salts in gonadal tissue.

Unusual gonadal development in a person with a 46,XY maUnusual gonadal development in a person with a 46,XY ma

The presence of a `neoplasm` (MPATH:218) of a `gonaGonadal tissue inappropriate for external genitalia or chromosomal sex

The presence of a `gonadoblastoma` (MPATH:315), a `neSeverely increased levels of protein in the urine (1000-3The presence of blood in the urine. Hematuria may be groThe presence of free hemoglobin in the urine.

An abdominal mass formed by bleeding into a follicular oThe presence of hemosiderin in the urine.An `increased concentration` (PATO:0001162) of `heparaAn increased concentration of `histidine` (CHEBI:27570)An increased concentration of `homocystine` (CHEBI:174A connection of the right and left kidney by an isthmus oAccumulation of clear fluid in the between the layers ofSevere distention of the kidney with dilation of the renal The distention of the `ureter` (FMA:9704) with urine.An increased concentration of `4-hydroxy-L-proline` (CUnderdevelopment of the interstitial (Leydig) cells of the

An increased concentration of `chloride` (CHEBI:17996) A greater than normal concentration of `citrate(3-)` (CHEAn increase in amplitude of waves returned in ultrasonogAn increased concentration of `glycine` (CHEBI:15428 ) Reduced function of the gonads (testes in males or ovarAn increased concentration of `lysine` (CHEBI:25094) inAn increased concentration of magnesium the `urine` (

An increased concentration of `sodium(1+)` (CHEBI:2910Increased excretion of oxalates in the urine.An increased excretion of phosphates in the urine.Hypertrophy or overdevelopment of the interstitial (LeydigOvergrowth of the outer labia.An increased concentration of `threonine` (CHEBI:26986)

Abnormal enlargement of the `urinary bladder` (FMA:15An abnormally high level of `uric acid` (CHEBI:27226) inAn abnormally decreased `calcium` (CHEBI:29108) conceAn decreased concentration of `chloride` (CHEBI:17996)A lower than normal concentration of `citrate(3-)` (CHEBIA `decreased functionality` (PATO:0001624) of the `go

Hypogonadotropic hypogonadism is characterized by reducAn decreased concentration of magnesium the `urine` An abnormally decreased sodium concentration in the urAn abnormally decreased `phosphate` (CHEBI:18367) con

Underdevelopment of the `urinary bladder` (FMA:15900)Developmental hypoplasia of the `fallopian tube` (FMA:Developmental hypoplasia of the `ovary` (FMA:7209).

Underdevelopment of the `uterus` (FMA:17558).Developmental hypoplasia of the `vagina` (FMA:19949).Underdevelopment of part or all of the female external reUndergrowth of the outer labia.

Underdevelopment of part or all of the male external repDisplacement of the urethral opening on the ventral (inferAn abnormally low urinary specific gravity, i.e., reduced The presence of immunoglobulin A deposits in the glome

A defect in the ability to concentrate the urine.A reduction in the ability of the kidneys to remove uric aInability to develop or maintain an erection of the penis.

An abnormal rise in the volume of water filtered out of pIncreased renal tubular phosphate reabsorption

Increased number or density of the folded ridges (wrinkleAn increased concentration of `potassium(1+)` (CHEBI:2Elevated concentration of `sulfate` (CHEBI:16189) in theIncreased concentration of `sulfate` (CHEBI:17359) in thIncreased concentration of `taurine` (CHEBI:15891) in tIncreased concentration of `thiosulfate(2-)` (CHEBI:16094Elevanted concentration of `urate` (CHEBI:46819) in the A greater than normal concentration of `2-oxoglutaric a

Presence of persistent islands of renal blastema in the pA type of nephrogenic rest usually representing single lesAn `increased concentration` (PATO:0001162) of `kerataHigh levels of ketone bodies in the urine.

An increased concentration of `lactic acid` (CHEBI:28358Presence of leukocyte casts (cylindrical structures produThe presence of a `neoplasm` (MPATH:218) of the `testis

The presence of a longitudinal vaginal septum, thereby cAn abnormally reduced level of kidney isoforms of `alkaExcretion in urine of proteins of a size smaller than alb

The presence of abnormally large testes.

Hematuria that is visible upon inspection of the urine.`Decreased functionality` (PATO:0001624) of the male gon

Hermaphroditism refers to a discrepancy between the morThe presence of a `malignant` (PATO:0002097) `neoplas

The deposition of calcium salts in the parenchyma of theA nonobstructive dilatation of the renal `major calices` Dilatation of the bladder postnatally.Proliferation of mesangial cells, increase in the mesangiaA type of glomerulonephropathy characterized by thickAbnormally heavy and prolonged menstrual period.

An abnormality of the `mesangium` (FMA:84139), i.e., of Increased numbers of mesangial cells per glomerulus.Increased concentration of `methylmalonic acid` (CHEBI:

The presence of mildly increased concentrations of albumAbnormally small `penis` (FMA:9707). At birth, the normalMicroscopic hematuria detected by dipstick or microscopiThe presence of microscopic crystalline calcium precipitHypospadias with location of the urethral meatus in the Mildly increased levels of protein in the urine (150-500 mThe presence of minimal changes visible by light microsModerately increased levels of protein in the urine (500Excessive amounts of `mucopolysaccharide` (CHEBI:3739Multicystic dysplasia of the kidney is characterized by mA form of nephrotic syndrome that does not respond toPresence of a many `diverticula` (MPATH:68) (sac or pouThe presence of many cysts in the glomerulus of the kidnThe presence of many cysts in the kidney.The presence of many cysts in the `medulla of the kidnPresence of `myoglobin` (CHEBI:7044) in the urine.A `Neoplasia` (HP:0002664) of the `Male external genita

The presence of a `neoplasm` (MPATH:218) of the `genThe presence of a `neoplasm` (MPATH:218) of the `uretThe presence of a `neoplasm` (MPATH:218) of the `ureThe presence of `inflammation` (MPATH:212) affecting The presence of a `nephroblastoma` (MPATH:261), which iPresence of persistent islands of renal blastema in theNephrocalcinosis is the deposition of calcium salts in rAbnormally persistent clusters of embryonal cells, repreThe presence of calculi (stones) in the kidneys.Presence of cysts at the corticomedullary junction of the kA nonspecific term referring to disease or damage of theA significant descent of the kidney as the patient moves

Nephrosclerosis refers to thickening or scarring ("sclerosiSeverely increased amount of excretion of protein in thNephrotic syndrome is a collection of findings resulting An inability to completely empty the `urinary bladder` (

Abnormally increased production of urine during the nighA type of proximal renal tubulopathy characterized by reAbsence of any measurable level of sperm in his semen, rA lack of mobility of ejaculated sperm.Absence of any measurable level of sperm in his semen, reInfrequent periods (less than 6 per year).Reduced count of spermatozoa in the semen, defined as aLow output of urine, clinically classified as an output bTesticular inflammation.Excretion of non-amino organic acids in urine.An increased concentration of `ornithine` (CHEBI:18257) The presence of one or more `cysts` (MPATH:62) of theThe presence of a `fibroma` (MPATH:407) of the `ovaryThe presence of a `gonadoblastoma` (MPATH:315) of thThe presence of a `neoplasm` (MPATH:218) the `ovary`The presence of a `papillary adenocarcinoma` (MPATH:2A cystic tumor of the ovary, containing thin, clear, yelloThe presence of a `teratoma` (MPATH:322) in the ovary

A gonad that contains both ovarian follicles and testiculThe presence of a `papillary cystadenoma` (MPATH:298)The presence of `renal cell carcinoma` (HP:0005584) in A type of papillary renal cell carcinoma that is characteriA type of papillary renal cell carcinoma in which the papiThe foreskin becomes trapped behind the glans penis, andAn increase in the reabsorption of calcium by the renal

The presence of a partially duplicated kidney.Persistence of the urachal canal resulting in a canal beA developmental defect in which a kidney is located in aLocation of the urethral opening on the inferior aspect ofA severe form of hypospadias in which the urethral openiA partial or complete positional exchange between the pAbnormally persistent foci of embryonal immature blastemaA type of nephrogenic rest associated with multiple lesionThe presence of a `fistula` (MPATH:70) between the `bHypospadias with location of the urethral meatus in the pInflammation of the connective and adipose tissues surrDevelopmental anomaly in which the vagina, bladder, anThe male foreskin cannot be fully retracted from the headAn increased concentration of ` phosphoethanolamine` Increased frequency of urination.The presence of multiple cysts in both kidneys.

An `increased rate` (PATO:0000912) of urine production

The emission of semen and seminal fluid during the act of Premature ovarian failure is characterized by amenorrhPresence of a teratoma anterior to the sacrum.Absence of any measurable level of sperm in his semen,A painful and harmful medical condition in which the erect

Malfunctioning of the ovaries such that a girl never begi

An increased concentration of `proline` (CHEBI:26271) i

Increased size of the ridge of tissue that extends along A cancer of the `prostate` (FMA:9600).

The presence of `inflammation` (MPATH:212) of the `prIncreased levels of protein in the urine.A type of renal tubular acidosis characterized by a failDysfunction of the proximal tubule, which is the portionAn inflammation of the `kidney` (FMA:7203) involving tPresence of an increased number of neutrophils in the uThe presence of a `fistula` (MPATH:70) affecting the `rA Rectocele results from a tear in the rectovaginal septuThe presence of a `fistula` (MPATH:70) between the `pThe presence of a `fistula` (MPATH:70) between the `vRepeated infections of the urinary bladder.Recurring episodes of myoglobinuria, i.e., of the presencRepeated episodes of pyelonephritis.Repeated infections of the urinary tract.A reduction of the ratio of renal calcium clearance to crReduced differentiation between renal cortex and medullAn abnormal reduction in the mobility of ejaculated sperAn inability of the tubules in the kidney to reabsorb sma`Agenesis` (MPATH:57), that is, failure of the `kidneyAn increased concentration of an `amino acid` (CHEBI:337A form of `amyloidosis` (HP:0011034) that affects the `A benign renal neoplasm composed of fat, vascular, anThe presence of `stenosis` (MPATH:80) of the `renal ar`Atrophy` (MPATH:127) of the `kidney` (FMA:7203).High urine calcium in the presence of hypocalcemia.A type of `carcinoma` (MPATH:549) of the `kidney` (FMA:High urine chloride in the presence of hypochloridemia.The presence of an `adenoma` (MPATH:270) in the `cort`Atrophy` (MPATH:127) of the `cortex of the kidney` (FCysts of the `cortex of the kidney` (FMA:15581).Cysts of microscopic size confined to the `cortex of theThe presence of multiple cysts at the border between thA fluid filled sac in the kidney.

Cystic, urine-containing intrarenal cavities lined with trA congenital anomaly of the urinary tract, in which the `The presence of `developmental dysplasia` (MPATH:64) A disordered proliferation of mature tissues that are nati`Hypoplasia` (MPATH:133) of the `kidney` (FMA:7203).Absence or underdevelopment of the kidney.A reduction in the level of performance of the kidneys iIncreased number and size of the juxtaglomerular cells.High urine magnesium in the presence of hypomagneseAn abnormality of the normal developmental rotation of tThe presence of a `neoplasm` (MPATH:218) of the `kidA renal tumor originating from an oncocyte, which is an The presence of a `carcinoma` (MPATH:549) in the `renaHigh urine phosphate in the presence of hypophosphateHigh urine potassium in the presence of hypokalemia.A high concentration of one or more electrolytes in the uA `sarcoma` (MPATH:551) of the `kidney` (FMA:7203).An abnormally increased sodium concentration in the uriAbnormal fat accumulation in the kidneys.Acidosis owing to malfunction of the kidney tubules with

A developmental defect characterized by absence or pooThe presence of `hypertension` (HP:0000822) related to Difficulty of a male in achieving orgasm.A testis that is located at the upper scrotum or lower inThe emission of semen and seminal fluid into the bladdeAcute renal failure with resolution of manifestations.Increased pigmentation (skin color) of the scrotum.

Hypospadias with location of the urethral meatus in the

The presence of a vaginal septum, thereby creating a vagiThe presence of a `neoplasm` (MPATH:218) of the `testis`Development of the reproductive system is inconsistentA condition in which the upper scrotal skin rises over thePresence of a single `diverticulum` (MPATH:68) (sac or pAn isolated cyst of the kidney.

A structural abnormality of the sperm head.A structural abnormality of the sperm mid-piece.A structural abnormality of the sperm neck.A structural abnormality of the sperm tail.A type of chronic kidney disease with normal or increaseA type of chronic kidney disease with mildly reduced gloA type of chronic kidney disease with moderately reduceA type of chronic kidney disease with severely reduced A degree of kidney failure severe enough to require dialyA form of nephrotic syndrome that does not respond to tA developmental disorder characterized by the progressiv

In voluntary urine leakage synchronous with exertion, orThe presence of more than two testes.The presence of a `teratoma` (MPATH:322).Wasting (atrophy) of the testicle (the male gonad) manifes

Formation of excess connective tissue in the testicle.The presence of a `gonadoblastoma` (MPATH:315) of theA `Malignant mesothelioma` (HP:0100001) of the `testisThe deposition of calcium phosphate microliths within thThe presence of a `neoplasm` (MPATH:218) of the `testThe presence of a `seminoma` (MPATH:317), an undiffereThe presence of a `teratoma` (MPATH:322) of the `testiTesticular torsion is when the spermatic cord to a testicIncrease in thickness of the basal lamina of the glomerulReduction in thickness of the basal lamina of the glomeru

The presence of a `carcinoma` (MPATH:549) of the `urinar

Increased concentration of `trimethylamine` (CHEBI:1813The presence of both ovarian and testicular tissues eiAn increased concentration of `tryptophan` (CHEBI:27897The presence of renal tubules with thick redundant basDIsruption and breaking up of the basement membrane ofAn abnormality that involves the tubules and interstitial tFibrosis that involves the tubules and interstitial tissue oA form of inflammation of the kidney affecting the interstAbsence of a testis from the scrotum on one side owing toA `unilateral` (PATO:0000634) form of `agenesis` (MPATA `unilateral` (PATO:0000634) form of `atrophy` (MPATHA `unilateral` (PATO:0000634) form of `developmental dOne sided `hypoplasia` (MPATH:133) of the `kidney` (FA cyst located along the allantois canal.Persistence of the urachal canal with drainage of urine fA complete duplication of the ureter such that the duplicA partial duplication of the ureter such that the duplicateFailure of the ureter to undergo development.The presence of `atretic` (PATO:0001819) `ureter` (FMAA developmental anomaly characterized by the presence oA developmental anomaly of the ureter.Obstruction of the flow of urine through the `ureter` (FMThe presence of a stenotic, i.e., `constricted` (PATO:00

A ureterocele is a congenital saccular dilatation of the diBlockage of urine flow from the renal pelvis to the proxim

Congenital anomaly characterized by closure or failure tCongenital anomaly characterized by closure or failure tCongenital anomaly characterized by closure or failure tThe presence of a diverticulum (sac or pouch) in the wall

The presence of an abnormal connection between the ureObstruction of the flow of urine through the `urethra` (

Abnormal narrowing of the urethra.Narrowing of the urethra associated with inflammation orThe presence of an abnormal membrane obstructing theThe prolapse of the female urethra into the vagina.The presence of a `fistula` (MPATH:70) between the `vThe presence of uric acid-containing calculi (stones) in

`Inflammation`(MPATH:212) of the `urinary bladder` (FAbnormal function of a sphincter of the `urinary bladderExcretion of `glycosaminoglycan` (CHEBI:18085) in the Difficulty in beginning the process of `urination` (GO:00Loss of the ability to control the `urinary bladder` (FMAInability to completely empty the `urinary bladder` (FMACongenital absence of the normal opening of a structure oThe presence of a `neoplasm` (MPATH:218) of the `urinUrge incontinence is the strong, sudden need to urinate.The presence of a `fistula` (MPATH:70) affecting the `gA rare birth defect in women where the urethra and vagThe presence of a `leiomyoma` (MPATH:425) of the `utThe presence of a `leiomyosarcoma` (MPATH:426) of thA `neoplasm` (MPATH:218) of the `uterus` (FMA:17558)The presence of `prolapse` (MPATH:626) of the `uterus

A malformation of the `uterus` (FMA:17558) in which the uCongenital occlusion of the vagina or adhesion of the waThe presence of a `fistula` (MPATH:70) of the `vagina`

The presence of a `hernia` (MPATH:75) of the `vagina`

The presence of a `neoplasm` (MPATH:218) of the `vag

Varicosity of veins in the vulval region.A condition which is considered to be due to the subsequeA varicocele is a widening of the veins along the spermatiReduction in length of the ventral (lower) `skin of prepuAbnormal (retrograde) movement of urine from the bladderThe presence of a `fistula` (MPATH:70) connecting the The presence of xanthine-containing calculi (stones) in t

Increased concentration of `4-hydroxyphenylacetic acid`Increased concentration of `(4-hydroxyphenyl)pyruvic acAn absence of `low-density lipoprotein cholesterol` (CHAn increased or decreased activity of the `mitochondrialDeviation from normal concentration of `albumin` (PR:0An abnormal concentration of aldolase in the serum. Al

An abnormal concentration of `creatinine` (CHEBI:16737Any anomaly in the utilization of energy (calories).An altered ability of any enzyme or their cofactors to act An anomaly of the addition of fucose sugar units to O-liAn anomaly of the addition of fucose sugar units to N-liAbnormality of `glucose homeostasis` (GO:0042593).An `abnormal` (PATO:0000460) `resistance to` (PATO:00010An anomaly of a `glycosylation` (GO:0070085) process, i.An anomaly in the processes involved in the maintenance

Glycosylated transferrin concentrations can be measured An anomaly of the addition of mannose to N-linked glycaAn abnormality of the mitochondria in muscle tissue.Any structural anomaly of the mitochondria.A deviation from the normal number of mitochondria per An anomaly in the surface contour of mitochondria.A type of `Abnormal glucose tolerance` (HP:0001952) obsAn anomaly of `protein N-linked glycosylation` (GO:000648An anomaly of `protein O-linked glycosylation` (GO:000649An anomaly of a `protein glycosylation` (GO:0006486) proceAn anomaly of the addition of sialic acids to N-linked glyAn anomaly of the addition of sialic acids to O-linked glyAn abnormality of the process of `DNA repair` (GO:00062An abnormality of the `tricarboxylic acid cycle` (GO:000An abnormality of acylcarnitine, which is produced by reveAn abnormality of the balance or maintenance of the balaAn abnormality of an `alanine metabolic process` (GO:0An abnormality of `alkaline phosphatase activity` (GO:0Abnormality of an `amino acid metabolic process` (GO:An abnormality of a `arginine metabolic process` (GO:0An abnormality of a `aromatic amino acid family metaboAbnormality of a `aspartate family amino acid metaboliAn abnormality of the concentration of `glucose` (CHEBIAbnormality of a `branched chain family amino acid metAn abnormality of `calcium ion homeostasis` (GO:00550

An abnormality of the metabolism/homeostasis of a `caAn abnormality of the metabolism of a `carboxylic acid`An abnormality of `carnitine` (CHEBI:17126) metabolismAn abnormality of `cation homeostasis` (GO:0055080).An abnormality in a `cellular process` (GO:0009987).

An abnormality of `chloride` (CHEBI:17996 homeostasis

An abnormality of `chromosome condensation` (GO:003An abnormality of `chromosome segregation` (GO:0007A type of chromosomal aberration characterized by an in

An abnormal level of a circulating `protein` (CHEBI:1654Abnormality of a metabolism or concentration of `citrull

An `abnormal` ( PATO:0000460) `concentration` (PATO:An anomaly of the concentration or homeostasis of `creatiAn abnormality of a `cysteine metabolic process` (GO:0An abnormality of `dicarboxylic acid` (CHEBI:35692) meAn abnormality of `divalent inorganic cation homeostasAn abnormality of `fatty acid anion` (CHEBI:28868) metAn abnormality of `fatty acid` (CHEBI:35366) metabolisAn abnormality of the `regulation of body fluids` (GO:00An abnormality of the metabolism of `folic acid` (CHEBIAbnormality of `galactoside` (CHEBI:24163) metabolismAbnormality of `ganglioside` (CHEBI:28892) metabolismAn abnormality of a `glutamine family amino acid metabAn abnormality of a `glutamine metabolic process` (GOAn abnormality of a `glycine metabolic process` (GO:00An abnormality of `glycolipid` (CHEBI:33563) metabolisAn abnormality of `glycolysis` (GO:0006096).An abnormality of a `glycoprotein metabolic process` (Abnormality of `glycosaminoglycan` (CHEBI:18085) metAbnormality of `glycoside` (CHEBI:24400) metabolism.An abnormality of `glycosphingolipid` (CHEBI:24402) meAn abnormality of a `histidine family amino acid metaboAn abnormality of `histidine metabolic process` (GO:000An abnormality of a `homocysteine metabolic process` Abnormality of the homeostasis (concentration) of a `mAn abnormality of the homeostasis (concentration) of `iAn abnormality of a `isoleucine metabolic process` (GOAbnormality of a `leucine metabolic process`(GO:000655An abnormality in the of `lipid` (CHEBI:18059) metaboliAn abnormality of `liposaccharide` (CHEBI:35740) metaAn abnormality of `long-chain fatty acid` (CHEBI:15904)An abnormality of a `lysine metabolic process` (GO:000

An abnormality of `magnesium ion homeostasis` (GO:00

An abnormality of `methionine metabolic process` (GO:A functional anomaly of mitochondria.An abnormality of `monocarboxylic acid` (CHEBI:25384)An abnormality of `monovalent inorganic cation homeosAn abnormality of the metabolism of `mucopolysacchariThe presence of an abnormal concentration of `nitrogAn abnormality of a `nucleobase metabolic process` (GAbnormality of a metabolism or concentration of `ornithAn abnormality of the metabolism of `orotic acid` (CHEBAn abnormality of `L-phenylalanine metabolic process`An abnormality of `phosphate` (CHEBI:26020) homeostasiAn abnormality of `phytanic acid` (CHEBI:16285) metaboAn abnormality of the metabolism of `polysaccharide` (An abnormal concentration of `potassium` (CHEBI:29103An abnormality of a `proline metabolic process` (GO:00An abnormality of `prostaglandin` (CHEBI:26333) metab

An abnormality of `proteoglycan` (CHEBI:37396) metabo

An abnormality of a `pyrimidine base metabolic processAn abnormality of a `pyruvate family amino acid metaboAn abnormality of the metabolism of `sarcosine` (CHEBIAn abnormality of a `serine family amino acid metaboliAn abnormality of a `serine` (CHEBI:17822) metabolismThe presence of an abnormal decrease or increase of oneAn abnormal concentration of `sodium` (CHEBI:29101).An abnormality of a `sulfur amino acid metabolic proce

An abnormality of `temperature homeostasis` (GO:0001An abnormality of the `cell cycle` (GO:0007049).An abnormality in the synthesis or catabolism of heme.

An abnormal increase or decrease in the level of `lipoprAn anomaly of the `mitochondrion` (FMA:63835), the membr

Abnormality of a `threonine metabolic process` (GO:000An abnormality of the homeostasis (concentration) of `tAn abnormality of `tryptophan metabolic process` (GO:An abnormality of a `tyrosine metabolic process` (GO:0An abnormality of `unsaturated fatty acid` (CHEBI:2720An abnormality of a `valine metabolic process` (GO:000

Vitamin K is a fat-soluble vitamin with a role in promoti

An abnormality of a `xanthine metabolic process` (GO:0An abnormality of `zinc ion homeostasis` (GO:0055069).A decrease in alkaline phosphatase activity measured witAbnormal acid accumulation or depletion of base.An increased concentration of `ammonia` (CHEBI:16134)Sudden onset of impairment in ventilation such that the A reduction in `aldehyde oxidase activity` (GO:0004031)Depletion of acid or accumulation base in the body fluidsThe presence of `amyloid deposition` (MPATH:34) in one An extreme form of generalized edema with widespread anExcretion of excess amounts of aspartylglucosamine in tAn increased concentration of `ammonia` (CHEBI:16134)Absence of transferrin, a protein that transprot iron, in t

An increased concentration of `nitrogen compounds` (CMetachromasia (also known as metachromacy) is a charactAmyloid deposition in the walls of leptomeningeal and cortIncreased amount of chromosomal breaks in cultured blo

Increased amount of chromosomal breaks in cultured blooLongstanding abnormal acid accumulation or depletion oA `chronic` (PATO:0001863) form of `lactic acidemia` (Longstanding metabolic acidosis.Longstanding impairment in ventilation such that the pa

A form of `lactic acidemia` (HP:0003128) with `congenit

An `intracellular accumulation of autofluorescent lipopThe presence of `amyloid deposition` (MPATH:34) in the An increased concentration of `cystathionine` (CHEBI:17

A reduction in the activity of the ` mitochondrial protA reduction in the activity of the `mitochondrial respiratA reduction in the activity of the `mitochondrial respiratA reduction in the activity of the `mitochondrial respiratA reduction in the activity of the `mitochondrial respiraDecreased activity of the `mitochondrial respiratory cha

Decreased activity of the pyruvate dehydrogenase (PDH) complexDecreased concentration of `adenosylcobalamin` (CHEBI:Abnormally `decreased rate` (PATO:0000911) of `beta-g

Decreased beta-glucocerebrosidase protein and activityDecreased addition of fucose sugar units to N-linked glyA reduction of the addition of fucose sugar units to O-liAn `abnormality of Krebs cycle metabolism` (HP:0000816A reduction in the amount of galactose residues of N-glA `decreased rate` (PATO:0000911) of `glucose-6-phospReduced addition of mannose to N-linked glycans.A reduction in `methionine synthase activity` (GO:00087Decreased concentration of `methylcobalamin` (CHEBI:2An `abnormality of Krebs cycle metabolism` (HP:0000816A decreased concentration of `carnitine` (CHEBI:17126) A decreased concentration of free (unbound) `carnitine`A decreased concentration of total `carnitine` (CHEBI:1

A `decreased rate` (PATO:0000911) of `pyruvate carboxyAn reduction in the number of calories used per unit timeA kind of `Abnormality of copper homeostasis` (HP:0010An abnormally reduced amount of `creatinine` (CHEBI:16Abnormally reduced concentration of ferritin, a ubiquitous Decreased addition of sialic acids to N-linked glycans.An reduced addition of sialic acids to O-linked glycans.A below normal level of saturation of serum transferrin wi

Defective DNA repair after ultraviolet radiation damageDefective dehydrogenation of isovaleryl CoA and butyryl CoADeficiency of N-acetylglucosamine-1-phosphotransferase

Deficient excision of UV-induced pyrimidine dimers in DNA

An abnormal accumulation of fluid beneath the skin, or iAn abnormal accumulation of fluid beneath the skin on thAn abnormal accumulation of fluid beneath the skin on tAn abnormal accumulation of fluid beneath the skin of thAn abnormal accumulation of fluid beneath the skin of t

Electron transfer flavoprotein-ubiquinone oxidoreductase defectElevated `7-dehydrocholesterol` (CHEBI:17759) levels.

An abnormal elevation of the C-reactive protein level inAn increased concentration of fructose 1,6-bisphosphatAbnormally increased serum levels of `alkaline phosphatAn abnormally increased level of bone isoforms of `alkaAn abnormally increased level of liver isoforms of `alkAn `increased concentration` (PATO:0001162) of `alphaAn elevation of alpha-feto protein measured in the amniot

An increased level of iron in liver tissues.An abnormally increased level of `alkaline phosphatase,An increased concentration of `cystine` (CHEBI:17376) witAn increased alkaline phosphatase activity measured witAn abnormal elevation of `phytanic acid` (CHEBI:16285)Increased concentration of `long-chain fatty acid` (CHEBAn elevation of alpha-feto protein in the maternal serum.An abnormally increased level of `alkaline phosphatase,An increased concentration of a `branched chain amino An increased concentration of `citrulline` (CHEBI:18211)An abnormally increased `diphosphate(4-)` (CHEBI:18361

An elevation of the level of the enzyme creatine kinaseAn increased amount of `creatinine` (CHEBI:16737) in tAn increased concentration of chloride in the sweat.An abnormally increased level of `alkaline phosphatase,An above normal level of saturation of serum transferrin An increased concentration of 5-aminolevulinic acid (CHAn `increased concentration` (PATO:0001162) of `homovaAn `increased concentration` (PATO:0001162) of `vanillAn increase in the number of chromosome sets per cell

Periodic (episodic or recurrent) bouts of fever.An abnormally decreased `potassium` (CHEBI:29103) conceIntermittent episodes of ketoacidosis.Repeated transient episodes of metabolic acidosis, that i

A form of `lactic acidemia` (HP:0003128) that occurs follElevated body temperature due to failed thermoregulatioIncreased cytoplasmic staining of fibroblasts with toluidiAn `intracellular accumulation of autofluorescent lipopi

A reduced concentration of `folic acid` (CHEBI:27470), The presence of a folate sensitive fragile site at chromA detrimental reaction to a food, beverage, food addit

Elevated concentration of `galactose` (CHEBI:28260) in A serious and potentially life-threatening condition thatA `diffuse` (PATO:0001513) form of `amyloidosis` (HP:Generalized abnormal accumulation of fluid beneath the s

An increased concentration of `glutaric acid` (CHEBI:17

A detrimental reaction to the presence of gluten in foodIncreased excretion of `glycopeptides` (CHEBI:24396) in

The inability to maintain a comfortably body temperatureAn `increased concentration` (PATO:0001162) of non `cAn increased concentration of `hydroxyproline` (CHEBI:An increased concentration of `alanine` (CHEBI:16449) iElevation in the concentration of `albumin` (PR:0000039An elevated concentration of `high-density lipoprotein An increased concentration of `ammonia` (CHEBI:16134)Hyperapobetalipoproteinemia is defined as the combinatioIncreased concentration of `beta-alanine` (CHEBI:16958)An elevated concentration of `low-density lipoprotein chAn increased amount of `bilirubin` (CHEBI:16990) in theAn abnormally increased `calcium` (CHEBI:29108) concenAn abnormally increased `chloride` (CHEBI:17996) concen

An increased concentration of `cholesterol` (CHEBI:1611Increased plasma concentrations of chylomicrons, the largeElevated concentration of `galactose` (CHEBI:28260) in An increased concentration of `glutamine` (CHEBI:28300An `increased concentration` (PATO:0001162) of `glucoAn elevated concentration of `glycine` (CHEBI:15428) inAn increased concentration of `histidine` (CHEBI:27570)An increased concentration of `homocystine` (CHEBI:174An increased concentration of `isoleucine` (CHEBI:24898An abnormally increased `potassium` (CHEBI:29103) conc

An increased concentration of `leucine` (CHEBI:25017) iAn elevated `lipid` (CHEBI:18059) concentration in the An abnormal increase in the level of `lipoprotein cholesAn increased concentration of `lysine` (CHEBI:25094) inAn abnormally increased `magnesium` (CHEBI:18420) conAn increased concentration of `methionine` (CHEBI:1681An abnormally increased `sodium` (CHEBI:29101) concentIncreased concentration of `ornithine` (CHEBI:18257) in

An increased concentration of `L-phenylalanine` (CHEBIAn abnormally increased `phosphate` (CHEBI:18367) conAn increased concentration of `proline` (CHEBI:26271) iAn increased concentration of `prostaglandin` (CHEBI:26An `increased concentration` (PATO:0001162) of `proteiAn elevated plasma concentration of `sarcosine` (CHEBAn elevated urinary concentration of `sarcosine` (CHEBIAn increased concentration of `threonine` (CHEBI:26986

An abnormal increase in the level of `triglycerides` (CHAn increased concentration of `tyrosine` (CHEBI:18186) An abnormally high level of `uric acid` (CHEBI:27226) inAn increased concentration of `valine` (CHEBI:27266) inReduction in the concentration of `albumin` (PR:000003An decreased concentration of `high-density lipoproteinA decreased concentration of `ammonia` (CHEBI:16134) A decreased concentration of `arginine` (CHEBI:29016) An decreased concentration of `low-density lipoprotein An abnormally decreased `calcium` (CHEBI:29108) conceAn abnormally decreased `chloride` (CHEBI:17996) conce

An decreased concentration of `cholesterol` (CHEBI:161A reduced concentration of `copper` (CHEBI:28694) in tA `decreased concentration` (PATO:0001163) of `glucosAn abnormally reduced concentration of `glycine` (CHEBAn abnormally decreased `potassium` (CHEBI:29103) con

A `decreased concentration` (PATO:0001163) of `glucoseAn abnormal decrease in the level of `lipoprotein cholesAn abnormally decreased `magnesium` (CHEBI:18420) coA decreased concentration of `methionine` (CHEBI:16811An abnormally decreased `sodium` (CHEBI:29101) concenAn abnormally decreased `phosphate` (CHEBI:18367) conA `decreased concentration` (PATO:0001163) of `proteiAn abnormal accumulation of fluid beneath the skin, or Reduced concentration of `serine` (CHEBI:17822) in theReduced body temperature due to failed thermoregulatioAn decrease in the level of `triglycerides` (CHEBI:17855An abnormally low level of uric acid in the blood.An impairment of `gluconeogenesis` (GO:0006094).

An impairment of a `fructose metabolic process` (GO:00An impairment of `galactose metabolism` (GO:0006012)An increased amount of nitrogen in the form of `urea` (

An increase in the amount of `very-low-density lipoproteAn increased concentration of `protoporphyrins` (CHEBI:Increased addition of fucose sugar units to N-linked glyc

Increased addition of fucose sugar units to O-linked glyAn abnormally increased `sodium` (CHEBI:29101) concenIncreased addition of mannose to N-linked glycans.

Increased phosphoribosylpyrophosphate (PRPP) synthetase

An increased rate of `premature` (PATO:0000694) `chAn increase in the number of calories used per unit timeAn abnormally increased sensitivity to the effects of ioniz

Abnormal raised concentration of ferritin, a ubiquitous intrAn `increased rate` (PATO:0000912) of `iduronate-2-sulf

Abnormally increased level of blood `lactate` (CHEBI:2An increased concentration of `prostaglandin E2` (CHEBIAn `increased concentration` (PATO:0001162) of `pyruvAn increased consentration of zinc in the `blood` (FMA:Increased addition of sialic acids to N-linked glycans.An increase in the number of spontaneous sister chromatIncreased concentration of total (conjugated and unconjugExcretion of peptides conjugated to `sialic acid` (CHEBI:An `increased concentration` (PATO:0001162) of `coppeIncreased concentration of `disaccharide` (CHEBI:36233)An increased level of `hypoxanthine` (CHEBI:17368) in Increased concentration of `porphobilinogen` (CHEBI:173

`Decreased sensitivity toward` (PATO:0001550) `insuli`Increased resistance` (PATO:0001650) towards `insulin` Episodes of reduced body termperature.An `intermittent (discontinuous)` (PATO:0000690) form o

`Curvilinear intracellular accumulation of autofluoresceThe intracellular accumulation of autofluorescent storageAcidosis resulting from accumulation of ketone bodies.Presence of elevated levels of ketone bodies in the bodyLow blood glucose is accompanied by elevated levels of An abnormal buildup of `lactic acid` (CHEBI:28358) in theExcess deposit and expansion of `adipose tissue` (FMA:2

Long chain 3 hydroxyacyl coA dehydrogenase deficiencyAbnormally reduced serum levels of `alkaline phosphataAn abnormally reduced level of bone isoforms of `alkalAn abnormally reduced level of liver isoforms of `alkalA reduction in the rate of `cholesterol esterification` (GAn abnormally reduced level of `alkaline phosphatase, iAn abnormally reduced level of `alkaline phosphatase, pA decreased concentration of `citrulline` (CHEBI:18211)A reduced concentration of `calcidiol` (CHEBI:17933) in A reduced concentration of `calcitriol` (CHEBI:17823) in An abnormally reduced level of `alkaline phosphatase, Mild fever that does not exceed 38.5 degree centrigradeLocalized fluid retention and tissue swelling caused b

Malignant hyperthermia is characterized by a rapid increAcid accumulation or depletion of base in the body due t

Increased concentration of `methylmalonic acid` (CHEBI:

Mitochondrial propionyl-CoA carboxylase (PCC) defect

Absence of `molybdenum cofactor(2-)` (CHEBI:60525), a

A type of `hyperbilirubinemia` (HP:0002904) with `neona

A `neonatal` (PATO:0002206) `decreased concentration`

Increased urinary excretion of `oligosaccharides` (CHEBFormation of crystals owing to an increased concentratiAn increased concentration of `orotic acid` (CHEBI:1674An abnormal accumulation of the accumulation of interstitiaA `continuous` (PATO:0000689) form of `lactic acidemi

Abnormally increased excretion of `porphyrins` (CHEBI:2If positive, the ferric chloride test indicates an increaseAn `increased concentration` (PATO:0001162) of `glucosAbnormally increased level of blood `lactate` (CHEBI:24Localized fluid retention and tissue swelling caused byThe presence of `premature` (PATO:0000694) `sister c

Premature separation of centromeric heterochromatin

An `abnormality of amino acid metabolism` (HP:0004337Fluid accumulation in the lungs.Hypoglycermia following a meal (or more generally, afterAn `intracellular accumulation of autofluorescent lipopi`Recurrent` (PATO:0000427) episodes of `decreased con`Recurrent` (PATO:0000427) episodes of `decreased concAn abnormal reduction in `4-hydroxyphenylpyruvate dioAn `abnormality of glycoprotein metabolism` (HP:000436An decreased concentration of fructose 1,6-bisphosphatReduced `carnitine O-palmitoyltransferase activity` (GO:0An abnormally decreased amount of `catalase activity`A decreased concentration of `5-methyltetrahydrofolate`An abnormal reduction in `dihydropyrimidine dehydrogeA decreased alkaline phosphatase activity measured witAn abnormal decrease in `orotidine 5'-phosphate decarb

A reduction in `phenylalanine 4-monooxygenase activitAn abnormally decreased amount of thyroxin-binding globuAn abnormal reduction in `xanthine dehydrogenase activ

Acidosis because of respiratory retention of carbon dioxiAlkalosis due to excess loss of carbon dioxide from the A `severe` (PATO:0000396) form of `lactic acidemia` (A form of `lactic acidemia` (HP:0003128) that occurs in reAbnormally reduced `sulfite oxidase activity` (GO:00084Disordered thermoregulation characterized by an impaired

A condition of not having consistently high levels of phe

Abnormal transferrin isoform profile consistent with a tyAbnormal transferrin isoform profile consistent with a typAn increased amount of unconjugated (indirect) bilurubinEpisodes of fever for which no infectious cause can be idIncreased concentration of `uracil` (CHEBI:17568) in theExcretion of `oligosaccharides` (CHEBI:50699) conjugatedAn increased concentration of `urocanic acid` (CHEBI:27

An increased concentration of `xanthine` (CHEBI:15318)

hypokalemic hypochloremic metabolic alkalosisAn increase in the concentration of `bile acid` (CHEBI:30

increased serum bile acid concentration during pregnancy

A type of supraventricular tachycardia that originates in

Displacement of the heart outside the thoracic cavity an

An electrocardiographic anomaly of the ST segment, whi

Abnormality of the spatial relationship of the atria to ot

An abnormality of the circulatory connection between atri

A deviance from the norm of the origin or course of the ri

An abnormal path of a coronary artery.Abnormal plane of direction of the heart from the base toAn abnormality detectable by sonography of the heart (An abnormality of the sinoatrial (SA) node in the right Isolated abnormalities of the coronary artery origins. Th

Abnormal spatial orientation of the cardiac segmentsAn abnormality of filling of a ventricle with blood during d

An abnormality of `blood circulation` (GO:0008015).An abnormality in the amount of volume occupied by intrAn abnormality of a `cardiac atrium` (FMA:7099).An abnormality of the `heart` (FMA:7088).An abnormality of a `cardiac ventricle` (FMA:7100).`Abnormal` (PATO:0000460) `functionality` (PATO:00015An first-trimester prenatal ultrasound finding of abnormaAn abnormality of the `aorta` (FMA:3734).An anomaly of the `arch of aorta`(FMA:3768).Any abnormality of the `aortic valve` (FMA:7236).An abnormality of the `interatrial septum` (FMA:7108).An abnormality of an `atrioventricular valve` (FMA:7233)An anomaly of the intra-atrial or intraventricular septum.Any abnormality of the `cardiovascular system` (FMA:71

An anomaly of the `celiac artery` (FMA:50737).An abnormality of the `coronary arteries` (FMA:3800).An abnormality of the `coronary sinus` (FMA:4706), which An abnormality of the `endocardium` (FMA:7280).An abnormality of the fetal circulation system or fetal An abnormality of a `Cardiac valve` (FMA:7110).An abnormality of the `left ventricle` (FMA:7101) of the hAn abnormality of the `outflow tract of the left ventricleAn abnormality of the `mitral valve` (FMA:7235).

An abnormality of the `pericardium` (FMA:9869), i.e., of An abnormality of the `pulmonary artery` (FMA:66326).An abnormality of the `pulmonary valve` (FMA:7246).

An abnormality of the `pulmonary veins` (FMA:70827).An abnormality of the `right ventricle` (FMA:7098) of theAn abnormality of the `systemic arterial tree` (FMA:49894An abnormality of the `tricuspid valve` (FMA:7234).An abnormality of the `vasculature` (FMA:69050).

An abnormality of the `interventricular septum` (FMA:71Refers to the specific combination of defects with a sev

A congenital defect with aplasia (absence) of one of the r

Absence of the right superior vena cava (RSVC). An absen

With left or right cardiac isomerism in a biventricular, t

Abnormal outpouching or sac-like dilatation in the wall ofAbnormal outpouching or sac-like dilatation in an artery Paroxysmal chest pain that occurs with exertion or stres

A coronary artery begins (branches off from) the pulmonaLeft main coronary artery begins (branches off from) the The left pulmonary artery originates from the ascendingAnomalous origin of one pulmonary artery from the ascendRight coronary artery begins (branches off from) the pulmThe right pulmonary artery originates from the ascendinA developmental defect characterized by abnormal connecti

The presence of atheromas or atherosclerotic plaques in

Aortic dissection refers to a tear in the intimal layer ofAn insufficiency of the aortic valve, leading to regurgitat

Abnormal tortuous (i.e., twisted) form of the `aorta` (FMA congenital disorder of the aortic valve in which the orifiThe presence of a stenosis (narrowing) of the aortic valvAorto-ventricular tunnel is a congenital, extracardiac chaA congenital anomaly with an abnormal connection betweA muscular ventricular septal defect located at the apex The presence of multiple hemangiomas in the arachnoidAny cardiac rhythm other than the normal sinus rhythm. S

A separation (dissection) of the layers of an artery.

Formation of excess fibrous connective tissue in the tunicNarrowing or constriction of the inner surface (lumen) of Abnormal tortuous (i.e., twisted) form of arteries.Sclerosis (hardening) of the arteries with increased thickn

Arteriovenous fistulas of celiac and mesenteric vesselsAn anomalous configuration of blood vessels that shunts aArterial inflammation.A bulging, weakened area in the wall of the ascending th

A separation of the layers within the wall of the `ascendHypertrophic cardiomyopathy with an asymmetrical pattern

A condition characterized by patchy atheromas or atheros

An atrial arrhythmia characterized by disorganized atriaA type of atrial arrhythmia characterized by atrial rates o

A bulging of the `interatrial septum` (FMA:7108) towarCommon atrium without defining morphologic features.Mirror image atrial arrangement, with morphologic right aDelayed or lack of conduction of atrial depolarizations thA defect of the atrioventricular septum of the heart.An atrioventricular canal defect whereby the aorta arises Atrioventricular (AV) dissociation is present if the atri

A bacterial infection of the endocardium, the inner layer The presence of an `aortic valve` (FMA:7236) with two inThe presence of a bicuspid `pulmonary valve` (FMA:724Pattern of blood flow in the heart that deviates from the n

The presence of both a left and a right ductus arteriosus

Bilateral superior vena cava with no bridging veinBiventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricula

Noncompaction cardiomyopathy that affects both ventricA slower than normal heart rate (in adults, slower than 6

Block of conduction of electrical impulses along the BundA type of aortic valve stenosis associated with calcificatiThe presence of a capillary hemangiomas, which are he

A cardiac diverticulum is a rare congential malformation A `fibroma` (MPATH:407) of the `heart` (FMA:7088).Abnormal proliferation of blood vessels within the cardiA myxoma (tumor of primitive connective tissue) of the A benign tumor of cardiac striated muscle.Pattern of blood flow in the heart that deviates from the A teratoma within the heart. Most commonly, these tumorsType 2 total anomalous pulmonary venous connection.`Increased size` (PATO:0000586) of the `heart` (FMA:70A myocardial disorder in which the heart muscle is strucA aneurysm (balooning or bulging out of the vessel wall) A separation (dissection) of the layers of the carotid arteComplete obstruction of a carotid artery.Narrowing of the carotid arteries.Abnormal tortuous (i.e., twisted) form of the carotid arterAn exaggerated response to carotid sinus baroreceptor stThe presence of a cavernous hemangioma. A hemangioma

Abnormal outpouching or sac-like dilatation in the wall oCompression of the `celiac artery` (FMA:50737).The aortic arch extends into the soft tissues of the necA type of ectopia cordis with the heart partially in the c

Accumulation of chyle (the whitish fluid taken up by the lCleft in the anterior mitral valve leaflet not associated wiCoarctation of the aorta is a narrowing or constriction oCoarctation of the aorta is a narrowing or constriction ofNarrowing or constriction of the aorta localized to the rComplete absence of the interatrial septum with common aA separation (dissection) of the layers of the `common cThe left common carotid artery has a common origin withA congenital heart defect characteizred by a specific comNo pericardium over the diaphragmatic surface of the hear

Complete heart block with broad RS complexesComplete heart block with narrow QRS complexes

A congenital anomaly with complete lack of the pericardiNo pericardium is present on the righthand side of the heHypertrophic cardiomyopathy with an symmetrical and coA form of atrioventricular (AV) dissociation (i.e., the atA developmental defect of the `pericardium` (FMA:9869)

Mitral stenosis with congenital onset.A congenital defect of the vasculature such that there is a

The essence of the lesion is the combination of discordantCongenitally corrected transposition of the great arteries with ventricular septal defect

The presence of an abnormality of cardiac function that isA congenital malformation of the outflow tract of the hearPresence of a thickened, fibrotic pericardium that formsRight-sided heart failure resulting from chronic hypertensThe presence of an additional membrane in the left or rigA congenital anomaly with partitioning of the right atriuReduction of the diameter of the coronary arteries as thA congenital malformation with abnormal connection bet

Coronary artery disease, also called atherosclerotic hearAn atrial septal defect characterized by a deficiency in A venous pouch within the left ventricular wall, with a nCrossing of the inflow streams of the two ventricles, due

Criss-cross atrioventricular valves with superior-inferior ventriclesA disorder of large arteries, in particular the aorta, ch

Atrial septal defect (ASD) is a congenital abnormality of A bulging, weakened area in the wall of the descending tA separation of the layers within the wall of the `descenThe heart is located in the right hand sided hemithorax. Tha

Dilated cardiomyopathy (DCM) is defined by the presence oConnection of the right atrium to the left ventricle and of t

A conenital abnormality of the aortic arch in which theThe condition in which both atria are joined to a single veThe condition in which both atria are joined to the left vThe condition in which both atria are joined to the right veThe condition in which both atria are joined to a single ve

Double inlet to single ventricle with common atrioventricular orificeDouble inlet to single ventricle with two atrioventricular valves

The left atrio-ventricular connection consists of two anatA congenital defect of heart development characterized bDouble outlet right ventricle (DORV) is a type of ventricu

Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosisDouble outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosisDouble outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosisDouble outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosisDouble outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosisDouble outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosisDouble outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosisDouble outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis

An abnormality of the T wave on the electrocardiogram, wAn inversion of the T-wave (which is normally positive).Ebstein's anomaly refers to an abnormally placed and deforCongenital malformation of the ventral wall with partial or

Effort-induced polymorphic ventricular tachycardiasAbnormal increase in diastolic blood pressure.

An abnormally elevated blood pressure in the circulatio

Abnormal increase in systolic blood pressure.

The presence of excessive connective tissue in the `enAn inflammation of the endocardium, the inner layer of th

A separation (dissection) of the layers of the `external cA separation (dissection) of the layers of the extracranialA fibrous cardiac diverticulum refers to an aneurysm anDelay of conduction through the atrioventricular node, whThe presence of foam cells, which cells in an atheroma

The presence of foam cells that contain lamellar inclusio

A type of descending thoracic aortic aneurysm that bulges

Abnormal tortuous (i.e., twisted) form of arteries affectingA type of ventricular septal defect communicating directl

Inflammation of the coronary arteries involving a granulImpaired conduction of cardiac impulse occurring anywhA hemangioma is a benign tumor characterized by blood-f

Accumulation of blood within the pericardial sac.A form of heart failure characterized by elevated cardiacThe presence of `chronic` (PATO:0001863) `increased pA type of `hypertension` (HP:0000822) associated wit

Hypertrophic cardiomyopathy (HCM) is defined by the preAn increase in the amount of intravascular fluid, particula

Underdevelopment of the `arch of aorta`(FMA:3768).

Underdevelopment of the left side of the heart. May includ

Underdevelopment of the right-sided structures of the heCongenital defect characterized by underdevelopment of Low Blood Pressure, vascular hypotension.An decrease in the amount of intravascular fluid, particul

An atrioventricular valve that has failed to open (atretic).An tricuspid valve that has failed to open (atretic).An increase in the combined thickness of the intima and

Abnormal outpouching or sac-like dilatation in the wall o

The superior vena cava passes below the aortic arch.Type 3 total anomalous pulmonary venous connection..A ventricular septal defect that involves the inlet of thA specific combination of heart defects with a primum atria

A separation (dissection) of the layers of the `internal c

The presence of `hemorrhage` (MPATH:119) within the Non-continuity of the `arch of aorta`(FMA:3768) with an Non-continuity of the aortic arch with an atretic point orNon-continuity of the aortic arch with an atretic point oNon-continuity of the aortic arch with an atretic point oInterrupted inferior vena cava with azygous continuation

A separation (dissection) of the layers of the intracranialThe J wave is a positive convex deflection that occurs

Narrowing or constriction of the aorta localized at the ins

A type of vasculitis (inflammation of blood vessel walls) Persistence of the embryonic dorsal or sciatic vein systeConduction block in the anterior division of the left bund

Left aortic arch with cervical origin of the right subclavian arteryThe subclavian artery arises from ductus arteriosus. WhileA patent ductus arteriosus or ductal ligament completes Aortic arch crosses the left mainstem bronchus. The first The ring may be completed by the ductal ligament.In left atrial isomerism there is a bilateral small finger-A conduction block of the left branch of the bundle of Conduction block in the posterior division of the left bun

Left superior vena cava draining directly to the left atriumLeft superior vena cava draining to coronary sinus

Left ventricular non-compaction (LVNC) is characterized b

Pattern of blood flow in the heart that deviates from the nLibman-Sacks valvular lesions are sterile fibrofibrinous vA form of heart failure characterized by reduced cardiac

Congenital malformation of the heart or great vessels (i.Subvalvular stenosis is caused by a diaphragm-like membraAbnormal outpouching or sac-like dilatation in the wall oMesocardia is a abnormal location of the heart in which theAbnormal plane of direction of the heart from the base toA small reduction in the fraction of blood pumped from thA congenital defect with failure to open of the mitral valveAn `abnormality of the mitral valve` (HP:0001633) charactAb abnormal narrowing of the orifice of the mitral valve.Anomalous mitral valve arcade is diagnosed b ased on the One or both of the leaflets (cusps) of the mitral valve bulType 4 total anomalous pulmonary venous connection.Progressive PR interval prolongation with the subsequenA type of second degree atrioventricular (AV) block chaA medium reduction in the fraction of blood pumped from

A type of subvalvular aortic stenosis resulting from thickThe trabecular septum is the largest part of the interve

Necrosis of the myocardium caused by an obstruction of t

`Steatosis` (MPATH:622) in the `myocardium` (FMA:946Inflammation of the myocardium.Myxomatous mitral valve is defined as the presence of exc

`Naevus flammeus` (HP:0001052) localised in the skin ofA `neoplasm` (MPATH:218) of the `heart` (FMA:7088).A congenital vascular malformation consisting of superfici`Naevus flammeus` (HP:0001052) localised in the skin o`Naevus flammeus` (HP:0001052) localised in the skin o

Any ventricular septal defect (VSD) that does not restricA type of cardiomyopathy characterized anatomically by Coronary disease that has not progressed to the point of

Syncope following a quick change in position from lying An overriding aorta is a congenital heart defect where theAn atrioventricular valve that empties into both ventriclA sensation that the heart is pounding or racing, which i

Abnormality of the mitral valve apparatus, whereby chordEpisodes of atrial fibrillation that typically last for sev

An episodic form of supraventricular tachycardia with ab

A form of `anomalous pulmonary venous return` (HP:00107A specific combination of heart defects including a primumLack of a part of the pericardium over the diaphragmatic sA congenital anomaly with lack of part of the pericardiumA congenital anomaly with lack of part of the pericardiumIn utero, the ductus arteriosus (DA) serves to divert venAbnormal persistent patency of the ductus arteriosus in Abnormal persistent patency of the ductus arteriosus whFailure of the foramen ovale to seal postnatally, leaving

Accumulation of fluid within the pericardium.

A `Malignant mesothelioma` (HP:0100001) originating fromInflammation of the sac-like covering around the heart (A ventricular septal defect that is confluent with and i

Stenosis of a peripheral branch of the pulmonary artery.

AF that cannot be successfully terminated by cardioversPermanent junctional reciprocating tachycardia

Systemic desaturation of a liveborn baby resulting from p

Persistence of blood flow through the ductus venosus for

Polymorphic and polytopic ventricular extrasystolesA positive response to the regitine blocking test consist

Narrowing or constriction of the aorta localized distal to

Narrowing or constriction of the aorta localized proximal Arteriosclerosis occuring at an age that is younger than

A type of supraventricular tachycardia in which the atria An ostium primum atrial septal defect is located in the Increased time for the PR interval (beginning of the P Increased time for the complex comprised of the Q waveIncreased time between the start of the Q wave and the

Prominent thoracic and abdominal veins.Pseudocoarctation is a congenital anomaly of kinking, or Increase in mass of the tunica media of the arteries in t

An aneurysm (localized balloon-like outward bulging) in A congenital anomaly with e narrowing or complete absenAn abnormal widening of the diameter of the pulmonary aUnderdevelopment of the pulmonary artery.An anomalous origin of the left pulmonary artery, such tAn abnormal narrowing or constriction of the pulmonary a

Formation of excess fibrous connective tissue in the tunic

Pulmonary hypertension is defined as a mean pulmonary The retrograde (backwards) flow of blood through the pulmInfiltration of smooth muscle-like cells in lymph vesseA congenital disorder of the pulmonary valve in which the

A narrowing of the right ventricular outflow tract that ca

A `recurrent` (PATO:0000427) `hemorrhage` (MPATH:119)A diminution of the volumetric fraction of blood pumped o

An abnormal motion of a segment of the left ventricle durRestrictive left ventricular physiology is characterized b

Any ventricular septal defect (VSD) that is small enough Rhythm disturbances associated with pheochromocytoma

Aorta descends on right instead of on the left.Right aortic arch with left descending aorta and left ductus arteriosus

The aortic arch crosses the right mainstem bronchus and noAortic arch crosses the right mainstem bronchus. The left

Right aortic arch with retroesophageal left subclavian arteryRight atrial isomerism is characterized by bilateral triangA conduction block of the right branch of the bundle of H

Right sided atrium to left ventricle and absent left sided atrioventricular connectionRight ventricular dysfunction (global or regional) with funEnlargement of the chamber of the right ventricle.Reduced ability of the right ventricle to perform its funcIn this case the right ventricle is more muscular than noA predominantly right ventricular variant of isolated n

Pattern of blood flow in the heart that deviates from the nAbnormal plane of direction of the heart from the base toAn electrocardiographic anomaly in which the ST segment iAn electrocardiographic anomaly in which the ST segment A type of descending thoracic aortic aneurysm that bulgeRight pulmonary venous return to the inferior vena cava.An intermittent atrioventricular block with failure of somA kind of `atrial septum defect` (HP:0001631) arising Accumulation of serous fluid (pale yellow and transparent A large reduction in the fraction of blood pumped from thAbnormally short `chordae tendineae` (FMA:76527) of theAbnormally short `chordae tendineae` (FMA:76527) of theReduced time for the PR interval (beginning of the P wDecreased time between the start of the Q wave and th

The presence of a single coronary artery ostium from whi

Disturbance in the atrial activation that is caused by tranBradycardia related to a mean resting sinus rate of less

Inappropriate sinus tachycardia is a nonparoxysmal tachAn interatrial communication caused by a deficiency ofA type of vasculitis (inflammation of blood vessel walls) thAcute occurrence of a dissection (tear within the tunica iAnomalous insertion of the chordae tendinae or papillary A fixed form of obstruction to blood flow across the `leftA ventricular septal defect that lies beneath the semilunaThe heart suddenly and unexpectedly stops beating resultAbnormal outpouching or sac-like dilatation in the wall o

Superior-inferior ventricles without criss-cross atrioventricular valvesType 1 total anomalous pulmonary venous connection.A congenital stenotic mitral valvular anomaly with a ring A pathological narrowing in the region above the aortic vaA type of arrhythmia that originates above the ventricleSupraventricular tachycardia (SVT) is an abnormally incre

Supraventricular tachycardia with a concealed accessory connectionSupraventricular tachycardia with a concealed accessory pathway on the left free wall

Supraventricular tachycardia with a concealed accessory pathway on the right free wallSupraventricular tachycardia with a concealed accessory pathway on the septumSupraventricular tachycardia with a manifest accessory pathwaySupraventricular tachycardia with a manifest accessory pathway on the left free wallSupraventricular tachycardia with a manifest accessory pathway on the right free wallSupraventricular tachycardia with a manifest accessory pathway on the septumSupraventricular tachycardia with an accessory connection mediated pathway

Syncope refers to a generalized weakness of muscles withA periodic beat-to-beat variation in the amplitude or sh

A rapid heartrate that exceeds the range of the normal re

Transient left ventricular apical ballooning syndrome orA congenital cardiac malformation comprising pulmonary sFeatures of tetralogy of Fallot with either rudimentary r

Tetralogy of Fallot with absent subarterial conusTetralogy of Fallot with atrioventricular canal defect

An extreme form of tetralogy of Fallot characterized by aA type of tetralogy of Fallot with pulmonary atresia in wThe commonest form of tetralogy of Fallot characterized A form of atrioventricular block in which atrial impulse A bulging, weakened area in the wall of the thoracic aortCongenital malformation of the thoracic wall with partial Congenital malformation of the ventral wall with partial oA type of ectopia cordis with the heart partially in the ceA type of ventricular tachycardia characterized by polyNo pericardium around the heart, occurring as a congenitaTotal anomalous pulmonary venous return refers to a congA specific combination of heart defects with a primum atriaA complex congenital heart defect in which the aorta aris

Transposition of the great arteries with intact ventricular septumTransposition of the great arteries with ventricular septal defect

Failure to develop of the tricuspid valve and thus lack ofFailure of the tricuspid valve to close sufficiently upon cA narrowing of the orifice of the tricuspid valve of the heaOne or more of the leaflets (cusps) of the tricuspid valve Abnormal conduction in all three divisions of the intravenA single arterial trunk arises from the cardiac mass. TheA vascular tumor of the skin and subcutaneous tissues aTruncus arteriosus (single great artery leaving the base Truncus arteriosus (single great artery leaving the base Truncus arteriosus (single great artery leaving the baseTruncus arteriosus (single great artery leaving the base

Anatomic features of unbalanced atrioventricular septal The presence of an `aortic valve` (FMA:7236) with one in

Univentricular heart with absent left sided atrioventricular connectionEnlarged and tortuous veins.A benign or malignant `neoplasm` (MPATH:218) (tumour) A developmental defect of the aortic arch system in whic

Inflammation of blood vessel.

Loss of consciousness due to a reduction in blood pressuAn anomaly of `vein` (FMA:50723).

A vascular malformation resulting from a developmental Elongated and tortuous mesenteric veins, which comprisA localized outpouching of ventricular cavity that is gen

Premature ventricular contractions (PVC) or ventricular eUncontrolled contractions of muscles fibers in the left venA potentially lethal cardiac arrhythmia characterized byEnlargement of the cardiac ventricular muscle tissue with iAn abnormality in which the cardiac ventricles depolarizA form of `ventricular preexcitation` (HP:0004309) due tA hole between the two bottom chambers (ventricles) of t

A disorder of the cardiac conduction system of the heart

Ay severe form of gait ataxia such that an affected persoMalfunction of the abducens nerve as manifested by impaAn abnormality of `myelination` (GO:0042552) of nerves Abnormal concentration of `dopamine` (CHEBI:18243) in

Abnormal aggressive, impulsive or violent behaviorAn abnormality of the auditory evoked potentials, which A structural abnormality of the `autonomic nervous sysA functional abnormality of the `autonomic nervous sysA deviation from normal signal on magnetic resonance imAn anomaly detectable in [18F]-fluorodeoxyglucose (FDA deviation from normal in the ratio of choline to creatA functional brain anomaly detectable by positron emissiA deviation from normal signal on magnetic resonance i

An abnormality of the gyri (i.e., the ridges) of the cerebra

An abnormality of emotional behaviour.An abnormality of fear/anxiety-related behavior, which m

Any structural anomaly of the `hypothalamus` (FMA:620An abnormal `functionality` (PATO:0001509) of the `hy

An anomaly identified by motor evoked potentials (MEPs)An anomaly of metabolism in the brain identified by maAn anomaly identified by motor evoked potentials (MEPs).Any anomaly in the process by which myelin sheaths arAn abnormality of the function of the electrical signals A structural anomaly of a neuron.

An abnormality of the myelination of peripheral neuronalInvoluntary flexion or extension of the arms and legs.Abnormality of REM sleep. Phases of REM sleep are charAn abnormality of actions or reactions of a person takinAn abnormal regulation of the sweat glands by the sympAn anomaly in the communication from a neuron to a targetA deviation from normal signal on magnetic resonance iDeviation from the normal range of size of the `thalamuAn anomaly identified by motor evoked potentials (MEPs)A structural abnormality of the `brain` (FMA:50801), whicAn anomaly of the `brainstem` (FMA:79876).Any anomaly of the conduction of motor nerve impulses An anomaly of the control or production of movement in An abnormality of cortical sensation. Assuming the primary

Abnormality of central somatosensory evoked potentialsAn anomaly of a cerebral artery. The cerebral arteries cAn anomaly of `cerebral veins` (FMA:70861).An anomaly of the `circle of Willis` (FMA:50454), also kno

A neurological condition related to lesions of the basal gAn abnormality of the `forebrain` (FMA:61992), which has Cognitive, psychiatric or memory anomaly.An abnormality of the `hindbrain` (FMA:67687), also kA deviation from the norm of the intracranial pressure.An abnormality of the `midbrain` (FMA:61993), which haAn abnormality of movement with a neurological basis cA structural anomaly of the `nervous system` (FMA:7157A functional anomaly of the `nervous system` (FMA:7157An abnormality resulting from an anomaly of neuronal migraPain is an unpleasant sensation that can range from mildAn abnormality of the conduction of electrical impulses b

Abnormality of peripheral somatosensory evoked potentialsFunctional neurological abnormalities related to dysfuncAn abnormality of somatosensory evoked potentials (SSEP),An abnormality of the `thalamus` (FMA:62007).Any anomaly of the `anterior horn cell` (CL:0000100).An abnormality of the `Arachnoid mater` (FMA:9591).An abnormality of `astrocytes` (CL:0000127).An abnormality of the `autonomic nervous system` (FMAAbnormality of the `basal ganglia` (FMA:84013).An anomaly of the `white matter of brainstem` (FMA:282An abnormality of the `caudate nucleus` (FMA:61833).An anomaly of the `cerebellar peduncles` (FMA:77791). TAn anomaly of the `vermis of cerebellum` (FMA:76928).An abnormality of the `cerebellum` (FMA:67944).An abnormality of the `cerebral cortex` (FMA:61830).An abnormality of the `cerebral subcortex` (FMA:242188

Abnormality of the `cerebral ventricles` (FMA:275917).An abnormality of the `cerebral white matter` (FMA:2419

An abnormality of the `cerebrospinal fluid (CSF)` (FMA:An abnormality of the `telencephalon` (FMA:62000), whiAn abnormality of the `choroid plexus` (FMA:61934), whicAbnormality of the `corpus callosum` (FMA:86464).Abnormality of the corticospinal tract, which is the chieAbnormality affecting one or more of the `cranial nerveAn abnormality of the `dentate nucleus` (FMA:72260).An abnormality of the `Diencephalon` (FMA:62001), whicAn abnormality of the dorsal columns, i.e., of the dorsal An abnormality of the `Dura mater` (FMA:9592).Abnormality of the `eleventh cranial nerve` (FMA:6720).An abnormality of the enteric nervous system, which comAn abnormality of the `Falx cerebri` (FMA:83967).An abormality of the `fifth cranial nerve` (FMA:50866).An abnormality of the `fourth ventricle` (FMA:78469).An abnormality of the `glia cell` (CL:0000125).An abnormality of the `globus pallidus` (FMA:61835).An anomaly of the `internal capsule` (FMA:61950), whichAn abnormality of the `lower motor neuron` (FMA:84632)An abnormality of the `medulla oblongata` (FMA:62004), An abnormality of the `Meninges` (FMA:231572), includiAn abnormality of the `metencephalon` (FMA:62003). The An abnormality of the `microglial cells` (CL:0000129).

An abnormality of the `nervous system` (FMA:7157).Any abnormality of the neuromuscular junction, which isOne of the three types of glia cells that, with the nervAn abnormality of the `peripheral nervous system` (FMA:

An abnormality of the `Pia mater` (FMA:9590).An abnormality of the `pons` (FMA:67943).An abnormality of the `septum pellucidum` (FMA:61844), whAbnormality of the `seventh cranial nerve` (FMA:50868) sAn abnormality of the `abducens nerve` (FMA:50867).An abnormality of the `spinal cord` (FMA:7647) (myelon)An abnormality of the spinal dura mater, which is the ouAny abnormality of the spinal meninges, the system of An abnormality of the spinocerebellar tracts, a set of axAbnormality of the striatum (FMA:77618).Abnormality in the space in the meninges beneath the aAn anomaly of the `superior cerebellar peduncle` (FMA:An abnormality of the `third ventricle` (FMA:78454 ).Abnormality of the `twelfth cranial nerve` (FMA:50871).Abnormality of the `vestibulocochlear nerve` (FMA:50869),A complete loss of the ability to perceive vibration.A developmental defect characterized by the absence of Recurrent absence seizures are `generalized seizures` (Absence seizures that are additionally characterized by Absence seizures that are characterized by additional Absence of the Achilles reflex (also known as the ankle je

Lack of measurable response to stimulation of auditory Agenesis of the midbrain.Absence of the knee jerk reflex, which can normally be elAbsence of the `septum pellucidum` (FMA:61844).Complete lack of development of speech and language abPoverty of behavior and speech output, lack of initiativA tremor present when the limbs are active, either when Acute progressive areflexic weakness and mild sensory

Pheochromocytoma originating from the adrenal medullaAffective auras with subjective qualities similar to thoseAn abnormality resulting from a lack of intestinal ganglioA lack of intestinal ganglion cells (i.e., an aganglionic seCongenital absence of the `vermis of cerebellum` (FMA:Absence of the corpus callosum as a result of the failure Aggressive behavior can denote verbal aggression, physi

Inability to recognize objects not because of sensory defA type of anxiety disorder characterized by avoidance ofImpaired ability to recognize letters or numbers drawn byPresence of abundant argyrophilic grains and coiled bodInability to initiate changes in activity or movement andAkinetic mutism is essentially characterized by a total An acquired type of sensory aphasia where damage to the Pain due to a stimulus that does not normally provoke paA type of holoprosencephaly characterized by the presencEEG dominated by diffuse alpha-waves (8-13Hz).A degenerative disease of the brain characterized by the Congenital absence of the spinal cord.The presence of `amyloid deposition` (MPATH:34) in the

A defect in the motor ability that enables speech.

Inability to experience pleasure activities usually found Clonus is an involuntary tendon reflex that causes repeatCerebral hemorrhage that occurs before birth.Narrowing or constriction of the inner surface (lumen) ofFeeling or dread, apprehension, and impending disaster

Lack of emotion or emotional expression; a disorder of mo

A developmental defect characterized by `aplasia` (MPAAplasia of the inferior half of the cerebellar vermis

Absence or underdevelopment of tissue in the central nAplasia/Hypoplasia involving the corticospinal tracts

Absence or underdevelopment of the `vermis of cerebel

Absence or underdevelopment of the `cerebral white ma

Absence or underdevelopment of the `corpus callosum`

A defect in the understanding of complex motor commands

Stenosis of the cerebral aqueduct (also known as the meAn extra-parenchymal and intra-arachnoidal collection of fAbsence of neurologic reflexes such as the knee-jerk reaInability to elicit tendon reflexes in the lower limbs.Inability to elicit tendon reflexes in the upper limbs.Arnold-Chiari malformation consists of a downward dispArnold-Chiari type I malformation refers to a relatively mi

Arteriosclerosis (increased thickness, increased stiffness, Inability to recognize the form of objects by touch withoA clinical sign indicating a lapse of posture and is usualAstrocytoma is a neoplasm of the central nervous system Proliferation of `astrocytes` (CL:0000127) in the area of

A type of `dyssynergy` (HP:0010867) characterized by thCerebellar ataxia refers to ataxia due to dysfunction ofA type of cerebral palsy characterized by slow, involuAthetosis (from the Greek word for 'changeable' or 'unfixSeizures characterized by a sudden loss or diminution o

Atrophy/Degeneration affecting the central nervous systemThe presence of atrophy (wasting) of the `cerebrum` (FM

Atrophy/Degeneration involving motor neuronsAtrophy/Degeneration involving the caudate nucleusAtrophy/Degeneration involving the corticospinal tractsAtrophy/Degeneration involving the spinal cord

Attention deficit hyperactivity disorder (ADHD) manifests Absence seizures characterized by insidious begin and

Auras with sensations of buzzing, drumming sounds or s

Subjective ictal phenomena that, in a given patient, may pAutism is a neurodevelopmental disorder characterized by

A disorder beginning in childhood. It is marked by the pAbnormal bladder function (increased urge or frequency An abnormality of the regulation of the `autonomic nerImpotence (inability to develop or maintain an erection)A type of dystonia that affects the midline muscles, i.e.

A pattern of simultaneous degeneration and regeneratiA reduction in the number of axons in the peripheral neThe presence of axonal regeneration following a previouUpturning of the big toe (and sometimes fanning of the othThe presence of `calcium deposition` (MPATH:36) affecti

The presence of `gliosis` (MPATH:182) in the `basal gaDeath of cells in the `basal ganglia` (FMA:84013).A type of `onion bulb formation` (HP:0003383) prominentlAn abnormality of mental functioning including various af

Benign neoplasm of the central nervous systemEEG dominated by diffuse beta-waves (>13 Hz).

Bilateral convulsive seizures are focal seizure with secDeposition of calcium salts on both sides of the brain.Epileptiform discharges being identified at multiple locaA bilateral vestibular Schwannoma (acoustic neurinoma)Mirror hand movements.

A personality disorder characterized by impulsive behaviBradykinesia literally means slow movement, and is used Partial or complete wasting (loss) of brain tissue that w

A developmental structural anomaly of the stalk-like parA `glioma` (HP:0009733) affecting the `brainstem` (FMA

An abnormal gait pattern in which persons stand and walkBruxism is characterized by the grinding of the teeth inclBulbar weakness (or bulbar palsy) refers to bilateral imp

A form of anomalous eating behavior characterized by binA loss of myelin from nerve fibers in the central nervousIncreased amount of myelin in the central nervous systeReduced amount of myelin in the central nervous system

An increased lymphocyte count in the cerebrospinal fluidAn increased white blood cell count in the cerebrospinal fAn increased polymorphonuclear cell count in the cerebroThe presence of `calcium deposition` (MPATH:36) in the Deposition of calcium salts within small blood vessels of A paraganglioma (a neuroendocrine neoplasm) originatingA sudden and transient episode of bilateral loss of musc

The formation of small cavities in the tissue of the `basIf the two laminae of the septum pellucidum are not fusedReduced muscle tone secondary to an abnormality of th

Sleep apnea resulting from a transient abolition of the ceAtrophy of the cerebellum affecting primarily the Purkinje

Lack of development of the cerebellum.The presence of cerebellar signs and symptoms such as lacAtrophy (wasting) of the cerebellum`(FMA:67944).

Atrophy (wasting) of the `cerebellar cortex` (FMA:72248)

The presence of `developmental dysplasia` (MPATH:64) A `glioma` (HP:0009733) affecting the `cerebellum` (FMThe presence of `gliosis` (MPATH:182) in the `cerebellAtrophy of the cerebellum affecting primarily the granularA 'hemangioblastoma` (HP:0010797) of the `cerebellum

`Hemorrhage` (MPATH:119) into the parenchyma of the Underdevelopment of the `cerebellum` (FMA:67944).

Wasting (atrophy) of the `vermis of cerebellum` (FMA:7Underdevelopment of the `vermis of cerebellum` (FMA:7An arachnoid cyst located at the margin of the cerebellThe presence of a localized dilatation or ballooning of a

Atherosclerosis (HP:0002621) of a cerebral artery.Narrowing or constriction of the inner surface (lumen) of Atrophy (wasting, decrease in size of cells or tissue) affA sac-like aneurysm (outpouching) of a cerebral blood vThe presence of `calcium deposition` (MPATH:36) within

Atrophy of the cortex of the cerebrum.Atrophy of one side of the brain, characterized by finding

Defective structure and function of myelin sheaths of theAbnormal accumulation of fluid in the brain.Cerebral inflammation involving a granulomatous responsThe presence of a `hamartoma` (HP:0010566) of the `c`Hemorrhage` (MPATH:119) into the parenchyma of the Cerebral eosinophilic, discrete, intracytoplasmatic incluReduced amount of myelin in the nervous system resultinUnderdevelopment of the cerebrum.Nuclear or cytoplasmic aggregates of stainable substances

Cerebral palsy describes a group of permanent disorders Inflammation of the blood vessels within the brain.A congenital malformation of veins which drain normal bra

Congenital defect with failure of the development of theThe presence of atrophy (wasting) of the cerebral white Underdevelopment of the `cerebral white matter` (FMA:Compression of the spinal cord in the cervical region, g

Atrophy of the cervical segment of the spinal cord.A diagnostic reflex elicited by stimulation of the skin ov

Involuntary and irregular twitches of the chin.Chorea (Greek for 'dance') refers to widespread arrhythmInvoluntary movements characterized by both athetosis (The presence of `calcium deposition` (MPATH:36) in theA cyst occurring within the `choroid plexus` (FMA:61934) `Choroid plexus papilloma` (MPATH:246) is a histologicaChronic cerebrospinal fluid (CSF) lymphocytosis is defineAn abnormality characterized by chronic impairment of tSubjective feeling of tiredness characterized by a lack o

Persistent pain, usually defined as pain that has laster

A series of rhythmic and involuntary muscle contractions Lack of physical coordination resulting in an abnormal tA type of headache characterized by repeated attacks of

Abnormality in the process of thought including the abilit

Complete absence of wakefulness and content of consciencA form of `hydrocephalus` (HP:0000238) in which there isFebrile seizures with focal semiology, duration of more tLack of clarity and coherence of thought, perception, und

The presence of `calcium deposition` (MPATH:36) within br

An unusually happy aspect over time which can also may Injury to the median nerve caused by its entrapment at thAn anomalous build up of copper (Cu) in the `brain` (FThe presence of atrophy (wasting) of the corpus callosuThe presence of `developmental dysplasia` (MPATH:64) An abnormal reduction of the number and complexity of thCortical tubers in the brain are hamartomatous lesions ty

A functional deficit of the tract that conveys nervous im

A form of focal dystonia affecting the face, head or necAn increase in size of the `third ventricle` (FMA:78454).A type of `seizure` (HP:0001250) characterized by crying

A type of rigidity in which the arms are in flexion and adDecreased intensity of the Achilles reflex (also known as Decreased concentration of homovanillic acid (HVA) in tA reduction in the amplitude of sensory nerve action potA reduction in the amplitude of sensory nerve action potA reduction of the pressure inside the cranium (skull) andAn abnormal reduction in the amplitude of the miniature eA type of decreased nerve conduction velocity that affeA reduction in the speed at which electrical signals proA reduced number of large myelinated nerve fibers.A loss of myelinated nerve fibers in the peripheral nervo

Decreased number of small peripheral myelinated nerve fibersDecreased intensity of the patellar reflex (also known as Reduced speed of conduction of the action potential aloA reduction in the size of nerve terminals.A reduction in the quantity of space occupied by the `t

Multiple areas of darker than expected signal on magneImpaired ability to repeat non-word sounds. Nonword re

Deterioration of the tissues of the `lateral corticospinal A subjective feeling that an experience which is occurrin`Delayed` (PATO:0000502) `myelination` (GO:0042552) iA type of `motor delay` (HP:0001270) characterized by an A type of `motor delay` (HP:0001270) characterized by an `Delayed` (PATO:0000502) `myelination` (GO:0042552)`Delayed` (PATO:0000502) `myelination` (GO:0042552) iA failure to meet one or more age-related milestones of A degree of language development that is significantly beA belief that is pathological and is held despite evidenceA loss of global cognitive ability of sufficient amount toDemyelination of peripheral motor nerves.Demyelinating neuropathy is characterized by slow nerveDemyelination of peripheral sensory nerves.

Dense calcifications in the cerebellar dentate nucleusA condition characterized by pervasive dysphoric mood, loLoss of developmental skills, as manifested by loss of A cessation of the development of a child in the areas of A cessation of the development of a child in the areas of Seizures characterized by impaired consciousness.Coexistence of two hemicords, at variable levels, causingReduced ability to walk (ambulate).

Diffuse unlocalised atrophy affecting the cerebellum.Diffuse unlocalised atrophy affecting the cerebrum.Generalized deposition of calcium salts within the brain.

A diffuse loss of myelin from nerve fibers in the central

A diffuse loss of myelin from the internode regions alon

An abnormal dilatation of the `fourth cerebral ventricle`

A reduction in goal-directed behavior, that is, motivatio

Duplication of the spinal cord.A lack of restraint manifested in several ways, including

Disorganization of the anterior cerebellar vermisA pattern of sensory loss with selective loss of touch sePeripheral sensory neuropathy affecting primarily distal An abnormal reduction in sensation in the distal portions

Excessive daytime sleepiness.A lack of intestinal ganglion cells (i.e., an aganglionic A widening or ballooning of the dural sac surrounding theDysarthric speech is a general description referring to a`Dysfunction` (PATO:0001641) of the `autonomic nervoA specific learning disability involving mathematics and aA type of `ataxia` (HP:0001251) characterized by the impaAbnormal sensations with no apparent physical cause tha

Defective development of the `vermis of cerebellum` (FA writing disability in the absence of motor or sensory defA movement disorder which consists of effects includinA learning disorder characterized primarily by difficultieA type of `ataxia` (HP:0001251) characterized by the inaA structural anomaly of the inferior portion of the `verm

Difficulty in swallowing.

An impairment in the ability to produce voice sounds.Dysplasia and dysgenesis of the corpus callosum are nonA type of `ataxia` (HP:0001251) characterized by the imAn abnormally increased muscular tone that causes fixed Abnormality observed by electroencephalogram (EEG), whicEEG background activity at 4-5/second.EEG with abnormally slow frequencies.The burst suppression pattern in electroencephalography EEG with focal sharp transient waves in the central regiEEG with focal sharp transient waves of a duration less EEG with sharp slow waves in the central region. SharpEEG with sharp waves in the central region, i.e., sharpEEG with focal sharp transient waves in the centrotemporEEG with abnormal amplitude.An EEG with constitutional variants contains waves that

EEG showing diffuse slowing without interruption.EEG frequency is abnormally increased.EEG discharges recorded in particular areas of the A locEEG with focal sharp transient waves of a duration betEEG with focal sharp transient waves of a duration betFocal (localized) slow activity reflects focal dysfunction,EEG with focal sharp transient waves of a duration lessEEG with focal sharp transient waves of a duration lessEEG with focal sharp transient waves in the frontal regioEEG with focal sharp transient waves of a duration less EEG with sharp slow waves in the frontal region. SharpEEG with sharp waves in the frontal region, i.e., sharpEEG discharges recorded on the entire scalp typically seAn abnormal generalized reduction in amplitude of the ceGeneralized epileptiform discharges of different shapesEEG with repetitive generalized sharp transient waves oEEG with generalized sharp transient waves of a duratDiffuse slowing of cerebral electrical activity recordedSlowing at frequencies between 7.5 and 8.5 Hz.Generalized slowing of EEG activity at frequencies betwGeneralized slowing of EEG activity at frequencies betwEEG without electrical activity.EEG with generalized sharp transient waves of a duratiEpileptiform discharges induced by hyperventilation (oveFocal epileptiform discharges induced by hyperventilatioGeneralized epileptiform discharges induced by hyperventNon-continuous diffuse slowing of electroencephalographEEG shows spikes (<80 ms) and waves, which are recordeAn abnormal localized reduction in amplitude of the cereMultifocal slowing of cerebral electrical activity recordEEG with focal sharp transient waves in the occipital regEEG with focal sharp transient waves of a duration less tEEG with sharp slow waves in the occipital region. ShaEEG with sharp waves in the parietal region, i.e., sharSlowing in occipital areas of the scalp EEG.EEG with focal sharp transient waves in the parietal regEEG with focal sharp transient waves of a duration less EEG with sharp slow waves in the parietal region. SharEEG with sharp waves in the parietal region, i.e., sharPeriodically recurring abnormalities in the EEG.Periodically occurring generalized periodic complexes.Periodic lateralized epileptiform discharges (PLEDs)are

EEG with persistent abnormal rhythmic activityEEG abnormalities (epileptiform discharges) evoked by flOccurrence of epileptiform discharges in occipital regionOccurence of epileptiform discharges in occipital and cenOccurrence of epileptiform discharges in occipital, centraOccurrence of generalized epileptiform discharges duringThe presence of complexes of repetitive spikes and wavFocal spikes occurring for several seconds.

The presence of complexes of spikes and waves (2.5-3.The presence of complexes of slow spikes and slow wavThe presence of complexes of spikes and waves (>3.5 HComplexes of spikes (<70 ms) and sharp waves (70-200 msEEG with focal sharp transient waves in the parietal regEEG with focal sharp transient waves of a duration less EEG with sharp slow waves in the temporal region. SharEEG with sharp waves in the temporal region, i.e., sharThe presence of spontaneous bursts of rapidly firing poteTypical absence seizures starting before the age of 4 yeIncreased susceptibility to fatigue.The tendency to repeat vocalizations made by another pClonus at the elbow joint, i.e., an exaggerated phasic stIncreased concentration of `dopamine` (CHEBI:18243) in An increase in the level of choline-containing compoundAn increase in the level of lactate in the brain identifIncreased length of the `superior cerebellar peduncle`

Encephalopathy is a term that means brain disease, dama

Increase in amplitude of a long-loop response upon somaAbnormal increase in size of the brainstem.An abnormally increased size of the cerebellum comparedIncrease in size of the cisterna magna, one of three pr

Increase in size of the `hippocampus` (FMA:62493).

Increase in size of a peripheral nerve. This finding can An increase in size of the subarachnoid space associated An increase in the quantity of space occupied by the `Malfunction of a peripheral nerve resulting from mechaniAn entrapment neuropathy of the suprascapular nerve, preAn entrapment neuropathy of the ulnar nerve in the cubitaThe presence of an `ependymoma` (MPATH:247) of the `Hemorrhage` (MPATH:119) occurring between the `duraAuras with abdominal discomfort including nausea, emptiA form of partial status epilepticus with simple motor mani

A sudden flexion, extension or mixed extension-flexion Electroencephalographic patterns that resemble epileptoPeriodic spells of incoordination and imbalance.Intermittent and recurrent bouts of a subjective feeling Transient episodes of weakness of the arm, leg, and in

Intermittent episodes of paralysis of all four limbs.An exaggerated startle reaction in response to a sudden

Affective, mnemonic or composite perceptual auras with su

A delay in the acquisition of the ability to use languagAn increased amount of cerebrospinal fluid (CSF) in thPheochromocytoma not originating from the adrenal medul

Muscular rigidity (continuous contraction of muscles wiThe presence, on T2-weighted magnetic resonance imaging,Repetitive pressing, poking, and/or rubbing in the eyes.Focal seizure with eyelid myoclonia, not eyelid myocloniFasciculations affecting the tongue muscle and the muscu

Fasciculations are observed as small, local, involuntary mA type of weakness that occurs after a muscle group is uA subjective feeling of tiredness characterized by a lackFebrile seizures are convulsions induced by a fever in iAn inability or difficulty differentiating among the finger

Focal epileptiform discharges with spreading to the hemiFocal EEG discharges that secondarily spread to both hA lighter than expected T2 signal on magnetic resonance iA lighter than expected T2 signal on magnetic resonance iA lighter than expected T2 signal on magnetic resonance iA darker than expected T2 signal on magnetic resonance imA darker than expected T2 signal on magnetic resonance iA darker than expected T2 signal on magnetic resonance iFocal seizures with an objectively documented and distinAn autonomic seizure with altered responsiveness.An autonomic seizure without altered responsiveness.

A type of `dystonia` (HP:0001332) that is localized to a sFocal epileptiform discharges with spreading to contralaA congenital absence of the convolutions of the cerebral cFocal seizures involving musculature in any form.

Seizures of which initial semiology indicates, or is consisA `partial seizure` (HP:0007359) characterized by impaiA `partial seizure` (HP:0007359) in which consciousnessSeizures with sustained increase in muscle contraction i

Paralysis of the fourth cranial (trochlear) nerve manifes

Atrophy of the `frontal cortex` (FMA:61824).

Primitive reflexes traditionally held to be a sign of disordeA venous angioma of the frontal lobe of the brain.

The presence of `developmental dysplasia` (MPATH:64) ofAn excessive number of small gyri (convolutions) on the sAtrophy (wasting, decrease in size of cells or tissue) afA dementia associated with degeneration of the frontotemp

A developmental defect characterized by fusion of the leGait apraxia affecting the ability to make walking movemA type of `ataxia` (HP:0001251) characterized by the impThe term gait disturbance can refer to any disruption of t

A benign neoplasm that usually arises from the sympathetA type of `seizure` (HP:0001250) characterized by laughiGeneralized atrophy or hypoplasia of the cerebrum.Seizures with regularly repetitive myoclonus, involving A type of `dystonia` (HP:0001332) that affects all or mos

Generalized hypotonia due to defect at the neuromuscular junctionSeizures with sudden, brief (< 100 msec) involuntary singSeizures of with initial involvement of both cerebral hemGeneralized seizures with sustained increase in muscle Generalized tonic-clonic seizures are `generalized seizuGeneralized tonic-clonic seizures on awakening are a foAn abnormal enlargement (i.e. increase in measured vol

A tumor arising from glia in the central nervous system The presence of a `glioma` (MPATH:249), which is a `neoThe presence of `gliosis` (MPATH:182) in the `central Unlocalized atrophy of the brain with decreased total brA delay in the achievement of motor or mental milestones

Gray matter heterotopia is a neurological disorder causedAuras with taste sensations including acidic, bitter, salty A phenomenon in which persons repetitively pull out their Perceptions in a conscious and awake state in the absence Auras with creation of composite perceptions without cor

A head tremor of moderate speed (3 to 4 Hz) in the anteriAn unintentional, oscillating to-and-fro muscle movemeHabitual striking of one's own head against a surface sucCephalgia, or pain sensed in various parts of the head, no

A `hemangioblastoma` (MPATH:238) is a benign vascular nHemiballismus is a rare movement disorder that is cause

Focal clonic seizures affecting one side of the face.A segmental myoclonus of muscles innervated by the facHypsarrhythmia occurring in one hemisphere.Enlargement of all or parts of one cerebral hemisphere.Relatively mild weakness in the arm, leg, and in some caParalysis (complete loss of muscle function) in the arm,

Loss of strength in the arm, leg, and sometimes face on oCentral nervous system dysfunction in association with li

Intracellular aggregates of actin and actin-associated proA personality disorder characterized by shallow and labileHoloprosencephaly is a structural anomaly of the brain inA defect of development of the brain characterized by reHydrocephalus is an active distension of the ventricular sDilation of central canal from incomplete fusion of the p

Motor hyperactivity with excessive movement of musclesSeizures with increase in rate of ongoing movements or A tendency or compulsion to examine objects by mouth.The presence of overactive or overresponsive reflexes.

A headache disorder that occurs exclusively at night, wak

Hyperexcitability of the neuromuscular system related to

Brain damage related to a lowering of blood glucose bel

Abnormally low glucose concentration content in the cereA darker than expected signal on magnetic resonance imAbnormally diminished motor activity. In contrast to paraSeizures with a decrease in amplitude and/or rate or arre

Underdevelopment of the `brainstem` (FMA:79876).Underdevelopment of the corpus callosum.Underdevelopment of the `frontal lobe` (FMA:61824) of

Underdevelopment of the `pons` (FMA:67943).

Underdevelopment of the ventral portion of the `pons`

Underdeveloped `posterior communicating artery` (FMAReduction of neurologic reflexes such as the knee-jerk rReduced intensity of muscle tendon reflexes in the lower Reduced intensity of muscle tendon reflexes in the upper

Hypothalamic gonadotropin-releasing hormone (GNRH) deficiencyThe presence of a `hamartoma` of the `hypothalamus`

Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in A type of `hypothyroidism` (HP:0000821) that results froDecreased secretion of luteinizing hormone-releasing Hypsarrhythmia is abnormal interictal high amplitude wAuras with an alteration of actual percepts involving the

A loss or impairment of the sensation of the relative positA reduced sense of touch (tactile sensation) on the skin oA decrease in the ability to perceive vibration in the distaReduced ability to perceive painful stimuli.A loss or impairment of the sensation of the relative positDifficulty in social interactions related to an impairmentA reduced ability to participate in the back and forth floA reduced sense of touch (tactile sensation). This is usuaA reduced ability to discriminate between different tempA reduced ability to identify precisely the site of a touchA reduced ability to distinguish tactile sensations at poReduced ability to use nonverbal behavior for communicaA decrease in the ability to perceive vibration at the anklA decrease in the ability to perceive vibration in the legsA decrease in the ability to perceive vibration. ClinicalReduced ability affecting mainly visuospatial cognition

Incapability to ambulate.

Increased concentration of interferon alpha in the cerebrIncreased concentration of lactate in the cerebrospinal flIncreased concentration of protein in the cerebrospinal flAn elevated concentration of lactate in the caudate nucLipofuscin (age pigment) is a brown-yellow, electron-denLipofuscin, a generic term applied to autofluorescent lipoAn increase of the pressure inside the cranium (skull) anLipofuscin, a generic term applied to autofluorescent lipoEncephalopathy with onset in the infantile period.Infantile spasms represent a subset of "epileptic spasms".Underdevelopment of the inferior portion of the `vermis

Subnormal intellectual functioning which originates durinBorderline intellectual disability is defined as an intelligMild intellectual disability is defined as an intelligence qModerate mental retardation is defined as an intelligenceProfound mental retardation is defined as an intelligenceThe term progressive intellectual disability should be useSevere mental retardation is defined as an intelligence q

An oscillatory cerebellar ataxia that tends to be absent Episodes or attacks of ataxia typically lasting from 10 mHistory of repeated intermittent involuntary muscle contrThe presence of `calcium deposition` (MPATH:36) in the A cystic lesion originating within the brain.A congenital inclusion cysts that arises from the inclusiA congenital inclusion cysts that arises from ectodermal `Hemorrhage` (MPATH:119) occurring within the `skull`

An arachnoid cyst located within the ventricular system.

Involuntary contractions of muscle leading to involuntary

An abnormal build up of iron (Fe) in brain tissue.An abnormal build up of iron (Fe) in the `globus palliduAn anomalous build up of iron (Fe) in the `substantia ni

Irregular loops and focal folding of myelin sheaths

A subjective feeling that an experience which has occurreReduced intensity of muscle tendon reflexes in jaw.

Damage to cerebral nuclei caused in infants by highly incA kinked appearance of the brainstem, i.e., an exaggerat.Clonus is an involuntary tendon reflex that causes repea

An intraneuronal inclusion body composed of acid muco

Increased size of the `basal ganglia` (FMA:84013).A form of focal dystonia that affects the vocal cords, as

A state of disinterestedness, listlessness, and indifferenLeukodystrophy refers to deterioration of white matter oThis term describes abnormality of the white matter of t

A kind of `ataxia` (HP:0001251) that affects movements oA type of `dysmetria` (HP:0001310) involving the limbs.A type of dystonia (abnormally increased muscular tone Fasciculations affecting the musculature of the arms and

A congenital absence of the convolutions of the cerebralA type of holoprosencephaly in which most of the right an

A type of aganglionic megacolon in which the aganglioni

A reduced concentration of `5-methyltetrahydrofolate(2-)`

Set definition of ID:0000013 to "EEG with an amplitude l

A motor disorder characterized by a velocity-dependent iIncreased size of cerebral gyri, often associated with a

Malignant neoplasm of the central nervous systemA state of abnormally elevated or irritable mood, arousalA rapidly growing embryonic tumor arising in the posterioEnlargement of all or parts of the cerebral hemispheres.An impairment of memory as manifested by a reduced abi`Calcium deposition` (MPATH:36) affecting the `MeningThe presence of a `meningioma` (MPATH:251), i.e., a be`Inflammation` (MPATH:212) of the `meninges` (FMA:23Protrusion of the meninges through a defect of the verteLoss of previously present mental abilities, generally in a

Narrowing or constriction of the inner surface (lumen) o

Migraine is a chronic neurological disorder characterizA type of `migraine` (HP:0002076) in which there is an Repeated headache attacks lasting 4-72 h fulfilling at leA mild delay in the acquisition of the ability to use lanA kind of `ventriculomegaly` (HP:0002119) occurring inA mild delay in the achievement of motor or mental mileA mild delay in the acquisition of the ability to understa

Mixed demyelinating and axonal polyneuropathyAuras which reflect ictal dysmnesia such as: feelings as fA moderate delay in the acquisition of the ability to usA moderate delay in the achievement of motor or mental A moderate delay in the acquisition of the ability to undAn abnormal appearance of the midbrain in axial magnetA focal lesion of a single peripheral nerve. Damage to a

An exaggeration of emotional affects such as laughing c

A structural abnormality of the `central nervous systemAny structural abnormality of the `pyramidal tract` (FMA:Impairment of expressive language and relative preservat

Progressive impairment of function of motor axons with mBlockade of impulses at a focal site along the course ofA type of `Developmental delay` (HP:0001263) characterizLoss of previously present motor (i.e., movement) abiliti

Movement-based tics affecting discrete muscle groups.A noninflammatory, progressive occlusion of the intracrani

A abnormality in cerebral electrical activity recorded al

Fine, rapid twitching of individual muscle fibers with lit

The presence of excessive redundant myelin in the periA type of gliosis that occurs in the vicinity of injured neuInflammation of the `spinal cord` (FMA:7647).Protrusion of the meninges and portions of the spinal co

Absence seizures that are additionally characterized bySeizures with sudden loss or diminution of muscle tone w

Very brief, involuntary random muscular contractions ocSuccessive and rapid contractions of motor units associaHabitual biting of one's own fingernails.

A type of encephalopathy (brain disease, damage, or malfA `neoplasm` (MPATH:218) of the `central nervous sysA `neoplasm` (MPATH:218) affecting the `nervous systA benign or malignant `neoplasm` (MPATH:218) (tumour)

Neuroblastoma is a solid tumor that originate in neuralProgressive loss of neural cells and tissue.A deviation from normal of the neurological development o

Pathological protein aggregates formed by hyperphosphorThe presence of multiple cutaneous neurofibromas.

A reduction in the number of nerve cells in the `basal g

A form of `hydrocephalus` (HP:0000238) in which the flow

A form of `hydrocephalus` (HP:0000238) characterized bRecurrent obsessions or compulsions that are severe enoThe presence of one or more obsessive-compulsive persona

A condition characterized by obstruction of the airway anAtypical absence lasting for more than 30 minutes.Neurofibromas present in a smaller number than usually Atrophy of the `occipital cortex` (FMA:67325).

A distinct type of headache characterized by piercing, thA type of `dyssynergia` (HP:0010867) affecting eye movemeAn acute dystonic reaction with blepharospasm, periorbitAuras with sensation of odor, usually disagreeable.

Degeneration of the olivary bodies, prominent oval strucNeuronal degeneration in the cerebellum, pontine nuclei, Hypoplasia of the cerebellum, pontine nuclei, and inferioRepeated episodes of segmental demyelination and remyelUnderdevelopment of the operculum.

An enduring pattern of uncooperative, defiant, and hostilA `glioma` (HP:0009733) originating in the `optic nerveReluctance or refusal of a child to be breastfed or eat,

A kind of focal dystonia characterized by forceful contra

A form of hypotension characterized by a sudden fall inOrthostatic hypotension due to autonomic dysfunction

An increase in heart rate with standing of 30 beats per Osteomyelitis or necrosis, distal, due to sensory neuropathy (feet)

A form of hypersociability that presents as mostly inappA congenital abnormality of the cerebral hemisphere chacAn unpleasant sensory and emotional experience associaInability to perceive painful stimuli.Palatal myoclonus is characterized by myoclonic (rhythmiNeurodegeneration involving the globus pallidus,a part of

A carotid body tumor (also called paraganglionoma or che

A cranial nerve palsy associated with a paraganglioma oParalysis of voluntary muscles means loss of contraction Paralysis of voluntary muscles means loss of contraction A persecutory delusion of supposed hostility of others.Weakness or partial paralysis in the lower limbs.Severe or complete weakness of both lower extremities wWeakness of both lower extremities with sparing of the up

Abnormal sensations such as tingling, pricking, or numbAtrophy of the `parietal cortex` (FMA:61826).Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in tCharacteristic neurologic anomaly resulting form degenera

Parkinsonism with favorable response to dopaminergic medication

Episodes of choreoathetosis that can occur following trAttacks of disabling daytime drowsiness and low alertneEpisodic bouts of involuntary movements with dystonic, cA form of dystonia characterized by episodes of dystoniRepeated episodes of sudden-onset and transient `lethCongenital absence of a part of the `vermis of cerebellA partial failure of the development of the corpus callosEEG dominated by diffuse beta waves (>13 Hz) with occipPatchy loss of myelin from nerve fibers in the central n

Episodes of muscle weakness associated with elevated leEpisodes of muscle weakness associated with reduced leEpisodes of muscle weakness.The presence of a `peripheral` (PATO:0002107) `schwAtrophic changes of `axons` (FMA:67308) of the peripheProgressive deterioration of peripheral axons.An abnormality characterized by disruption of the normaA loss of myelin from the internode regions along myelinDefective structure and function of myelin sheaths.Reduced amount of myelin in the nervous system resulti

Peripheral neuropathy is a general term for any disorderAn excessive number of small gyri (convolutions) on the sIncreased dimensions of the Virchow-Robin spaces (also

A form of gray matter heterotopia were the mislocalized

Multiple areas of darker than expected signal on magnetAn abnormal shift in patterns of thinking, acting, or feelinAn abnormality of mental functioning affecting the personPheochromocytomas (also known as chromaffin tumors) pInvoluntary sounds produced by moving air through the noAn abnormally heightened sensitivity to loud sounds.

Generalized tonic-clonic seizures that are triggered by flaAn appetite for and the persistent ingestion of non-foodA `neoplasm` (MPATH:218) of the `pineal gland` (FMA:Deposition of calcium salts in the pituitary gland.A neurofibroma in which Schwann cells proliferate inside

A congenital abnormality of the cerebral hemisphere char

Focal epileptiform discharges of different shapes and frA generalized disorder of peripheral nerves.A neurological anomaly with gross overeating associatedAtrophy affecting the pons and the cerebellum.

Difficulty in looking at another person in the eye.

A morphological abnormality of the `metencephalon` (FA disorder of the brain in which a cyst or cavity filled wThe patient stands with the feet placed together and balaNarrowing or constriction of the inner surface (lumen) of

Postural hypotension with compensatory tachycardia

A type of tremors that is triggered by holding a limb in a Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in t

Primitive reflexes (palmomental, snout, glabellar)A profound delay in the achievement of motor or mental

Progressive extrapyramidal movement disorderA progressive degree of muscular rigidity (continuous c

A type of `gait ataxia` (HP:0002066) displaying progressio

Progressive loss of previously present language abilitiesLeukoencephalopathy that gets more severe with time.

Spasticity that increases in degree with time.

Prolonged brainstem auditory evoked potentialsAn abnormal prolongation of the miniature endplate potent

Inability to recognize faces of familair persons.Individuals with `Pseudobulbar signs` (HP:0002200) oftBilateral impairment of the function of the cranial nerPseudobulbar signs result from injury to an upper motor Auras with affective, mnemonic or composite perceptual Loss of previously present mental and motor abilities.A condition characterized by changes of personality and

A delay in the acquisition of the ability to understand thAn increased susceptibility to bacterial meningitis as manRecurrent bleeding into the parenchyma of the brain.Recurrent episodes of brain dysfunction that may be trigA type of stereotypic behavior in which the affected inAn increased susceptibility to meningitis as manifested b

Decreased concentration of `dopamine` (CHEBI:18243) inA decrease in the level of N-acetyl aspartate in the bra

Diminution of tendon reflexes, which is an invariable sig

A resting tremor occurs when muscles are at rest and bA feeling of uneasiness and restlessness in the legs af

Behavior characterized by an abnormal limitation to few i

Continuous involuntary sustained muscle contraction. WheThick, elongated, worm-like or corkscrew eosinophilic bu

The presence of a cleft in the cerebral cortex unilaterally A mental disorder characterized by a disintegration of tA benign nerve sheath tumor composed of Schwann cellA form of gait abnormality characterized by hypertonia A loss of myelin from the internode regions along myeliA segmental pattern of demyelination and regeneration (rSeizures are an intermittent `abnormality of the centraHabitual biting of one's own body.Aggression towards oneself.

Self-mutilation of tongue and lips due to involuntary movementsA type of holoprosencephaly in which the left and right frSenile plaques are extracellular deposits of amyloid in th

Sensorimotor polyneuropathy affecting arms more than legsIncoordination of movement caused by a deficit in the s

An axonal neuropathy of peripheral sensory nerves.An abnormality of the primary sensation that is mediated Peripheral neuropathy affecting the sensory nerves.A severe loss of myelin from nerve fibers in the centralA severe delay in the acquisition of the ability to use A severe delay in the achievement of motor or mental mi

A severe delay in the acquisition of the ability to unders

Reduced attention span characterized by distractibility and

A type of aganglionic megacolon in which the aganglion

Discomfort and partial inhibition of the usual forms of bFebrile seizures with generalized tonic-clonic semiologyRepetitive and compulsive picking of skin which results An intermittent cessation of airflow at the mouth and nAn abnormality of sleep including such phenomena as 1)Myoclonus that occurs during the initial phases of sleep.

Abnormal coordination of muscles involved in speech.Decreased size of the `basal ganglia` (FMA:84013).Reduced size of the `cerebral cortex` (FMA:61830).

Auras with sensation of tingling, numbness, electric sh

Spasticity (neuromuscular hypertonia) primarily in the muA type of dysarthria related to bilateral damage of the up

Unilateral paralysis with spasticity of the affected musc

Spasticity and weakness of the leg and hip muscles.Spastic weakness affecting all four limbs.Spastic paralysis affecting all four limbs.A motor disorder characterized by a velocity-dependent i

Impairment of certain skills such as reading or writing, cooA type of apraxia that is characterized by difficulty orIncomplete closure of the embryonic neural tube, whereThe closed form of spina bifida with incomplete closure ofThe closed form of spina bifida with incomplete closure of

External mechanical compression of the spinal cord.

A `neoplasm` (MPATH:218) affecting the `spinal cord` A heterogeneous group of congenital spinal anomalies that A 'hemangioblastoma` (HP:0010797) of the `spinal cordAn outpouching of the spinal meninges.

Spinal myoclonus is generally due to a tumor, infection,Neurofibromas originating in the spine.Presence of arachnoid cysts of the spinal canal extraduraAtrophy affecting the cerebellum and the spinocerebellar

Spontaneous pain is a kind of neuropathic pain which occuSeizures lasting for more than 30 minutes or longer or

An abnormal gait pattern that arises from weakness of thA repetitive behaviour that does not serve an observable Habitual repetitive movement of the body.Habitual clasping and squeeezing of the hands.Sudden impairment of blood flow to a part of the brain due

`Hemorrhage` (MPATH:119) occurring between the `aracAtrophy of the cerebral subcortical white and gray matter,A particular type of dementia characterized by a pattern

The presence of `Neurofibromas` (HP:0001067) in the su`Hemorrhage` (MPATH:119) occurring between the `dura

A demarcated, largely intraventricular tumor in the regSmall nodular masses which originate in the subependymaThe presence of `gliosis` (MPATH:182) in the `substanti

An arachnoid cyst that progressively enlarges from an ab

A symmetric loss of myelin from the internode regions aMultiple neurofibromas of the spinal nerve roots with a sA symmetric and progressive loss of myelin from the intA seizure that occurs in the context of a brain insult (Dilated, glial-lined cavity in spinal cord. This cavity doA darker than expected T2 signal on magnetic resonance imA darker than expected T2 signal on magnetic resonance iA darker than expected T2 signal on magnetic resonance iAtrophy of the `temporal cortex` (FMA:61825).A type of headache that last hours with continuous pain ofDuring normal embryological development, the spinal cord Weakness of all four limbs.Paralysis of all four limbs, and trunk of the body below thReduced uptake of [18F]-fluorodeoxyglucose (FDG) in

Increased vertical dimension of the corpus callosum. ThIncreased width of the `superior cerebellar peduncle` (A tic is a sudden, repetitive, nonrhythmic, stereotyped

Sustained involuntary muscle contractions that produceExcessive bending, twisting, and winding of a cerebral arA type of aganglionic megacolon in which the aganglioniA congenital defect characterized by the lack of ganglion A paroxysmal, transient loss of memory function with pr

An unintentional, oscillating to-and-fro muscle movementA neuropathic disorder characterized by episodes of intenTriplication of the spinal cord - extremely rare.Trophic changes is a term used to describe abnormalities i`Trophic changes` (HP:0010834) occuring in a limb.

A kind of `ataxia` (HP:0001251) that affects the proximal A form of `lissencephaly` (HP:0001339) in which the cortA form of `lissencephaly` (HP:0001339) characterized by Typical absences are brief for seconds generalized epileNuclear or cytoplasmic aggregates that show positive stainEpileptiform discharges identified at multiple locationsEpileptiform discharges being identified at multiple locaExcessive number of small gyri (convolutions) on the surfA unilateral vestibular Schwannoma (acoustic neurinoma

A type of tremors that is triggered by holding an arm in a

A sensation consistent with involvement of the autonomiAn increase in size of the ventricular system of the brainTonic seizures with a sustained, forced conjugate ocular, A vestibular Schwannoma (also known as acoustic neuromaOvergrowth of the `choroid plexus` (FMA:61934).

Auras with sensation of flashing or flickering lights, spo

A wavering, unsteady voice that reflects involuntary and

White mater abnormalities in the posterior periventricular region

An increase in size of the anatomic space between the An increase in size of the anatomic space between the An increase in size of the anatomic space between theA focal dystonia of the fingers, hand, and/or forearm thThe closed form of spina bifida with incomplete closure of

`Distention` (PATO:0001602) of the `abdomen` (FMA:95Pain perceived to originate in the abdomen.A left-right reversal (or "mirror reflection") of the anat

An `incomplete closure` (PATO:0000609) of the `abdomi`Decreased strength` (PATO:0001779) of the `abdominaA structural abnormality of the `biliary tree` (FMA:14665)A functional abnormality of the `biliary tree` (FMA:14665A structural anomaly of the `gallbladder` (FMA:7202).A functional anomaly of the `gallbladder` (FMA:7202).A functional anomaly of the large intestine.

Abnormal liver function tests during pregnancy

A deviation from the normal size of the pancreas.An abnormality of the abdominal situs, i.e., of the sidedA function abnormality of the endocrine pancreas.A functional anomaly of the acinar gland portion of the

An anomaly of the function of the pancreas.Abnormality of small intestinal villus morphology

Abnormality of the `abdomen` (FMA:9577) ('belly'), that iAn abnormality of the `abdominal musculature` (FMA:86An abnormality of the `viscera of the abdomen` (FMA:25The presence of any abnormality affecting the `abdominAbnormality of the `anal canal` (FMA:15703).An abnormality of the `biliary system` (FMA:79646).Any abnormality of the `diaphragm` (FMA:13295).An abnormality of the `Common bile duct` (FMA:14667), aAn abnormality of the duodenum, i.e., the first section of An abnormality of the `esophagus` (FMA:7131).An abnormality of the `gallbladder` (FMA:7202).An abnormality of the `gastric mucous membrane` (FMAAn abnormality of the `gastrointestinal tract` (FMA:71132An abnormality of the `hepatic vasculature` (FMA:73748)

An abnormality of the `intestine` (FMA:7199). The closelyAn abnormality of the `intrahepatic bile duct` (FMA:1576An abnormality of the `jejunum` (FMA:7207), i.e., of the mAny abnormality of the `large intestine` (FMA:7201).An abnormality of the `liver` (FMA:7197).Folds of membranous tissue (peritoneum, mesothelium) atAn abnormality of the `pancreas` (FMA:7198).An abnormality of the islet of Langerhans, i.e., of the rAn abnormality of the `peritoneum` (FMA:9584).An abnormality of the `pylorus` (FMA:14581).An abnormaltiy of the `rectum` (FMA:14544), the final segAn abnormality of the `small intestine` (FMA:7200).An abnormality of the `spleen` (FMA:7196).An abnormality of the `stomach` (FMA:7148).Abnormality of the `umbilicus` (FMA:61584).Absence of `gastric intrinsic factor` (PRO:000007975), whA developmental defect in which the `gallbladder` (FMA:7Congenital absence of the left half of the diaphragm.An accessory spleen is a round, iso-echogenic, homogeniA disorder of esophageal motility characterized by the inClay colored stools lacking bile pigment.An acute and self-limited inflammatory disease of the laConstipation of sudden onset and lasting for less than tA condition characterized by necrosis of the mucosal andHepatic failure refers to the inability of the liver to peAn `acute` (PATO:0000389) form of `hepatic steatosis`

A `acute` (PATO:0000389) form of `pancreatitis` (HP:00Presence of multiple adenomatous polyps in the colon.Congenital lack, i.e., `aplasia` (MPATH:58) of the `diaFailure to develop of the small intestine.Congenital absence of the anus, i.e., the opening at the b

A small tear in the thin, moist tissue (mucosa) that lineAn abnormal connection between the epithelialised surfacLeukoplakia is a precancerous dermatosis of mucous membrAbnormal narrowing of the anal opening.A congenital anomaly in which the pancreas completely

An abnormality of the anus or rectum.A lack or loss of appetite for food (as a medical conditionAnterior malposition of the anus.Absence of the `abdominal musculature` (FMA:86917).Absence or underdevelopment of the `abdominal musculCongenital absence or underdevelopment of the colon.Absence or underdevelopment of the `diaphragm` (FMAAbsence or underdevelopment of the `gallbladder` (FMAA congential underdevelopment (aplasia or hypoplasia) Absence or underdevelopment of the `spleen` (FMA:719Accumulation of fluid in the peritoneal cavity.Absence (aplasia) of the `spleen` (FMA:7196).Failure of formation of the lumen of the gallbladder, oft

An abnormal change (metaplasia) in the cells of the infer

Proliferative changes of the `bile ducts` (FMA:9706).`Atresia` (PATO:0001819) in of the `biliary tree` (FMA:1Progressive destruction of the small-to-medium bile ductsA motility disorder characterized by biliary colic in the `Hyperplasia` (MPATH:134) of the `biliary tree` (FMA:1466An abnormality of the `biliary tree` (FMA:14665).A `neoplasm` (MPATH:218) of the `biliary system` (FMA`Obstruction` (MPATH:80) affecting the `biliary tree` (FThe presence of a `bilobed` (PATO:0002214) `gallbladderA type of pigment gallstone that is hard and black, conThe presence of `multiple` (PATO:0002118) `diverticula`Involuntary fecal soiling in adults and children who have A sudden, irresistible need to have a bowel movement.A type of pigment gallstone that is brown, containing cal

The presence of `inflammatory` (PATO:0002104) changesHard, pebble-like deposits that form within the `gallbladImpairment of bile flow due to obstruction in bile ducts.

Gallstones composed primarily of cholesterol, usually ab

A form of `chronic gastritis` (HP:0005231) associatedA form of `chronic pancreatitis` (HP:0006280) that is chA chronic inflammatory disease of the large intestine (cConstipation for longer than three months with fewer thThe presence of chronic `diarrhea` (HP:0002014), which A `chronic` form of `gastritis` (HP:0005263).

Chronic hepatitis due to cryptospridium infectionA `chronic` (PATO:0001863) form of `pancreatitis` (HP:Extravasation of chyle into the peritoneal cavity.A chronic disorder of the `liver` (FMA:7197) in which livColitis refers to an inflammation of the colon and is ofte

A developmental defect resulting in complete obliterationThe presence of `multiple` (PATO:0002118) `diverticulaThe inability of the colon to modify stool to an acceptaA narrowing of a segment of colon whereby bowel continuThe presence of varices (enlarged and convoluted blood

The presence of a `hernia` (MPATH:75) of the `diaphragThe presence of `fibrosis` (MPATH:181) of that part of t`Congenital` (HP:0003577) atresia of the `pylorus` (FMAInfrequent or difficult evacuation of feces.A chronic granulomatous inflammatory disease of the inte

Reduced ability of the liver to perform its functions.Decreased activity of complex II Of the mitochondrion in tThe presence of `degenerative` (PATO:0000639) changesA delay in the development of skills required to feed oneInterruption of the innervation of the `diaphragm` (FMA:An abnormal reduction in the number of mitochondria inBenign, slow-growing tumors without any metastatic potenA congenital failure of muscular development of part or The presence of a `paralyzed` (PATO:0000763) `diaphA decrease in the strength of the diaphragm.Abnormally increased frequency of loose or watery bowA separation of the rectus abdominis muscle into right andA `diffuse` (PATO:0001513) form of `hepatic steatosis`

A developmental defect resulting in complete obliteratioWasting or decrease in size of all or part of the duoden

Presence of multiple polyps in the duodenum.The narrowing or partial blockage of a portion of the dAn erosion of the mucous membrane of in a portion of

An abnormal (non-anatomic) location of the `spleen` (FAbnormal displacement or malposition of the anus.The presence of pancreatic tissue outside the normal paElevations of the levels of SGOT and SGPT in the serumElevations of the levels of SGOT (serum glutamic oxaloAn inflammation of the colon and small intestine. However,

An `intermittent` (PATO:0000690) form of `abdominal pParoxysmal, recurrent episodes of vomiting.A developmental defect resulting in complete obliteratiThe presence of a `carcinoma` (MPATH:549) of the `esThe presence of a `diverticulum` (MPATH:68) of the `eA developmental disorder in which there is a duplicationA white patch or plaque occurring on the surface of the

An abnormal narrowing of the lumen of the esophagus.A pathological narrowing of the esophagus that is causedDefect in the epithelium of the esophagus, essentially anExtreme dilation of the submucusoal veins in the lower pThin (2-3mm) membranes of normal esophageal tissue consiInflammation of the esophagus.Impaired function of the exocrine pancreas associated wiEversion of a hollow organ and exposure, inside out, an`Atresia` (PATO:0001819) in the `extrahepatic bile ductImpairment of bile flow due to obstruction in large bile du`Increased pressure` (PATO:0001576) in the `pre-hepatiAbnormality of the absorption of fat from the gastrointesti

Impaired ability to eat related to problems gathering fooImpaired feeding performance of an infant as manifested bA hernia which occurs just below the inguinal ligament,Intermittently `increased size` (PATO:0000586) of the `lIntermittently `increased size` (PATO:0000586) of the `Increased susceptibility to Giardia lamblia infection of thHepatic failure refers to the inability of the liver to peAcute hepatitis complicated by acute liver failure with h`Abnormal` (PATO:0000460) `functionality` (PATO:0001509

Reduced motility of the gallbladder with reduced emptyin

Gastric duplication is a usually cystic malformation of g`Hypertrophy` (MPATH:159) of the `stomach` (FMA:7148An `ulcer` (MPATH:579), that is, an erosion of an areaThe presence of `inflammation` (MPATH:212) of the `gA condition in which the stomach contents leak backwar`Dysplasia` (MPATH:589) affecting the vasculature of the

A spherical hollow structure with a smooth muscle coat, Abnormal intestinal contractions, such as spasms and int`Hemorrhage` (MPATH:119) affecting the `gastrointestin

`Telangiectasia` (MPATH:476) affecting the`gastrointest`Decreased strength` (PATO:0001779) of the `Muscle layA type of congenital ventral `incomplete closure` (PATO:Feeding problem necessitating gastrostomy tube feeding

A type of `gastritis` (HP:0005263) characterized by excesPolyp-like protrusions which are histologically hamartomPolyp-like protrusions which are histologically hamartom

The vomiting of blood.The passage of fresh (red) blood per anus, usually in orBleeding into the biliary tree.Accumulation of blood in the peritoneal cavity owing to

A form of `amyloidosis` (HP:0011034) that affects the liv

Hepatic fibrosis that reaches from a portal area to anothe

The presence of `fibrosis` (MPATH:181) of the `liver` (FThe presence of multiple granulomas in the liver as basThe presence of `necrosis` (MPATH:4) affecting the `livA type of `hepatic necrosis` (HP:0002605) that is concenThe presence of `steatosis` (MPATH:622) in the `liver`

Inflammation of the liver.A kind of `neoplasm of the liver` (HP:0002896) that origiA benign tumor of the liver of presumably epithelial origiA kind of `neoplasm of the liver` (HP:0002896) that orig

Abnormally `increased size` (PATO:0000586) of the `livSimultaneous `enlargement` (PATO:0000586) of the `liv

The presence of a hernia in the `abdominal wall` (FMA:The presence of a `hernia` (MPATH:75) in which the uppe

Presence of multiple hyperplastic polyps in the colon. HA malfunctioning of the `spleen` (FMA:7196) in which it

Underdevelopment of the `abdominal musculature` (FMThe presence of a `hypoplastic` (PATO:0000645) `gallbUnderdevelopment of the small intestine.Underdevelopment of the colon.Underdevelopment of the `spleen` (FMA:7196).An abnormal closure, or `atresia` (PATO:0001819) of theAcute obstruction of the intestines preventing passage ofAn abdominal hernia that occurs at a site of weakness iAn increase in the amount of glycogen stored in hepatoAn abnormal increase in the amount of intracellular lipid

Protrusion of the contents of the abdominal cavity throug

Jaundice that is sometimes present, sometimes not.An abnormal closure, or `atresia` (PATO:0001819) of the Bleeding from the intestines.A developmental disorder in which there is a duplication thAccumulation of cell free, noninflammatony fluid within thAn abnormal connection between the gut and another holloDevelopmental hypoplasia of the `intestine` (FMA:7199)Angiectasia of lymph vessels (i.e., dilatation of lymphaticFluid retention and edema in the intestine caused by aA lymphoproliferative abnormality of the intestine charaAn abnormality of the intestinal rotation and fixation thaBlockage or impairment of the normal flow of the contentsA discrete abnormal tissue mass that protrudes into the lThe presence of multiple polyps in the intestine.A functional rather than mechanical obstruction of the in

The presence of `cyst` (MPATH:62) of the `intrahepatic `Atresia` (PATO:0001819) in the `intrahepatic bile duct

Impairment of bile flow due to obstruction in the small bil

An abnormality of the `intestine` (FMA:7199) in which partYellow pigmentation of the skin or sclera due to bilirubin,A developmental defect resulting in abnormal closure, or

The presence of more than 5 juvenile polyps of the colon

An inability to digest lactose.

The presence of an `abscess` (MPATH:608) of the `liveA type of `cirrhosis` (HP:0001394) characterized by the A form of `hepatic steatosis` (HP:0001397) characterized Impaired ability to absorb one or more nutrients from the

An anatomical anomaly that results from an abnormal rotaA deviation from the normal rotation of the midgut durin

Meckel's diverticulum is a congenital diverticulum locatedObstruction of the intestine due to abnormally thick mecThe passage of blackish, tarry feces associated with gastA colon of abnormally small caliber.

A type of `cirrhosis` (HP:0001394) characterized by theA form of `hepatic steatosis` (HP:0001397) characterized

A type of `cirrhosis` (HP:0001394) characterized by the Abnormal structure of the gastrointestinal tract.

The presence of multiple areas of `atresia` (PATO:000181Regurgitation of milk through the nose.Feeding problem necessitating nasogastric tube feedingA sensation of unease in the stomach together with an u

The presence of a `neoplasm` (MPATH:218) of the `gallThe presence of a `neoplasm` (MPATH:218) of the gastroiThe presence of a `neoplasm` (MPATH:218) of the large The presence of a `neoplasm` (MPATH:218) of the `liveThe presence of a `neoplasm` (MPATH:218) of the `pan

The presence of a `neoplasm` (MPATH:218) of the small The presence of a `neoplasm` (MPATH:218) of the `stoDiffuse benign transformation of the hepatic parenchyma A midline anterior `incomplete closure` (PATO:0000609) The presence of an `adenocarcinoma` (MPATH:268) of t`Aplasia` (MPATH:58) of the `pancreas` (FMA:7198).A cyst of the pancreas that possess a lining of mucous eThe presence of `developmental dysplasia` (MPATH:64)

`Hyperplasia` (MPATH:134) of the `pancreas` (FMA:719`Hypoplasia` (MPATH:133) of the `pancreas` (FMA:7198Hyperplasia of the islets of Langerhans, i.e., of the regioThe presence of `lymphangiectasis` (MPATH:98) in the Cyst-like space not lined by epithelium and contained wiA subtype of ductal pancreatic carcinoma that is thoughtThe presence of `inflammation` (MPATH:212) in the `paA rare pediatric carcinoma of the pancreas.

Failure to form of portions of the `abdominal musculatAn `ulcer` (MPATH:579) of the `gastrointestinal tract` (The presence of an abscess located around the anus.The presence of a rash (change of color and texture) of tThe presence of `fibrosis` (MPATH:181) affecting the `inThe presence of an `abscess` (MPATH:608) of the `perA `Malignant mesothelioma` (HP:0100001) originating fr`Inflammation` (MPATH:212) of the `peritoneum` (FMA:Gallstones composed primarily of bilirubin and calcium sa

Polysplenia is a congenital disease manifested by multi

An inadequate sucking reflex, resulting in the difficult oFibroblast proliferation and fiber expansion from the port`Increased pressure` (PATO:0001576) in the `portal veiPosterior malposition of the anus.Vomiting that ejects the gastric contents with great forceNeonatal jaundice refers to a yellowing of the skin and otAbnormally prominent umbilicus (belly button).

Abnormal loss of protein from the digestive tract related

A thrusting or bulging out of the abdomen.

A kind of congenital defect of the anterior `abdominal waAn abnormal narrowing of the `pylorus` (FMA:14581).A collection of pus in the area of the rectum.The presence of multiple rectal hyperplastic/adenomatouProtrusion of the rectal mucous membrane through the `Recurrent` (PATO:0000427) infection of the `gastrointesA `recurrent` (PATO:0000427) form of `pancreatitis` (HA contraction of the diaphragm that repeats several timesThe presence of `reduced numbers of ` (PATO:0001999) Reduced number of beta cells in the pancreatic islets o

Watery voluminous diarrhea resulting from an imbalanceA left-right reversal (or "mirror reflection") of the anat

Bleeding from the small intestine.Abnormal small intestinal contractions, such as spasms aA discrete abnormal tissue mass that protrudes into the lThe narrowing or partial blockage of a portion of the smalReduced motility through the `sphincter of Oddi` (FMA:1A breach of the capsule of the spleen.Abnormal `increased size` (PATO:0000586) of the `spleThe occurrence of the full-thickness tear (perforation) ofGreater than normal amounts of fat in the feces. This is a An ulcer of the colon due to pressure and irritation fromA cancer arising in any part of the stomach.

The presence of two or more accessory spleens.A repeated, painful urge to defecate without excreting stAn abnormal connection (fistula) between the esophagusA chronic inflammatory bowel disease that includes charaProtrusion of abdominal contents through a defect in thVentral hernia refers to a condition in which abdominal The enteric villi are atrophic or absent.Inflammation of the liver due to infection with a virus.Abnormal `increased size` (PATO:0000586) of the `viscAbnormal twisting of a portion of intestine around itself Forceful ejection of the contents of the stomach throughA condition in which there is increased production of ga

Excessive fat around the stomach and abdomen.A deviation from normal of the relation between the uppDeviation from the norm of height with respect to that An abnormal increase or decrease of weight or an abnormA growth pattern that displays an abnormal difference bet

Severe weight loss, wasting of muscle, loss of appetite,

Truncal obesity with onset during childhood, defined as

A kind of `short stature` (HP:0004322) in which differentA type of `disproportionate short stature` (HP:0003498) A tall and slim body build with increased arm span to heiA body habitus that is tall, slim and underweight, with Failure to thrive (FTT) refers to a child whose physical g

A deficiency or slowing down of growth pre- and postnata

Elevated ratio between the upper and the lower segment An abnormal restriction of fetal growth with fetal weight The term large for gestational age applies to babies whos

A type of `disproportionate short stature` (HP:0003498) cIntrauterine growth retardation that is at least 2 standaA mild degree of slow or limited growth after birth, beiA mild degree of short stature, more than -2 SD but notIntrauterine growth retardation that is at least 3 standaA moderate degree of slow or limited growth after birthA moderate degree of short stature, more than -3 SD buA type of short-limbed dwarfism that is manifest beginninBody weight that is grossly above the acceptable or desExcessive postnatal growth which may comprise increaseSlow or limited growth after birth.

A kind of `short stature` (HP:0004322) in which differen

Decreased ratio between the upper and the lower segment

Intrauterine growth retardation that is 4 or more standaSeverely slow or limited growth after birth, being four A severe degree of short stature, more than -4 SD from

A height below that which is expected according to age Asthenic habitus refers to a slender build with long limbSmaller than normal size according to sex and gestationaA height above that which is expected according to ageObesity located preferentially in the trunk of the body asReduction inexisting body weight.

The presence of one or more bullae on the skin, defined aAn abnormality of dermatoglyphs (fingerprints), which arAny abnormal increase or reduction in skin elasticity.

An abnormality of the distribution of hair growth.An abnormal amount of hair.An abnormal hair whorl (that is, a patch of hair growing inMore than two clockwise hair whorls.An abnormality of dermatoglyphs on the toes and soles, i.Hair growth from a single point on the scalp in any locatio

An abnormality of the melanosomes, i.e., of the cellularAn abnormality of the morphology of the `epidermis` (FAn abnormality of the density of hair growth.Hair whose growth rate deviates from the norm.An abnormality of hair pigmentation (color).An abnormality of the texture of the `hair` (FMA:53667).An anomaly of the color of the `nail` (FMA:54326).Abnormality of the growth of secondary sexual hair, whiAn abnormality of the skin adnexa (skin appendages), whicAny morphological abnormality of the `skin` (FMA:7163)Any abnormality of the physiological function of the `skiAn abnormality of the `pigmentation` (GO:0043473) of t

Abnormality of the growth of the axillary hair. Axillary hAn abnormality of the `fingernails` (FMA:54327).An abnormality of the `hair` (FMA:53667).An abnormality of the `integument` (FMA:74657), which coAbnormality of the `nail` (FMA:54326).An abnormality of the region around the nails of the fingeAn abnormality of the `plantar part of foot` (FMA:25000), tAbnormality of the growth of the pubic hair. Pubic hair iAn abnormality of the `skin` (FMA:7163).A lesion located beneath a fingernail or toenail.

An abnormality of the `sweat gland` (FMA:59152).An anomaly of the `toenail`(FMA:54328).

Absence of `axillary hair` (FMA:54253).Absence of `facial hair`(FMA:54360).Absence of `nail of little finger` (FMA:54341).

Absence of a `fingernail`(FMA:54327).

Absent `nail of big toe` (FMA:54344).Lack of skin pigmentation (coloring) of the abdomen.Lack of skin pigmentation (coloring) of the arms and legsLack of skin pigmentation (coloring) of the anterior chestAbsence of `pubic hair`(FMA:54319).Lack of skin pigmentation (coloring).Absence of `thumb nail` (FMA:54329).Congenital absence of the `toenail`(FMA:54328).The loss of intercellular connections, such as desmosomeA dermatosis characterized by thickened, hyperpigmented

Accumulation of melanosomes in melanocytesA skin condition in which there is an increase in sebuAn abnormality of the distribution of hair growth that is aA type of cutaneous melanoma localized to the palm, sole

Overgrowth of the stratum corneum characterized by nodu

An abnormal reduction in the amount of pigmentation (reduLoss of hair from the head or body.Loss of round patches of scalp hair.Loss of all scalp hair.Loss of all hair on the entire body.

A type of `pallor` (HP:0000980) that is secondary to thRapid swelling (edema) of the dermis, subcutaneous tissuA vascular lesion defined histologically as one or more d

Inability to sweat.

`Aplasia` (MPATH:58) of the `nail` (FMA:54326).Anterior cervical hypertrichosis (ACH) or 'hairy throat' rA developmental defect resulting in the congenital absenc

A developmental defect resulting in the congenital absenA developmental defect resulting in the congenital absencA developmental defect resulting in the congenital absenc

Aplasia cutis congenita over posterior parietal areaA developmental defect resulting in the congenital absenceAbsence of the `sweat glands` (FMA:59152).`Aplasia` (MPATH:58) or developmental hypoplasia of th

Absence or developmental hypoplasia of the `sweat glaAbsence or developmental hypoplasia of the `eccrine sAbsence or underdevelopment of the `toenail`(FMA:5432

Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines

A chronic inflammatory genetically determined disease of

Atypical nevi (>5mm with irregular edge and pigmentation)

Atypically `scarred` (PATO:0001850) `skin` (FMA:7163) Axillary and groin hyperpigmentation and hypopigmentation

Developmental hypoplasia of the `apocrine sweat glands`An epidermoid cyst in the armpit.

The presence of a `basal cell carcinoma` (MPATH:234) oA digit with two nails, with at least some soft tissue bet

Fragile, easily breakable hair, i.e., with reduced tensile sFragile, easily breakable scalp hair.Increased width of nail.An ecchymosis (bruise) refers to the skin discoloration Cafe-au-lait spots are hyperpigmented lesions that can vA furuncle (boil) is a skin infection involving an entire Persistent overgrowth of Candida albicans in the gastrointChronic infection of the nails by Candida species.Recurrent or persistent superficial Candida infections o

A thickening of the stratum corneum, the outer layer of thHair shafts are rough in texture.The natural longitudinal (posterodistal) convex arch is no

Confetti hypopigmentation pattern of lower leg skin

A congenital abnormality of the distribution of hair growt

Loss of all scalp hair with congenital onset.An ichthyosiform abnormality of the skin that presents at

The giant congenital nevus is greater than 8 cm in size, pAn `ichthyosiform abnormality of the skin` (HP:0008064)

The term collodion baby applies to newborns who appear to

Loss of hair in the occipital region of the scalp with cong

A confluent, generalized overgrowth of silvery blonde to gConnective tissue nevi are hamartomas in which one or sThe contour of the foot in lateral profile has a convex sh

The presence of `leiomyoma` (MPATH:425) of the `skinThe presence of `leiomyosarcoma` (MPATH:426) of the

The presence of a `melanoma` (MPATH:359) of the `skiAn increased sensitivity of the skin to light. PhotosensiWrinkled, redundant, inelastic and sagging skin.A reticular discoloration of the skin with cyanotic (reddA bluish or purplish discoloration of the skin and muco

The presence of `fewer` (PATO:0001999) than normal `

Decreased sweating due to autonomic dysfunctionNarrow, paramedian longitudinal depressions in the plantaThe presence of unusually deep creases (ridges/wrinkles)Deeply placed nails.

Partial or complete wasting (atrophy) of the skin.An abnormally increased ability of the skin to permit ligAn exaggerated wealing tendency when the skin is stroked,

Dermatological manifestations of systemic disorders

Telangiectases (small dilated blood vessels) with a diffus

Discrete 2 to 5-mm hyper- and hypopigmented maculesHair that lacks the lustre (shine or gleam) of normal hair.Skin characterized by the lack of natural or normal moistThe presence of misshapen or partially destroyed nail platToenail changes apart from changes of the color of the toeLoss of scalp hair at an earlier than normal age.Photosensitivity of the skin occurring early in life.Ectodermal dysplasia is a group of conditions in which thEczema is a form of dermatitis. The term eczema is broad

Excessive, increased hair growth located in the elbow re

Epidermal naevi are due to an overgrowth of the epidermThickening of the epidermal layer of the skin.The presence of one or more `cysts` (MPATH:62) of theIntermittent episodes of abnormally increased perspiratiEruptive xanthomas are yellow-orange-to-red-brown papul

Increased susceptibility to erysipelas, as manifested by aRedness of the skin, caused by hyperemia of the capillariAn erythematous eruption commonly associated with drug rAn inflammatory exfoliative dermatosis involving nearly

Excessive skin wrinkling on dorsum of hands and fingers

Redness of the skin of the face, caused by hyperemia of t

Excess facial hair.

Telangiectases (small dilated blood vessels) located nearTelangiectases (small dilated blood vessels) located near Excessive wrinkling of the skin of the face.A lesser degree of hair pigmentation than would otherwiThe presence of two to five cafe-au-lait macules.Hair that is fine or thin to the touch.

An abnormality of the development of the fingernails.Telangiectasia (small dilated blood vessels) located in theLichenification affecting primarily flexural areas of the sk

A skin condition characterized by excessive development of

Nails that easily break.

Absence of hair in the anterior midline and/or parietal arPresence of a cutaneous lipoma on the forehead.Upward and/or sideward growth of anterior hair.A nail plate that has a longitudinal separation with partiaAn abnormality of the skin that is not localized to any one

Abnormally increased hair growth over much of the entir

Generalized excessive, abnormal hairiness.

Reduced pigmentation of hair diffusely.Reduced or lacking hair growth in a generalized distribut

The presence of large spherical melanosomes (1 to 6 miAn uncontrolled autonomous cell-proliferation originating

Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes

Abnormally increased hair growth referring to a male patt

When viewed on end (with the finger tip pointing toward tWhen viewed on end (with the digit tip pointing toward th

A condition in which the skin can be stretched beyond norm

Abnormal excessive perspiration (sweating).Hyperkeratosis is thickening of the outer layer of the skHyperkeratosis lenticularis perstans (HLP), also known

A hyperpigmented circumscribed area of change in normal

A darkening of the skin related to an increase in melani

Hypertrichosis is increased hair growth that is abnormal i

Abnormally diminished capacity to sweat.

Hypomelanotic macules ("ash leaf spots") are white or l

A reduction of skin color related to a decrease in melani

A nail of the fifth finger that is diminished in length and Underdeveloped nails of the fifth toes.Underdevelopment of a `fingernail`(FMA:54327).

Underdevelopment of the sweat glands.A thumbnail that is diminished in length and width, i.e.Underdevelopment of the `toenail`(FMA:54328).

Congenital lack of hair growth.Reduced or lacking hair growth of the scalp.An abnormality of the skin characterized the presence of

Increased groin pigmentation with raindrop depigmentation

The presence of `inflammation` (MPATH:212) of the `skin`Excessive growth of a nail laterally into the nail fold.

Intermittent generalized erythematous papular rash

The formation of bullae (blisters) with cleavage in the `lA systemic disease which can present with cutaneous lPresence of one or more keloids. A keloid is a sharply el

Large hypermelanotic macules with jagged borders.

A subtype of melanoma in situ that typically develops onWhite discoloration of the `nails` (FMA:54326).Thickening and hardening of the epidermis seen with exa

Linear arrays of macular hyperkeratoses in flexural areas

A type of `nevus sebaceous` (HP:0010815) with a linear

Abnormally increased hair growth with a localized distribA lesion of the skin that is located in a specific region rExcessive, increased hair growth located in the lumbar rAbnormally increased hair growth in the lumbosacral reg

Macular hypopigmented whorls, streaks, and patchesA flat, distinct, discolored area of skin less than 1 cm w

Mediosternal, longitudinal streak of hypopigmentation

A oval and round, colored (usually medium-to dark brown,Brown or black discoloration of the `nails` (FMA:54326).Presence of multiple small cysts containing keratin (skin

Mixed hypo- and hyperpigmentation of the skinBluish-grey, spongy nodules associated with scars over Congenital deep dermal melanosis in the sacral area.An exanthema consisting of widespread pink-to-red macuIsolated patches of hardened skin (scleroderma).Patchy and irregular skin pigmentation.

Mottled pigmentation of the trunk and proximal extremities`Telangiectasia` (HP:0001009) of the mucosa, the mucousThe presence of six or more cafe-au-lait spots.The presence of `multiple` (PATO:0002118) `leiomyoma

Presence of an unusually high number of lentigines (singul

Presence of multiple trichilemmomata, a benign tumour ori

Telangiectases in the area of the `nails` (FMA:54326).The presence of `developmental dysplasia` (MPATH:64) Onychodystrophy (nail dystrophy) refers to nail changes a

Small (typically about 1 mm or less in size) depressions Decreased width of nail.

A `neoplasm` (MPATH:218) of the `skin` (FMA:7163).A nevus is a type of hamartoma that is a circumscribed sA macular lesion on the side of the face, involving the cA congenital, hairless plaque consisting of overgrown eA type of melanoma that starts as a raised area that is uPale reddish slightly elevated papules and plaques of 0

Thickened nails without deformity.Thickened toenails.Detachment of the nail from the nail bed.Detachment of the distal fingernails from the nail bed.A squamous cell carcinoma that originates in the orophaThe presence of multiple subcutaneous `lipoma` (MPATHAbnormally `pale` (PATO:0000328) `skin` (FMA:7163).

`Hyperkeratosis` (HP:0000962) affecting the palm of theAn abnormally increased perspiration on palms and soleAbnormal thickening of the skin of the palms of the hands

A tumor of the skin or mucous membrane with finger-likeA circumscribed, solid elevation of skin with no visible fAbnormal formation of the keratinocytes of the epidermisThe nail disease paronychia is an often-tender bacterial oAbsence of melanin pigment in various areas, which is f

Reduced pigmentation of hair in patches.A focal type of palmoplantar keratoderma in whichonly ce

Subcutaneous nodules that are located in the vicinity of j

Inflammation surrounding hair follicles.A type of `eczema` (HP:0000964) that occurs in the lips Petechiae are pinpoint-sized reddish/purple spots, resePiebaldism is characterized by stable and persistent, wel

Uncombable hair.Pili (from Latin pilus, hair) torti (from Latin tortus, twiThe presence of unusually deep creases (ridges/wrinkles)`Hyperkeratosis` (HP:0000962) affecting the sole of the fThe presence of multiple pits (small, pinpoint-large indenTelangiectases (small dilated blood vessels) located on t

Poikiloderma refers to a patch of skin with (1) reticulaCircumscribed depigmentation of the hair of the head orA reduced ability to heal cutaneous wounds.A clonal disorder of keratinization with one or multiple aA type of ichthyosiform erythroderma with postnatal onse

Development of gray hair at a younger than normal age.The presence of an increased degree of wrinkling (irregu

A type of ulcer that is caused when an area of skin is sA type of blistering that affects the skin of the tibial regioA diffuse, non-pitting edema and thickening of the skin u

A degree of wrinkling of the facial skin that is more thaProgressive loss of hair.

Progressively reduced or lacking hair growth.

A soft tissue prominence of the ventral aspects of the fing

Pruritus is an itch or a sensation that makes a person waA skin abnormality characterized by redness and irritation

Purpura (from Latin: purpura, meaning "purple") is the aA small elevation of the skin containing cloudy or purulenAny manifestation of a skin disease associated with the Pyramidal skinfold extending from the base to the top of Increased susceptibility to bacterial infections of the skAn increased susceptibility to cutaneous abscess format

Recurrent loss, or shedding, of the nails of the fingers aInfections of the skin that happen multiple times.

Recurrent infection involving the vulva, vagina, and adj

Loose and sagging skin often associated with loss of skin

Loose and sagging skin of the fingers.An abnormality of the skin that is restricted to a particulIncreased pigmentation of the skin with a netlike (reticula

Longitudinal, linear prominences in the fingernail plate.Longitudinal, linear prominences in the nail plate.Excessive, increased hair growth located in the sacral re

Localized thickening and tightness of the skin of the fingA chronic autoimmune phenomenon characterized by fibrosSeborrheic dermatitis is a form of eczema which is close

A severe degree of photosensitivity of the skin.A plaque representing a connective-tissue nevus. ConnecDecreased length of nail.A subtype of `skin dimples` (HP:0010781) occurring in tHypopigmented hair that appears silver-gray.Presence of a unitary trichilemmoma, a benign tumour orig

Skin dimples are cutaneous indentations that are the resuA discontinuity of the skin exhibiting incomplete loss of

Morphologically similar to a papule, but greater than ei

A plaque is a solid, raised, plateau-like (flat-topped) les

Cutaneous skin tags also known as acrochorda or fibroepiA discontinuity of the skin exhibiting complete loss of tHair whose growth is slower than normal.Nails whose growth is slower than normal.A nail that is diminished in length and width, i.e., undeSubjective impression of increased softness upon palpitat

Reduced number or density of `axillary hair` (FMA:54253Sparseness of the body hair.Reduced number or density of `facial hair`(FMA:54360).Reduced density of `hairs` (FMA:53667).Reduced number or density of `pubic hair`(FMA:54319).A form of telangiectasis characterized by a central elevaA nail plate that has a longitudinal separation and the twSpontaneous development of hematomas (hematoma) or b

The presence of `squamous cell carcinoma` (MPATH:446)Squamous cell carcinoma of the skin is a malignant tumMultiple, localized or widespread, asymptomatic or infla

Streaks of hyperkeratosis along each finger onto the palmThinned, erythematous, depressed bands of atrophic skin. This term refers to an abnormally increased susceptibiliThe presence of subcutaneous `lipoma` (MPATH:417).Slightly elevated lesions on or in the skin with a diametThe presence of fibromata beneath finger or toenails.A thickening of the stratum corneum in the region beneat

A type of melanoma that is flat and irregular in shape an

Telangiectases in sun-exposed and nonexposed skinTelangiectases (small dilated blood vessels) located near

Telangiectasias refer to small dilated blood vessels loca

Presence of small, permanently dilated blood vessels nearReduced or lacking hair growth in the temporal region (i.Increased density of `hairs` (FMA:53667), i.e., and elevaNail that appears thick when viewed on end.Laminar thickening of skin.Nail that appears thin when viewed on end.Nail that appears thin when viewed on end.Reduction in thickness of the skin, generally associated wToenail that appears thin when viewed on end.Excessive, increased hair growth located in the thoracic An abnormality of the development of the toenails.A benign tumour originating from the outer root sheath of t`Developmental dysplasia` (MPATH:64) of the `hair` (FTrichorrhexis nodosa is the formation of nodes along the hFlesh-colored papule in or around the nail bed. Ungual fiRaised, well-circumscribed areas of erythema and edema i

Warts, benign growths on the skin or mucous membranes A wartlike (with multiple small elevated projections) papu

A triangular depigmented region of white hairs located in Hypopigmented hair that appears white.

The presence of multiple xanthomas (xanthomata) in the sYellowish discoloration of the nails.

Yellow subcutaneous tissue covered by thin, scaly skinlarge clumps of pigment irregularly distributed along hair shaft

A circumscribed, fluid-containing, epidermal elevation g

Absent `eyelids` (FMA:75178).

An abnormal morphology (form) of the face or its compoAn anomaly of the nasal base, which can be conceived of

The presence of an `altered number of`(PATO:0002083) oThe presence of an `altered number of`(PATO:0002083)The presence of an `altered number of`(PATO:0002083) An abnormality of the pigmentation of the `mucosa of tAn `abnormal` (PATO:0000460) `shape` (PATO:0000052) oAn `abnormal` (PATO:0000460) `shape` (PATO:0000052)The presence of an abnormal shape of the `palpebral fiAn abnormal size of the palpebral fissures for example unThe presence of an `abnormal` (PATO:0000460) `shape`An abnormality of `canine tooth` (FMA:55636).Any anomaly of a cranial suture, that is one of the six mA developmental defect of tooth color.An abnormality of the `dental enamel` (FMA:55629).An abnormality of `tooth eruption` (MeSH:D014078).

An abnormality of the `morphology` (PATO:0000051) of An abnormality of the structure or composition of the teeAny abnormality of `dentin` (FMA:55628).

An abnormality of one or more of the set of bones that

An abnormality of the `fontanelle` (FMA:75438).An abnormality in the placement of the ocular globe (eyeAn abnormality in the size of the ocular globe (eyeball).An abnormality of `head and neck` (FMA:280881).An abnormality of `morphology` (PATO:0000051) of the `An abnormality of the `lower lip` (FMA:59818).An abnormality of `molar tooth` (FMA:55638 ).An abnormality of `morphology` (PATO:0000051) of `molAn abnormality of the outline, configuration, or contour

An abnormality of the `lingual frenulum` (FMA:59820), thaAbnormality of the `oral mucosa` (FMA:59660).Any abnormality of the parotid glands, which are the saliAn abnormality of `morphology` (PATO:0000051) of `peAn abnormality of `premolar tooth` (FMA:55637).An abnormality of `morphology` (PATO:0000051) of `preAn abnormality of `morphology` (PATO:0000051) of `prAny abnormality of the `primary tooth` (FMA:55655).

An abnormality of the process of ossification of the skull.Any abnormality of the size of the skull.

Any abnormality of the alveolar ridges (on the upper or loAn abnormality of the anterior fontanelle, i.e., the cranialAbnormality of the `calvaria` (FMA:52800), which is the r

An abnormality of the `chin` (FMA:46495), i.e., of the infeAbnormality of the choanae (the posterior nasal apertureAn abnormality of the clivus, which is the inclined bonyAn abnormality of the `columella` (FMA:59725).An abnormality of the `dental pulp` (FMA:55631).An abnormality of the `dental root` (FMA:55624).An abnormality of the `external nose` (FMA:59515).An abnormality of the `eyebrow` (FMA:54237).An abnormality of the `eyelashes` (FMA:53669).An abnormality of the `eyelids` (FMA:75178).An abnormality of the `face` (FMA:24728).Any abnormality of the fontanelles (the regions covered byAny abnormality of the `foramen magnum` (FMA:75306)An anomalyof the `forehead` (FMA:63864).

Any abnormality of the `gingiva` (FMA:59762) (also knoAn abnormality of the `glabella` (FMA:52851).The hairline refers to the outline of `hair of the head`

An abnormality of the `head` (FMA:7154).An abnormality of the `Incisor tooth` (FMA:12823).An abnormality of the `lip` (FMA:59815).Any abnormality of the `mandible` (FMA:52748), the boneAn abnormality of the `mastoid process` (FMA:52872), whAn abnormality of the `Maxilla` (FMA:9711) (upper jaw bThe frontal suture divides the two halves of the frontal bAn anomaly of the midface, which is a region and not an anAbnormality of the midnasal cavity which includes the cAn abnormality of the `mouth` (FMA:49184).An abnormality of the `neck musculature` (FMA:71290).Abnormality of the `nostril` (FMA:59645).An abnormality of the `Ala of nose` (FMA:59519).An abnormality of the `nasal bone` (FMA:52745), compriAbnormality of the nasal bridge, which is the saddle-shapAbnormality of the nasal cavity (the cavity includes and An abnormality of the `nasal dorsum` (FMA:59517), also

An abnormality of the `nasal septum` (FMA:54375).An abnormality of the `nasal skeleton` (FMA:60116).An abnormality of the `nasal tip` (FMA:59518).

An abnormality of the `neck` (FMA:7155).An abnormality of the `nose` (FMA:46472).Abnormality of the `occipital bone` (FMA:52735) of the sk

Abnormality of the `oral cavity` (FMA:20292), i.e., the o

Any abnormality of the `palate` (FMA:54549), i.e., of roo

Any abnormality of the `parietal bone` (FMA:9613) of the An abnormality of the region situated around the orbit of

An abnormality of the `philtrum` (FMA:59819).An abnormality of the fossa cranii posterior (the posterAn abnormality of the `premaxilla` (FMA:76869).Any abnormality of the salivary glands, the exocrine glanAbnormality of the `scalp` (FMA:46494).An abnormality of the `hair of head` (FMA:54241).Abnormality of the `sella turcica` (FMA:54709), a saddl

Abnormality of the paranasal (cranial) sinuses, which arAn abnormality of the `skull` (FMA:46565), the bony framAn abnormality of the base of the skull, which forms the An abnormality of the `soft palate` (FMA:55021).

Any abnormality of the sublingual glands, which are the Any abnormality of the submandibular glands, which are tAn anomaly of the supraorbital portion of the frontal bonAny abnormality of the `teeth` (FMA:12516).Abnormality of the temporal bone of the skull, which is sAn anomaly of the `temporomandibular joint` (FMA:5483Any abnormality of the `tongue` (FMA:54640).Abnormality of the `uvula` (FMA:55022), the conic projectAn abnormality of the `zygomatic arch` (FMA:53120), aAn abnormality of the `zygomatic bone` (FMA:52747).An abnormality of the `upper lip` (FMA:59817).An abnormality of the vermilion border, the sharp demarc

Lack of paramedian peaks and median notch of the upperLack (aplasia) of the `ethmoidal sinus` (FMA:84115).Absence of the `eyebrow` (FMA:54237).Lack of eyelashes.Aplasia of `frontal sinus` (FMA:57417).

Lack of eyelashes on the lower lid.A developmental anomaly in which the `mastoid process` The nostrils (the paired channels of the nose) are not pr

Lack of the cartilage of the `nasal septum` (FMA:54375)Absent ossification of the calvaria (vault of the skull).Aplasia of the `paranasal sinuses` (FMA:76587).Lack of the `uvula` (FMA:55022).Aplasia or hypoplasia of the `paranasal sinuses` (FMA:7A cranial suture that is in addition to canonical membranExtra fold of tissue extending from the alveolar ridge to tAn abnormality of head shape characterized by the presenAn `acute` (PATO:0000389) form of `sinusitis` (HP:0000The presence of a `sebaceous adenoma` (MPATH:230) with`Premature` (PATO:0000694) `tooth eruption` (MeSH:D01A degree of pneumatization that is increased compared An abnormally advanced degree of pneumatization (i.e., `Agenesis` (MPATH:57) of `canine tooth` (FMA:55636).`Agenesis` (MPATH:57) of one or more central incisors, `Agenesis` (MPATH:57) of either `maxillary first perma`Agenesis` (MPATH:57) of `incisor` (FMA:12823).`Agenesis` (MPATH:57) of `lower secondary incisor` (FM`Agenesis` (MPATH:57) of `mandibular premolar` (FMA:`Agenesis` (MPATH:57) of `upper secondary incisor` (FM`Agenesis` (MPATH:57) of one or more maxillary lateral i`Agenesis` (MPATH:57) of `maxillary premolar` (FMA:55`Agenesis` (MPATH:57) of `molar tooth` (FMA:55638).`Agenesis` (MPATH:57) of `lower secondary incisor` (F`Agenesis` (MPATH:57) of `upper secondary incisor` (F`Agenesis` (MPATH:57) of one or more `upper lateral se`Agenesis` (MPATH:57) of `secondary molar tooth` (FM

A congenital defect characterized by the absence of one`Agenesis` (MPATH:57) of `premolar tooth` (FMA:55637`Agenesis` (MPATH:57) of `lower primary incisor` (FMA`Agenesis` (MPATH:57) of `upper central primary inciso`Agenesis` (MPATH:57) of one or more maxillary lateral i`Agenesis` (MPATH:57) of either `mandibular second pAbsence of the tongue owing to a developmental abnorm

A shape created by an acute downward arching of the uppe

Underdevelopment of the alveolar process (also known aA gap (cleft) affecting one of the alveolar ridges.Increased width of the alveolar ridges .A `developmental dysplasia` (MPATH:64) of the `dentalPartial fusion of the upper and lower eyelid margins by siShort or anteriorly attached `lingual frenulum` (FMA:598The congenital `absence` (PATO:0002000) of all teeth.Absence of the globe or eyeball.An inability to perceive odors. This is a general term desc

A type of malocclusion in which there is a gap between thAsymmetry of the anterior part of the skull.Anteriorly-facing nostrils viewed with the head in the FrA congenital defect characterized by absence of the `MaAbsence of the `nasal bone` (FMA:52745).Complete absence of all nasal structures.Absence of the parotid gland.Absence of the `Premaxilla` (FMA:76869), which is the emAbsence or underdevelopment of the eyelid.

Aplasia/Hypoplasia involving bones of the skullUnderdevelopment or absence of the nose or parts thereAbsence or underdevelopment of a cranial sinus or sinuAbsence or underdevelopment of the eyebrow.Absence or underdevelopment of `frontal sinus` (FMA:5Absence or underdevelopment of the mandible.Absence or underdevelopment of the `Maxilla` (FMA:971Absence or underdevelopment of the `nasal bone` (FMAAbsence or underdevelopment of the nasal septum.Absence or underdevelopment of the `premaxilla` (FMA:Absence or underdevelopment of the `tongue` (FMA:546Underdevelopment or absence of the `uvula` (FMA:5502Asymmetry observed in the face of a neonate or infant Lack of symmetry between the left and right `mandible`Asymmetry between the left and right portions of the maxThe presence of an `asymmetric` (PATO:0000616) `mouAsymmetry or size difference between the left and right nA congenital defect in the occipital region of the skull,

Symmetrical vermiform facial atrophy that affects mainly

Basal encephalocele is an encephalocele that occurs alonAbnormal elevation of the floor of the posterior fossa iProjection of the tip of the dens more than 5 mm above a Synostosis affecting the right and the left coronal suture.A splitting of the nasal tip. Visually assessable vertical iVisually assessable vertical indentation, cleft, or depress`Tongue` (FMA:54640) with a median apical indentation o`Uvula` (FMA:55022) separated into two parts most easilyPremature synostosis of both lambdoid sutures.Bilateral absence (atresia) of the posterior nasal apertu

A non-midline cleft of the upper lip on the left and right sCleft lip and cleft palate affecting both sides of the face.Nonmidline cleft palate on the left and right sides.A developmental anomaly characterized by abnormal smaA narrowing of the biparietal diameter (i.e., of the tran

Bilateral temporal scarlike defects, which are said to rInflammation of the eyelids.Blepharochalasis is characterized by recurrent, non-painA fixed reduction in the vertical distance between the upA focal dystonia that affects the muscles of the eyelids

An `abnormality of skull shape` (HP:0002648) characteri

Congenital developmental defect arising from the primitiA branchial cyst is a remnant of embryonic development reA congenital fistula in the neck resulting from incomplete A congenital branchial sinus is a remnant of the embryonic

Increased width of the midpoint of the mandible (mental Increased width of the columella.Regional increase in the width (height) of the eyebrow.Bizygomatic (upper face) and bigonial (lower face) width Width of the forehead or distance between the frontotemBigonial distance (lower facial width) more than 2 SD abRegional increase in the width (height) of the lateral eyeIncrease in width of the `nasal tip` (FMA:59518).Increased side-to-side width of the neck.Distance between the philtral ridges, measured just abov

`Increased width` (PATO:0000600) of the skull.Increased width of the `uvula` (FMA:55022) (subjective fIncreased volume and globular shape of the anteroinferi

Excessive growth of the `calvaria` (FMA:52800).Caries is a multifactorial bacterial infection affecting t

An odontogenic tumor of the `cementum of tooth` (FMA:A congenital defect in the skull, whereby there is a proStagnation of head growth seen as flattening of the heaA chronic epithelioid cell granulomatous inflammation oEnlargement of the zygomatic process of the temporal boneUnderdevelopment of the `zygomatic bone` (FMA:52747). ThInflammation of the lip.A persistent midline depression of the skin over the fat H-shaped crease in the fat pad of the chin.Horizontal crease or fold situated below the vermilion borAbsence or abnormal closure of the choana (the posterioAbnormal narrowing of the choana (the posterior nasal aChronic inflammation of the bronchi.Chronic inflammation of the nasal mucosa.

A chronic form of `sinusitis` (HP:0000246).The presence of a notch in the margin of the `ala nasi`A short discontinuity of the margin of the lower or upper A bony defect in the skull base.

A gap in the lower lip.Midline deficiency of the mandible and some or all overlyIncomplete fusion of the chin, resulting from a developmenCleft palate is a developmental defect of the `palate` (FCleft of the soft palate (also known as the velum, or muA gap in the `upper lip` (FMA:59817). This is a congenita`Trilobar` (PATO:0002241) skull configuration when viewAbsence of fine and sharp appearance of brows, nose, liA depression located at an oral commissure.Nasal ridge curving posteriorly to an imaginary line that

Facial diplegia (that is, bilateral facial palsy) with congenMicrocephaly (HP:0000252) that is present already at the A congenital form of torticollis resulting from shorteningAn abnormal `conical` (PATO:0002021) morphology of thAn abnormal `conical` (PATO:0002021) morphology of thAn abnormal `conical` (PATO:0002021) morphology of eithAn abnormal `conical` (PATO:0002021) morphology of thAn abnormal `conical` (PATO:0002021) form of the `teethNasal ridge curving anteriorly to an imaginary line that Premature closure of the `coronal suture of skull` (FMA:Asymmetry of the bones of the skull.Excessive growth of the `bones of cranium` (FMA:71325), iAsymmetry of the bones of the skull and the face.

A characteristic appearance resulting from defective ossiExcessive growth of the craniofacial bones.Craniosynostosis refers to the premature closure of the

A type of dental misalignment with `crowded` (PATO:00006Cryptophthalmos is a condition of total absence of eyelidAbnormally curly or curved eyelashes.

The presence of convoluted folds and furrows formed fromCyclopia is a congenital abnormality in which there is on

A cystic lymphatic lesion of the `neck` (FMA:7155).Dagger-shaped calcifications in the `dental pulp` (FMA:A congenital brain malformation typically characterized bAbnormal reduction in ossification of the calvaria (roof o

A reduced degree of voluntary and involuntary facial moA reduction in the magnitude or amount of ossification of

Accentuated, prominent philtral ridges giving rise to anAn `eye` (FMA:54448) that is more deeply recessed into t

A delay in closure (ossification) of the anterior fontanelInfants normally have two fontanels at birth, the diamond-`Delayed` (PATO:0000502) `tooth eruption` (MeSH:D0140`Delayed` (PATO:0000502) `tooth eruption` (MeSH:D0140`Delayed` (PATO:0000502) `tooth eruption` (MeSH:D0140An abnormally reduced degree of pneumatization (i.e., fAn abnormality of the incisor characterized by invaginatAn abnormal increase of density of the bones making up Overlapping teeth within an alveolar ridge.The presence of small depressions in the dental enamelDental malocclusion refers to an abnormality of the occlu`Developmental dysplasia` of `dentin` (FMA:55628).`Developmental dysplasia` of `dentin` (FMA:55628) affec`Developmental dysplasia` of `dentin` (FMA:55628) or bPosterior positioning of the `glabella` (FMA:52851), i.e.,Posterior positioning of the nasal root in relation to the ovLack of prominence of the nose resulting from a posterioDecreased distance from the nasal tip to the nasal base.Loss of elasticity of the upper and lower eyelids causingPositioning of the nasal septum to the right or left in coNasal tip positioned to one side of the midline.Increased space between two adjacent teeth in the same

An abnormal indentation of the skin in the region of the nThe presence of `discolored` (PATO:0000331) lateral incDouble rows of eyelashes.An abnormality of the gestures or movements executed wiAn `abnormality of skull shape` (HP:0002648) characterizA characteristic facial appearance with a round facial forThis may present as a partial or complete duplication ofA dental anomaly characterized by the presence of a twoThe palpebral fissure inclination is more than two stand

A morphological `abnormality of the mouth` (HP:0000153)Habitual flow of saliva out of the mouth.

A turning outward of the lip or lips, that is, eversion of theAn outward turning (eversion) or rotation of the eyelid m

This is a description previously used to describe a facia

A neural tube defect characterized by sac-like protrusionIncreased aperture of the `nostril` (FMA:59645).Increased size of the parotid gland.An inward turning (inversion) of the eyelid margin.Redundant eyelid skin pressing the eyelashes against thA fold of skin starting above the medial aspect of the upA fold of skin starting at or just below the medial aspectEpistaxis, or nosebleed, refers to a `hemorrhage` (MPA

Euryblepharon is a congenital eyelid anomaly characteriz

An abnormal configuration of the `lower lip` (FMA:59818) Inner aspect of the upper lip vermilion (normally apposinMore pronounced paramedian peaks and median notch oIncreased depth of the median tongue furrow.

The eyebrows extend towards - or even all the way down A pattern of hair growth in which there is hair exntedingBony defects situated along the cranial suture lines or at

An abnormal difference between the left and right sides o

A congenital malformation with a cleft (gap or opening) iFacial diplegia refers to bilateral facial palsy (bilateral f

Hemangioma, a benign tumor of the vascular endothelial cExcessive growth (overgrowth) of the facial bones, that i

Hemangioma, a benign tumor of the vascular endothelial cFacial myokymia is a fine fibrillary activity of the facial Facial nerve palsy is a dysfunction of cranial nerve VII (tParalysis of the facial nerves on the basis of overgrowtComplete loss of ability to move facial muscles innervated

Sudden, repetitive, nonrhythmic motor movements (spasmLack of `tooth eruption` (MeSH:D014078) of the `secondThe presence during the prenatal period of a cystic massComplete or nearly complete soft tissue fusion of the alv

Absence of concavity or convexity of the face when vieweA forehead with abnormal flatness.An abnormal degree of flatness of the `Ala of nose` (FMA:Reduced convexity of the `occiput` (FMA:49187) (posterioAn abnormally flat sella turcica.Underdevelopment of the `frontal bone` (FMA:52734).Bilateral bulging of the lateral frontal bone prominences w

Excessive amount of hair growth on forehead.

Reduced strength of the frontalis muscle (which is locatIncreased prominence or roundness of soft tissues betIncreased bulk of tissue alongside the nose. The fullnesAccentuation of the grooves on the dorsal surface of theLack of separation of the upper and lower lips.The union of two separately developing tooth germs typicaA congenital defect with an abnormal joining of the gumsThe development of two teeth from a single tooth bud, leA `generalized` (PATO:0001513) form of developmental A generalized form of `microdontia` (HP:0000691).A generalized form of `periodontitis` (HP:0000165).

`Hemorrhage` (MPATH:119) affecting the `gingiva` (FMThe presence of `fibrosis` (MPATH:181) of the `gingiva`Hyperkeratosis` (MPATH:154) of the `gingiva` (FMA:59`Hyperplasia` (MPATH:134) of the `gingiva` (FMA:59762, th`Inflammation` (MPATH:212) of the `gingiva` (FMA:5976Inflammation of the tongue.Posterior displacement of the tongue into the pharynx, iA `grey` (PATO:0000950) `discoloration` (PATO:0000331A green staining of teeth.Noticeably unpleasant odors exhaled in breathing.

Unilateral atrophy of facial tissues, including muscles, bUnilateral overgrowth of facial tissues, including muscleUnilateral underdevelopment of the facial tissues, inclIncreased length and width of one half of the tounge.Distance between the hairline (trichion) and the glabellAn abnormally increased height of the forehead.Insertion of the posterior columella superior to the nasalHeight of the palate more than 2 SD above the mean (objecHair on the neck extends less inferiorly than usual.The presence of a high and narrow palate.Increased height of the central portion of the eyebrow, fAn acute purulent infection of the sebaceous glands of ZHordeola externa are acute purulent infections affectingHordeola interna are acute purulent infections affectinAn eyebrow that extends straight across the brow, witho

Bony overgrowth of the internal (endosteal) surface of tBony overgrowth of the internal (endosteal) surface of t

Interpupillary distance more than 2 SD above the mean (aA form of `hypomineralization of enamel` (HP:0006285) cA developmental anomaly characterized by a `reduced nA form of `hypomineralization of enamel` (HP:0006285) c

A `decreased amount` (PATO:0001997) of `enamel minerDevelopmental hypoplasia of the `dental enamel` (FMA:

Developmental hypoplasia of `teeth` (FMA:12516).Underdevelopment of the `anterior nasal spine of maxillUnderdevelopment of the `lower eyelid` (FMA:54442).Underdevelopment of the `Maxilla` (FMA:9711).Underdevelopment of the `nasal bone` (FMA:52745).Underdevelopment of the pharynx.Developmental hypoplasia of the `primary teeth` (FMA:5Developmental hypoplasia of the tooth germ, i.e., of the s

Underdevelopment of `frontal sinus` (FMA:57417).

Underdevelopment of the nasal septum.

Underdevelopment of the philtrum.A decreased sensitivity to odorants (that is, a decreased Interpupillary distance less than 2 SD above the mean (aA tooth that has not erupted because of local impedimen`Increased size` (PATO:0000586) of the `incisor tooth`A subtle unilateral cleft of the upper lip, which may appeAn increased amount of subcutaneous fat tissue around Abnormal largeness of the eye with an axial length > 2.An increased amount of subcutaneous fat tissue in the fThe presence of a `supernumerary` (PATO:0000470), i.e.An increase in the magnitude or amount of ossification ofSkin crease extending from below the inner canthus lateElevated ridge(s) of skin starting well below the medial Increased pigmentation, either focal or generalized, ofIrregular distribution of the teeth along the dental arch,A deformity of the sella turcica whereby the sella extendsA benign uni- or multicystic, intraosseous tumor of odontoA kind of `craniosynostosis` (HP:0001363) affecting the

Increased size of the ocular globe (eyeball).

In newborns, the two frontal bones, two parietal bones, aAn abnormal increase in the size of the foramen magnu

An enlargement of the `posterior fontanelle` (FMA:75440An abnormal enlargement of the `sella turcica` (FMA:54

An eyebrow that extends laterally beyond the orbital rim Synostosis affecting only the left coronal suture.Premature synostosis of only the left lambdoid suture.

Increased focal pigmentation of the vermilion of the lips.

A depression located on a lip.`Telangiectasia` (MPATH:476) (that is, the presence of smMultiple indentations and/or elevations on the edge and/A `localized` (PATO:0000627) form of developmental hyA `localized` (PATO:0000627) form of `periodontitis` (HIncreased length of the hairs of the eyebrows.Mid upper eyelash length >10 mm or increased length of

Facial height (length) is more than 2 standard deviationsIncreased inferior-superior length of the neck.Distance from nasion to subnasale more than two standarDistance between medial and lateral canthi is more than Distance between nasal base and midline upper lip vermiIncreased length of the upper eyelashes.Increased width of the `upper lip` (FMA:59817).Increased length of the `uvula` (FMA:55022).This term refers to the loss of eyelashes that were previLoss of normal subcutaneous fat tissue in the face.

Distance between the hairline (trichion) and the glabellColumella extending inferior to the level of the nasal baInsertion of the posterior columella below the nasal baseHair on the neck extends more inferiorly than usual.A short discontinuity of the margin of the `lower eyelid`Edema in the region of the `Lower eyelid` (FMA:54442).Depression located on the `vermilion of the lower lip` Occipitofrontal (head) circumference greater than 97th The presence of an abnormally large skull with onset at b

`Increased size` (PATO:0000586) of the `teeth` (FMA:12`Increased size` (PATO:0000586) of the `maxillary centrIncreased length and width of the tongue.Absence of the usual parallel position of philtral ridges.An anomaly of `frontal process of maxilla` (FMA:52894).Underdevelopment of the malar (frontal) process of the maProminence of the malar process of the maxilla and infraorAn abnormality of the`morphology` (PATO:0000051) of Absence of the mandible.

Hyperostosis (bony overgrowth) of the mandible.

Abnormal prominence of the `chin` (FMA:46495) relatedA type of craniofacial dysostosis associated with abnorm

A lack of facial expression often with staring eyes and a

`Decreased size` (PATO:0000587) of the `maxillary perHypoplasia of the maxillozygomatic complex.An abnormal distribution of eyebrow hair growth in the meA type of `cleft lip` (HP:0000204) presenting as a midlinCleft lip or palate affecting the midline region of the palaCleft palate of the midline of the palate.Absence of the normal opening of the choana (the posteri

The presence of a supernumerary tooth in the midline betLinear vertical groove in the midline of the forehead, extThe frontal suture divides the two halves of the frontal bPremature fusion of the metopic suture.Occipito-frontal (head) circumference (OFC) less than -`Decreased size` (PATO:0000587) of the `teeth` (FMA:12`Decreased size` (PATO:0000587) of the `primary teethDecreased length and width of the `tongue` (FMA:54640`Developmental hypoplasia` (MPATH:10060) of the `manA developmental anomaly characterized by abnormal smaA form of `developmental hypoplasia` (MPATH:10060) of

Anterior positioning of the infraorbital and perialar regiPosterior positions and/or vertical shortening of the infr

This term groups together three conditions that presumabl

A congenital malformation with a cleft (gap or opening) inAn abnormal groove on the midline of the nose that may e

Pit in the midline of the philtral groove.Midline skin dimples over anterior/posterior fontanelles

Absence or abnormal closure of the midnasal cavity.Abnormal narrowing (stenosis) of the midnasal cavity, i.`Misaligned` (PATO:0001654) `incisor` (FMA:12823).Abnormal alignment, positioning, or spacing of the teetIncreased size and molar morphology of `premolar toot

Mulberry molars are irregular teeth generally affecting tThe presence of `multiple` (PATO:0002118) `impacted t

Craniosynostosis involving at least 2 cranial sutures, whThe presence of multiple embedded tooth germs which ha

A facial appearance characteristic of myopathic conditioBizygomatic (upper face) and bigonial (lower face) widthWidth of the forehead or distance between the frontotemBigonial distance (lower facial width) more than 2 stand

Distance between the commissures of the `mouth` (FMA:4Slender, slit-like aperture of the `nostril` (FMA:59645).Decreased distance between the attachments of the alae Decreased width of the bony bridge of the nose.Decreased width of the nasal ridge.Abnormally narrow nasal septum.Decrease in width of the nasal tip.Interalar distance more than 2 SD below the mean for ageWidth of the palate more than 2 SD below the mean (objeDistance between the philtral ridges, measured just aboDecreased width of the `uvula` (FMA:55022).`Telangiectasia` (MPATH:476) of the nasal mucosa.Reduced ability to pass air through the nasal cavity oftePolypoidal masses arising mainly from the mucous membr

Erupted tooth or teeth at birth.Weakness of the muscles involved in neck flexion (sterno`Decreased strength` (PATO:0001779) of the `neck mus

A `neoplasm` (MPATH:218) of the `lips` (FMA:59815).Cancer of the nasal cavity.A `neoplasm` (MPATH:218) occurring in the `oral cavityA `neoplasm` (MPATH:218) of the `tongue` (FMA:54640

Nodular changes affecting the eyelids may have many diClefting of the upper lip affecting the lateral portions of

The presence of a V-shaped indentation (notch) in the pr

Obliteration of the pulp chambers owing to mineralizationAbnormally flat (obtuse) angle of the mandible. The anglA type of encephalocele (that is, a a protrusion of part o

Neoplasm involving odontogenic cells, an `odontogenicThe presence of an `odontoma` (MPATH:387).A developmental anomaly characterized by a `reduced nReduced number of primary teeth.Visible space between the dental arches in occlusion.

Presence of teleangiectases in the oral cavity.The presence of a cleft in the oral cavity, the two main tyA white patch on the oral mucosa that cannot be rubbed

Fibrous band between the mucosal surfaces of the upperErosion of the mucous mebrane of the mouth with local ex

Presence of a cyst in the region of the orbita. Orbital cys

A face with a rounded and slightly elongated outline.Maxillary teeth cover the mandibular teeth when biting tPositioning of the nasal tip inferior to the nasal base.An abnormal anteroposterior extension of the maxillary Oxycephaly (from Greek oxus, sharp, and kephalos, head) A fistula which connects the oral cavity and the pharyngeThe presence of small (ca. 0.5-1.0 mm) dilated blood vEdema in the region of the `eyelids` (FMA:75178).

Craniosynostosis of all calvarial sutures.Depression located paramedially on the vermilion of a lipUnderdevelopment of the `paranasal sinuses` (FMA:765Parietal bossing is a marked prominence in the parietal An encephalocele located between bregma and lambda.The presence of symmetrical and circular openings (foramInflammation of the parotid gland.Inability to perceive certain odorants (implies that the sReduced ability to perceive certain odorants (implies tha

Peg-shaped `upper lateral secondary incisor tooth` (FMRadiolucency (reflecting a reduction in the bony substanc`Inflammation` (MPATH:212) of the `periodontium` (FMAIncreased pigmentation, either focal or generalized, of thEdema affecting the region situated around the orbit of tIncrease in periorbital soft tissue.Increased pigmentation of the skin in the region surround

Persistence of the primary teeth beyond the age by whiThe anterior fontanelle generally ossifies by around the Abnormal accumulation of fluid leading to swelling of thNarrow ridge in the midline of the philtral groove.Pierre Robin malformation is a sequence of developmentAsymmetric head shape, which is usually a combination of Hemangioma is a benign tumor of the vascular endotheliaA developmental malformation of the occipital bone and upA marked tapering of the lower face to the chin.

Absence or abnormal closure of the posterior portion of A discrete posterior fossa cerebrospinal fluid (CSF) colle

Asymmetry of the posterior part of the skull.

The postnatal development of an abnormally large skullMicrocephaly (HP:0000252) with onset in the postnatal perA facial appearance characteristic of a fetus or neonateEarly closure (ossification) of the anterior fontanelle, wNormally, the posterior and lateral fontanelles are oblite`Premature` (PATO:0000694) `tooth eruption` (MeSH:D0`Premature` (PATO:0000694) loss of the permanent teetLoss of the primary (also known as deciduous) teeth bef`Premature` (PATO:0000694) loss of teeth not related to

Prominent aspect of the `premaxilla` (FMA:76869).Reduction in size of the `Premaxilla` (FMA:76869), which A fleshy, tube-like structure usually located in the midline

The progressive development of an abnormally large skulProgressive microcephaly is diagnosed when the head cProgressively increasing bone density of the skull base An tongue-like extension of hair towards the cheeks.

Eyelashes that draw the attention of the viewer due to inForward prominence of the entire forehead, due to protru

Forward protrusion of the `glabella` (FMA:52851).Unusual prominence of the median palatal raphe, which is Vertical bony ridge positioned in the midline of the forehAnterior positioning of the nasal root in comparison to th

Exaggerated bulkiness of the crease or fold of skin runniDistance between subnasale and pronasale more than two Increased convexity of the `occiput` (FMA:49187) (posteriIncreased size and/or number of soft tissue folds on the pGreater than average forward and/or lateral protrusion of An eye that is protruding anterior to the plane of the faceTongue extending beyond the alveolar ridges or teeth at Coarse facial features reminiscent of those of a boxer.Multiple punctate calcifications in the `dental pulp` (FMAn abnormality of the appearance of the face caused by Recurrent episodes of ulceration of the oral mucosa.An increased susceptibility to bronchiolitis as manifested An increased susceptibility to bronchitis as manifested byRecurrent partial dislocations of the mandible.An increased susceptibility to pharyngitis as manifested bA `recurrent` (PATO:0000427) form of `sinusitis` (HP:00

Recurrent upper and lower respiratory tract infectionsAn increased susceptibility to upper respiratory tract infecThe presence of a `reduced number` (PATO:0001997) of

A relatively mild degree of macrocephaly in which the h

Restricted neck movement due to contracturesA net-like pattern of increased pigmentation of the oral cA form of `torticollis` (HP:0000473) in which the head iAn abnormality in which the `mandible` (FMA:52748) is Inflammation of the nasal mucosa with nasal congestionAn overlap of the bony plates of the skull in an infant, wiUnicoronal synostosis affecting only the right coronal sutPremature synostosis of only the right lambdoid suture.

The facial appearance is more circular than usual as vie

A kind of `craniosynostosis` (HP:0001363) affecting the A `neoplasm` (MPATH:218) originating in a `salivary gl

Increased bone density of the skull base without signifiAn increased density in the cranial sutures following obliAn abnormality of `morphology` (PATO:0000051) of the `i`Agenesis` (MPATH:57) specifically affecting one of theA `severe` (PATO:0000396) form of `periodontitis` (HP:Reduced depth of the orbits associated with prominent-aA type of dental dysplasia occurring in dentinogenesis

Decreased vertical distance from the vermilion border of tReduced distance from the anterior border of the naris t

`Short` (PATO:0000574) `dental root` (FMA:55624).Decreased length of the eyelashes (subjective).Facial height (length) is more than two standard deviatioDistance between the labial point of the incisive papillaThe presence of an abnormally short `lingual frenulum`

Reduced superior to inferior length of the nasal septum.Diminished length of the `neck` (FMA:7155).Distance from nasion to subnasale more than two standardDistance between the medial and lateral canthi is more tDistance between nasal base and midline upper lip vermi`Decreased width` (PATO:0000599) of the `upper lip` (Decreased length of the uvula.Incisors with a thick marginal ridge surrounding a deep The presence of a single, median maxillary incisor, affeThe presence of only a single `nostril` (FMA:59645).Inflammation of the `paranasal sinuses` (FMA:59679) owing

A localized defect in the bone of the skull resulting fr

Inclination of the anterior surface of the forehead from Scalp hair whose growth is slower than normal.Abnormally decreased size of the `anterior fontanelle`A face that is short (HP:0011219) and narrow (HP:0000An abnormally small and flat configuration of the posterioA fontanelle that is small for age.An abnormal narrowing of the `foramen magnum` (FMA:The presence of a forehead that is abnormally small.An abnormally small sella turcica.

Flat skin surface, with no ridge formation in the centralGlossy appearance of the entire tongue surface.Decreased number of `head hairs` (FMA:54241) per unit aDecreased density/number and/or decreased diameter ofDecreased density/number of eyelashes.Decreased density/number and/or decreased diameter of

Decreased number of `head hairs` (FMA:54241) per unit

Anosmia for one particular odor.

Facial contours, as viewed from the front, show a broaStomatitis is an inflammation of the mucous membranes oHard-palate submucous clefts are characterized by bony A cleft of the lip with overlying mucous membrane.A cleft of the muscular (soft) portion of the palate thaLack or loss of the soft tissues between the zygomata aThe presence of a `supernumerary` (PATO:0000470), i.e., The presence of more than two nostrils.

Meeting of the medial `eyebrows` (FMA:54237) in the miTalon cusp is an accessory cusp located near the cingulum`Increased volume` (PATO:0000595) of `dental pulp` (`Telangiectasia` (MPATH:476) (that is, the presence of smDistance between the inner canthi more than two standarFusion of the mandibular condyle to the base of the skull,Noises from the temporomandibular joint during mandibulProminence of a triangular soft tissue area of the philtruTriangular appearance of the oral aperture with the apex

Increased density/number and/or increased diameter of Increased thickness of the lower lip, leading to a promineIncrease in bulk of the ala nasi.Abnormally increased thickness of the nasal septum.

Height of the vermilion of the upper lip in the midline moIncreased width of the "skin of vermilion border region oThe presence of an abnormally thick calvaria.A thickening of the skin thickness in the posterior aspe

The presence of an abnormally thin calvarium.Height of the vermilion of the medial part of the lower liHeight of the vermilion of the upper lip in the midline moReduced width of the "skin of vermilion border region of

Thinning and bulging of the posterior fossa bones

Wasting of the `tongue` (FMA:54640).Fasciculations or fibrillation affecting the tongue muscle.

`Telangiectasia` (MPATH:476) (that is, the presence of smInvoluntary contractions of the `neck musculature` (FMA bony protrusion present on the midline of the hard palInability to detect any qualitative olfactory sensation.Reduced ability to detect any qualitative olfactory sensatA horizontal cleft of the face, varying from slight wideninFacial contour, as viewed from the front, triangular in sThe presence of a `triangular` (PATO:0001875) form of

Inversion and rubbing of the eyelashes against the globeWedge-shaped, or triangular head, with the apex of the trLimitation in the ability to open the mouth.Absence of globe, optic nerve, chiasm and optic tracts. Tall head relative to width and length.Gentle upward curve of the upper lip vermilion such thatThinned, deficient, or excessively arched `ala nasi` (FMReduced bulkiness of the crease or fold of skin running fFlatness of the supraorbital portion of the frontal bones.The presence of one or more embedded tooth germs whicSynostosis affecting only one of the coronal sutures.Premature synostosis of only one lambdoid suture.A non-midline cleft of the upper lip on one side only.

One-sided weakness of the muscles of facial expressionA developmental anomaly characterized by abnormal smA fixed reduction in the vertical distance between the upA short discontinuity of the margin of the `upper eyelid`Edema in the region of the upper eyelid.Depression located on the vermilion of the upper lip, usThe palpebral fissure inclination is more than two standarOral commissures positioned superior to the midline labiaInability of velopharyngeal sphincter to sufficiently sepaAn abnormal vertical orientation of the clivus (which noVertical soft tissue creases in the midline of the foreheaReduced strength of the `orbicularis oculi` (FMA:46779),

An abnormality of facial morphology characterized by a smWhite color (lack of pigmentation) of the eyebrow.White color (lack of pigmentation) of the eyelashes.

Enlargement of the `anterior fontanelle` (FMA:75439) wAn abnormally increased width of the cranial sutures forDistance between the oral commissures more than 2 SD abIncreased distance between the attachments of the alae Increased breadth of the nasal bridge (and with it, the naIncreased width of the nasal ridge.Interalar distance more than two standard deviations aboThe presence of a coronal suture (the cranial suture thatAn abnormally increased width of the cranial fontanellesThe presence of a sagittal suture (the cranial suture thatIncreased space between the primary teeth. Note this pIncreased spaces (diastemata) between most of the teet

Increased distance between the `maxillary central perma

Frontal hairline with bilateral arcs to a low point in the mThe presence of extra bones within a cranial suture. WorThe presence of xanthomata in the skin of the eyelid.Dryness of the mouth due to salivary gland dysfunction.

A ratio of serum triiodothyronine (T3) to thyroxine (T4) iAn anomaly in the amount or timing of melatonin secretionAn abnormal increase or decrease in the quantity of thrA deviation from the normal size of the `pituitary gland`Any structural anomaly of the `adrenal glands` (FMA:960A functional abnormality of the `adrenal glands` (FMA:9An `abnormal` (PATO:0000460) `concentration` (PATO:00An abnormal `catecholamine` (CHEBI:33567) concentratiAn abnormality of the concentration of `corticosterone` An abnormality of the concentration of `cortisol` (CHEBIAn abnormality of the concentration of a `glucocorticoidAn `abnormal` (PATO:0000460) `concentration` (PATO:0An `abnormal` (PATO:0000460) `concentration` (PATO:00A structural abnormality of the `pineal gland` (FMA:6203A functional abnormality of the `pineal gland` (FMA:6203An abnormality of the `renin-angiotensin system` (FMA:Abnormality of the `adrenal glands` (FMA:9604), i.e., of An abnormality of the `adenohypophysis` (FMA:74627), whiAb abnormality of the `endocrine system` (FMA:9668).Abnormality of the pituitary gland (also known as hypophAn abnormality of the `parathyroid gland` (FMA:13890).A structural abnormality of the `parathyroid gland` (FMAA functional abnormality of the `parathyroid gland` (FMAAn anomaly of the `pineal gland` (FMA:62033),a small enAn anomaly of the `pituitary gland` (FMA:13889).An abnormality of the `neurohypophysis` (FMA:74628), whAn abnormality of the `thyroid gland` (FMA:9603).A structural abnormality of the `thyroid gland` (FMA:9603

An abnormal `functionality` (PATO:0001509) of the `thyAn `abnormal` (PATO:0000460) `concentration` (PATO:0

No secondary sexual characteristics are present at pubeAccessory ectopic thyroid tissue arising from remnants ofGain-of-function thyroid-stimulating hormone receptor (Calcification within the `adrenal glands` (FMA:9604).Absent development of the adrenal gland.Abnormal development of the adrenal gland.Enlargement of the adrenal gland.Developmental hypoplasia of the `adrenal glands` (FMAInsufficient production of steroid hormones (primarily corDevelopmental hypoplasia of the `adrenal medulla` (FM

Adrenocortical adenomas are benign tumors of the adrenA malignant neoplasm of the adrenal cortex that may proThe presence of large polyhedral cells with eosinophilic

A reduced ability to secrete adrenocorticotropic hormoneOverproduction of adrenocorticotropic hormone (ACTH), wAdrenal insufficiency secondary to a defect in ACTH proAdrenal insufficiency secondary to a defect in the ACTH Adrenogenital syndrome is also known as congenital adrenFailure to develop of the pineal gland, defined clinicall

Insufficient amount of androgenic activity.A condition of reduced function of the pituitary gland cAbsence of the pituitary gland resulting from a developmAbsence or underdevelopment of the anterior pituitary Underdevelopment of the anterior pituitary gland.A type of hypoparathyroidism with circulating antiparathyA tumor formed from the endocrine (argentaffin) cells of A form of adrenal insufficiency related to a lack of ACTHA form of diabetes insipidus related to a failure of vasA type of hypothyroidism due to an insufficient stimulati

A type of `adrenal hyperplasia` (HP:0008221) with `congA type of `adrenal hypoplasia` (HP:0000835) with `congAn enlargement of the `thyroid gland` (FMA:9603) with Deficiency of parathyroid hormone with congenital onsetA type of `hypothyroidism` (HP:0000821) with `congenitAdrenal insufficiency secondary to a defect in corticotrAdrenal insufficiency secondary to a defect in the corticA ratio of serum triiodothyronine (T3) to thyroxine (T4) iAn `abnormal` (PATO:0000460) reduction in the `concentA decreased level of `aldosterone` (CHEBI:27584) in thAbnormally reduced concentration of `cortisol` (CHEBI:1An decreased level of renin (PRO:000013883) in the `bAn abnormal reduction in the quantity of three-dimension

A `decreased concentration` (PATO:0001163) of `leptin

Passing the age when puberty normally occurs with no phA form of primary hyperaldosteronism in which the overA state of excessive water intake and hypotonic (dilute) A group of abnormalities characterized by hyperglycemiaA type of diabetic metabolic abnormality with an accumulAn early onset of puberty, in this case early does not refAbnormal anatomical location of the adrenal gland.An abnormal anatomical location of the anterior lobe oAbnormal anatomic location of the anterior pituitary glanAn abnormal anatomical location of the `parathyroid glAn abnormal anatomical location of the posterior lobe of`Mislocalised` (PATO:0000628) `thyroid gland` (FMA:96An abnormal increase in `catecholamine` (CHEBI:33567) An abnormal increased concentration of parathyroid hoAn elevated concentration of follicle-stimulating hormoneAn elevated concentration of luteinizing hormone in the An abnormally increased size of the `pituitary gland` (FA `goiter` (HP:0000853) that is not associated with functAn `abnormality of thyroid physiology (`HP:0002926) char

An `increased concentration` (PATO:0001162) of `insulin`

The presence of an `follicular adenocarcinoma` (MPATH:A form of primary hyperaldosteronism in which the overpAn enlargement of the `thyroid gland` (FMA:9603).A reduced ability to secrete gonadotropins, which are reOverproduction of gonadotropins (FSH, LH) by the anterioAn autoimmune disease where the thyroid is overactive, Insufficient production of growth hormone, which is prodAcromegaly is a condition resulting from overproductionA chronic, autoimmune type of `thyroiditis` (HP:0100646

High urinary gonadotropins (primary hypogonadism)A kind of `thyroid adenoma` (HP:0000854) characterized An abnormally increased activity of the renin-angiotenOverproduction of the mineralocorticoid aldosterone by tOverproduction of the hormone of `cortisol` (CHEBI:17650An `increased concentration` (PATO:0001162) of `insulAn `increased concentration` (PATO:0001162) of `insulExcessive production of parathyroid hormone (PTH) by tHypersecretion of one or more pituitary hormones. This cAn `abnormality of thyroid physiology (`HP:0002926) charaAbnormally reduced levels of `aldosterone` (CHEBI:2758A reduced concentration of `cortisol` (CHEBI:17650) in tA condition caused by a deficiency of parathyroid horDeficiency of thyroid hormone.

Loss-of-function thyroid-stimulating hormone receptor (A ratio of serum triiodothyronine (T3) to thyroxine (T4) iAn `abnormal` (PATO:0000460) increased in the `concenAbnormally increased concentration of `cortisol` (CHEBI:An increased level of renin (PRO:000013883) in the `blAn abnormal elevation in the quantity of three-dimension

An elevated concentration of `3,3',5-triiodo-L-thyronine`A `increased concentration` (PATO:0001162) of `serotonAbnormally increased concentration of `cortisol` (CHEBI:Ketosis-resistant diabetes is a synonym for type II diabetA type of diabetes mellitus related not to lack of insulin

A type of tumor of the pancreatic beta cells that secrete

An aberrant thyroid gland or `Ectopic thyroid` (HP:01000Low gonadotropins (secondary hypogonadism)Low urinary cyclic AMP response to PTH administration

A pituitary prolactin cell adenoma of more than 10 mm dMaternal diabetes can either be a gestational, mostly tyThe term Maturity-onset diabetes of the young (MODY) waThe presence of a `medullary carcinoma` (MPATH:291) oA pituitary prolactin cell adenoma of less than 10 mm diEnlargement of the thyroid gland related to multiple noduThe presence of `multiple` (PATO:0002118) `pancreatic

The presence of a `neoplasm` (MPATH:218) of the `adreThe presence of a `neoplasm` (MPATH:218) of the `adreThe presence of a `neoplasm` (MPATH:218) of the `adrThe presence of a `neoplasm` (MPATH:218) (tumour) in tThe presence of a `neoplasm` (MPATH:218) (tumour) inThe presence of a `neoplasm` (MPATH:218) (tumour) in The presence of a `neoplasm` (MPATH:218) (tumour) in tThe presence of a `neoplasm` (MPATH:218) of the `thyrA form of diabetes insipidus caused by failure of the kiEnlargement of the thyroid gland related to one or more An hormonally inactive adrenocortical adenoma, that isThe presence of an `adenoma` (MPATH:270) of the `pancrA pituitary functional deficit affecting all the anteriorThe presence of a `papillary adenocarcinoma` (MPATH:29

Paradoxical increased cortisol secretion on dexamethasone suppression testA benign tumor of the parathyroid gland that can cause `Aplasia` (MPATH:58) of the `parathyroid gland` (FMA:1A malignancy of the parathyroid glands. Parathyroid carAbnormal embryonic development of the `parathyroid gl`Hyperplasia` (MPATH:134) of the `parathyroid gland` Developmental hypoplasia of the `parathyroid gland` (F

Pigmented micronodular adrenocortical diseaseA glial uniloculated or multiloculated fluid-filled sac thatAccumulation of calcium salts in the `pineal gland` (FMA solid, low grade, spindle cell, glial neoplasm of adult

A benign epithelial tumor derived from intrinsic cells ofA pituitary tumor with subarachnoid, brain, or systemic A type of pituitary adenoma that produces adrenocorticA type of reduced stature with normal proportions related A type of pituitary adenoma that produces gonadotropinsA type of pituitary adenoma that produces grwoth hormoA type of `hypothyroidism` (HP:0000821) that results frA type of pituitary adenoma that is of unknown cellular A type of pituitary adenoma originating in prolactin secA condition in which the pituitary gland is partially resiA spindled-to-epithelioid, oncocytic, nonendocrine neoplaA type of pituitary adenoma that produces thyroid stimuAbsence of the `neurohypophysis` (FMA:74628) owing toAbnormal development of the `neurohypophysis` (FMA:7Underdevelopment of the `neurohypophysis` (FMA:7462The onset of secondary sexual characteristics before a noThe onset of puberty before the age of 8 years in girls.The onset of puberty before the age of 9 years in boys.Onset of adrenarche at an earlier age than usual.The onset of growth of pubic hair at an earlier age than Premature development of the breasts.Insufficient production of steroid hormones (primarily cor

A form of hyperaldosteronism caused by a defect within Hypercortisolemia associated with a primary defect of theA type of hyperparathyroidism caused by a primary abnorA type of `hypothyroidism` (HP:0000821) that results froA reduced ability to secrete prolactin, a protein hormonThe presence of abnormally increased levels of prolactinA state of renal tubular unresponsiveness or resistance tA condition characterized by resistance to the action of

A form of hyperaldosteronism caused by abnormally incrHypercortisolemia associated with a overproduction of ACSecondary hyperparathyroidism refers to the production An hormonally active adrenocortical adenoma, that is,

An abnormally decreased size of the `pituitary gland` (A type of hyperparathyroidism that occurs following kidnAn `abnormality of the thyroid gland` (HP:0000820) owingAn abnormal growth of parafollicular (C-cells) cells.The presence of a `adenoma` (MPATH:270) of the `thyroThe congenital absence of the `thyroid gland` (FMA:960

The presence of a `carcinoma` (MPATH:549) of the `thy

Thyroid defect in oxidation and organification of iodide

Absence of a lobe of the thyroid gland related to a failThyroid hormone resistance because of a defect in the t`Hyperplasia` (MPATH:134) of the `thyroid gland` (FMA:Developmental hypoplasia of the `thyroid gland` (FMA:9The presence of `lymphangiectasis` (MPATH:98) of the `

Overproduction of thyroid-stimulating hormone (TSH) by Thyroid-stimulating hormone receptor (TSHR) defect

`Inflammation` (MPATH:212) of the `thyroid gland` (FMA

A chronic condition in which the pancreas produces littleA type of diabetes mellitus initially characterized by iEnlargement of the thyroid gland related to a singular no

A deviation from the normal contents of the platelet alpAn anomalous location and arrangement of platelet alphDefective structure, size or content of alpha granules, plaAn abnormal susceptibility to bleeding, often referred toDelay in cutaneous immune reaction to specific antigens A deviation from the normal contents of the platelet alDefective structure, size or content of dense granules, An anomaly of the intracellular membrane complexes knAnomaly in the level or the function of hemoglobin, the oAn abnormal deviation from normal levels of immunoglobuNumber of leukocytes per volume of blood beyond normalAn anomaly in the number of `monocytes` (CL:0000576), wA functional anomaly of the `natural killer cell` (CL:0000A deviation from the normal range of neutrophil cell countA deviation from the normal count of alpha granules perA deviation from the normal count of dense granules peA deviation from the normal count of erythroid precursor

Abnormal number of platelets per volume of blood. In a hAny anomaly in the function of thrombocytes.An anomaly of alpha or dense granules or platelet lysoPresence of reduced amount of a membrane protein on theAn anomaly in platelet form, ultrastructure, or intracellul

A deviation from the normal discoid platelet shape.Anomalous size of platelets. Most normal sized plateletsAn anomaly of the invaginations of the surface membraneVenous or arterial thrombosis (formation of blood clots) Abnormal bleeding of the umbilical stump following separaAn abnormality of the `hematopoietic system` (FMA:966Decreased quantity or activity of `von Willebrand factorA deviation from the normal count of `B cells` (CL:00002An abnormality of the physiological functioning of `B celAn abnormality of `B cells` (CL:0000236).A deviation from the normal count of `T cells` (CL:00000A deviation from the normal count of `T cells` (CL:00000An abnormality of `T cells` (CL:0000084).A `basophils` (CL:0000767) abnormality.An anomaly of the form or number of cells in the `bone

An anomaly of `erythroid lineage cells` (CL:0000764), thatAn anomaly of cells involved in the formation of a granulAn anomaly of cells that originate from the `lymphoid linAnomaly of `megakaryocytes` (CL:0000556).

Abnormality of cells of the monocyte/macrophage lineageAn abnormality of the level of activity of circulating fibriAn abnormality of the process of `blood coagulation` (GO:0An `eosinophil` (CL:0000771) abnormality.An abnormality of `erythrocytes` (CL:0000232) (red-bloodAn abnormality of `granulocytes` (CL:0000094).An abnormality of `leukocytes` (CL:0000738).An abnormality of `lymphocytes` (CL:0000542).An abnormality of `macrophages` (CL:0000235).An abnormality of `mast cells` (CL:0000097).

Abnormality of multiple cell lineages in the bone marrowAn abnormality of `myeloid leukocytes` (CL:0000766).An anomaly of the `natural killer cell` (CL:0000623), whiAn abnormal form or size of neutrophils.A functional abnormality of neutrophils.A `neutrophil` (CL:0000775) abnormality.An abnormality of `phagocytes` (CL:0000518).An anomaly of clotting factor II, which is known as proA `reticulocyte` (CL:0000558) abnormality.An abnormality of the coagulation cascade, which is compAn abnormality of `blood coagulation, common pathwayAn abnormality of the `extrinsic pathway` (GO:0007598) An abnormality of the `intrinsic pathway` (GO:0007597) An abnormality of `platelets` (CL:0000233).

Absence of the Lutheran antigen (a type I integral membrA lack of platelet alpha granules.

Absence of bactericidal oxidative 'respiratory burst' in phagocytes

Absent microvilli on the surface of peripheral blood lymphocytes

Lack of specific granules in neutrophils.

Acanthocytosis is a type of `poikilocytosis` (HP:0004447An acute form of `disseminated intravascular coagulat

A form of acute leukemia characterized by excess lympo

A form of leukemia characterized by overproduction of anA pediatric acute myeloid leukemia involving both myeloiA type of acute myeloid leukemia in which abnormal prAbsence or extremely low level of generally all classes Marked decrease in the number of `granulocytes` (CL:0Thrombocytopenia related to lack of or severe reductionA type of T-cell lymphoma that is characterized by so-caA reduction in `erythrocytes` (CL:0000232) volume or hA type of anemia related to a reduction in the average lifA kind of `anemia` (HP:0001903) characterized by inadeAbnormally increased variability in the size of erythrocytA type of `poikilocytosis` (HP:0004447) characterized byAplastic anemia is defined as pancytopenia with a hypocThe formation of a blood clot inside an artery.

An autoimmune form of `hemolytic anemia` (HP:0001878Autoimmune-induced `neutropenia` (HP:0001875).The presence of thrombocytopenia in combination with detAn abnormal decrease from the normal count of `B cellsA type of lymphoma that originates in B-cells.Myelodysplasia with dysplastic changes in two of the myeA type of actue leukemia with features characteristic ofBleeding sufficiently severe as to require red cell transSignificant bleeding or hemorrhage without significant preAn abnormality of an erythrocyte cell surface molecule.A reduced number of hematopoietic cells present in theThe presence of foam cells in the bone marrow, generalFormation of a blood clot (thrombus) inside a cerebral veA chronic form of `disseminated intravascular coagulatioAn chronic form of `hemolytic anemia` (HP:0001878).

A chronic lymphocytic/lymphatic/lymphoblastic leukemia A myeloproliferative disorder characterized by increased prA myelodysplastic-myeloproliferative disease characteri

Congenital onset of a marked decrease in the number ofA form of `hemolytic anemia` (HP:0001878) with congeniA type of `hypoplastic anemia` (HP:0001908) with congenA form of `neutropenia` (HP:0001875) with congenital onThrombocytopenia with congenital onset.A type of `hemolytic anemia` (HP:0001878) in which the A type of T-cell lymphoma that exhibits malignant infiltrat

Inability to react to a delayed hypersensitivity skin test.

Average platelet volume below the lower limit of the normA decreased count of circulating `CD4-positive helper T A decreased count of circulating `CD8-positive, alpha-beDecreased cell membrane concentration of P2Y12 recepDecreased cell membrane concentration of glycoprotein IDecreased cell membrane concentration of the glycoprotDecreased cell membrane concentration of glycoprotein Formation of a blot clot in a deep vein. The clot often b

A defect in `apoptosis` (GO:0006915) in `lymphocytes` Disseminated intravascular coagulation is characterized bA type of agranulocytosis related to ingestion of a specifA form of `hemolytic anemia` (HP:0001878) that is triggeQualitatively abnormal fibrinogen.Selective deficiency of one or more, but not all, classes

Increased activity of coagulation factor V, Factor V, whiThe presence of elliptical, cigar-shaped erythrocytes onIncreased count of `eosinophils` (CL:0000771) in the `bA form of `hemolytic anemia` (HP:0001878) that occurs Larger than normal size of erythrocytes.Increased count of erythroid precursor cells, that is, `Decreased count of erythroid precursor cells, that is, `

A form of `hemolytic anemia` (HP:0001878) that can be tThe process of hematopoiesis occurring outside of the bReduced ability to transform factor X into its activated fA kind of `hemolytic anemia` (HP:0001878) that is induceA type of megaloblastic anemia (i.e., anemia characterizeA type of megaloblastic anemia that does not improve upoGiant platelets are larger than 7 micrometers and usually

Decreased number of granulocyte precursors in the bonAn abnormally reduced number of `granulocytes` (CL:00Formation of multiple granulomas, i.e., localized nodularAnemia characterized by abnormal intracellular inclusi

Normal adult hemoglobin is composed of two chains each oHemoglobin H (HbH) contains four beta-globin chains. It A type of anemia caused by premature destruction of redPhagocytosis by macrophages of erythrocytes, leukocytesLow platelet count following administration of unfractioAn excessive number of histiocytes (tissue macrophagesA typer of lymphoma characterized microscopically by mA type of anemia cahracterized by abnormally large eryAn abnormality of coagulation associated with an increas

Increased concentration of fibrinogen in the blood.An increased level of gamma globulin (immunoglobulin) iAn excessive division of the lobes of the nucleus of a `nA type of anemia characterized by an abnormally low conA type of anemia characterized by an abnormally low conDecreased concentration of fibrinogen in the blood.An abnormally decreased level of immunoglobulin in bloAnemia with varying degrees of erythrocytic hypoplasia Hyposegmented (hypolobulated) or bilobed neutrophil nuDecreased levels of immunoglobulin IgA.An abnormally decreased level of immunoglobulin IgE inAn abnormally decreased level of immunoglobulin IgG inAn abnormally decreased level of immunoglobulin IgM inNormal hemoglobin synthesis is characterized by productiA reduction in immunoglobulin levels of the IgG2 subclaAbnormal platelet response to ADP as manifested by reduAn impairment of the class-switch recombination process

Abnormal response to arachidonic acid as manifested by Abnormal response to collagen or collagen-mimetics as Abnormal response to epinephrine as manifested by reducNormal peripheral blood lymphocytes, when stimulated byImpaired production of memory cells, the B-cells that peA reduction in the ability of neutrophils to kill bacteria.

An abnormality of adhesion of thrombocytes. Normally, plAn abnormality in the rate and degree to which plateletsAbnormal response to ristocetin as manifested by reduced Abnormal response to thrombin or thrombin mimetics as mAbnormal response to thromboxane as manifested by reduAn abnormal increase from the normal count of `B cells

An abnormally increased level of immunoglobulin A in blAn abnormally increased level of immunoglobulin E in blAn abnormally increased level of immunoglobulin G in bAn abnormally increased level of immunoglobulin M in b

An increase in the volume of packed erythrocytes in a b

An abnormal increase in the binding affinity of hemoglobAverage platelet volume above the upper limit of the norIncreased `megakaryocyte` (CL:0000556) number, i.e., ofPresence of an elevanted number of projections from nucl

Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors

Increased proportion of HLA DR+ and CD57+ T cellsThe presence of an increased mass of red blood cells in t

Reduced platelet count that occurs sporadically, i.e., it

Juvenile myelomonocytic leukemia (JMML) is a lethal myelA cancer of the blood and bone marrow characterized by An abnormal increase in the number of `leukocytes` (CLAn abnormal decreased number of `leukocytes` (CL:0000Increase in the number or proportion of lymphocytes in tLeukemia associated with hyperplasia of the lymphoid tA cancer originating in lymphocytes and presenting as a A reduced number of `lymphocytes` (CL:0000542) in the

A type of anemia characterized by increased size of e

The presence of an increased number of `mast cells` (CA `reduced count` (PATO:0002001) of `megakaryocytesAnemia characterized by the presence of erythroblasts tAbnormal increased number of megaloblasts in the bon

Abnormally increased levels of Methemoglobinemia in the b

A kind of anemia in which the volume of the red blood ceThe presence of erythrocytes that are sphere-shaped anAn decreased number of circulating `monocytes` (CL:00An increased number of circulating `monocytes` (CL:00Myelodysplasia with dysplastic changes in two or more ofA malignant plasma cell tumor growing within soft tissue Clonal hematopoietic stem cell disorders characterized bReplacement of bone marrow by fibrous tissue.A leukemia that originates from a `myeloid cell` (CL:000Proliferation (excess production) of hemopoietically actiIn the NBT test, neutrophils change the colorless compounLow platelet count associated with maternal platelet-specAn abnormally low number of `neutrophils` (CL:0000775)The presence of intraceullar inclusion bodies (aggregatesIncreased number of neutrophils circulating in blood.A typer of lymphoma characterized microscopically by tThe presence of multiple epithelioid cell granulomas con

A type of anemia characterized by an normal concentratiA kind of anemia in which the volume of the red blood celA type of `hypoplastic anemia` (HP:0001908) in which thAn abnormal reduction in numbers of all blood cell types (

Detectable but decreased IgA levels that are more than

Hemoglobin F (HbF) contains two globin alpha chains and

A discrete mass of neoplastic monoclonal plasma cells eiThe presence of abnormally shaped `erythrocytes` (CL:

Polycythemia is diagnosed if the red blood cell count, thSignificant maternal haemorrhage/blood loss following deiSudden onset of thrombocytopenia (reduced platelet count

Prolonged bleeding post dental extraction sufficient to reBleeding that persists longer than the normal time followProlonged or protracted bleeding following an invasive pProlongation of the time taken for a standardized skin cuIncreased time to coagulation in the partial thromboplaIncreased time to coagulation in the prothrombin time tesAn abnormal prolongation (delay) in the time required by A type of anemia resuting from suppression of erythropoieA type of `sideroblastic anemia` (HP:0001924) that is allA type of megaloblastic anemia that improves upon adminiA form of severe hemolytic anemia characterized by erythRepeated episodes of the formation of a blot clot in a deRepeated episodes of obstruction of blood flow due to an eRepeated episodes of inflammation of a vein associated wA form of `poikilocytosis` (HP:0004447) in which the abnoA reduction in the ratio of production of alpha globin to An `abnormality of coagulation` (HP:0001928) related tA reduction in the ratio of production of beta globin to tReduced numbers of `helper T cells` (CL:0000912).Decreased ability to react to a delayed hypersensitivity sDecreased activity of `coagulation factor IX` (PR:00000730Decreased activity of coagulation factor V, Factor V, whReduced activity of `coagulation factor VII` (PR:000007301 Reduced activity of `coagulation factor VIII` (PR:000007302Reduced activity of `coagulation factor X` (PR:000007294)Decreased activity of `coagulation factor XI` (PR:000007Decreased activity of `coagulation factor XII` (PR:0000072Decreased activity of coagulation factor XIII (also known asHemoglobin A (HbA) contains two globin alpha chains andReduction in the amount of kininogen, which functions asA reduction in the expression of CD43 on the cell surfaReduced ability of the `natural killer cell` (CL:0000623)An `abnormality of coagulation` (HP:0001928) related tAn `abnormality of coagulation` (HP:0001928) related toDecreased activity of coagulation factor II, which is alsThe prothrombin consumption test measures the formation oDecreased quantity of `von Willebrand factor` (PR:0000Decreased activity of `von Willebrand factor` (PR:000017An abnormal reduction of the cell motility of `neutrophil

A type of myelodysplastic syndrome characterized by lessA type of `sideroblastic anemia` (HP:0001924) that is noPoor anticoagulant response to activated protein C. A plaA reduced number of `reticulocytes` (CL:0000558) in theAn elevation in the number of `reticulocytes` (CL:0000558The presence of an abnormal number of fragmented red blAn abnormality of `macrophages` (CL:0000235), also knowDeficiency of secretory IgA (polymers of 2-4 IgA monomeA `severe` (PATO:0000396) form of `B lymphocytopenia` A `severe` (PATO:0000396) form of `T lymphocytopenia` (Sideroblastic anemia results from a defect in the incorpoAbnormality/dysplasia of a single myeloid cell (erythroidThe presence of normal overall immunoglobulin levels witThe presence of normal overall immunoglobulin levels witThe presence of normal overall immunoglobulin levels wiThe presence of erythrocytes that are sphere-shaped.

The presence of erythrocytes with a mouth-shaped (stomaInflammation of a superficial vein associated with venousAn abnormally low count of `T cells` (CL:0000084).

T-cell chronic lymphocytic lymphoma/leukemiaA type of lymphoma that originates in T-cells.A type of T-cell lymphoma in which cancerous T-cells maA type of megaloblastic anemia (i.e., anemia characterizA reduction in the number of circulating `thrombocytes`Increased numbers of platelets in the peripheral blood.A cerebrovascular accident (stroke) that occurs becausThe formation of a blood clot inside a blood vessel that Inflammation of a vein associated with venous thrombosisUndetectable serum immunoglobulin A level at a value <A transient reduction in the number of `erythroblasts` (CAt birth, newborns are endowed with maternal antibodie

The presence of clear, sharply defined vacuoles in the Formation of a blood clot (thrombus) inside a vein, causiA malignant monoclonal gammopathy characterized by a

Abnormal arrangement of the structures of the axoneme, whAn abnormality of the partial pressure of oxygen or carbonA structural anomaly of the two central microtubules of mAny anomaly of the normal motility of motile cilia. EvaluDefects in the formation of pulmonary lobules.An anomaly of the rhythm or depth of breathing.An abnormality of the `pulmonary lymphatic chain` (FMAAny structural anomaly of the pseudostratified ciliated epAbnormal arrangement of the structures of the axoneme, whAny functional anomaly of the respiratory motile cilia.

A structural anomaly of the respiratoy system.An abnormality of the pulmonary situs, i.e., of the sidednAn abnormality of the `aryepiglottic fold` (FMA:55448).An abnormality of the `set of bronchi`(FMA:70774).An abnormality of the `epiglottis` (FMA:55130).An abnormality of the `larynx` (FMA:55097).An abnormality of the `lung` (FMA:7195).An abnormality of the `pulmonary pleura` (FMA:9734), thAn abnormality of the `respiratory system` (FMA:7158), wAn anomaly of the `trachea` (FMA:7394).

An abnormality of the `upper respiratory tract` (FMA:456An abnormality of the `vocal cord` (FMA:55457).Absence of the two central microtubules of motile cilia wAbsence of the radial spokes of the axoneme.Complete absence of the dynein arms of respiratory motileAbsence of the outer dynein arms of respiratory motile cilAbsence of the outer dynein arms of respiratory motile cil

An acute episode of pneumonia due to the aspiration (breatInflammation of the large airways of the lung with rapidAcute inflammation of the lung due to an infection.An acute infection of the upper or lower respiratory tract.Adenocarcinoma of the Bronchus.Abnormal accumulation of surfactant-like, periodic acid-s

Abnormal shortening of the `larynx` (FMA:55097) in the anAbsence of the `epiglottis` (FMA:55130).This term applies if the Epiglottis is absent or hypoplasti

Lack of breathing with no movement of the respiratory muRecurrent episodes of apnea occurring during infancy.Recurrent episodes of apnea that are precipitated by factoInspiration of a foreign object into the airway.Pneumonia due to the aspiration (breathing in) of food, liqA type of asthma in which aspirin and other nonsteroidaAsthma is characterized by increased responsiveness of tCollapse of part of a lung associated with absence of inflaA midline anterior-posterior cleft of the `epiglottis` (FMAA loss of the ability to move the `vocal fold` (FMA:55457Bilateral lack of development of the lungs.Both lungs have three lobes. Normally, the left lung has `Decreased strength` (PATO:0001779) of the `vocal foldBowing (abnormal curvature) of the `vocal folds` (FMA:5

Persistent abnormal dilatation of the bronchi owing to loInflammation of the `bronchioles` (FMA:76497).Inflammation and fibrosis of the bronchioles leading to p

Bronchiolitis obliterans organizing pneumonia (BOOP) is anInflammation of the large airways in the lung including an

A rare congenital cystic lesion of the lungs in the media

Marked widening of the major bronchi that may be predispThe presence of microscopic cystic masses of nonfunctio

Ossification affecting the `set of cartilages of larynx` (

Apnea resulting from depression of the respiratory centers

An abnormal pattern of respiration characterized by cyclAccording to the definitions of the American and British

Accumulation of excessive amounts of lymphatic fluid (chyA deviation from the normally well coordinated pattern of iCongenital cystic adenomatoid malformation (CCAM) can b

A sudden, audible expulsion of air from the lungs through

Reduced tendency to respond to a reduced concentration

An anomaly of the dynein arms of motile cilia. This featuDifficult or labored breathing.

Episodes of very rapid breathing.Intermittent episodes of increased resistance to the passAsthma attacks following exercise.

A kind of `bronchopulmonary sequestration` that is compA type of pulmonary sequestration that is completely encA type of pleural effusion with a exudate (extravascular f

Coughing up (expectoration) of blood or blood-streaked sThe presence of blood in the pleural space.Abnormally elevated blood carbon dioxide (CO2) level.An abnormally high level of blood oxygen.

Hyperventilation refers to an increased pulmonary ventilAbnormally reduced blood carbon dioxide (CO2) level.Hypoplasia of the `epiglottis` (FMA:55130).A reduction in the amount of air transported into the pul

An abnormally low level of blood oxygen.

Inspiratory stridor is a high pitched sound upon inspiratioLack of strength of the intercostal muscles, i.e., of the

Intermittent episodes of respiratory insufficiency due to muscle weakness

Abnormality of the lung parenchyma extending to the pulmA kind of `bronchopulmonary sequestration` that is incorA type of pulmonary sequestration that occurs within theUneven rhythm of breathing.Congenital absence of the lumen of the larynx.A carcinoma of the larynx.A malformation of the `laryngeal cartilage` (FMA:55108).Presence of a gap in the posterior laryngotracheal wall Presence of a cyst (sac-like structure) located in the laryAn abnormal accumulation of fluid and swelling in the tiUnderdevelopment of the larynx (FMA:55097).Blockage of the upper airway at the level of the larynx oStricture or narrowing of the larynx that may be associaAn abnormal high-pitched noisy sound, occurring during iA membrane-like structure that extends across the laryngLaryngomalacia is a congenital abnormality of the larynge

The presence of a lung fibroma, a benign neoplasm that

Respiratory failure in the newborn.

Respiratory difficulty as newborn.

Tumor of the lung.

Obstruction of conducting airways of the lung.A sensation of breathlessness in the recumbent position, A sudden attack of dyspnea that occurs while the affectedThe presence of an excessive amount of fluid in the `pleAccumulation of pus in the `pleural cavity` (FMA:9740).

A `Malignant mesothelioma` (HP:0100001) originating froInflammation of the pleura.A rare cancer originating in the lung or pleural cavity Inflammation of any part of the lung parenchyma.

Accumulation of air in the pleural cavity leading to a part

Replacement of normal lung tissues are progressively re

Abnormal dilatation of the pulmonary lymphatic vessels. Lung parenchymal involvement with lymphoma.The presence of a piece lung tissue which is not attacheAn abnormality of the pulmonary situs, i.e., of the sidednAn abnormality of the pulmonary situs, i.e., of the sidedAn abnormality of the pulmonary situs, i.e., of the sidedMirror image arrangement of the mainstem bronchi with th

Increased susceptibility to aspiration pneumonia, defineAn increased susceptibility to bronchopulmonary infectio

An increased susceptibility to lower respiratory tract infeAn increased susceptibility to pneumonia as manifested An increased susceptibility to respiratory infections as mAn increased susceptibility to infections involving both Increased susceptibility to streptococcus pneumoniae inA decrease in the maximum amount of pressure of expired A decrease in the maximum amount of negative pressureAn abnormal reduction on the vital capacity, which is defi

A severe form of respiratory insufficiency characterizedRespiratory failure requiring assisted ventilation

Failure to adequately provide oxygen to cells of the boRespiratory insufficiency due to defective ciliary clearanceRespiratory insufficiency due to muscle weakness

Inability to move the muscles of respiration.An infection of the upper or lower respiratory tract.

Pneumothorax occurring neonatally without traumatic injuPneumothorax occurring without traumatic injury to the cSevere asthma unresponsive to repeated courses of beta-Stridor is a high pitched sound resulting from turbulent a

Recurrent bouts of sudden, severe apnea that may be lifVery rapid breathing.A congenital absence or considerable underdevelopment of

Marked widening of the trachea and major bronchi that maWeakness of the cartilage in the trachea and the bronchi,

Marked widening of the trachea.

A type of pleural effusion with a transudate (extravascula

A loss of the ability to move the `vocal fold` (FMA:55457`Decreased strength` (PATO:0001779) of the `vocal folIncreased resistance to the passage of air in the upper a

A loss of the ability to move the `vocal folds` (FMA:5545Vocal cord paralysis (caused by tumor impingement)

`Decreased strength` (PATO:0001779) of the `vocal folReduced function of the muscles required to generate subaEpisodic hyperventilation.

Any deviation from the normal motor coordination of the eyAbnormal distribution of retinal arterioles and venules

Any abnormality of the electrical responses of various ceA structural anomaly of the `eye` (FMA:54448).A functional anomaly of the `eye` (FMA:54448).Anomaly of the visual evoked potentials elicited by a flasAn anomaly in the amount of force per unit area exerted bAnomalous movements of the eyes that occur without thAbnormal pigmentation of the `iris` (FMA:58235).

Abnormal migration of corneal endothelium.A functional abnormality of the `pupil` (FMA:58252).An abnormality of the reflex that controls the diameter of t

An abnormality of the combined rod-and-code response Inability to make fine depth discriminations from parallaxAbnormality of Descemet's membrane, which is the basAn abnormality of binocular vision, that is of the abilityAn anomaly in the ability to discriminate between or recoAbnormality of the `corneal endothelium` (FMA:63882), thaAbnormality of the `corneal epithelium` (FMA:58263), that Any abnormality of the size or morphology of the corneaAn abnormality of the `stroma of cornea` (FMA:58306), aAn abnormal anteroposterior thickness of the cornea.An abnormality in voluntary or involuntary eye movementsAn abnormal shape of the `lens` (FMA:58241).Abnormality of macular or foveal pigmentation.An abnormality involving the movement of the eye outwaAn `abnormality of eye movement` (HP:0000496) charac

Abnormality of pattern reversal visual evoked potentialsAn abnormality in the process of focusing of light by the

An `abnormality of eye movement` (HP:0000496) charactAbnormality of the `anterior chamber` (FMA:58078), which An abnormality of the `anterior segment` (FMA:58865) ofAn abnormality of the `choroid` (FMA:58298).A structural anomaly of the ciliary body (FMA:58295).An abnormality of the `conjunctiva` (FMA:59011).Any abnormality of the `cornea` (FMA:58238), which is the

An abnormality of an `extraocular muscle` (FMA:49033).Any abnormality of the `eye` (FMA:54448), including locaAn abnormality of the `fovea centralis` (FMA:58658), the

An anomaly of the `eyeball` (FMA:12513).An abnormality of the `iris` (FMA:58235), which is the pAn abnormality of the ` lacrimal duct` (FMA:61063), a ductAbnormality of the `lacrimal gland` (FMA:59101), i.e., oAn abnormality of the `lacrimal punctum` (FMA:59365), anAn abnormality of the `lens` (FMA:58241).An abnormality of the `line of Schwalbe` (FMA:58422).An abnormality of the `macula lutea` (FMA:58637) is an An abnormality of the nasolacrimal drainage system, whicA morphological abnormality of the optic disc, i.e., of theAbnormality of the `optic nerve` (FMA:50863).

Abnormality of the posterior segment of the eyeAn abnormality of the `pupil` (FMA:58252).An abnormality of the `retina` (FMA:58301).An abnormality of the `retinal pigment epithelium` (FMA:An arterial or venous retinal vascular anomaly.An abnormality of the `sclera` (FMA:58269).An anomaly of the `suspensory ligament of lens` (FMA:588An anomaly of the trabecular meshwork, which is the porAn abnormality of the `uvea` (FMA:58103), the vascular lAny abnormality of the blood vessels of the conjunctiva.

An anomaly of the `vitreous body` (FMA:58827).Abnormality of eyesight (visual perception).An anomaly of visually evoked potentials (VEP), which are

Lack of any response to stimulation upon electroretinog

Congenital absence of the `extraocular muscles` (FMA:No identifiable superior and/or inferior lacrimal punctum.

Absence of the combined rod-and-code response on eleA complete lack of the ability to track objects with the Areas of the retina lacking pigmentation.

A kind of nuclear cataract characterized by fiberglasslike Inability to see well at night or in poor light with onset inA type of cataract (opacification of the lens) that forms A type of age-related cataract that primarily affects the cAge-related macular degeneration (AMD) is a medical condiA type of age-related cataract that primarily affects the nA type of age-related cataract consisting of granular opacAbsence of tear secretion.Allergic Conjunctivitis is an allergic inflammation of the

A transient visual disturbance that is typically caused by Reduced visual acuity that is uncorrectable by lenses in

Bilateral, narrow, irregular lines inferior to the retina anCongenital absence of the `iris` (FMA:58235).Anisocoria, or unequal pupil size, may represent a benignInequality of refractive power of the two eyes.Individuals with anomalous trichromacy possess three ty

A `cataract` (HP:0000518) that affects the anterior part A conical projection of the anterior surface of the lens,A `polar cataract` (HP:0010696) that affects the `anterioA type of `anterior polar cataract` (HP:0001134) which prAbnormal development (dysgenesis) of the anterior segm

A type of cataract affecting the `Anterior pole of lens`Adhesions between the iris and the cornea.Inflammation of the uveal tract in which the primary siteCongenital absence of the fovea.A developmental defect characterized by absence of theAbsence or underdevelopment of the `anterior segment`

Absence or underdevelopment of the uvea, the pigmented mAbsence or underdevelopment of the `choroid` (FMA:58Congenital absence or underdevelopment of the `fovea cAbsence or underdevelopment of the `iris` (FMA:58235)Absence or underdevelopment of the lens.

Absence or underdevelopment of the lacrimal gland.Astigmatism describes a refractive error characterized byA difference in the amount of intraocular pressure in the

Congenital absence or closure of the opening of the lac

Axenfeld's anomaly is a bilateral disorder characterizedAn `abnormality of the cornea` (HP:0000481) characterize

Congenital abnormal dilation of the pupil on both sides.

Keratinization of the `bulbar conjunctiva` (FMA:59024) neaBlindness is the condition of lacking visual perception duA form of monochromacy in which vision is derived fromA markedly blue coloration of the iris.An abnormal bluish coloration of the `sclera` (FMA:5826Lack of sharpness of vision resulting in the inability to seA term for the pigmented cells within the retina in retinThe presence of whitish spots in a ring-like arrangement aProgressive maculopathy characterized by concentric reBuphthalmos refers to a congenital open-angle glaucoma oButterfly-shed retinal pigmentation at the level of the retA cataract that affects the `capsule of the lens` (FMA:58A cataract is an opacity or clouding that develops in the

Microscopic aneurysms of the retinal arterioles near the cThe presence of distinct colors in the central (pupillary) zReduced transparency of the central portion of the corneReduced transparency of the central posterior portion of

The presence of an increased number of twists and turns oAn area of depressed vision located at the point of fixatio

A scotoma (area of diminished vision within the visual fieCerulean cataracts are a kind of `congenital cataract` (H

Edema (swelling) of the bulbar conjunctiva.Pallor of the perifoveal macula of the retina with appearAn abnormality of the choroid and retina.Atrophy of the choroid and retinal layers of the fundus.Absence of a region of the retina, retinal pigment epitheAbnormal development of the choroid and retina.

Chorioretinal hypopigmentation and hyperpigmentationPunched out lesions in the pigmented layer of the retina.

An inflammation of the choroid and retina.

A congenital defect in which a portion of choroid is not Hemorrhage from the vessels of the choroid.Degeneration of the `choroid` (FMA:58298).

The presence of multiple hemangiomas in the choroid. ThMalignant tumor of melanocytes of the choroid. The claChoroidal neovascularization (CNV) is the creation of neChoroidal sclerosis is a descriptive term applied to the

A chronic irritative conjunctivitis, which commonly presenMalignant tumor of melanocytes of the ciliary body.A developmental defect characterized by a cleft of someA tendency to hold the child elevated by about 20 to 30

The condition of having both rods and cones, but only a s

A type of `Horner syndrome` (HP:0002277) with congenit

Blindness with onset at birth.A congenital `cataract` (HP:0000518).

Congenital abnormality of the `extraocular muscles` (FCongenital non-progressive ophthalmoplegia with multiple

Horizontal nystagmus dating from or present at birth.Sharply demarcated, congenital hyperpigmentation of thrAbnormal (non-physiological) constriction of the pupil ofMyopia apparent at birth.A type of `congenital cataract` (HP:0000519) in which theNystagmus dating from or present at birth.A developmental defect resulting in congenital absence of

A nonprogressive (i.e., stationary) form of difficulties wi

A form of `amyloidosis` (HP:0011034) that affects the `A hamartoma (disordered proliferation of mature tissues)A lipoma (a benign tumor composed of adipose tissue) loPresence of nodules in the `conjunctiva` (FMA:59011) oThe presence of small (ca. 0.5-1.0 mm) dilated blood vThe presence of whitish deposits in the `conjunctiva` (Inflammation of the `conjunctiva` (FMA:59011).

A 'coral-like' pattern of opacity in the lens of the eye. ThaA hazy, grayish-white ring about 2 mm in width located clThe presence of a size difference between the left and r

An `abnormality of the cornea` (HP:0000481) that is charAn erosion or abrasion of the cornea's outermost layer of Corneal guttata are droplet-like accumulations of non-bIngrowth of new blood vessels into the cornea.A reduction of corneal clarity.A rupture of the cornea through which a portion of the iri

Abnormal accumulation of fluid and swelling of the `str

Disruption of the epithelial layer of the cornea with invoDevelopmental abnormality in which the lens and corneaA cataract which affects the layer of the lens surroundinA type of cataract characterized by punctate, dust-like opaA form of loss of vision caused by damage to the visual c

A form of macular degeneration characterized by the preCystoid macular edema (CME) is any type of macular edeInflammation of the nasolacrimal sac.

An abnormally reduced response to stimulation of the cornReduced ability of the cornea to respond to stimulation.A decreased anteroposterior thickness of the cornea.An abnormal reduction in amplitude of the signal opf elecDescreased amplitude of eletrical response upon electroAbnormally decreased lacrimation, that is, reduced abilit

Decreased retinal pigmentation with dispersionIncreased depth of the anterior chamber, i.e., the antero

A type of `posterior cortical cataract` (HP:0010924) char

Depigmented lesions of the retinal pigment epitheliumPresence of folds in the Descement membrane, which is A type of anomalous trichromacy associated with abnormaComplete lack of the M photopigment, which is replaced Individuals affected by dichromacy possess only two typeOpacity of the entire `lens nucleus` (FMA:58971).A pale yellow discoloration of the entire optic disc.

Diplopia is a condition in which a single object is perceiDownbeat nystagmus is a type of fixation nystagmus withDrusen (singular, 'druse') are tiny yellow or white accumuDuane anomaly is a congenital eye movement impairment wA form of colorblindness in which only two of the three fThe controller signal for saccadic eye movements has twoDislocation or malposition of the crystalline lens of the eA malposition of the `pupil` (FMA:58252) owing to a develPositioning of a lacrimal punctum other than at the media

Abnormally big lacrimal glands.An epibulbar dermoid is a benign tumor typically found atAn epiretinal membrane is a thin sheet of fibrous tissueInflammation of the `episclera` (FMA:58362), a thin layer A form of strabismus with one or both eyes turned inwardA form of strabismus with one or both eyes deviated outParalysis of the external ocular muscles.A type of retinal detachment associated with leakage of f

An area of the retina that is buckled so that a sector-shap

Cornea plana is an abnormally flat shape of the cornea s

This term has been used as a general description of degenIncreased amount of pigmentation in the `fovea centrali

Decreased amount of pigmentation in the `fovea centralSplitting of the retinal layers in the macula.

Horizontal nystagmus made apparent by looking to the righNystagmus made apparent by looking to the right or to thGeneralized reduced transparency of the stroma of the Glaucoma refers loss of retinal ganglion cells in a chara

The presence of central, fine, whitish granular lesions Gustatory lacrimation results from an aberrant innervatioA hamartoma (disordered proliferation of mature tissues)A visual defect characterized by the inability to see as cTransient hemianopsia associated with the aura phase oPartial or complete loss of vision in one half of the visualBleeding from vessels of the various tissues of the eye.The presence of one or more dendritic corneal epithelial Heterochromia iridis is a difference in the color of the `A severe form of hypermetropia with over +4.00 diopters

Nystagmus consisting of horizontal to-and-fro eye movemeNystagmus consisting of horizontal to-and-fro eye move

Nystagmus consisting of horizontal to-and-fro eye movemA supranuclear gaze palsy is an inability to look in a horAn abnormality resulting from a lesion of the sympatheticA saccade that overshoots the target with the dynamic An abnormality of refraction characterized by the ability

A form of astigmatism in which one meridian is hyperopic wIncreased amount of pigmentation of the retina.

Bleeding in the anterior chamber of the eye.Saccadic undershoot of horizontal saccadic eye movementsSaccadic undershoot, i.e., a saccadic eye movement that Decreased amount of pigmentation of the retina.

Underdevelopment of the `choroid` (FMA:58298).Underdevelopment of the `ciliary body` (FMA:58295).Underdevelopment of the `fovea centralis` (FMA:58658)Congenital underdevelopment of the `iris` (FMA:58235).Underdevelopment of the `dilatator pupillae` (FMA:49158Underdevelopment of the lacrimal puncta.Underdevelopment of the `stroma of iris` (FMA:58526).

Reduced ability to turn the eyes inward in order to focuAn `abnormality of ocular smooth pursuit` (HP:0000617) cAn impaired ability of the eye to move in the outward dirReduced ability to move the eye in the direction of the n

An impairment of the ability to track objects with the ocAn increase in the degree of curvature of the cornea coA increased anteroposterior thickness of the cornea.An elevation in the ratio of the diameter of the cup of th

Abnormally increased lacrimation, that is, excessive tear

Partial displacement of the lens in the inferior direction.Inflammation of the eye, parts of the eye or the periorbitaInflammation of the uveal tract in which the primary site

Paralysis of the iris and ciliary apparatus.A malignant melanoma originating within the eye. The tumRetinal exudate within the retinal tissue itself.A type of `posterior subcapsular cataract` (HP:0007787) The presence of a coloboma of iris, choroid and retina.A type of anterior uveitis, in which there is Inflammation oTremulousness of the iris on movement of the eye, occurrThe presence of a coloboma affecting the `iris` (FMA:582Atrophy of the `iris` (FMA:58235).A `coloboma` (HP:0000589) of the `iris` (FMA:58235).An iris cyst is composed of a single cell layer of epitheliumReduction in the amount of blood flow to the iris.An abnormal reduction in the amount of pigmentation of Malignant tumor of melanocytes affecting the iris.New growth of vessels on the surface of the iris.A benign brown pigmented area over the iris representing pShedding of the pigment granules that normally adhere toTransmission of light through the iris as visualized upon Inflammation of the `iris` (FMA:58235).

A type of cataract that is not apparent at birth but that

Juvenile posterior subcapsular lenticular opacities

Grey-green or brownish-pigmented ring in the deep epitheInflammation of the cornea.Inflammation of the cornea and conjunctiva.Dryness of the eye related to deficiency of the tear film A cone-shaped deformity of the cornea.Limbus-to-limbus corneal thinning, often greatest in the A congenital defect resulting in absence of the lacrimal dA developmental disorder of the lacrimal drainage system

Narrowing of a tear duct (lacrimal duct).A congenital defect of development characterized by absUnderdevelopment of the lacrimal gland.Abnormality of tear production.

A `congenital cataract` (HP:0000519) in which opacity is liA `Lamellar cataract` (HP:0007971) with a pulverulent (p

The presence of fine, branching linear opacities in Bow

Degeneration of retinal ganglion cells and their axons.A sectoral indentation of the crystalline lens, usually dComplete dislocation of the lens of the eye.Partial dislocation of the lens of the eye.A conical projection of the anterior or posterior surfaceExaggerated curvature of the lens of the eye, producing aA zone of darker pigmentation around the central part of An abnormal white reflection from the pupil rather than thAtrophy of the `levator palpebrae superioris` (FMA:49041)

A creamy appearance of the retinal blood vessels that occThe presence of pigmented, oval and dome-shaped raise

A congenital defect of the macula distinct from coloboma Degeneration of the `macula lutea` (FMA:58637).Macular dystrophy is a nonspecific term for premature retPale often indistinct lesions of the macula.A macular hole is a small break in the macula, located in Increased amount of pigmentation in the `macula lutea`Decreased amount of pigmentation in the `macula luteaUnderdevelopment of the `macula lutea` (FMA:58637).Mottled (spotted or blotched with different shades) pig

Splitting of the retina in the macular region.

An enlargement of the `cornea` (FMA:58238) with normal A form of cataract in which the lens substance has shrunk,A visual anomaly in which images appear distorted. A griA congenital abnormality of the `cornea` (FMA:58238) inAbnormal smallness of the `lens` (FMA:58241).

Abnormal (non-physiological) constriction of the pupil.Complete color blindness, a complete inability to disting

Deposits of various size, shape, consistency, refractive Sharply demarcated hyperpigmentation which is congenitAbnormal dilatation of the iris.An abnormality of refraction characterized by the ability Blockage of the ` lacrimal duct` (FMA:61063).The presence of a `neoplasm` (MPATH:218) of the eye.

Neovascularization of peripheral and posterior retinaInability to see well at night or in poor light.

An acute condition characterized by sudden visual loss (A form of `uveitis` (HP:0000554) that is not associated

A form or retinal dystrophy that is present at birth and dNonprogressive restriction of movement of the external oc

A nuclear cataract is an opacity or clouding that develoA type of `nuclear cataract` (HP:0008024) involving conge

Rhythmic, involuntary oscillations of one or both eyes reHead movements associated with nystagmus, that may reAn abnormal reduction in the amount of pigmentation (reInability to follow objects visually with compensatory hReduced ability to control the movement of the eye assocLack of transparency of the `corneal epithelium` (FMA:5Reduced transparency of the `stroma of cornea` (FMA:5Ophthalmoplegia is a paralysis or weakness of one or m

Spontaneous, non-rhythmic, multi-directional, chaotic m`Atrophy` (MPATH:127) of the `optic nerve` (FMA:50863).

Optic disc drusen are acellular, calcified deposits withiUnderdevelopment of the optic disc, that is of the optic A pale yellow discoloration of the optic disk (the area ofCongenital absence of the `optic nerve` (FMA:50863).A cleft of the optic nerve that extends inferiorly.

The presence of `developmental dysplasia` (MPATH:64) Underdevelopment of the `optic nerve` (FMA:50863).`Inflammation` (MPATH:212) of the `optic nerve` (FMA:

Inflammation of the uveal tract in which inflammation affePapilledema refers to edema (swelling) of the optic disc Sudden-onset episode of abnormal, involuntary eye moSectoral aplasia of the iris.

Patchy atrophy of the retinal pigment epitheliumRhythmic, involuntary sinusoidal oscillations of one or

A scotoma (area of diminished vision within the visual fielChorioretinal atrophy concentrated around the optic papillReduced transparency of the peripheral region of the co

Loss of peripheral vision with retention of central vision, r

Persistence of the hyaloid artery, which is the embryonicA failure of regression of the hyaloid vessel, which suppThe presence of remnants of a fetal membrane that persisA form of anterior segment dysgenesis in which abnormalTremulousness (trembling) of the lens of the eye.Excessive sensitivity to light with the sensation of discomAtrophy of the eyeball with blindness and decreased intrAccumulation of abnormal amounts of pigment within th

Bilaterally symmetrical chorioretinal atrophy, with accumA type of `Congenital cataract` (HP:0000519) in which theMultiple pupils.This corneal dystrophy affects the posterior limiting mA type of `sutural cataract` (HP:0010695) in which the opA cataract which is found in the back outer layer of the A `cataract` (HP:0000518) that affects the posterior partA posterior embryotoxon is the presence of a prominent A conical projection of the posterior surface of the lensA `polar cataract` (HP:0010696) that affects the `posteriA type of cataract affecting the `posterior pole of lensAdhesions between the iris and the lens.Inflammation of the uveal tract in which the primary site Presenile cataract is a kind of cataract that occurs in earA type of glaucoma with optic nerve damage in an eye th

A type of glaucoma with optic nerve damage in an eye wit

A kind of `cataract` that progresses with age.

Initial bilateral ptosis followed by limitation of eye mov

A `progressive` (PATO:0001818) form of `ptosis` (HP:0

A reduction of previously attained ability to see.Abnormal prominence of the corneal nerve fibers.A type of anomalous trichromacy associated with defectivBlue and green cones only; no functional red cones.Deposition of fibrillar material that can be found on alApparent optic disc swelling in the absence of increased The upper eyelid margin is positioned 3 mm or more lower tA kind of `congenital cataract` (HP:0000519) that is charaA type of cataract with punctate opacities of the `lens`

A type of keratitis characterized by inflammation in pinpoPunctate opacification (reduced transparency) of the co

The presence of recurrent corneal epithelial erosions. AAlternating and recurrent weakness of the external oculDifficulty with discriminating red and green hues.An abnormal reduction in the amplitude of the b-wave in

Reduced amplitude of pattern visual evoked potentialsA reduction in the number of corneal endothelial cells.Fibrosis of the external ocular muscles such that the eyesFibrosis of only some of the external ocular muscles such

The presence of an increased number of twists and turns oDecreased retinal arteriolar diameters, which may decreaBlockage of retinal arteriole, generally associated with iThe presence of an increased number of twists and turns o

A glial tumor of the retinal nerve fiber layer arising from

Deposition of calcium salts in the retina.A benign tumor of the retina that appears as a grouping oA notch or cleft of the retina.A deterioration of the retina. This nonspecific term is reSeparation of the inner layers of the retina (neural retinThe presence of `developmental dysplasia` (MPATH:64)

Fluid which has escaped from retinal bllod vessels with a Presence of multiple yellowish-white lesions of various siA hamartoma (a benign, focal malformation consisting of aRetinal hemangioblastoma is a benign vascular tumor of t`Hemorrhage` (MPATH:119) occurring within the `retinaA small break in the retina.

Retinal lesions can occur due to multiple reasons for e

The presence of a `neoplasm` (MPATH:218) of the retinFailure of attachment of the retina during development.A small hole through the whole thickness of the retina.

Dilatation of small blood vessels of the retina.

The presence of an increased number of twists and turns Blockage of the retinal vein.Hereditary degeneration and atrophy of the retina.A variant of retinitis pigmentosa characterized by areas A tumor of the eye originating from cells of the retina.Any noninflammatory disease of the retina. This nonspecif`Optic neuritis`(HP:0100653) that occurs in the section oA type of retinal detachment associated with a retinal tea

A congenital malformation of the anterior segment characA condition where the retina contains no functional cone celA form of nystagmus in which the eyeball makes rotary mAn abnormality of tracking eye movements in which smooPresence of multiple aneurysms (sac-like outpouchings) iMottling (Spots or blotches with different shades) of the A scintillating scotoma is a common visual aura that can

Inflammation of the `sclera` (FMA:58269).A congenital anomaly in which a part or the whole of the Scotoma refers to an area or island of loss or impairment Seesaw nystagmus is a type of pendular nystagmus where aUnderdevelopment of the optic nerve and absence of thAn ophthalmologic sign in young children resulting from A severe form of myopia with greater than -6.00 diopters

Reduced depth of the anterior chamber, i.e., the anteropSharply demarcated hyperpigmentation which is congenita

An abnormally slow velocity of the saccadic eye movemeAn abnormally slow velocity of horizontal saccadic eyeThe appearance of yellow/white crystalline-like (hence thThe combination of pendular nystagmus, head nodding, an

Rupture of the eyeball not due to trauma.

A lacy pattern or iris pigmentation that resembles the spStrabismus (also known as squint) is a condition in whic

A cataract that affects the region of the lens directly bBleeding beneath the mucous membrane that lines the inn

A type of retinal exudate located in the subretinal space

Partial dislocation of the lens in a superior direction.Atrophy of the `superior rectus` (FMA:49035), the extraoA supranuclear gaze palsy is an inability to look in a par

A type of `congenital cataract` (HP:0000519) in which the

A pale yellow discoloration of the temporal (lateral) portioAn abnormality of the pupillary light reaction characterizThe presence of an increased number of twists and turns A `Congenital cataract` (HP:0000519) characterized by an

A type of retinal detachment associated with traction exerA `nuclear cataract` (HP:0008024) with a triangular formDifficulty distinguishing between yellow and blue, possib

A `unilateral` (PATO:0000634) form of ptosis.A type of strabismus`(HP:0000486) in which only one eye isIn primary position the Upbeat nystagmus beats upward. TInflammation of one or all portions of the uveal tract.Vertical nystagmus may present with either up-beating A supranuclear gaze palsy is an inability to look in a verNystagmus due to disturbance of the vestibular system;

Visual impairment (or vision impairment) is vision loss (Loss of visual acuity (implying that vision was better at aVitelliform maculopathy is a sharply demarcated lesion cInflammation of the vitreous body.

Gradual deterioration of the vitreous humor and retina.

Bleeding within the vitreous compartment of the eye.

Zonular cataracts are defined to be cataracts that affect

An abnormality of the birth process.

An abnormally elevated or decreased level of a maternalA deviation from normal size of the placenta.

An abnormality of the placenta (the organ that connects th

An abnormality of the fetus or the birth of the fetus, exclAbnormality of the amniotic fluid, which is the fluid contAn abnormality of the placenta, the organ that connects

An abnormality of the `umbilical cord` (FMA:85541), whicAn first-trimester prenatal ultrasound finding of abnormalBy the 14th week of gestation it is nearly always possibAnnular constrictions around the digits, limbs, or trunk,A position of the fetus at delivery in which the fetus enter

Hemorrhage between the skull and periosteum of a newborHamartoma-like growth in the placenta consisting of bloA kind of `breech presentation` (HP:0001623) in which thAn abnormal reduction in quantity or strength of fetal mA narrow segment of significantly reduced circumference Echogenic bowel is defined as fetal bowel with homogenoA finding of a focus of increased echogenicity upon prenaAn acute and life-threatening complication of pregnancyThe cisterna magna is measured on a transaxial view of tDecreases fetal activity associated with multiple jointAccumulation of fluid in the peritoneal cavity during the fFetal choroid plexus cysts (CPCs) are sonographically disFifth finger clinodactyly is defined by a hypoplastic or Abnormally increased production of urine by the fetus rAn finding upon obstetric ultrasound examination performe

A kind of `breech presentation` (HP:0001623) in which tAn abnormally high concentration of serum alpha-fetoproAn abnormally high concentration of maternal serum humAn abnormality of the placenta in which there are numerThe abnormal accumulation of fluid in two or more fetal cExcessive vomiting in early pregnancy, leading to the loOn prenatal ultrasound, the nasal bone is a thin echogeniA kind of `breech presentation` (HP:0001623) in which onAn abnormal increase in quantity or strength of fetal mThe presence of an abnormally large hypoechoic space inIncreased size of the `placenta` (FMA:63934).Increased length of the `umbilical cord` (FMA:85541).An abnormally low concentration of serum PAPP-A (pregnAn abnormally low concentration of serum alpha-fetoprotAn abnormally low concentration of maternal serum humaAn abnormally high concentration of serum conjugated esThe presence of circulating autoantibodies to anticardioliA medical history of a fetus or child born to a mother wA medical history of exposure during the fetal period tIncreased blood pressure during a pregnancy.

A medical history of exposure of the mother of a child oVirilization (deepening of voice, facial hirsutism and sAmniotic fluid containing the earliest stools of a mammaliA type of `hydrops fetalis` (HP:0001789) in which there isA complication of pregnancy and delivery in which the umDiminished amniotic fluid volume in pregnancy.

Separation of the placenta from the uterus wall before de

The presence of excess amniotic fluid in the uterus durPregnancy-induced hypertension in association with signiThe birth of a baby of less than 37 weeks of gestational

Premature delivery because of cervical insufficiency or membrane fragilityPremature rupture of membranes (PROM) is a condition w

An abnormality of fetal movement.Repeated episodes of abortion (Expulsion of the product o

A short femur length is defined as either a measurementA short humerus length is defined as a length below theDecreased length of the `umbilical cord` (FMA:85541).Shoulder dystocia occurs when the fetal anterior shouldeSingle umbilical artery (SUA) is the absence of one of theA deviation from equal (50%) inactivation of each parenReduced size of the `placenta` (FMA:63934).A pregnancy that ends at a stage in which the fetus is iPregnancy-induced toxic reactions of the mother that caDelivery of newborn by means of a ventouse, a vacuum d

premature birth following premature rupture of fetal membranes

Any anomaly of the `inflammatory response` (GO:0006954)An abnormality of the morphology or counts of the cell

An abnormality of the complement system.An abnormality in the production or cellular release of aAn abnormality of the humoral immune system, which coAn abnormality of the concentration or function of circulA functional abnormality of the `immune system` (FMA:9

Abnormality of the cytokine levels in the blood, i.e., anAbnormality of the alternate complement pathway

An abnormality of the `immune system` (FMA:9825).A `lymph node` (FMA:5034) abnormality.An anomaly of the lymphatic system, a network of lymphatic

Abnormality of the `thymus` (FMA:9607), an organ locatedAn abnormality of the `tonsils` (FMA:9609).

Absence of germinal centers in `lymph nodes` (FMA:5034)An allergy is an immune response or reaction to substancAn acute hypersensitivity reaction due to exposure to a The presence of autoantibodies in the serum that react aThe presence of autoantibodies in the serum that react The presence of circulating autoantibodies to phospholipAbsence of the `thymus` (FMA:9607).Absence or underdevelopment of the `thymus` (FMA:960

The occurrence of an immune reaction against the organ

The presence of cellulitis (a diffuse inflammation of conA chronic form of `lymphadenopathy` (HP:0002716) that isPersistence of immune complexes in the blood circulatio

Hypersensitivity in form of an adverse immune reaction aIncreased level of cryoglobulins in the blood. CryoglobAn abnormal reduction in the `inflammatory response` (G

An impairment in the production by leukocytes of NFKB1Depletion of components of the alternative complement pathwayDysfunctional alternative complement pathway

The presence of ectopic `thymus` (FMA:9607) tissue. Norm

Failure to thrive secondary to recurrent infectionsLymphadenopathy (enlargement of lymph nodes) owing to hA generalized form of `lymphadenopathy` (HP:0002716)A severe virus infection of the central nervous system bCongenital underdevelopment of lymph vessels.Underdevelopment of the `thymus` (FMA:9607).

A abnormal increase in the `inflammatory response` (GO:Allergy to iodine contrast media used in radiological studUnderdevelopment of the `lymph nodes` (FMA:5034).Inflammation of a `lymph node` (FMA:5034).Enlargment (swelling) of a `lymph node` (FMA:5034).

Swelling of lymph nodes within the mediastinum, the centA benign or malignant `neoplasm` (MPATH:218) (tumour)A fungal infection of the toenails or fingernails that tends

Partial functional complement factor D deficiency

The presence in the serum of autoantibodies directed aAn increased susceptibility to Aspergillus infections, as Increased susceptibility to infections with Burkholderia cIncreased susceptibility to infections with Escherichia coIncreased susceptibility to Haemophilus influenzae infecIncreased susceptibility to Klebsiella infections, as maniRecurrent infections by bacteria of the genus Neisseria,

Increased susceptibility to Serratia marcescens infectiIncreased susceptibility to Staphylococcus aureus infectAn increased susceptibility to abscess formation, as manIncreased susceptibility to bacterial infections, as manifAn increased susceptibility to candida infections, as manIncreased susceptibility to enteroviral infections, as manIncreased susceptibility to fungal infections, as manifestIncreased susceptibility to infection by gram-negative baIncreased susceptibility to microbial infections, as manifRecurrent infections at an early age with improvement inRecurrent infections by Neisseria meningitidis (one of Increased susceptibility to mycobacterial infections, as Increased susceptibility to mycobacterial avium complex Increased susceptibility to opportunistic infections, as Increased susceptibility to protozoan infections, as mani

Increased susceptibility to viral infections, as manifestedThe presence in the serum of an autoantibody directed agAn allergy experienced at a particular time of year when tSystemic inflammatory response to infection.

Severe combine immunodeficiency (SCID) is a primary im

The presence in serum of antibodies against smooth mu

A chronic, relapsing, inflammatory, and often febrile mulIncreased susceptibility to infection by the protozan par

A tumor originating from the epithelial cells of the `thyEnlargement of the `thymus` (FMA:9607).An inflammation of the `tonsils` (FMA:9609).

Abnormal location of the `ear` (FMA:52780).

A type of hearing impairment prominently characterized bAn abnormality of the vestibulo-ocular reflex (VOR). TAn abnormality of the `cochlea` (FMA:60201).An abnormality of the `lobule of pinna` (FMA:60984).An abnormality of the inferior crus of the antihelix is th

An abnormality of the stem of the antihelix, which is the pAn abnormality of the superior crus of the antihelix is thAn abnormality of the `antihelix` (FMA:60995).An abnormality of the antitragus, which is a small tubercAn abnormality of the `External acoustic tube` (FMA:617

An abnormality of the `crus of the helix (FMA:61024), whiAn abnormality of the `ear` (FMA:52780).An abnormality of the `helix` (FMA:60992). The helix is thAn abnormality of the `incus` (FMA:52752), an ossicle inAn abnormality of the `inner ear` (FMA:60909).An abnormality of the `Internal acoustic meatus` (FMA:531An abnormality of the `malleus* (FMA:52753), an ossicle An abnormality of the `middle ear` (FMA:56513).An abnormality of the middle-ear ossicles (three small boAn abnormality of the `external ear` (FMA:52781).An abnormality of the `pinna` (FMA:56580), which is also An abnormality of the `stapes` (FMA:52751), a stirrup-shAn abnormality of the `tragus` (FMA:60998).

Absence of the acoustic reflex, an involuntary contractioNo discernible ridge between concha and triangular fossAbsence of the anterosuperior prominence of the area betContinuum between the tragus and ascending helix, withoAbsence of fleshy non-cartilaginous tissue inferior to theAplasia of the internal auditory canal.Aplasia of the `malleus` (FMA:52753).Aplasia of the `stapes` (FMA:52751).

Lack of convexity or prominence of the contour of the riComplete lack of functioning of the vestibular apparatus.Acute otitis media is a short and generally painful infectiSupernumerary ridge or crus of the ear arising from the aThe presence of `sensorineural deafness` (HP:0008538) Partial or complete loss of hearing following ingestion ofAntihelical ridge that forms an acute angle between the anComplete absence of any auricular structures.Sharply demarcated, typically linear and approximately hoAntihelix protrusion directed more anteriorly than lateralAbsence of the inner ear due to a developmental defect.Absence of the middle ear ossicles, `malleus` (FMA:527Absence of the semicircular canal.Absence of the vestibular nerve.Complete absence of the vestibule of the inner ear.Absence or underdevelopment of the cochlea, a spiral shThe presence of `aplasia` (MPATH:58) or developmentalAbsence or underdevelopment of the ear lobes.The presence of `aplasia` (MPATH:58) or developmental h`Aplasia` (MPATH:58) or developmental hypoplasia of th`Aplasia` (MPATH:58) or developmental hypoplasia of all`Aplasia` (MPATH:58) or developmental hypoplasia of thAn `asymmetriy` (PATO:0000616), i.e., difference in sizeAbsence or failure to form of the external auditory canal.Attachment of the lobe to the side of the face at the lowDouble rather than single peak of the antitragus.

Increased height of the tragal ridge with a shallow indenA `bilateral` (PATO:0000618) type of `conductive heariA `bilateral` (PATO:0000618) form of `sensorineural heIncreased width of the inferred cross-section of the inferiOssification affecting the `external ear cartilage` (FMA:`Sensorineural hearing impairment` (HP:0008538) with cCholesteatoma is a benign but potentially destructive grInflammation of the cartilage of the external ear.Chronic otitis media refers to fluid, swelling, or infect

Discontinuity in the convexity of the inferior margin of thA `notched` (PATO:0001495) form of the `helix` (FMA:60992Absence of the cochlea, a spiral shaped cavity in the in`Degeneration` (PATO:0002037) of the `cochlea` (FMA:The presence of a `malformed` (PATO:0000646) `cochlAn abnormality of `vibrational conductance of sound to A type of `conductive deafness` (HP:0000367) with `con

A type of `hearing impairment` (HP:0000365) caused byA form of `stapes ankylosis` (HP:0000381) with congenitLinear, circumferential indentation in the convexity of theDistortion of the course of the normal folds of the ear Extension of the ridge of the crus helix across the ear anInvagination of the superior part of the auricle under a foLaterally protruding ear that lacks antihelical folding (in

Small defect of the helical fold that lies at the junction Small expansion of the helical fold at the junction of theThe presence of a dilated `inner part of external acousDilatation of the vestibule of the inner ear.Interruption between the ascending helix and the crus helA complete or partial duplication of the tragus; expected Increased size of the `cochlear duct` (FMA:61119), i.e.,Increased size of the semicircular canal.Increased size of the vestibular aqueduct.Positioning of the antitragus at an angle perpendicular tA benign bony growth projecting outward from a bone surWidening, rather than tapering, of the crus at its posterioA malformation of the `auricle of the ear` (FMA:56580).Positioning of the anterior surface of the ear lobe in a An abnormality of the function of the inner ear.An abnormality of the function of the middle ear.Bony fusion of `malleus` (FMA:52753), `incus` (FMA:52An abnormality of the `sensory perception of sound` (GA `decreased magnitude` (PATO:0002018) of the `sensoA type of `hearing impairment` (HP:0000365) affecting prA form of `sensorineural hearing impairment` (HP:0008538An abnormal `horizontal` (PATO:0001855) axis orientation oOver-sensitivity to certain frequency ranges of sound.

Developmental hypoplasia of the `antihelix` (FMA:60995Developmental hypoplasia of the `cochlea` (FMA:60201)

Underdevelopment of the semicircular canal.Underdevelopment of the vestibular nerve.Underdevelopment of the vestibule of the inner ear.Underdevelopment of the `helix` (FMA:60992), i.e., of the

Incomplete formation of the cochlear partition. The scalaThe cochlea is lacking the entire modiolus and cribriformThe cochlea is lacking the entire modiolus and cribriformA form of `sensorineural hearing impairment` (HP:000040Increased volume of the earlobe, that is, abnormally pr

Anterior and inferior folding of the upper portion of the eA type of `hearing impairment` (HP:0000365) affecting pA form of `sensorineural hearing impairment` (HP:0008538Upper insertion of the ear to the scalp below an imaginarEars that are low-set (HP:0000369) and posteriorly rotaMedian longitudinal ear length greater than two standardUnderdevelopment of the `external ear` (FMA:52781).Presence of all the normal ear components and the mediMedian longitudinal length of the ear more than two stanPresence of some auricular structures, but none of theA type of `hearing impairment` (HP:0000365) affecting pA `mild` (PATO:0000394) form of `conductive hearing iThe presence of a `mild` (PATO:0000394) form of `hearThe presence of a `mild` (PATO:0000394) form of `sensA type of hearing loss resulting from a combination ofThe presence of a `moderate` (PATO:0000395) form of The presence of a `moderate` (PATO:0000395) form of The presence of a `moderate` (PATO:0000395) form of `

An abnormality of the morphology or structure of the midMorphological abnormality of the nerves of the inner ear

An abnormality of the morphology of the `semicircular cA morphological abnormality of the vestibule, the central Reduction in diameter of the internal auditory canal.A neoplasm` (MPATH:218) of the ear.A neoplasm` (MPATH:218) of the `middle ear` (FMA:56Inflammation or infection of the middle ear.In otosclerosis, a callus of bone accumulates on the stapA condition in which the `helix` (FMA:60992) is `folded` A condition in which the superior portion of the `helix`Paroxysmal episodes of vertigo.Benign congenital lesions of the periauricular soft tissuePersistence of the stapedial artery, which normally regre

The presence of an extra auricle on one or both sides of

Benign congenital lesion of the postauricular soft tissue A rudimentary tag of ear tissue often containing a core of Permanent indentation on the posteromedial aspect of theA type of `abnormal location of the ears` (HP:0000357) in A form of `sensorineural hearing impairment` (HP:0000407Small indentation anterior to the insertion of the ear.A groove of the skin immediately in front of the ear.A rudimentary tag of ear tissue often containing a core of A form of `sensorineural deafness` (HP:0008538) with eitA profound (essentially complete) form of `hearing impComplete loss of hearing related to a sensorineural defeA `progressive` (PATO:0001818) type of `conductive deA `progressive` (PATO:0001818) form of `hearing impaiA `progressive` (PATO:0001818) form of `sensorineuralThe presence of an abnormally `prominent` (PATO:00014Increased anterosuperior prominence of the area between The presence of an abnormally `prominent` (PATO:0001482Abnormally prominent ear helix.Increased protrusion of the inferior crus relative to the Increased protrusion of the antihelical ridge, proximal to iIncreased protrusion of the superior crus relative to theIncrease posterolateral protrusion of the tragus.Angle formed by the plane of the ear and the mastoid bonPulsatile tinnitus is generally classified a kind of objePulsatile tinnitus related to a tympanic paraganglioma, Increased susceptibility to otitis media, as manifested by

A type of `hearing impairment` (HP:0000365) in one orCurving course of the crus of the helix, approaching or joPosterior curving of the antihelix from its origin at the A `severe` (PATO:0000396) form of `conductive hearingA `severe` (PATO:0000396) form of `hearing impairmenA `severe` (PATO:0000396) form of `sensorineural hearA type of stenosis of the external auditory meatus in whiReduced volume of the earlobe.The presence of a `supernumerary` (PATO:0002002), i.e. thStapes ankylosis refers to congenital or acquired fixatiAn abnormal narrowing of the external auditory canal.

Benign congenital lesion of the supraauricular soft tissueA congenital malformation characterized by the union orThe presence of `telangiectasia` (MPATH:476) of the `e

`Increased thickness` (PATO:0000591) of the`helix` (FM`Decreased thickness` (PATO:0000592) of the`helix` (FMTinnitus is an auditory perception that can be described The anterior origin of the crus encompasses the superiorHearing loss that occurs acutely and resolves completelA type of cryptotia associated with reduction in size of thA type of cryptotia associated with reduction in size of th

Reduction in the anterosuperior prominence of the area bDevelopmental hypoplasia of the `crus of the helix (FMA:6Decreased protrusion of the inferior crus relative to the Decreased protrusion of the antihelical ridge, proximal to Decreased protrusion of the superior crus relative to thDecreased posterolateral protrusion of the tragus.Underdevelopment of the helix that either affects the entirA condition in which the superior portion of the `helix`A `unilateral` (PATO:0000634) `absence` (PATO:000046

An abnormal orientation of the earlobes such that they poAn abnormal sensation of spinning while the body is actuVestibular areflexia can be measured as the absence ofAn abnormality of the functioning of the vestibular apparReduced functioning of the vestibular apparatus.

Any anomaly in the amount of glycogen in muscle tissue

Any abnormality of the `skeletal muscle cell` (FMA:9727). A structural abnormality of a skeletal muscle.A functional abnormality of a skeletal muscle.Any abnormality of the size of the `skeletal muscle cell`An abnormality of the `pectoral muscle` (FMA:37349), com

Abnormality originating in one or more muscles, i.e., of

A disease or lesion affecting the muscles of the thorax.Aplasia (congenital absence) of the `pectoralis minor`

An acute form of `rhabdomyolysis` (HP:0003201).`Rhabdomyolysis` (HP:0003201) induced by intake of alThe presence of skeletal muscular atrophy (which is alMuscular atrophy affecting the muscles of the pelvis.`Rhabdomyolysis` (HP:0003201) induced by anesthesia.Absence of the musculature.Absence or underdevelopment of the musculature.

Aplasia/Hypoplasia of the musculature of the pelvisMuscular hypotonia of one or more limbs.Stiffness of the limbs (acondition in which muscles canThe lysosomal-vacuolar pathway has a role in the controStiffness (a condition in which muscles cannot be movedReduced strength of the axial musculature (i.e., of the mFormation of calcium deposits in any soft tissue.An abnormality in which the nuclei of sarcomeres take on

Sudden and involuntary contractions of one or more musAn involuntary and painless delay in the relaxation of ske

An abnormally reduced activity of the enzyme cytochromA decreased amount of glycogen in muscle tissue.

Depletion of mitochondrial DNA in muscle tissueDeposits immunoreactive to beta-amyloid protein

Reduced ability to climb stairs.Reduced ability to run.

Muscular atrophy affecting muscles in the distal portions Muscular atrophy of distal leg muscles.Reduced strength of the distal musculature of the legs.Reduced strength of the musculature of the distal extremReduced strength of the distal musculature of the arms.Abnormal results of investigations using electromyograElectromyographic (EMG) findings characteristic of axonalEvidence of chronic denervation on electromyography.Continuous electromyographic activity of motor units at rA compound muscle action potential (CMAP) is a type of An electromyographic finding associated with erratic orThe presence of abnormal electromyographic patterns indHigh frequency discharges in electromyography (EMG) thSpontaneous, repetitive electrical activity demonstrateThe presence of characteristic findings of denervation onThe presence of reduced conduction velocity of motor nRecurrent episodes of muscle flaccidity, a type of paralThe occurrence of repeated episodes of generalized mus

Sudden and involuntary contractions of one or more muscSudden and involuntary contractions of one or more muscAn abnormally increased tendency towards muscle fatiguA type of muscle stiffness that occurs following physical The occurrence of an unusually high amount of muscle pa`Rhabdomyolysis` (HP:0003201) induced by exercise.Muscle hypertrophy affecting the facial muscles.

Generalized congenital lack of development of the muscleGeneralized (diffuse, unlocalized) amyotrophy (muscle atGeneralized muscular hypotonia (abnormally low muscleGeneralized (unlocalized) atrophy affecting muscles of thHypertrophy (increase in size) of muscle cells in a generalGeneralized weakness or decreased strength of the muscl

Muscular hypotonia (abnormally low muscle tone) manifesA phenomenon whereby patients are not able to stand upDifficulty releasing one's grip associated with prolonged Reduced ability to flex the femur, that is, to pull the kne

Underdevelopment of the latissimus dorsi muscle, which iUnderdevelopment of the serratus anterior muscle, which Underdevelopment of the musculature.

An abnormal increase in intracellular lipid droplets In An abnormal, increased fatiguability of the musculature.An increased amount of glycogen in muscle tissue.An abnormal accumulation of lipids in skeletal muscle.An abnormally high degree of muscle fiber size variatioMuscular hypotonia (abnormally low muscle tone) affectinMuscular hypotonia (abnormally low muscle tone) manifes

Atrophy of the interosseus muscles (including the palmarBlood clot formed within muscle tissue following leakage

Lack of strength of the proximal musculature occuring late

Reduced strength and weakness of the muscles of the aMuscular atrophy affecting the muscles of the limb girdleWeakness of the limb-girdle muscles (also known as the pMuscular dystrophy affecting the muscles of the limb girMuscular atrophy affecting the lower limb.Weakness of the muscles of the legs.Severe hypertrophy (increase in size) of muscle cells.Multiple small zones of sarcomeric disorganization and laA type of myopathy associated with mitochondrial diseas

The presence of multiple deletions of mitochondrial DNMuscle abnormality related to mitochondrial dysfunction

Sudden and involuntary contractions of one or more mus

The presence of inclusion bodies within the cytoplasm of

The presence of inclusion bodies within the nucleus of muAbnormal cell death involving muscle fibers usually assoFiber splitting or branching is a common finding in humanUnusual regions of densely packed membranous tubules k

A type of paralysis in which a muscle becomes soft and yi

Hypertrophy (increase in size) of muscle cells (as opposMuscle hypertrophy primarily affecting the legs.

A condition in which muscles cannot be moved quickly Reduced strength of muscles.The term dystrophy means abnormal growth. However, mus

Muscular hypotonia is an abnormally low muscle tone (thMuscular hypotonia (abnormally low muscle tone) affectiA tendency to experience muscle pain.Myofibrillar structural changes characterized by abnormaA disorder of muscle unrelated to impairment of innervatA general term for inflammation of the muscles without rAn involuntary and painless delay in the relaxation of skeSlowed relaxation of muscles in the face.Slowed relaxation of muscles in the jaw.Slowed relaxation of muscles in the leg.Slowed relaxation of muscles in the arm.Myotonia that occurs after a period of rest and decreaseMuscle hypertrophy affecting the muscles of the neck.Underdevelopment of muscles of the neck.

Nemaline rods are abnormal bodies that can occur in skelMuscular hypotonia (abnormally low muscle tone) manifesMuscular atrophy that does not display a progression in sA type of myotonia that worsens with repeated muscle coMuscle hypertrophy affecting the paraspinal muscles.

Wasting of the pectoral muscles, i.e., of the pectoralis mUnderdevelopment of the `pectoralis major` (FMA:9627)Atrophy of the muscles of the pelvic girdle (also known asMuscular atrophy affecting the muscles that attach to theWeakness of the muscles of the pelvic girdle (also known aA localized myotonic contraction in a muscle in reaction

Percussion-induced rapid rolling muscle contractions (PIRC)

Weakness of the peroneal muscles.Difficulty to maintain correct position of the head while stProgressively reduced strength of the distal musculatureProgressive muscular atrophy affecting muscles in the dis

Lack of strength of the proximal muscles that becomes Progressive spinal muscular atrophy, i.e., muscular weakAmyotrophy (muscular atrophy) affecting the proximal m

A lack of strength of the proximal muscles.A lack of strength of the proximal muscles of the legs.A lack of strength of the proximal muscles of the arms.Proximal spinal muscular atrophy, i.e., muscular weaknesMuscular atrophy affecting proximally located muscles oWeakness of the quadriceps muscle (that is, of the musclAn abnormal appearance of muscle fibers observed on muBreakdown of muscle fibers that leads to the release of Presence of abnormal vacuoles (membrane-bound organelleRing fibers are formed by a bundle of peripheral myofibrilMuscle hypertrophy affecting the scapular muscles.

Muscular atrophy in the distribution of shoulder girdle

A severe degree of muscular hypotonia characterized b

Amyotrophy affecting the muscles of the shoulder girdle.Deposition of fat within muscles.

Muscular weakness and atrophy related to loss of the moWasting of the `sternocleidomastoid muscle` (FMA:13407),An abnormally increased number of mitochondria in theA disorder characterized by muscle twitches, cramps, a

Muscle hypertrophy affecting the thighs.Atrophy of the tibialis muscle.Muscle weakness affecting the tibialis anterior muscle.Multiple small zones of sarcomeric disorganization and laThe presence of abnormal muscle fiber size such that typAtrophy (wasting) affecting primary type 1 muscle fibersAn abnormal predominance of type I muscle fibers (in geAtrophy (wasting) affecting primary type 2 muscle fibersAn abnormal predominance of type II muscle fibers (in gAplasia (congenital absence) of the `pectoralis minor` (Hypoplasia (underdevelopment) of the `pectoralis minor`Weakness of the muscles of the arms.`Rhabdomyolysis` (HP:0003201) induced by a viral infec

An abnormality of Sharpey's fibers (bone fibers, or perfoAn abnormality of `adipose tissue` (FMA)20110), which Any abnormality of the soft tissues, including both connecAn abnormality of `fascia` (FMA:30318).Lack of `subcutaneous adipose tissue` (FMA:74315).

Absence of subcutaneous fat over entire body except buttocks, hips, and thighsA loss of `adipose tissue` (FMA:20110).

Reduced amount of `adipose tissue` (FMA:20110) in the

`Inflammation` (MPATH:212) of `fascia` (FMA:30318).Generalized degenerative changes of the fat tissue.

An increase in adipose tissue mass by hyperplastic growthThe presence of an abnormally increased amount of connAn abnormal increase in the amount of intraabdominal faAn abnormal increase in the amount of intramuscular fat The presence of an abnormally increased amount of subc

Localized loss of fat tissue.Degenerative changes of the fat tissue.

Loss (reduction of previously present) of `subcutaneousLoss of subcutaneous adipose tissue from upper limbs

Loss (reduction of previously present) of `subcutaneous

Nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoInflammation of `adipose tissue` (FMA)20110).The presence of an abnormally reduced amount of `sub

An abnormality of the `breast` (FMA:9601).An abnormality of the `nipple` (FMA:67771).

Absence or underdevelopment of the breasts.

The presence of `asymmetrical` (PATO:0000616) `breasUnderdevelopment of the `breast` (FMA:9601) on both s

The presence of a `carcinoma` (MPATH:549) of the `breThe presence of `hypertrophy` (MPATH:159) of the `breUnderdevelopment of the `breast` (FMA:9601).The presence of a `fibroma` (MPATH:407) of the `breasSpontaneous flow of milk from the breast, unassociated wiAbnormal development of large mammary glands in malesUnderdevelopment of the `areola` (FMA:67796), the circuUnderdevelopment of the `nipple` (FMA:67771).The presence of nipples that instead of pointing outwardPlacement of the nipples at a lower than normal locationBreast carcinoma that is bilateral or otherwise multifocalA `neoplasm` (MPATH:218) of the `breast` (FMA:9601).

Presence of more than two nipples.Underdevelopment of the `breast` (FMA:9601) on one siA larger than usual distance between the left and right n

Any abnormality of the voice.An abnormally low-pitched voice.The presence of a characteristic high-pitched cry that soAn abnormal increase in the pitch (frequency) of the voi

Hoarseness refers to a change in the pitch or quality of

Hyponasal speech is when there is an abnormally reduced

A type of speech characterized by the presence of an abImpairment in the physical production of speech sounds.

Reduced intensity (volume) of speech.

A type of soft tissue sarcoma with a histological appearaAngiofibroma consist of many often dilated vessels.

A malignant tumor of the bone which always arises in theA neoplasm of the face.Benign tumors that are composed of fibrous or connectiveA fibroblastic sarcoma is a malignant tumor derived from A rare, benign soft tissue tumor that typically occurs withiAny neoplasm composed of fibrous tissue.A disordered proliferation of mature tissues that is naA neoplasm containing histiocytes.A smooth muscle connective tissue tumor, which is rare Benign neoplasia derived from lipoblasts or lipocytes o

Malignant neoplasms which probably originate in primitiMalignant mesothelioma is a form of cancer that originatThe presence of a `melanoma` (MPATH:359), a malignant

A neoplasm of the mouth.The presence of multiple lipomas (a type of benign tissueA liposarcoma that contains myxomatous tissue.An organ or organ-system abnormality that consists of uNeoplasm categorized according to the anatomical site oNeoplasm categorized according to type of histological aA benign or malignant `neoplasm` (MPATH:218) (tumour)A neoplasm of the head and neck region with origin in theA benign or malignant `neoplasm` (MPATH:218) (tumour) oA benign or malignant `neoplasm` (MPATH:218) (tumour) A form of malignant cancer of the connective tissue surro

A benign tumor of striated muscle.

Presence of a lipoma in the region of the sacrum.The presence of a `sarcoma` (MPATH:551).A type of mesenchymal tissue cell tumor that exhibits epitA neoplasm of the trachea.

Spanish TranslationAnomalía del Sistema EsqueléticoSindactilia de dedos 1-2 de la manoSindactilia completa de dedos 1-2 del pieSindactilia de dedos 1-2 del pieSindactilia de dedos 1-3 de la manoSindactilia de dedos 1-3 del pieSindactilia de dedos 1-4 de la manoSindactilia de dedos 1-4 del pieSindactilia cutánea completa de dedos 1-5 de la manoSindactilia de dedos 1-5 de la manoSindactilia de dedos 1-5 del pieOnce pares de costillasSindactilia de dedos 2-3 de la manoSindactilia cutánea de dedos 2-3 del pieSindactilia de dedos 2-3 del pieSindactilia de dedos 2-4 de la manoSindactilia cutánea de dedos 2-4 del pieSindactilia de dedos 2-4 del pieSindactilia de dedos 2-5 de la manoSindactilia de dedos 2-5 de los piesHipoplasia de la segunda a la quinta falange media de los dedos de los pies Sindactilia cutánea completa de dedos 3-4 de la manoSindactilia de dedos 3-4 de la manoSindactilia de dedos 3-4 del pieSindactilia de dedos 3-5 de la manoSindactilia de dedos 3-5 del pieSindactilia de dedos 4-5 de la manoSindactilia de dedos 4-5 del pieSeis metacarpianosMorfología anormal de los huesos de las extremidadesEnvergadura anormalMorfología anormal del esqueleto axialMorfología anómala del colágeno fibrilar óseoOsificación ósea anormalEstructura ósea anormalCalcificación anormal de los huesos del carpoColágeno del cartílago anormalMatriz del cartílago anormalMorfología del cartílago anormalCurvatura cervical anormalMorfología anormal de la cortical ósea Morfología anormal de las diáfisisOsificación endocondral anormalOsificación epifisaria anormalOsificación anormal del hueso del piePliegues de flexión de los dedos de la mano anormalesAnomalía de la osificación de los huesos del pieForma anormal de los cuerpos vertebralesOsificación anormal del hueso de la mano

Morfología anormal de la manoOsificación anormal del húmeroOsificación intramembranosa anormalMorfología articular anormalMorfología anormal de los metacarpianosTrabeculación metafisaria anormalInvasión vascular anormal de la metáfisisOsificación anormal de los metatarsianosOsificación anormal que afecta a la cabeza femoral y el cuello femoralOsificación anormal de huesos de la manoOsificación anormal del hueso púbicoCrestas dérmicas palmares anormalesDermatoglifos palmares anormalesAnomalía de la osificación ósea de la pelvisOsificación torácica anormalSegmentación sacra anormalOsificación esternal anormalAnomalía de la densidad mineral de los huesos del tarsoOsificación anormal de los huesos del tarsoMorfología del tendón anormalMorfología anormal ósea trabecularOsificación vertebral anormalSegmentación y fusión vertebral anormalAnomalías de la corteza de los huesos de la manoAnomalías de las diáfisis de la manoAnomalías de las metáfisis de la manoAnomalía de las epífisis de las extremidadesAnomalía involucrando las epífisis de los miembros inferioresAnomalía de las epífisis de los miembros superioresAnomalía de la densidad mineral óseaAnomalía de osificación de los huesos carpianosAnomalía de los dedos de la manoAnomalía del patrón dorsoventral de las extremidadesAnomalía de las epífisis femoralesAnomalía de las epífisis de peronéAnomalía del dedo de la manoAnomalía de la movilidad articular de la manoAnomalía de la movilidad articularAnomalía de la morfología ósea de las extremidadesAnomalía de la morfología de los huesos largosAnomalía de metáfisis de miembros inferioresAnomalía de las epífisis de los metacarpianosAnomalía de la articulación metacarpofalángicaAnomalía de epífisis de los metatarsianosAnomalía de la morfología ósea de la cintura pélvicaAnomalía de las articulaciones de las falanges de la manoAnomalía de las falanges de los dedos de la manoAnomalía de la falange del segundo dedo del pieAnomalía de la diáfisis radialAnomalía de las epífisis radial

Anomalía de metáfisis radialAnomalía de la maduración esqueléticaAnomalía de la morfología esqueléticaAnomalía de la fisiología óseaAnomalía del primer metacarpianoAnomalía del segundo dedo de la manoAnomalía del segundo metacarpianoAnomalía del segundo dedo del pieAnomalía del tercero dedo de la manoAnomalía del tercer metacarpianoAnomalía del tercer dedo del pieAnomalía del cuarto dedo de la manoAnomalía del cuarto metacarpianoAnomalía del cuarto dedo del pieAnomalía del quinto dedo de la manoAnomalía del quinto metacarpianoAnomalía del quinto dedo del pieAnomalía del tendón de AquilesAnomalía del acetábuloAnomalía de los tobillosAnomalía del calcáneoAnomalía de la pantorrillaAnomalía de la musculatura de la pantorrillaAnomalía del hueso grandeAnomalía de los huesos del carpoAnomalía de la columna cervicalAnomalía de las clavículasAnomalía del coxisAnomalía de la corteza del húmeroAnomalía de la unión costocondralAnomalía de la curvatura de la columna vertebralAnomalía de la tuberosidad deltoidesAnomalía de la epífisis femoral distalAnomalía de la epífisis distal del peronéAnomalía de la epífisis distal del húmeroAnomalía de las falanges distales de los dedos de los piesAnomalía de la falange distal de dedos de la manoAnomalía de la falange distal del segundo dedo de la manoAnomalía de la falange distal del segundo dedo del pieAnomalía de la falange distal del tercer dedo de la manoAnomalía de la falange distal del tercer dedo del pieAnomalía de la falange distal del cuarto dedo de la manoAnomalía de la falange distal del cuarto dedo del pieAnomalía de la falange distal del quinto dedo de la manoAnomalía de la falange distal del quinto dedo del pieAnomalía de la falange distal del dedo gordo del pieAnomalía de la falange distal del pulgarAnomalía de la epífisis distal del radioAnomalía de la epífisis tibial distalAnomalía de la epífisis distal del cúbito

Anomalía del codoAnomalía de las metáfisis de codoAnomalía de la epífisisAnomalía de las epífisis del segundo dedo de la manoAnomalía de las epífisis del segundo dedo del pieAnomalía de la epífisis del tercer dedo de la manoAnomalía de la epífisis del tercer dedo del pieAnomalía de las epífisis del cuarto dedo de la manoAnomalía de las epífisis del cuarto dedo del pieAnomalía de las epífisis del quinto dedo de la manoAnomalía de las epífisis del quinto dedo del pieAnomalía de la epífisis de la falange distal de dedo de la manoAnomalía de las epífisis del codoAnomalía de las epífisis de los piesAnomalía de las epífisis del dedo gordo del pieAnomalía de la epífisis de la manoAnomalía de las epífisis de las falanges medias de la manoAnomalía de las epífisis de las falanges de la manoAnomalía de las epífisis de las falanges proximales de la manoAnomalía de las epífisis de los dedos de los piesAnomalía de la epífisis del primer metacarpianoAnomalía de la epífisis del primer metatarsianoAnomalía de la epífisis del segundo metacarpianoAnomalía de la epífisis del tercer metacarpianoAnomalía de la epífisis del cuarto metacarpianoAnomalía de la epífisis del quinto metacarpianoAnomalía de la epífisis de la falange distal del segundo dedo de la manoAnomalía de la epífisis de la falange distal del segundo dedo del pieAnomalía de la epífisis de la falange distal del tercer dedo de la manoAnomalía de la epífisis de la falange distal del tercer dedo del pieAnomalía de la epífisis de la falange distal del cuarto dedo de la manoAnomalía de la epífisis de la falange distal del cuarto dedo del pieAnomalía de la epífisis de la falange distal del quinto dedo de la manoAnomalía de la epífisis de la falange distal del quinto dedo del pieAnomalía de la epífisis de la falange distal del dedo gordo del pieAnomalía de la epífisis de la falange distal del pulgarAnomalía de la epífisis de la cabeza femoralAnomalía de la epífisis de la falange media del segundo dedo de la manoAnomalía de la epífisis de la falange media del segundo dedo del pieAnomalía de la epífisis de la falange media del tercer dedo de la manoAnomalía de la epífisis de la falange media del dedo tercero del pieAnomalía de la epífisis de la falange media del cuarto dedo de la manoAnomalía de la epífisis de la falange media del cuarto dedo del pieAnomalía de la epífisis de la falange media del quinto dedo de la manoAnomalía de la epífisis de la falange media del quinto dedo del pieAnomalía de la epífisis de la falange proximal del segundo dedo de la manoAnomalía de la epífisis de la falange proximal del segundo dedo del pieAnomalía de la epífisis de la falange proximal del tercer dedo de la manoAnomalía de la epífisis de la falange proximal del tercer dedo del pieAnomalía de la epífisis de la falange proximal del cuarto dedo de la mano

Anomalía de la epífisis de la falange proximal del cuarto dedo del pieAnomalía de la epífisis de la falange proximal del quinto dedo de la manoAnomalía de la epífisis de la falange proximal del quinto dedo del pieAnomalía de la epífisis de la falange proximal del dedo gordo del pieAnomalía de la epífisis de la falange proximal del pulgarAnomalía de la cabeza femoralAnomalía de la metáfisis femoralAnomalía del cuello femoralAnomalía de la región del cuello y la cabeza femoralAnomalía del fémurAnomalía del peronéAnomalía del quinto metatarsianoAnomalía de las yemas de los dedosAnomalía del primer metatarsianoAnomalía del pieAnomalía de la musculatura del pieAnomalía del antebrazoAnomalía de la fosa glenoideaAnomalía del hendidura sacrociática mayorAnomalía del dedo gordo del pieAnomalía del hueso ganchosoAnomalía de la manoAnomalía del hueso de la caderaAnomalía de la articulación de la caderaAnomalía de la diáfisis humeralAnomalía de la placa de las epífisis humeralAnomalía de la epífisis humeralAnomalía de las cabezas humeralesAnomalía de las metáfisis de húmeroAnomalía de la articulación humeroradialAnomalía de la articulación humerocubitalAnomalía del húmeroAnomalía de la eminencia hipotenarAnomalía del hueso ilíacoAnomalía del disco intervertebralAnomalía del isquionAnomalía de los espacios de las articulaciones del codoAnomalía de las articulaciones de los miembros inferioresAnomalía de las articulaciones de los miembros superioresAnomalía de las rodillasAnomalía de la extremidad inferiorAnomalía de la columna lumbarAnomalía del hueso semilunarAnomalía de la cavidad medular de los huesos largosAnomalía de los huesos metacarpianosAnomalía de las metáfisisAnomalía de los huesos metatarsianosAnomalía de las falanges medias de la manoAnomalía de las falanges medias de los dedos de los piesAnomalía de la falange media del segundo dedo de la mano

Anomalía de la falange media del segundo dedo del pieAnomalía de la falange media del tercer dedo de la manoAnomalía de la falange media del dedo tercero del pieAnomalía de la falange media del cuarto dedo de la manoAnomalía de la falange media del cuarto dedo del pieAnomalía de la falange media del quinto dedo de la manoAnomalía de la falange media del quinto dedo del pieAnomalía de la musculatura de la manoAnomalía de la musculatura de las extremidadesAnomalía de la musculatura de las extremidades inferioresAnomalía de la musculatura del musloAnomalía de la musculatura de la parte superior del brazoAnomalía de la musculatura de los miembros superioresAnomalía de la apófisis odontoidesAnomalía del olécranonAnomalía del hueso navicular pedisAnomalía de la palma de la manoAnomalía de los pliegues palmaresAnomalía de la rótulaAnomalía de las falanges del segundo dedo de la manoAnomalía de las falanges del tercer dedo de la manoAnomalía de las falanges del tercer dedo del pieAnomalía de las falanges del cuarto dedo de la manoAnomalía de las falanges del cuarto dedo del pieAnomalía de las falanges del quinto dedo de la manoAnomalía de las falanges del quinto dedo del pieAnomalía de las falanges del dedo gordo del pieAnomalía de las falanges de los dedos de los piesAnomalía de la epífisis proximal del peronéAnomalía de la epífisis proximal del húmeroAnomalía de las falanges proximales de la manoAnomalía de la falange proximal del segundo dedo de la manoAnomalía de la falange proximal del segundo dedo del pieAnomalía de la falange proximal del tercer dedo de la manoAnomalía de la falange proximal del tercer dedo del pieAnomalía de la falange proximal del cuarto dedo de la manoAnomalía de la falange proximal del cuarto dedo del pieAnomalía de la falange proximal del quinto dedo de la manoAnomalía de la falange proximal del quinto dedo del pieAnomalía de la falange proximal del dedo gordo del pieAnomalía de la falange proximal del pulgarAnomalía de la epífisis radial proximalAnomalía de la epífisis tibial proximalAnomalía de la epífisis cubital proximalAnomalía de los huesos del pubisAnomalía de la cabeza radialAnomalía de las articulaciones radiocubitalAnomalía del radioAnomalía de la caja torácicaAnomalía de las costillas

Anomalía de la articulación sacroilíacaAnomalía del sacroAnomalía del escafoidesAnomalía de la escápulaAnomalía del hombroAnomalía de la musculatura de la cintura escapularAnomalía del sistema esqueléticoAnomalía del esternónAnomalía de la apófisis estiloidesAnomalía del líquido sinovialAnomalía del astrágaloAnomalía de los huesos del tarsoAnomalía de la eminencia tenarAnomalía del tercer metatarsianoAnomalía de la columna torácicaAnomalía del tóraxAnomalía del pulgarAnomalía de la tibiaAnomalía de la metáfisis tibialAnomalía de la meseta tibialAnomalía del trapecioAnomalía del hueso trapezoideAnomalía del cúbitoAnomalía de las epífisis cubitalAnomalía de la parte superior del brazoAnomalía de la extremidad superiorAnomalía de las vértebrasAnomalía de la columna vertebralAnomalía de los platillos vertebralesAnomalía de las epífisis vertebralesAnomalía de las apófisis espinosas vertebralesAnomalía del ala del ilionAnomalía de la muñecaAnomalía del proceso xifoidesAnomalía de las epífisis del pulgarAnomalía de la falange del pulgarAnomalía de las epífisis tibialesAnomalía del dedo del pieAnomalía de falange proximal del dedo del pieAnomalía de metáfisis cubitalAnomalía de metáfisis del miembro superiorHuesos del carpo de forma anormalColumna anormalmente rectaAusencia del sacroAusencia de pliegues interfalángicos distalesFalanges distales ausentesFalange distal ausente del segundo dedo del pieFalange distal ausente de tercer dedo del piePliegues de la piel dorsal ausentes sobre articulaciones afectadasEpífisis ausentes

Epífisis ausentes del segundo dedo de la manoEpífisis ausentes del segundo dedo del pieEpífisis ausentes del tercer dedo de la manoEpífisis ausentes del tercer dedo del pieEpífisis ausentes del cuarto dedo de la manoEpífisis ausentes del cuarto dedo del pieEpífisis ausentes del quinto dedo de la manoEpífisis ausentes del quinto dedo del pieEpífisis ausentes de las falanges distales de la manoEpífisis ausentes de las falanges medias de la manoEpífisis ausentes de las falanges de la manoEpífisis ausentes de las falanges proximales de la manoEpífisis ausentes del pulgarEpífisis ausentes de los dedos del pieEpífisis ausentes del primer metacarpianoEpífisis ausente del primer metatarsianoEpífisis ausentes de la falange distal del segundo dedo de la manoEpífisis ausentes de la falange distal del segundo dedo del pieEpífisis ausentes de la falange distal del tercer dedo de la manoEpífisis ausentes de la falange distal del tercer dedo del pieEpífisis ausentes de la falange distal del cuarto dedo de la manoEpífisis ausentes de la falange distal del cuarto dedo del pieEpífisis ausentes de la falange distal del quinto dedo de la manoEpífisis ausentes de la falange distal del quinto dedo del pieEpífisis ausentes de la falange distal del dedo gordo del pieEpífisis ausentes de la falange distal del pulgarEpífisis ausentes de la falange media del segundo dedo de la manoEpífisis ausentes de la falange media del segundo dedo del pieEpífisis ausentes de la falange media del tercer dedo de la manoEpífisis ausentes de la falange media del tercer dedo del pieEpífisis ausentes de la falange media del cuarto dedo de la manoEpífisis ausentes de la falange media del cuarto dedo del pieEpífisis ausentes de la falange media del quinto dedo de la manoEpífisis ausentes de la falange media del quinto dedo del pieEpífisis ausentes de la falange proximal del segundo dedo de la manoEpífisis ausentes de la falange proximal del segundo dedo del pieEpífisis ausentes de la falange proximal del tercer dedo de la manoEpífisis ausentes de la falange proximal del tercer dedo del pieEpífisis ausentes de la falange proximal del cuarto dedo de la manoEpífisis ausentes de la falange proximal del cuarto dedo del pieEpífisis ausentes de la falange proximal del quinto dedo de la manoEpífisis ausentes de la falange proximal del quinto dedo del pieEpífisis ausentes de la falange proximal del dedo gordo del pieEpífisis ausentes de la falange proximal del pulgarQuinto metatarsiano ausentePrimer metatarsiano ausenteAusencia de pieAusencia de antebrazo Ausencia de huesos del antebrazoAusencia del pliegue distal interfalángico del cuarto dedo de la mano

Fosa glenoidea ausenteDedo gordo del pie ausenteAusencia de la epífisis del dedo gordo del pieAusencia de manoAusencia de osificación epifisaria humeralAusencia de húmeroAusencia intraútero de osificación de los cuerpos vertebralesAusencia intraútero de osificación de los huesos torácicosAusencia de epífisis de la rodilla Epífisis de metacarpianos ausentesAusencia de huesos metatarsianos Ausencia de la falange media del segundo dedo de la manoAusencia de la falange media del tercer dedo de la manoAusencia de la falange media del cuarto dedo de la manoAusencia de la falange media del quinto dedo de la manoAusencia de la falange media del tercer dedo del pieCuerpos vertebrales ausentes o mínimamente osificadosAusencia de osificación de la epífisis femoralAusencia de osificación de los cuerpos vertebrales cervicalesAusencia de osificación de los cuerpos vertebrales torácicosAusencia del pliegue palmarAusencia de pliegues interfalángicosAusencia de la capa esponjosa metafisariaAusencia de pliegues de flexión proximales de los dedos de la manoAusencia de las falanges proximales del tercer dedo del pieAusencia de la falange proximal del pulgarAusencia de la epífisis radial proximalAusencia de radioAusencia de escafoidesAusencia de apófisis espinosas de vértebras torácicas bajas y lumbaresAusencia de osificación esternalAusencia de pulgarAusencia de tibiaAusencia del dedo gordo del pieAusencia de osificación del hueso trapecioAusencia de hueso trapezoideAusencia de peronéAusencia de vértebrasAusencia de mineralización de los cuerpos vertebralesCoxis ausente o hipoplásicoEdad ósea acelerada después de la pubertadMaduración esquelética aceleradaHuesos del carpo accesoriosSemilunar accesorioEscafoides accesorioDisplasia acetabularEspículas acetabularesContracturas del tendón de AquilesUlceración acral y osteomielitis que lleva a autoamputación de dedos de la manoUlceración acral y osteomielitis que lleva a autoamputación de los dedos de los pies

Ulceración Acral que lleva a autoamputación de dígitosAcromeliaAcromelia de los miembros inferioresAcromelia de los miembros superioresAcromesomeliaAcroosteólisis (en pies)Acroosteólisis de las falanges distales (pies)AdactiliaPulgar en aducciónContracturas del músculo aductor largoOsificación avanzada de los huesos del carpoOsificación avanzada de los huesos de la manoOsificación avanzada de la epífisis humeralOsificación avanzada de los huesos del tarso AmeliaAmelia de miembros inferioresAmelia de miembros superioresBandas amnióticas en los brazosBandas amnióticas en las piernasAmiotrofia de la musculatura del hombroAmiotrofia de la musculatura del tobilloQuiste óseo aneurismáticoHuesos del antebrazo anguladosHúmero anguladoAnisospondylyContractura del tobilloHinchazón del tobilloAnquilosis de las pequeñas articulaciones de los piesInserción anómala de las costillas en las vértebrasAnomalía de la diáfisis de los miembros inferioresAnomalía de las diáfisis de las extremidadesAnomalía de las diáfisis de los miembros superioresPterigión antecubitalLuxación anterior atlanto-occipitalProtusiones anteriores en forma de lengüeta de las vértebras torácicas inferiores.Protusiones anteriores en forma de lengüeta de las vértebras lumbaresProtusiones anteriores en forma de lengüeta de las vértebras torácicasIncurvación anterior de los huesos largosFisura anterior de los cuerpos vertebralesConcavidad anterior de las vértebras torácicasLuxación anterior de la cabeza radialCostillas con extremos anteriores "en copa"Calcificaciones puntiformes anteriores en las costillasRedondeo anterior de los cuerpos vertebralesMeningocele sacro anteriorFestoneado anterior de los cuerpos vertebralesArqueamiento tibial anteriorFusión vertebral anteriorAcuñamiento anterior de T11Acuñamiento anterior de L1

Acuñamiento anterior de L2Acuñamiento anterior de T12Odontoides posicionado en forma anteriorDislocación anterolateral de la cabeza radialCalcificación del arco aórticoCalcificación de la válvula aórticaAfalangia de manos y piesAfalangia de las manosAplasia de los huesos de las extremidadesAplasia de los huesos de los miembros inferioresAplasia de los huesos de las extremidades superioresAplasia de los huesos del antebrazoAplasia de los huesos metacarpianosAplasia del primer metacarpianoAplasia del segundo dedo de la manoAplasia del segundo metacarpianoAplasia del tercer dedo de la manoAplasia del tercer metacarpianoAplasia del cuarto dedo de la manoAplasia del cuarto metacarpianoAplasia del quinto dedo de la manoAplasia del quinto metacarpianoAplasia de las falanges distales de la manoAplasia de las falanges distales de los dedos de los piesAplasia de la falange distal del segundo dedo de la manoAplasia de la falange distal del tercer dedo de la manoAplasia de la falange distal del cuarto dedo de la manoAplasia de la falange distal del cuarto dedo del pieAplasia de la falange distal del quinto dedo de la manoAplasia de la falange distal del quinto dedo del pieAplasia de la falange distal del dedo gordo del pieAplasia de la falange distal del pulgar de la manoAplasia de la cabeza femoralAplasia del cuello femoralAplasia de los dedos de la manoAplasia de las falanges medias de los dedos de los piesAplasia de la falange media del segundo dedo del pieAplasia de la falange media del cuarto dedo del pieAplasia de la falange media del quinto dedo del pieAplasia de las falanges medias de la manoAplasia del músculo pectoral mayorAplasia de las falanges del segundo dedo del pieAplasia de las falanges del tercer dedo del pieAplasia de las falanges del cuarto dedo del pieAplasia de las falanges del quinto dedo del pieAplasia de las falanges del dedo gordo del pieAplasia de las falanges de la manoAplasia de las falanges de los dedos de los piesAplasia de las falanges proximales de la manoAplasia de las falanges proximales de los dedos de los pies

Aplasia de la falange proximal del segundo dedo de la manoAplasia de la falange proximal del segundo dedo del pieAplasia de la falange proximal del tercer dedo de la manoAplasia de la falange proximal del cuarto dedo de la manoAplasia de la falange proximal del cuarto dedo del pieAplasia de la falange proximal del quinto dedo de la manoAplasia de la falange proximal del quinto dedo del pieAplasia de la falange proximal del dedo gordo del pieAplasia de los huesos del tarsoAplasia / hipoplasia de los huesos de los piesAplasia / hipoplasia de los huesos del tóraxAplasia / hipoplasia de los huesos del carpoAplasia / hipoplasia de la cabeza femoral y el cuello femoralAplasia / hipoplasia de a los huesos metacarpianosAplasia / hipoplasia de la musculatura de las extremidadesAplasia / hipoplasia de la musculatura de la parte superior del brazoAplasia / hipoplasia de la musculatura de los miembros superioresAplasia / hipoplasia de la pelvisAplasia / hipoplasia de la musculatura del hombroAplasia / hipoplasia de la columna vertebralAplasia / hipoplasia de los dedos de las manosAplasia / hipoplasia de huesos metatarsianosAplasia / hipoplasia del primer metacarpianoAplasia / hipoplasia del segundo dedo de la manoAplasia / hipoplasia del segundo metacarpianoAplasia / hipoplasia del segundo dedo del pieAplasia / hipoplasia del tercer dedo de la manoAplasia / hipoplasia del tercer metacarpianoAplasia / hipoplasia del tercer dedo del pieAplasia / hipoplasia del cuarto dedo de la manoAplasia / hipoplasia del cuarto metacarpianoAplasia / hipoplasia del cuarto dedo del pieAplasia / hipoplasia del quinto dedo de la manoAplasia / hipoplasia del quinto metacarpianoAplasia / hipoplasia del quinto dedo del pieAplasia / hipoplasia del bícepsAplasia / hipoplasia de la epífisis capital femoralAplasia / hipoplasia de la columna cervicalAplasia / hipoplasia de las clavículasAplasia / hipoplasia de las falanges distales de la manoAplasia / hipoplasia de las falanges distales de los dedos de los piesAplasia / hipoplasia de la falange distal del segundo dedo de la manoAplasia / hipoplasia de la falange distal del segundo dedo del pieAplasia / hipoplasia de la falange distal del tercer dedo de la manoAplasia / hipoplasia de la falange distal del tercer dedo del pieAplasia / hipoplasia de la falange distal del cuarto dedo de la manoAplasia / hipoplasia de la falange distal del cuarto dedo del pieAplasia / hipoplasia de la falange distal del quinto dedo de la manoAplasia / hipoplasia de la falange distal del quinto dedo del pieAplasia / hipoplasia de la falange distal del dedo gordo del pie

Aplasia / hipoplasia de la falange distal del pulgarAplasia / hipoplasia del peronéAplasia / hipoplasia del dedo gordo del pieAplasia / hipoplasia de las falanges medias de la manoAplasia / hipoplasia de las falanges medias de los dedos de los piesAplasia / hipoplasia de la falange media del segundo dedo de la manoAplasia / hipoplasia de la falange media del segundo dedo del pieAplasia / hipoplasia de la falange media del tercer dedo de la manoAplasia / hipoplasia de la falange media del tercer dedo del pieAplasia / hipoplasia de la falange media del cuarto dedo de la manoAplasia / hipoplasia de la falange media del cuarto dedo del pieAplasia / hipoplasia de la falange media del quinto dedo de la manoAplasia / hipoplasia de la falange media del quinto dedo del pieAplasia / hipoplasia de la musculatura del musloAplasia / hipoplasia de los pliegues palmaresAplasia / hipoplasia de la rótulaAplasia / hipoplasia de las falanges del segundo dedo de la manoAplasia / hipoplasia de las falanges del segundo dedo del pieAplasia / hipoplasia de las falanges del tercer dedo de la manoAplasia / hipoplasia de las falanges del tercer dedo del pieAplasia / hipoplasia de las falanges del cuarto dedo de la manoAplasia / hipoplasia de las falanges del cuarto dedo del pieAplasia / hipoplasia de las falanges del quinto dedo de la manoAplasia / hipoplasia de las falanges del quinto dedo del pieAplasia / hipoplasia de las falanges del dedo gordo del pieAplasia / hipoplasia de las falanges de la manoAplasia / hipoplasia de las falanges del pulgarAplasia / hipoplasia de las falanges de los dedos de los piesAplasia / hipoplasia de las falanges proximales de la manoAplasia / hipoplasia de la falange proximal del segundo dedo de la manoAplasia / hipoplasia de la falange proximal del tercer dedo de la manoAplasia / hipoplasia de la falange proximal del cuarto dedo de la manoAplasia / hipoplasia de la falange proximal del quinto dedo de la manoAplasia / hipoplasia de la falange proximal del dedo gordo del pieAplasia / hipoplasia de la falange proximal del pulgarAplasia / hipoplasia del hueso púbicoAplasia / hipoplasia de los cuádricepsAplasia / hipoplasia del radioAplasia / hipoplasia de las costillasAplasia / hipoplasia del sacroAplasia / hipoplasia de las escápulasAplasia / hipoplasia del esternónAplasia / hipoplasia de los huesos del tarsoAplasia / hipoplasia del pulgarAplasia / hipoplasia de la tibiaAplasia / hipoplasia del trícepsAplasia / hipoplasia del cúbitoAplasia / hipoplasia de las vértebrasAplasia / hipoplasia de los dedos del pieAplasia / hipoplasia que afectan a los huesos del esqueleto axial

Aplasia / hipoplasia de los huesos de la manoAplasia / hipoplasia de los huesos de los miembros inferioresAplasia / hipoplasia de los huesos de las extremidades superioresAplasia / hipoplasia de los huesos del antebrazoAplasia / hipoplasia que afecta el esqueletoAplasia / hipoplasia de la falange proximal del dedo del pieAplasia / hipoplasia del primer metatarsoAplasia / hipoplasia de las extremidadesAplasia / hipoplasia del fémurAplasia / hipoplasia del húmeroAplasia / hipoplasia de la falange proximal del segundo dedo del pieAplasia / hipoplasia de la falange proximal del tercer dedo del pieAplasia / hipoplasia de la falange proximal del cuarto dedo del pieAplasia / hipoplasia de la falange proximal del quinto dedo del pieAplasia de clavículaAplasia de huesos púbicosAracnodactiliaCalcificación arterialArtralgiaArtralgia de la caderaArtritisArtrogriposis múltiple congénitaAnomalía de la mano simil-artrogriposisArtropatíaNecrosis aséptica óseaAusencia de esternónDisplasia radial asimétricaAsimetría de las carillas articulares de la columna vertebralAsimetría del tóraxAnomalía atlantoaxialDislocación atlantoaxialInestabilidad atlantoaxialAutoamputaciónAutoamputación (pies)Autoamputación de dígitos de la manoNecrosis avascular de la epífisis capital femoralPterigión axilarDolor de espaldaPecho en forma de barrilCostillas en rosarioCuerpos vertebrales con lengüetas o picosCuerpos vertebrales T12-L3 con lengüetas o picosTórax en forma de campanaAplasia del bíceps del brazoVértebras achatadas bicóncavasCuerpos vertebrales bicóncavosCuerpos vertebrales biconvexosFalange distal bífida del pulgarFalange distal bífida del dedo del pieFémur bífido

Primer metacarpiano bífidoHúmero bífidoFalange proximal del pulgar bífidoCostillas bífidasSacro bífidoEsternón bífidoVértebras torácicas bífidasPulgar bífido en la falange distalXifoides bífidaCamptodactilia bilateralCoxa valga bilateralLuxaciones de codo bilateralPolidactilia postaxial bilateralAplasia radial bilateralPliegues palmares únicos bilateralesTalipes equinovaro bilateralPulgares trifalángicos bilateralesHipoplasia cubital bilateralContractura en flexión bilateral de la muñecaCalcáneo bipartitoRótula bipartitaFusión de vértebrasQuiste óseoDolor óseoApariencia de hueso en hueso en el antebrazoApariencia de hueso en hueso en los huesos del carpoEspículas óseas de la placa de las epífisis cubitalGanglio de BouchardHuesos del antebrazo arqueadosHúmero arqueado o curvadoArqueamiento de las extremidades debido a múltiples fracturasArqueamiento o incurvación del brazoArqueamiento o incurvación de las piernasArqueamiento o incurvación de los huesos largosSíndrome con braquidactiliaBraquitelomesofalangiaEpífisis en forma de corchetesEpífisis en forma de corchete del segundo dedo de la manoEpífisis en forma de corchete del segundo dedo del pieEpífisis en forma de corchete del tercer dedo de la manoEpífisis en forma de corchete del tercer dedo del pieEpífisis en forma de corchete del cuarto dedo de la manoEpífisis en forma de corchete del cuarto dedo del pieEpífisis en forma de corchete del quinto dedo de la manoEpífisis en forma de corchete del quinto dedo del pieEpífisis en forma de corchete de las falanges distales de la manoEpífisis en forma de corchete del dedo gordo del pieEpífisis en forma de corchete de las falanges medias de la manoEpífisis en forma de corchete de las falanges de la manoEpífisis en forma de corchete de las falanges proximales de la mano

Epífisis en froma de corchetes del pulgarEpífisis en forma de corchetes de los dedos de los piesEpífisis en forma de corchete del primer metacarpianoEpífisis en forma de corchete del primer metatarsianoEpífisis en forma de corchete de la falange distal del segundo dedo de la manoEpífisis en forma de corchete de la falange distal del segundo dedo del pieEpífisis en forma de corchete de la falange distal del tercer dedo de la manoEpífisis en forma de corchete de la falange distal del tercer dedo del pieEpífisis en forma de corchete de la falange distal del cuarto dedo de la manoEpífisis en forma de corchete de la falange distal del cuarto dedo del pieEpífisis en forma de corchete de la falange distal del quinto dedo de la manoEpífisis en forma de corchete de la falange distal del quinto dedo del pieEpífisis en forma de corchete de la falange distal del dedo gordo del pieEpífisis en forma de corchete de la falange distal del pulgarEpífisis en forma de corchete de la falange media del segundo dedo de la manoEpífisis en forma de corchete de la falange media del segundo dedo del pieEpífisis en forma de corchete de la falange media del tercer dedo de la manoEpífisis en forma de corchete de la falange media del tercer dedo del pieEpífisis en forma de corchete de la falange media del cuarto dedo de la manoEpífisis en forma de corchete de la falange media del cuarto dedo del pieEpífisis en forma de corchete de la falange media del quinto dedo de la manoEpífisis en forma de corchete de la falange media del quinto dedo del pieEpífisis en forma de corchete de la falange proximal del segundo dedo de la manoEpífisis en forma de corchete de la falange proximal del segundo dedo del pieEpífisis en forma de corchete de la falange proximal del tercer dedo de la manoEpífisis en forma de corchete de la falange proximal del tercer dedo del pieEpífisis en forma de corchete de la falange proximal del cuarto dedo de la manoEpífisis en forma de corchete de la falange proximal del cuarto dedo del pieEpífisis en forma de corchete de la falange proximal del quinto dedo de la manoEpífisis en forma de corchete de la falange proximal del quinto dedo del pieEpífisis en forma de corchete de la falange proximal del dedo gordo del pieEpífisis en forma de corchete de la falange proximal del pulgarEpífisis de metacarpianos en forma de corchetesPliegues palmares anómalos con uniones anormalesPrimer metacarpiano anchoSegundo dedo del pie anchoTercer dedo del pie anchoCuarto dedo del pie anchoQuinto dedo del pie anchoHuesos del carpo anchosClavículas anchasDiáfisis de las extremidades superiores anchasDedo gordo del pie ancho en su parte distalFalanges distales anchas de todos los dedosFalanges distales de los dedos de la mano anchasFalange distal ancha del segundo dedo de la manoFalange distal ancha del segundo dedo del pieFalange distal ancha del tercer dedo de la manoFalange distal ancha del tercer dedo del pieFalange distal ancha del cuarto dedo de la mano

Falange distal ancha del cuarto dedo del pieFalange distal ancha del quinto dedo de la manoFalange distal ancha del quinto dedo del pieFalange distal ancha del dedo gordo del pieFalange distal ancha del pulgarFalanges distales anchas de los dedos del pieCabeza femoral anchaMetáfisis femorales anchasCuello femoral anchoDedo anchoPulpejos de los dedos anchosPrimer metatarsiano anchoPies anchosHuesos del antebrazo anchosDedo gordo del pie anchoFalange del dedo gordo del pie anchaPlaca de crecimiento humeral anchaEpífisis humeral anchaIsquion anchoDiáfisis de huesos largos anchosHuesos largos anchosEpífisis metacarpianos anchasMetacarpianos anchosMetatarsos anchosFalanges medias anchas de los dedos de los piesFalanges medias anchas de los dedos de las manosFalange media ancha del segundo dedo de la manoFalange media ancha del segundo dedo del pieFalange media ancha del tercer dedo de la manoFalange media ancha del tercer dedo del pieFalange media ancha del cuarto dedo de la manoFalange media ancha del cuarto dedo del pieFalange media ancha del quinto dedo de la manoFalange media ancha del quinto dedo del piePalma de la mano anchaFalanges anchas del segundo dedo de la manoFalanges anchas del segundo dedo del pieFalanges anchas del tercer dedo de la manoFalanges anchas del tercer dedo del pieFalanges anchas del cuarto dedo de la manoFalanges anchas del cuarto dedo del pieFalanges anchas del quinto dedo de la manoFalanges anchas del quinto dedo del pieFalanges anchas de la manoFalange anchaFalanges anchas de los dedos del pieFalanges proximales anchas de la manoFalange proximal ancha del segundo dedo de la manoFalange proximal ancha del segundo dedo del pieFalange proximal ancha de la tercera dedo de la mano

Falange proximal ancha del tercer dedo del pieFalange proximal ancha del cuarto dedo de la manoFalange proximal ancha del cuarto dedo del pieFalange proximal ancha del quinto dedo de la manoFalange proximal ancha del quinto dedo del pieFalange proximal ancha del dedo gordo del pieFalange proximal ancha del pulgar Falange proximal ancha de los piesDiáfisis radial anchaPlaca de crecimiento radial anchaMetáfisis radial anchaRadio anchoCostillas anchasPulgar anchoMetáfisis tibial anchaDedo del pie anchoCúbito anchoXifoides anchoPulpejos de los dedos de los pies carnososEpífisis protuyentesProtrusión de la unión costocondralPrimer metacarpiano en forma de balaPrimer metatarsiano en forma de balaSegunda falange del dedo del pie en forma de balaTercera falange del dedo del pie en forma de balaCuarta falange del dedo del pie en forma de balaQuinta falange del dedo del pie en forma de balaFalanges distales de la mano en forma de balaFalange distal del segundo dedo de la mano en forma de balaFalange distal del segundo dedo del pie en forma de balaFalange distal del tercer dedo de la mano en forma de balaFalange distal del tercer dedo del pie en forma de balaFalange distal del cuarto dedo de la mano en forma de balaFalange distal del cuarto dedo del pie en forma de balaFalange distal del quinto dedo de la mano en forma de balaFalange distal del quinto dedo del pie en forma de balaFalange distal del dedo gordo del pie en forma de balaFalange distal del pulgar en forma de balaFalange distal del dedo del pie en forma de balaFalange del dedo gordo del pie en forma de balaFalanges medias de la mano en forma de balaFalange media del segundo dedo de la mano en forma de balaFalange media del segundo dedo del pie en forma de balaFalange media del tercer dedo de la mano en forma de balaFalange media del dedo tercero del pie en forma de balaFalange media del cuarto dedo de la mano en forma de balaFalange media del cuarto dedo del pie en forma de balaFalange media del quinto dedo de la mano en forma de balaFalange media del quinto dedo del pie en forma de balaFalanges medias de los dedos del pie en forma de bala

Falanges del segundo dedo de la mano en forma de balaFalanges del tercer dedo de la mano en forma de balaFalanges del cuarto dedo de la mano en forma de balaFalanges del quinto dedo de la mano en forma de balaFalanges en forma de bala de la manoFalanges proximales de la mano en forma de balaFalange proximal del segundo dedo del pie en forma de balaFalange proximal del segundo dedo de la mano en forma de balaFalange proximal del tercer dedo del pie en forma de balaFalange proximal del tercer dedo de la mano en forma de balaFalange proximal del cuarto dedo del pie en forma de balaFalange proximal del cuarto dedo de la mano en forma de balaFalange proximal del quinto dedo del pie en forma de balaFalange proximal del quinto dedo de la mano en forma de balaFalange proximal del dedo gordo del pie en forma de balaFalange proximal del pulgar en forma de balaFalanges proximales de los dedos del pie en forma de balaFalange del pulgar en forma de balaFalanges de los dedos del pie en forma de balaVértebras en mariposaArcos vertebrales en mariposaSubluxación C1-C2 Anomalía vertebral C1-C2 Subluxación C2-C3 Punteado de la epífisis del calcáneoFusión calcaneonavicularDeformidad en valgo del calcáneoEstenosis mitral calcificadaCalcificación punteadaCalcificación punteada del esqueleto cartilaginoso infantilCalcificación del cartílagoCalcificación de los músculosCalcificación de la aortaHipertrofia del músculo de la pantorrillaHipoplasia del músculo de la pantorrillaSeudohipertrofia músculo de la pantorrillaOsteosclerosis del cráneoCamptocormiaCamptodactiliaCamptodactilia de segundo a quinto dedos de la manoCamptodactilia del dedo de la manoCamptodactilia del dedo del pieFusión carpo-ganchosoCalcificación de la válvula cardíacaCalcificación cardiovascularAplasia de los huesos carpianosHipoplasia de los huesos carpianosMalsegmentation de huesos carpianosOsteólisis de los huesos carpianosSinostosis de los huesos carpianos

Sinostosis carpometacarpianaDestrucción del cartílagoApéndice caudalEstrechamiento de las distancias interpediculares caudalesCelosomiaMetacarpiano central en forma de Y Hipoplasia central de la vertebra Inestabilidad cervicalCifosis cervicalPlatispondilia cervicalCostillas cervicalesEstenosis cervical del canal espinalHipermovilidad de la columna cervicalInestabilidad de la columna cervicalEspondilosis cervicalSubluxación cervicalFusión de las vértebras cervicales (C5/C6)Agenesia vertebral cervicalCuerpos vertebrales cervicales con diámetro anteroposterior disminuidoDisplasia cervical vertebralHipoplasia de vértebras cervicalesFusión vertebral cervical (C2/C3)Falanges distales en forma de peón de ajedrezDolor de pechoEpífisis radial en forma de cono o Chevron-likeRadio en forma de cono o Chevron-likeSabañonesTalla baja con tronco corto de inicio infantilCondritisCondrocalcinosisCondrosarcomaCordomaOsteomielitis multifocal crónica recurrenteEsclerosis clavicularArco vertebral hendidoClinodactilia del quinto dedo de la manoFémur distal en forma de palo de golfFémur proximal en forma de palo de golfDedos hipocráticosDedos de la mano hipocráticosDedos del pie hipocráticosCoalescencia de los huesos del tarsoTrabéculas gruesas del húmeroCostillas en forma de perchaHuesos del carpo en forma de comasEscafoides en forma de comasEscoliosis compensatoriaDuplicación completa de la falange distal del pulgarDuplicación completa de la falange del dedo gordo del pieDuplicación completa de las falanges de la mano

Duplicación completa de la falange proximal del pulgarDuplicación completa del primer metatarsianoDuplicación completa de las falanges distales de la manoDuplicación completa de la falange distal del segundo dedo de la manoDuplicación completa de la falange distal del segundo dedo del pieDuplicación completa de la falange distal del tercer dedo de la manoDuplicación completa de la falange distal del tercer dedo del pieDuplicación completa de la falange distal del cuarto dedo de la manoDuplicación completa de la falange distal del cuarto dedo del pieDuplicación completa de la falange distal del quinto dedo de la manoDuplicación completa de la falange distal del quinto dedo del pieDuplicación completa de la falange distal del dedo gordo del pieDuplicación completa del primer metacarpianoDuplicación completa de las falanges medias de la manoDuplicación completa de la falange media del segundo dedo de la manoDuplicación completa de la falange media del segundo dedo del pieDuplicación completa de la falange media del tercer dedo de la manoDuplicación completa de la falange media del tercer dedo del pieDuplicación completa de la falange media del cuarto dedo de la manoDuplicación completa de la falange media del cuarto dedo del pieDuplicación completa de la falange media del quinto dedo de la manoDuplicación completa de la falange media del quinto dedo del pieDuplicación completa de las falanges del segundo dedo de la manoDuplicación completa de las falanges del segundo dedo del pieDuplicación completa de las falanges del tercer dedo de la manoDuplicación completa de las falanges del cuarto dedo de la manoDuplicación completa de las falanges del quinto dedo de la manoDuplicación completa de las falanges proximales de la manoDuplicación completa de la falange proximal del segundo dedo de la manoDuplicación completa de la falange proximal del segundo dedo del pieDuplicación completa de la falange proximal del tercer dedo de la manoDuplicación completa de la falange proximal del tercer dedo del pieDuplicación completa de la falange proximal del cuarto dedo de la manoDuplicación completa de la falange proximal del cuarto dedo del pieDuplicación completa de la falange proximal del quinto dedo de la manoDuplicación completa de la falange proximal del quinto dedo del pieDuplicación completa de la falange proximal del dedo gordo del pieDuplicación completa de la falange del pulgarPatrón dermatoglífico palmar complejoCabeza femoral con forma de conoEpífisis en forma de cono fusionadas dentro de sus metáfisisEpífisis en forma de cono de falanges 2-5 de la manoEpífisis en forma de cono del segundo dedo de la manoEpífisis en forma de cono del segundo dedo del pieEpífisis en forma de cono del tercer dedo de la manoEpífisis en forma de cono del tercer dedo del pieEpífisis en forma de cono del cuarto dedo de la manoEpífisis en forma de cono del cuarto dedo del pieEpífisis en forma de cono del quinto dedo de la manoEpífisis en forma de cono del quinto dedo del pie

Epífisis en forma de cono de las falanges distales de la manoEpífisis en forma de cono del dedo gordo del pieEpífisis en forma de cono de las falanges medias de la manoEpífisis en forma de cono de las falanges de la manoEpífisis en forma de cono de las falanges proximales de la manoEpífisis en forma de cono de los dedos de los piesEpífisis en forma de conoEpífisis en forma de cono del primer metacarpianoEpífisis en forma de cono del primer metatarsianoEpífisis en forma de cono de la falange distal del segundo dedo de la manoEpífisis en forma de cono de la falange distal del segundo dedo del pieEpífisis en forma de cono de la falange distal del tercer dedo de la manoEpífisis en forma de cono de la falange distal del tercer deddo del pieEpífisis en forma de cono de la falange distal del cuarto dedo de la manoEpífisis en forma de cono de la falange distal del cuarto dedo del pieEpífisis en forma de cono de la falange distal del quinto dedo de la manoEpífisis en forma de cono de la falange distal del quinto dedo del pieEpífisis en forma de cono de la falange distal del dedo gordo del pieEpífisis en forma de cono de la falange distal del pulgarEpífisis en forma de cono de la falange media del segundo dedo de la manoEpífisis en forma de cono de la falange media del segundo dedo del pieEpífisis en forma de cono de la falange media del tercer dedo de la manoEpífisis en forma de cono de la falange media del tercer dedo del pieEpífisis en forma de cono de la falange media del cuarto dedo de la manoEpífisis en forma de cono de la falange media del cuarto dedo del pieEpífisis en forma de cono de la falange media del quinto dedo de la manoEpífisis en forma de cono de la falange media del quinto dedo del pieEpífisis en forma de cono de la falange proximal del segundo dedo de la manoEpífisis en forma de cono de la falange proximal del segundo dedo del pieEpífisis en forma de cono de la falange proximal del tercer dedo de la manoEpífisis en forma de cono de la falange proximal del tercer dedo del pieEpífisis en forma de cono de la falange proximal del cuarto dedo de la manoEpífisis en forma de cono de la falange proximal del cuarto dedo del pieEpífisis en forma de cono de la falange proximal del quinto dedo de la manoEpífisis en forma de cono de la falange proximal del quinto dedo del pieEpífisis en forma de cono de la falange proximal del dedo gordo del pieEpífisis en forma de cono de la falange proximal del pulgarEpífisis en forma de cono del pulgarEpífisis de metacarpianos en forma de conoDislocación congénita de cadera bilateralContractura congénitaContracturas congénitas en flexión del dedo de la manoContracturas congénitas con deformidades del pieContracturas congénitas del pieLuxación congénita de caderaLuxación de rodilla congénitaCifoescoliosis congénitaMicrotorax congénitoQueratosis palmoplantar congénitaPseudoartrosis congénita de la clavícula

Queratosis palmoplantar congénita simétrica Pie equino calcaneovalgo congénito Alas ilíacas contraídasCuello radial contraídoRadio contraídoContractura de la articulación interfalángica distal del segundo dedo de la manoContractura de la articulación interfalángica distal del segundo dedo del pieContractura de la articulación interfalángica distal del tercer dedo de la manoContractura de la articulación interfalángica distal del tercer dedo del pieContractura de la articulación interfalángica distal del cuarto dedo de la manoContractura de la articulación interfalángica distal del cuarto dedo del pieContractura de la articulación interfalángica distal del quinto dedo de la manoContractura de las articulaciones interfalángicas distales de los dedos de la manoContractura de la articulación interfalángica del dedo gordo del pieContractura de la articulación metacarpofalángica del segundo dedo de la manoContractura de la articulación metacarpofalángica del tercer dedo de la manoContractura de la articulación metacarpofalángica del cuarto dedo de la manoContractura de la articulación metacarpofalángica del quinto dedo de la manoContractura de la articulación metatarsofalángica del segundo dedo del pieContractura de la articulación metatarsofalángica del tercer dedo del pieContractura de la articulación metatarsofalángica del cuarto dedo del pieContractura de la articulación metatarsofalángica del quinto dedo del pieContractura de la articulación interfalángica proximal del segundo dedo de la manoContractura de la articulación interfalángica proximal del segundo dedo del pieContractura de la articulación interfalángica proximal del tercer dedo de la manoContractura de la articulación interfalángica proximal del tercer dedo del pieContractura de la articulación interfalángica proximal del cuarto dedo de la manoContractura de la articulación interfalángica proximal del cuarto dedo del pieContractura de la articulación interfalángica proximal del quinto dedo de la manoContractura de la articulación tarsometatarsiana del dedo gordo del pieContracturas que afectan las articulaciones de los piesContracturas de la articulación carpometacarpiana del pulgarContracturas de la articulación interfalángica distal del quinto dedo del pieContracturas de la articulación interfalángica del dedo pulgarContracturas de las articulaciones de los miembros inferioresContracturas de las articulaciones de los miembros superioresContracturas de las grandes articulaciones Contracturas de la articulación metacarpofalángica del pulgarContracturas de la articulación metatarsofalángica del dedo gordo del pieContracturas de la articulación interfalángica proximal del quinto dedo del pieFragmentos de la extremidad de la metáfisis cubitalEspuelas de la esquina de la metáfisis humeralHendiduras coronales de las vértebrasCalcificación de la arteria coronariaIrregularidades de la cortical diafisaria de las extremidades superioresEngrosamiento de la cortical diafisaria de las extremidades superioresIrregularidad corticalIrregularidad cortical (húmero)Irregularidad cortical de la diáfisis humeralEsclerosis cortical

Resorción subperióstica cortical (metáfisis humeral)Engrosamiento cortical (húmero)Engrosamiento cortical de huesos de la manoEngrosamiento cortical de la diáfisis humeralEngrosamiento cortical de diáfisis de huesos largosEngrosamiento cortical de los huesos del antebrazoAdelgazamiento cortical (húmero)Adelgazamiento cortical de huesos de la manoHuesos tubulares largos con hiperdensidad de la corticalCalcificación del cartílago costalEsclerosis de la articulación costocondralDolor costocondralCoxa magnaCoxa valgaCoxa varaOsteosclerosis CraneofacialFusión cruzada de los huesos del antebrazoHuesos del carpo apiñadosHúmero arrugadoHuesos largos arrugadosCúbito valgoCuerpos vertebrales toracolumbares de forma cuboideaCuerpos vertebrales de forma cuboidesMetacarpianos cuboidalesMetáfisis en copa de huesos de la manoMetáfisis en copa de los miembros superioresMetáfisis radial en copaCostillas con extremos en copasMetáfisis cubital en copaPrimer metacarpiano curvadoPrimer metatarsiano curvadoSegunda falange del dedo del pie curvadaTercera falange del dedo del pie curvadaCuarta falange del dedo del pie curvadaQuinta falange del dedo del pie curvadaFalanges distales curvadas de la manoFalange distal curvada del segundo dedo de la manoFalange distal curvada del segundo dedo del pieFalange distal curvada del tercer dedo de la manoFalange distal curvada del tercer dedo del pieFalange distal curvada del cuarto dedo de la manoFalange distal curvada del cuarto dedo del pieFalange distal curvada del quinto dedo de la manoFalange distal curvada del quinto dedo del pieFalange distal curvada del dedo gordo del pieFalange distal curvada del pulgarFalange distal curvada del dedo del pieDedos de la mano curvadosFalange del dedo gordo del pie curvadaFalanges medias curvadas de la mano

Falange media curvada del segundo dedo de la manoFalange media curvada del segundo dedo del pieFalange media curvada del tercer dedo de la manoFalange media curvada del tercer dedo del pieFalange media curvada del cuarto dedo de la manoFalange media curvada del cuarto dedo del pieFalange media curvada del quinto dedo de la manoFalange media curvada del quinto dedo del pieFalange media curvada de dedo del pieOlécranon curvadoFalanges curvas del segundo dedo de la manoFalanges curvadas del tercer dedo de la manoFalanges curvadas del cuarto dedo de la manoFalanges curvadas del quinto dedo de la manoFalanges curvadas de la manoFalanges proximales curvas de la manoFalange proximal curvada del segundo dedo de la manoFalange proximal curvada del segundo dedo del pieFalange proximal curvada del tercer dedo de la manoFalange proximal curvada del tercer dedo del pieFalange proximal curvada del cuarto dedo de la manoFalange proximal curvada del cuarto dedo del pieFalange proximal curvada del quinto dedo de la manoFalange proximal curvada del quinto dedo del pieFalange proximal curvada del dedo gordo del pieFalange proximal curvada del pulgarFalange proximal curvada del dedo del pieFalange curvada del pulgarFalange curvada del dedo del pieSindactilia cutánea de dedo de la manoSindactilia cutáneaSindactilia cutánea entre los dedos 2 y 5 de la manoSindactilia cutánea de los dedos del pieAngiomatosis quística del huesoDisminución del diámetro anterioposterior de los cuerpos vertebrales lumbaresDisminución del ángulo carpiano de la muñecaDisminución de la flexión de la columna cervical debido a contracturas de los músculos cervicales posterioresDisminución de la movilidad de la columna cervical Disminución de la movilidad de los dedos de la manoDisminución de la abducción de la caderaDisminución de la movilidad de los dedos tercero a quinto de la manoDisminución del rango de movimiento en las articulaciones interfalángicasDisminución del número de centros de osificación esternalDisminución de pliegues palmaresPliegue palmar profundoOsificación deficiente de los huesos de la manoHuesos del antebrazo deformadosCabezas humerales deformadasHúmero deformadoRadio deformado

Caja torácica deformeHuesos del tarso deformadosEnfermedad articular degenerativaRetraso en la osificación del calcáneoRetraso en la osificación de la epífisis del codoRetraso en la osificación epifisariaRetraso en la osificación de la cabeza femoralRetraso en la osificación de la epífisis humeralRetraso en la osificación de los huesos del carpoRetraso en la osificación de las ramas púbicasRetraso en la osificación de los huesos de la manoRetraso en la osificación del escafoidesRetraso en la osificación del trapecioRetraso en la osificación del hueso trapezoideRetraso en la osificación de las epífisis vertebralRetraso en la osificación de la rótulaRetraso en la osificación de las epífisisRetraso en la osificación de las epífisis femoral proximalRetraso en la osificación del hueso púbicoMaduración esquelética retrasadaRetraso en la osificación del astrágaloRetraso en la osificación de los huesos del tarsoRetraso en la osificación de las epífisis de las extremidades superioresBandas metafisarias densasCrestas dermatoglíficas anormalesVariantes dermatoglíficasDesviación del dedo de la manoDesviación del segundo dedo de la manoDesviación del tercer dedo de la manoDesviación del cuarto dedo de la manoDesviación del quinto dedo de la manoDesviación de la mano o de los dedos de la manoDesviación de los dedos del pieDesviación/desplazamiento del segundo dedo del pieDesviación/desplazamiento del tercer dedo del pieDesviación /desplazamiento del cuarto dedo del pieDesviación/desplazamiento del quinto dedo del pieDesviación/desplazamiento del dedo gordo del pieDesviación /desplazamiento del pulgarEsclerosis cortical diafisariaDisplasia diafisariaEsclerosis diafisariaEsclerosis diáfisis de los miembros superioresEngrosamiento diafisarioHiperqueratosis palmoplantar difusaTenosinovitis del flexor digital de dedo de la manoCuerpos vertebrales en forma de discoDesorganización los huesos del carpoLuxación de la cabeza radialMuñeca dislocada

Dislocación de la cabeza femoralDislocación de los dedos del pieProtusión desproporcionada del cóndilo femoral medialTalla baja con tronco corto desproporcionado Acortamiento desproporcionado de la tibiaArtrogriposis distalIncurvación del fémur distalOsteólisis distal de la epífisis radialAcortamiento distal de las extremidadesSinfalangismo distal (interfalángicas distales)Sinfalangismo distal (pies)Sinfalangismo distal (manos)Entrechamiento distal del fémurEstrechamiento distal de los metatarsianosIncurvación tibial distalPunteado epífisario distal del cubitoHipoplasia cubital distalAmiotrofia distal de las extremidades superioresEnsanchamiento distal de los metacarpianosSinfalangismo distal/medio del segundo dedo de la manoSinfalangismo distal/medio del tercer dedo de la manoSinfalangismo distal/medio del cuarto dedo de la manoSinfalangismo distal/medio del quinto dedo de la manoEmplazamiento distal del pulgar Subluxación dorsal del cúbitoDuplicación del primer metacarpianoHombros con inclinación hacia abajo o caidosFalanges terminales en palillo de tamborFémur en forma de mancuernasHúmero en forma de mancuernasHuesos largos en forma de mancuernasMetáfisis en forma de mancuernasDuplicación que afecta los huesos de los piesDuplicación que afecta los huesos de las extremidades superioresDuplicación de la falange distal de algún dedo del pieDuplicación de huesos de la manoDuplicación de los huesos metatarsianosDuplicación de falange media del dedo del pieDuplicación de falange de segundo dedo de la manoDuplicación de falange del tercer dedo de la manoDuplicación de falange de cuarto dedo de la manoDuplicación de falange de quinto dedo de la manoDuplicación de falange del dedo gordo del pieDuplicación de la falange de la manoDuplicación de la falange del tercer dedo del pieDuplicación de la falange del cuarto dedo del pieDuplicación de la falange de los dedos del pieDuplicación de la falange proximal de dedo del pieDuplicación del primer metacarpianoDuplicación del primer metatarsiano

Duplicación de la falange distal de la manoDuplicación de la falange distal del segundo dedo de la manoDuplicación de la falange distal del segundo dedo del pieDuplicación de la falange distal del tercer dedo de la manoDuplicación de la falange distal del tercer dedo del pieDuplicación de la falange distal del cuarto dedo de la manoDuplicación de la falange distal del cuarto dedo del pieDuplicación de la falange distal del quinto dedo de la manoDuplicación de la falange distal del quinto dedo del pieDuplicación de la falange distal del dedo gordo del pieDuplicación de la falange distal del pulgarDuplicación de la falange media de la manoDuplicación de la falange media del segundo dedo de la manoDuplicación de la falange media del segundo dedo del pieDuplicación de la falange media del tercer dedo de la manoDuplicación de la falange media del tercer dedo del pieDuplicación de la falange media del cuarto dedo de la manoDuplicación de la falange media del cuarto dedo del pieDuplicación de la falange media del quinto dedo de la manoDuplicación de la falange media del quinto dedo del pieDuplicación de las falanges del segundo dedo del pieDuplicación de las falanges del quinto dedo del pieDuplicación de la falange proximal de la manoDuplicación de la falange proximal del segundo dedo de la manoDuplicación de la falange proximal del segundo dedo del pieDuplicación de la falange proximal del tercer dedo de la manoDuplicación de la falange proximal del tercer dedo del pieDuplicación de la falange proximal del cuarto dedo de la manoDuplicación de la falange proximal del cuarto dedo del pieDuplicación de la falange proximal del quinto dedo de la manoDuplicación de la falange proximal del quinto dedo del pieDuplicación de la falange proximal del dedo gordo del pieDuplicación de la falange proximal del pulgarDuplicación de falange del pulgarContractura de DupuytrenEdad ósea acelerada disarmónica (no coincidente entre huesos)Edad ósea disarmónicaEdad ósea retrasada disarmónicaMaduración de los huesos de la mano disarmónicaDisostosis múltipleDisplasia de segunda vértebra lumbarDisplasia de la cabeza femoralEpífisis distal del radio displásicosFalanges distales del pulgar displásicas con un orificio centralAlas ilíacas displásicasRótula displásicaRadios displásicosSacro displásicoOsificación precoz de la epífisis capital femoralEnfermedad valvular cardíaca progresiva con calcificación temprana

Primera articulación metacarpofalángica fácilmente luxableApéndice accesorio con forma de dedo de la manoApéndice accesorio con forma de dedo del pieCalcificación ectópicaOsificación ectópicaOsificación ectópica en ligamentosOsificación ectópica en el tejido muscularOsificación ectópica en el tejido del tendónMucosa respiratoria ectópicaEctrodactiliaAnquilosis del codoDislocación del codoContractura en flexión de codoRadio alargadoEpífisis agrandadasEpífisis agrandadas del segundo dedo de la manoEpífisis agrandadas del segundo dedo del pieEpífisis agrandada del tercer dedo de la manoEpífisis agrandada de la tercer dedo del pieEpífisis agrandadas del cuarto dedo de la manoEpífisis agrandadas del cuarto dedo del pieEpífisis agrandadas del quinto dedo de la manoEpífisis agrandadas del quinto dedo del pieEpífisis agrandada de las falanges distales de la manoEpífisis agrandadas del dedo gordo del pieEpífisis agrandada de las falanges medias de la manoEpífisis agrandada de las falanges de la manoEpífisis agrandada de las falanges proximales de la manoEpífisis agrandada de los dedos de los piesEpífisis agrandada del primer metacarpianoEpífisis agrandada del primer metatarsianoEpífisis agrandada de la falange distal del segundo dedo de la manoEpífisis agrandada de la falange distal del segundo dedo del pieEpífisis agrandada de la falange distal del tercer dedo de la manoEpífisis agrandada de la falange distal del tercer dedo del pieEpífisis agrandada de la falange distal del cuarto dedo de la manoEpífisis agrandada de la falange distal del cuarto dedo del pieEpífisis agrandada de la falange distal del quinto dedo de la manoEpífisis agrandada de la falange distal del quinto dedo del pieEpífisis agrandada de la falange distal del dedo gordo del pieEpífisis agrandada de la falange distal del pulgarEpífisis agrandada de la falange media del segundo dedo de la manoEpífisis agrandada de la falange media del segundo dedo del pieEpífisis agrandada de la falange media del tercer dedo de la manoEpífisis agrandada de la falange media del tercer dedo del pieEpífisis agrandada de la falange media del cuarto dedo de la manoEpífisis agrandada de la falange media del cuarto dedo del pieEpífisis agrandada de la falange media del quinto dedo de la manoEpífisis agrandada de la falange media del quinto dedo del pieEpífisis agrandada de la falange proximal del segundo dedo de la mano

Epífisis agrandada de la falange proximal del segundo dedo del pieEpífisis agrandada de la falange proximal del tercer dedo de la manoEpífisis agrandada de la falange proximal del tercer dedo del pieEpífisis agrandada de la falange proximal del cuarto dedo de la manoEpífisis agrandada de la falange proximal del cuarto dedo del pieEpífisis agrandada de la falange proximal del quinto dedo de la manoEpífisis agrandada de la falange proximal del quinto dedo del pieEpífisis agrandada de la falange proximal del dedo gordoEpífisis agrandada de la falange proximal del pulgarMetáfisis humeral agrandadaArticulaciones interfalángicas agrandadasArticulaciones agrandadasEpífisis de los metacarpianos agrandadasArticulaciones metacarpofalángicas agrandadasMetáfisis agrandadosArticulaciones interfalángicas proximales agrandadasAumento del diámetro sagital del canal cervicalTórax aumentado de tamaño o grandeEpífisis de pulgar agrandadaPedículos vertebrales agrandadosAgrandamiento de los tobillosAgrandamiento de la unión costocondralAgrandamiento de la epífisis femoral distalAgrandamiento de la epífisis femoral proximalAgrandamiento de las muñecasDeformidades de las epífisis de los huesos tubularesDisplasia epifisariaPunteado epifisiarioPunteado epifisiario de las falanges de los dedosPunteado epifisiario del primer metacarpianoPunteado epifisiario del húmeroPunteado epifisiario de los metacarpianosPunteado epifisiario de las falanges del dedo del pieLíneas epifisiariasDeformidad en equinovaroCalcáneo en equinovaroDeformidad de los fémures en matraz de ErlenmeyerAnteversión exagerada del fémurExostosisExostosis de húmeroExostosis de huesos de la manoExostosis de los huesos del antebrazoExostosis de la metáfisis radialExostosis del radioExostosis del cúbitoMetacarpianos agrandados con cavidades medulares ensanchadasMetatarsianos agrandados con cavidades medulares ensanchadasFalanges agrandadas con cavidades medulares ensanchadasCaderas en rotación externaRotación externa / piernas en abducción

Aplasia del fémurIncurvamiento del fémurIncurvación del fémur al nacer que mejora con el tiempoDisplasia fibrosa de los huesosAplasia del peronéIncurvación del peronéDesviación externa o fibular del segundo dedo del pieDesviación externa o fibular del tercer dedo del pieDesviación externa o fibular del cuarto dedo del pieDesviación externa o fibular del quinto dedo del pieDesviación externa o fibular de los dedos del pieDuplicación del peronéHipoplasia del peronéCrecimiento excesivo del peronéClinodactilia de la falange distal del quinto dedo de la manoQuinto metacarpiano con escotadura cubitalClinodactilia del quinto dedo del pieHiperextensibilidad de la articulación de dedo de la manoHiperlaxitud articular de dedo de la manoSindactilia de dedo de la manoCodo fijo en flexiónMetáfisis femoral en forma de campanaMetáfisis humeral en forma de campanaAlas ilíacas en forma de campanaMetáfisis irregulares en forma de campanaMetáfisis en forma de campanaMetáfisis del codo en forma de campanaMetáfisis ensanchadas de los miembros superioresMetáfisis radial en forma de campanaExtremos de las costillas irregulares en forma de campanaTórax inferior en forma de campanaTórax en forma de campanaTecho acetabular planoEpífisis de la cabeza femoral achatadaEpífisis femoral distal planaFosa glenoidea planaEpífisis aplanadasCabeza femoral aplanadaEpífisis humeral aplanadasCabezas humerales aplanadasEpífisis de la rodilla aplanadasCabezas de los metacarpianos aplanadasCabezas de los metatarsianos aplanadasVértebras moderadamente deformadas y aplanadasEpífisis radial proximal aplanadasEpífisis radial aplanadasCabeza del radio aplanadaEpífisis aplanadas de los huesos tubularesAplanamiento de la cúpula del astrágaloContractura en flexión

Contractura en flexión del tercer dedo del pieContractura en flexión de los dedos de la manoContractura en flexión del segundo dedo de la manoContractura en flexión del segundo dedo del pieContractura en flexión del cuarto dedo del pieContractura en flexión del quinto dedo del pieContractura en flexión del dedo gordo del pieContractura en flexión del pulgarContractura en flexión de los dedos del pieLimitación de flexión de los dedos del pieHiperqueratosis palmoplantar por fricciónAsimetría del pieDebilidad en dorsiflexión del piePolidactilia de pieDefectos por reducción del antebrazoHipocrecimiento del antebrazoClinodactilia del cuarto dedo del pieHuesos del antebrazo fracturadosHuesos de la mano fracturadosFractura de radioFractura de cúbitoFracturas de los huesos largosFragmentación de las epífisis del segundo dedo de la manoFragmentación de las epífisis del segundo dedo del pieFragmentación de la epífisis del tercer dedo de la manoFragmentación de las epífisis del tercer dedo del pieFragmentación de las epífisis del cuarto dedo de la manoFragmentación de las epífisis del cuarto dedo del pieFragmentación de las epífisis del quinto dedo de la manoFragmentación de las epífisis del quinto dedo del pieFragmentación de las epífisis de las falanges distales de la manoFragmentación de las epífisis del dedo gordo del pieFragmentación de las epífisis de las falanges medias de la manoFragmentación de las epífisis de las falanges de la manoFragmentación de las epífisis de las falanges proximales de la manoFragmentación de las epífisis de los dedos de los piesFragmentación de la epífisis del primer metacarpianoFragmentación de la epífisis del primer metatarsianoFragmentación de la epífisis de la falange distal del segundo dedo de la manoFragmentación de la epífisis de la falange distal del segundo dedo del pieFragmentación de la epífisis de la falange distal del tercer dedo de la manoFragmentación de la epífisis de la falange distal del tercer dedo del pieFragmentación de la epífisis de la falange distal del cuarto dedo de la manoFragmentación de la epífisis de la falange distal del cuarto dedo del pieFragmentación de la epífisis de la falange distal del quinto dedo de la manoFragmentación de la epífisis de la falange distal del quinto dedo del pieFragmentación de la epífisis de la falange distal del dedo gordo del pieFragmentación de la epífisis de la falange distal del pulgarFragmentación de la epífisis de la falange media del segundo dedo de la manoFragmentación de la epífisis de la falange media del segundo dedo del pie

Fragmentación de la epífisis de la falange media del tercer dedo de la manoFragmentación de la epífisis de la falange media del tercer dedo del pieFragmentación de la epífisis de la falange media del cuarto dedo de la manoFragmentación de la epífisis de la falange media del cuarto dedo del pieFragmentación de la epífisis de la falange media del quinto dedo de la manoFragmentación de la epífisis de la falange media del quinto dedo del pieFragmentación de la epífisis de la falange proximal del segundo dedo de la manoFragmentación de la epífisis de la falange proximal del segundo dedo del pieFragmentación de la epífisis de la falange proximal del tercer dedo de la manoFragmentación de la epífisis de la falange proximal del tercer dedo del pieFragmentación de la epífisis de la falange proximal del cuarto dedo de la manoFragmentación de la epífisis de la falange proximal del cuarto dedo del pieFragmentación de la epífisis de la falange proximal del quinto dedo de la manoFragmentación de la epífisis de la falange proximal del quinto dedo del pieFragmentación de la epífisis de la falange proximal del dedo gordo del pieFragmentación de la epífisis de la falange proximal del pulgarFragmentación de las epífisis de metacarpianosFragmentación de la epífisis del pulgarEpífisis fragmentadasEpífisis fragmentados de los miembros superioresEpífisis irregulares y fragmentadasMetáfisis humeral deshilachadaVértebras cervicales fusionadasMetacarpianos cuarto y quinto fusionadosFusión de los centros de osificación esternalesFusión de articulaciones medias de las falangesCalcificación arterial generalizadaDesmineralización ósea generalizadaLaxitud articular generalizadaRigidez matutina generalizadaOsteoporosis generalizada con fracturas patológicasOsteosclerosis generalizadaDebilidad generalizada de los músculos de las extremidadesGenu recurvatumGenu valgoGenu varoTumor de células gigantes del huesoHipoplasia de la fosa glenoideaGotaGota en lo piesDiáfisis humerales con opacidades en vidrio esmeriladoPelvis en forma de alabardaDedo gordo del pie valgusDedo gordo del pie varusDedo del pie en martilloContracturas de los músculos isquiotibialesMano en garraAtrofia muscular de la manoPolidactilia de la manoGanglio de Heberden

Hemiatrofia de miembrosHemiatrofia de miembro inferiorHemiatrofia de miembro superiorHemihipertrofiaHemihipertrofia de miembro inferiorHemihipertrofia de miembro superiorHemihipotrofia de miembro inferiorHemisacro (S2-S5)HemivértebraCalcificación hepáticaHerniación de núcleos intervertebralesTrirradio axial altoAlas ilíacas altasContractura de caderaDislocación de caderaDisplasia de caderaOsteoartritis de caderaPulgar en autostopClavículas en forma de ganchoCostillas horizontalesSacro horizontalEsclerosis humeralSinostosis humeroradialSinostosis humerocubitalHúmero varoPlacas terminales del cuerpo vertebral hiperconvexasHiperextensibilidad en el codoHiperextensibilidad en las muñecasHiperextensibilidad de las articulaciones de los dedos de la manoHiperextensibilidad de la rodillaArticulaciones de la mano hiperextensiblesPulgar hiperextensibleHiperlordosisHipermovilidad de las articulaciones interfalángicas distales de la manoHipermovilidad de las articulaciones interfalángicasHipermovilidad de las articulaciones de los piesHiperostosisHiperplasia de los trocánter femoralesHipersegmentación de la falange proximal del segundo dedo de la manoHipersegmentación de la falange proximal del tercer dedo de la manoHipertrofia de la extremidad inferiorHipertrofia de la extremidad superiorRaquitismo hipofosfatémicoHipoplasia del músculo deltoidesHipoplasia de la primera costillaHipoplasia del peroné proximalHipoplasia del radio proximalHipoplasia del calcáneoHipoplasia de la epífisis capital femoralHipoplasia de la cabeza femoral

Hipoplasia del trocánter menorHipoplasia de la apófisis odontoidesHipoplasia de las falanges de los dedos de los piesHipoplasia del radioHipoplasia del cúbitoHipoplasia de la quinta vértebra lumbarHipoplasia acetabularBíceps hipoplásicosVértebras cervicales hipoplásicasVértebras coccígeas hipoplásicasHipoplasia del húmero distal Epífisis distal del radio hipoplásicosHipoplasia de los segmentos distales de la escápulaHipoplasia de ilíacosHipoplasia del cuerpo del ilíacoHipoplasia de las alas ilíacasHipoplasia de la región inferior del íliacoHipoplasia de las ramas púbicas inferioresHipoplasia de isquionRamas isquiopubianas hipoplásicasPelvis hipoplásicaHuesos púbicos hipoplásicosRamas púbicas hipoplásicasCabeza del radio hipoplásicoVértebras sacras hipoplásicasSacro hipoplásicoEscápulas hipoplásicasProcesos espinales hipoplásicosCuerpos vertebrales hipoplásicosHipotrofia de los pequeños músculos de la manoCresta ilíaca con indentacionesCuernos ilíacosAumento de diámetro anterioposterior de tóraxAumento de la altura vertebral anteriorAumento de la longitud del brazoAumento de la densidad ósea con cambios quísticosAumento de la densidad mineral óseaÁngulo cubital aumentadoAumento de la densidad de diáfisis de huesos largosAumento de la densidad de los huesos largosAumento de verticilos dermatoglíficosAumento de diámetro del peronéAumento de la laxitud de los tobillosAumento de la laxitud de los dedos de la manoAumento de la longitud de la tibiaAumento de la susceptibilidad a las fracturasAumento de la altura vertebralBucle radial dermatoglífico en dedo índiceTalla baja con tronco corto de aparición en la infanciaPterigión intercrural

Hombros con rotación internaContractura de la articulación interfalángica de dedo de la manoErosiones articulares interfalángicasDegeneración del disco intervertebralCalcificación de disco intervertebralEstrechamiento del espacio intervertebralCalcificaciones nodulares intraalveolarAtrofia muscular intrínseca de la manoTecho acetabular irregularSuperficies articulares irregulares de la articulación del codoEpífisis femoral irregularHuesos del carpo irregularesUniones condrocostales irregularesEpífisis femoral distal irregularEpífisis irregularesEpífisis irregulares del segundo dedo de la manoEpífisis irregulares del segundo dedo del pieEpífisis irregulares del tercer dedo de la manoEpífisis irregulares del tercer dedo del pieEpífisis irregulares del cuarto dedo de la manoEpífisis irregulares del cuarto dedo del pieEpífisis irregulares del quinto dedo de la manoEpífisis irregulares del quinto dedo del pieEpífisis irregulares de las falanges distales de la manoEpífisis irregulares del codoEpífisis irregulares del dedo gordo del pieEpífisis irregulares de los metacarpianosEpífisis irregulares de las falanges medias de la manoEpífisis irregulares de las falanges de la manoEpífisis irregulares de las falanges proximales de la manoEpífisis irregulares de los dedos de los piesEpífisis irregulares de los miembros superioresEpífisis irregular del primer metacarpianoEpífisis irregular del primer metatarsianoEpífisis irregular de la falange distal del segundo dedo de la manoEpífisis irregular de la falange distal del segundo dedo del pieEpífisis irregular de la falange distal del tercer dedo de la manoEpífisis irregular de la falange distal del tercer dedo del pieEpífisis irregular de la falange distal del cuarto dedo de la manoEpífisis irregular de la falange distal del cuarto dedo del pieEpífisis irregular de la falange distal del quinto dedo de la manoEpífisis irregular de la falange distal del quinto dedo del pieEpífisis irregular de la falange distal del dedo gordo del pieEpífisis irregular de la falange distal del pulgarEpífisis irregular de la falange media del segundo dedo de la manoEpífisis irregular de la falange media del segundo dedo del pieEpífisis irregular de la falange media del tercer dedo de la manoEpífisis irregular de la falange media del tercer dedo del pieEpífisis irregular de la falange media del cuarto dedo de la manoEpífisis irregular de la falange media del cuarto dedo del pie

Epífisis irregular de la falange media del quinto dedo de la manoEpífisis irregular de la falange media del quinto dedo del pieEpífisis irregular de la falange proximal del segundo dedo de la manoEpífisis irregular de la falange proximal del segundo dedo del pieEpífisis irregular de la falange proximal del tercer dedo de la manoEpífisis irregular de la falange proximal del tercer dedo del pieEpífisis irregular de la falange proximal del cuarto dedo de la manoEpífisis irregular de la falange proximal del cuarto dedo del pieEpífisis irregular de la falange proximal del quinto dedo de la manoEpífisis irregular de la falange proximal del quinto dedo del pieEpífisis irregular de la falange proximal del dedo gordo del pieEpífisis irregular de la falange proximal del pulgarEpífisis femoral irregularesEpífisis humeral irregularesMetáfisis humeral irregularesCresta ilíaca IrregularMetacarpianos irregularesMetáfisis irregulares del codoMetáfisis irregulares de los miembros superioresOlécranon irregularOsificación irregular en los extremos anteriores de las costillasOsificación irregular de los huesos de la manoOsificación irregular de metáfisis de húmeroOsificación irregular de las epífisis humeralOsificación irregular de la metáfisis radialRótula irregularFalanges irregularesMetáfisis femorales proximales irregularesEpífisis irregulares tibiales proximalesEpífisis radiales irregularesMetáfisis radial IrregularEsclerosis irregular de los huesos de la manoPlacas terminales escleróticas irregularesHuesos del tarso irregularesOsificación tarsal iIrregularEpífisis del pulgar irregularesMetáfisis cubital IrregularPlacas terminales vertebrales irregularesMetáfisis irregulares similares al raquitismoIrregularidad de los cuerpos vertebralesEpífisis de marfilEpífisis de marfil del segundo dedo de la manoEpífisis de marfil del segundo dedo del pieEpífisis de marfil del tercer dedo de la manoEpífisis de marfil del tercer dedo del pieEpífisis de marfil del cuarto dedo de la manoEpífisis de marfil del cuarto dedo del pieEpífisis de marfil del quinto dedo de la manoEpífisis de marfil del quinto dedo del pieEpífisis de marfil de las falanges distales de la mano

Epífisis de marfil del dedo gordo del pieEpífisis de marfil de los metacarpianosEpífisis de marfil de las falanges medias de la manoEpífisis de marfil de las falanges de la manoEpífisis de marfil de las falanges proximales de la manoEpífisis de marfil de los dedos de los piesEpífisis de marfil del primer metacarpianoEpífisis de marfil del primer metatarpianoEpífisis de marfil de la falange distal del segundo dedo de la manoEpífisis de marfil de la falange distal del segundo dedo del pieEpífisis de marfil de la falange distal del tercer dedo de la manoEpífisis de marfil de la falange distal del tercer dedo del pieEpífisis de marfil de la falange distal del cuarto dedo de la manoEpífisis de marfil de la falange distal del cuarto dedo del pieEpífisis de marfil de la falange distal del quinto dedo de la manoEpífisis de marfil de la falange distal del quinto dedo del pieEpífisis de marfil de la falange distal del dedo gordo del pieEpífisis de marfil de la falange distal del pulgarEpífisis de marfil de la falange media del segundo dedo de la manoEpífisis de marfil de la falange media del segundo dedo del pieEpífisis de marfil de la falange media del tercer dedo de la manoEpífisis de marfil de la falange media del tercer dedo del pieEpífisis de marfil de la falange media del cuarto dedo de la manoEpífisis de marfil de la falange media del cuarto dedo del pieEpífisis de marfil de la falange media del quinto dedo de la manoEpífisis de marfil de la falange media del quinto dedo del pieEpífisis de marfil de la falange proximal del segundo dedo de la manoEpífisis de marfil de la falange proximal del segundo dedo del pieEpífisis de marfil de la falange proximal del tercer dedo de la manoEpífisis de marfil de la falange proximal del tercer dedo del pieEpífisis de marfil de la falange proximal del cuarto dedo de la manoEpífisis de marfil de la falange proximal del cuarto dedo del pieEpífisis de marfil de la falange proximal del quinto dedo de la manoEpífisis de marfil de la falange proximal del quinto dedo del pieEpífisis de marfil de la falange proximal del dedo gordo del pieEpífisis de marfil de la falange proximal del pulgarEpífisis de marfil del pulgarContractura de la articulación del tercer dedo de la manoContractura de la articulación del cuarto dedo de la manoContractura de la articulación del quinto dedo de la manoContracturas en las articulaciones de la manoContracturas en las articulaciones que involucran las articulaciones de los piesLuxación articularDislocaciones articulares en adultos jóvenesHemorragia articular o hemartrosisHiperflexibilidad articularHiperlaxitud articularLaxitud articularRigidez articularInflamación articular

Inflamación articular inicio en la infancia tardíaNecrosis aséptica juvenilArtritis reumatoide juvenilDislocación de rodillaContractura en flexión de la rodillaOsteoartritis de rodillaCifoescoliosisCifosisCalcificación de grandes arteriasHueso grande agrandadoHuesos del carpo agrandadosHueso ganchoso grandeManos grandesEpífisis humeral grandesAlas ilíacas grandesLuxación de grandes articulacionesPelvis grandeEpífisis radial grandesCentros de osificación esternal grandesHuesos del tarso grandesCalcificación de laringeDesplazamiento lateral de la rótulaDesplazamiento lateral de la cabeza femoralInclinación lateral del fémurAplasia del cóndilo lateral del húmeroMesetas tibiales con defectos lateralesMesetas tibiales con inclinaciones lateralesTalla baja con tronco corto letalDisplasia esquelética letalLaxitud ligamentosaDuplicación de miembroContractura articular en los miembrosDolor en las extremidadesHipocrecimiento de miembroLimitación de la movilidad de las articulacionesLimitación de la movilidad de la rodillaLimitación de movimiento en los tobillosLimitación en la extensión del codoLimitación en la extensión y supinación del codoLimitación en la flexión del codoLimitación en el movimiento del codoLimitación en la extensión de la caderaLimitación del movimiento de la caderaLimitación del movimiento de articulación interfalángicaLimitación en la extensión de la rodillaLimitación en la flexión de la rodillaMovilidad limitada de la articulación interfalángica proximalLimitación en al prono-supinación del antebrazoLimitación en el movimiento del hombroLimitación en la extensión de la muñeca

Limitación en el movimiento de la muñecaClavículas largasCoxis largoFalange distal alargada de dedo de la manoPeroné largoDedos de la mano largosDedos del pie largosDedos gordos de los pies largosMetacarpianos largosFalange media del dedo de la mano largoPalma de la mano largaFalange del dedo de la mano largoFalange proximal del dedo de la mano largoSegundo metacarpiano largoApófisis estiloides largos del radio/cúbitoTórax largoDedo del pie largoCúbito largoDolor lumbarAsimetría de extremidad inferiorDolor de la extremidad inferiorPeromelia de la extremidad inferiorFocomelia de la extremidad inferiorHipocrecimiento de la extremidad inferiorEstrechamiento de la distancia interpedicular de vértebras torácicas bajasCifosis de vértebras torácicas bajasHemivértebras lumbaresHiperlordosis lumbarEstrechamiento de la distancia interpedicular lumbarCifoescoliosis lumbarCifosis lumbarCifosis lumbar en la infanciaPlatispondilia lumbarEscoliosis lumbarEstenosis del canal lumbar espinalMeningocele lumbosacroFusión semilunar-piramidalDefecto lítico del húmeroDefecto lítico en metáfisis de los miembros superioresDefecto lítico de los huesos del carpoDefecto lítico de la diáfisis del húmeroDefecto lítico de diáfisis radialDefecto lítico de metáfisis radialDefecto lítico de los huesos del antebrazoDefecto lítico de la metafisis humeralDefecto lítico del radioDefecto lítico de metáfisis cubitalMacrodactiliaMacrodactilia de dedo de la manoMacrodactilia del dedo del pie

Deformidad de MadelungDeformidades del antebrazo madelung-likeMalalineación de los huesos del carpoTrastornos del desarrollo de la articulación radio-cubitalMarcado retraso en la edad óseaMasivo engrosamiento de las corticales de huesos largos Calcificación arterial en la capa mediaCalcificación de la media de las grandes arteriasCalcificación de la media de las arterias de tamaño medianoCalcificación de la media de las arterias pequeñasDesviación medial del pieRotación medial del maléolo medialEnsanchamiento medial de las clavículasEpífisis radial anómala en la región medialDesviación medial del segundo dedo del pieEpífisis radial aplanada hacia medialPlacas epifisarias radiales fusionadas medialmenteAngulación medial de la epífisis radialAngulación medial de la metáfisis radialPolidactilia en pie mesoaxialPolidactilia en mano mesoaxialPolidactilia mesoaxialMesomeliaAcortamiento mesomélico del brazo Acortamiento mesomélico de la pierna Esclerosis endosteal diáfisis metacarpianaOsteólisis metacarpianaEngrosamiento perióstico metacarpianoSinostosis metacarpianoContractura de la articulación metacarpofalángicaHiperextensibilidad articulación metacarpofalángicaSinostosis metacarpofalángicaAnomalías metafisaria de fémur distal y proximalCondrodisplasia metafisariaMetáfisis en forma de copaMetáfisis de los metacarpianos en forma de copaMetáfisis de las falanges proximales en forma de copaMetáfisis en confetiDisostosis metafisariaDisplasia metafisariaEncondromatosis metafisariaIrregularidad metafisariaRarefacción metafisariaEsclerosis metafisariaEspículas metafisariasAmpliación metafisariaEsclerosis endosteal de la diáfisis del metatarsoOsteólisis metatarsalEngrosamiento perióstico metatarsalMetatarso aducto

Metatarso valgoMicromeliaAplasia clavicularHipoplasia clavicularPolidactilia de pie imagen en espejoPolidactilia en mano imagen en espejoPolidactilia imagen en espejo Ausencia costal, ausencia de costillasCalcificación de la válvula mitralDeformidad en manoplaEsclerosis mixta de la metáfisis humeralOsteoporosis generalizada moderadaMonodactilia (pies)Monodactilia (manos)Displasia fibrosa monostóticaEnfermedad de KienboeckEnfermedad de KoehlerEnfermedad de Osgood-SchlatterEnfermedad de ScheuermannOsificación multicéntrica de la cabeza femoralOsificación multicéntrica de las epífisis femorales proximalesOsificación multicéntrica de las epífisis proximales del húmeroMúltiples lesiones quísticas óseasMúltiples centros de osificación del carpoExostosis múltiples de dedos de la manoEncondromatosis múltipleDisplasia epifisaria múltipleExostosis múltipleContracturas articulares múltiplesLuxación articular múltipleExostosis múltiples de huesos largosPliegues palmares múltiplesFracturas prenatales múltiplesPterigión múltipleFracturas costales múltiplesAnomalías esqueléticas múltiplesFracturas vertebrales multiples pequeñasCalcificación de miocardioEstrechamiento anteroposterior del cuerpo vertebral Espacios articulaciones del carpo estrechasTórax estrechoCuello femoral estrechoPie estrecho - delgadoAgujero obturador estrechoEstrechamiento de las hendiduras sacrociáticas mayoresAlas ilíacas estrechasEspacios articulares del codo estrechosEspacios articulares de la muñeca estrechosPalma estrechaPelvis estrecha

Muesca sacroilíaca estrechaMuescas sacroilíacas estrechas en la infanciaEstrechamiento de las pequeñas articulaciones de la manoDistancia interpedicular vertebral estrechaPterigion colliPunteado epifisiario neonatalTalla baja neonatal con tronco cortoNeoplasia del sistema esqueléticoArtropatía neuropáticaPulgar trifalángico no oponibleQuinto metatarsiano no osificadoBandas transversales de densidad normal en metáfisis de los miembros superioresBandas transversales densidad normal (húmero)Huesos de la mano con muescas - hendidosCúbito mellado - hendidoOligodactiliaOligodactilia (pies)Oligodactilia (manos)Pulgar oponible trifalángicoOs odontoideumSindactilia ósea dedoSindactilia ósea de los dedos del pieOsteoartritisOsteoartritis de la articulación interfalángica distalOsteoartritis del codoOsteoartritis de la primera articulación carpometacarpianaOsteoartritis de las articulaciones pequeñas de las manosOsteoblastomaOsteocondrosis disecanteOsteólisisOsteólisis comprometiendo huesos de los piesOsteólisis comprometiendo huesos de los miembros inferioresOsteólisis comprometiendo huesos del tarsoOsteólisis de rótulasOsteólisis del escafoidesOsteólisis del astrágaloDefecto osteolítico de la falange distal del pulgarDefecto osteolítico de la falange proximal del pulgarDefecto osteolítico de la falange proximal del primer dedo del pieDefecto osteolítico de la falange del pulgarDefectos osteolíticos del primer metacarpianoDefectos osteolíticos del primer metatarsianoDefectos osteolíticos de las falanges distales de la manoDefectos osteolíticos de las falanges distales de los piesDefectos osteolíticos de la falange distal del segundo de la manoDefectos osteolíticos de la falange distal del segundo dedo del pieDefectos osteolíticos de la falange distal del tercer de la mano Defectos osteolíticos de la falange distal del tercer dedo del pieDefectos osteolíticos de la falange distal del cuarto de la manoDefectos osteolíticos de la falange distal del cuarto dedo del pie

Defectos osteolíticos de la falange distal del quinto de la manoDefectos osteolíticos de la falange distal del quinto dedo del pieDefectos osteolíticos de la falange distal del dedo gordo del pieDefectos osteolíticos de los huesos de la manoDefectos osteolíticos de las falanges medias de la manoDefectos osteolíticos de las falanges medias de los piesDefectos osteolíticos de la falange media del segundo de la manoDefectos osteolíticos de la falange media del segundo dedo del pieDefectos osteolíticos de la falange media del tercer de la mano Defectos osteolíticos de la falange media del tercer dedo del pieDefectos osteolíticos de la falange media del cuarto de la manoDefectos osteolíticos de la falange media del cuarto dedo del pieDefectos osteolíticos de la falange media del quinto de la manoDefectos osteolíticos de la falange media del quinto dedo del pieDefectos osteolíticos de las falanges del segundo de la manoDefectos osteolíticos de las falanges del segundo dedo del pieDefectos osteolíticos de las falanges del tercer dedo de la manoDefectos osteolíticos de las falanges del tercer dedo del pieDefectos osteolíticos de las falanges del cuarto de la manoDefectos osteolíticos de las falanges del cuarto dedo del pieDefectos osteolíticos de las falanges del quinto de la manoDefectos osteolíticos de las falanges del quinto dedo del pieDefectos osteolíticos de las falanges del dedo gordo del pie Defectos osteolíticos de las falanges de la manoDefectos osteolíticos de las falanges de los dedos de los piesDefectos osteolíticos de las falanges proximales de la manoDefectos osteolíticos de la falange proximal del segundo dedo de la manoDefectos osteolíticos de la falange proximal del segundo dedo del pieDefectos osteolíticos de la falange proximal del tercer dedo de la mano Defectos osteolíticos de la falange proximal del tercer dedo del pieDefectos osteolíticos de la falange proximal del cuarto dedo de la manoDefectos osteolíticos de la falange proximal del cuarto dedo del pieDefectos osteolíticos de la falange proximal del quinto dedo de la manoDefectos osteolíticos de la falange proximal del quinto dedo del pieDefectos osteolíticos de la falange proximal del dedo gordo del pieOsteomaOsteomalaciaOsteomielitisOsteomielitis secundaria a inmunodeficienciaOsteopatía estriadaOsteopeniaOsteopetrosisOsteopoiquiliaOsteoporosisOsteoporosis vertebralOsteoporosis en los huesos del antebrazo Osteoporosis del húmeroOsteoporosis metatarsalOsteoporosis del tarsoOsteosarcoma

Osteosclerosis costalOsteosclerosis de la base del cráneoOsteosclerosis del cúbitoTranslucencia oval (húmero)Superposición de los dedo de la manosSuperposición de los dedos del pieHuesos de la mano sobremodeladosHuesos largos sobremodeladosVértebra toracolumbar ovoideCuerpos vertebrales ovoidesFracturas indoloras debido a una lesiónHoyuelos palmaresTelangiectasia palmarAmpollas palmoplantaresCutis girata palmoplantarCutis laxa palmoplantarHiperqueratosis palmoplantarQueratosis palmoplantar con eritema e incrustacionesCalcificación pancreáticaAusencia parcial del dedo de la manoAusencia parcial del pulgarAusencia parcial del dedo del pieDuplicación parcial de la falange del segundo dedo del pieDuplicación parcial del primer metatarsianoDuplicación parcial de las falanges distales de la manoDuplicación parcial de la falange distal del segundo dedo de la manoDuplicación parcial de la falange distal del segundo dedo del pieDuplicación parcial de la falange distal del tercer dedo de la mano Duplicación parcial de la falange distal del tercer dedo del pieDuplicación parcial de la falange distal del cuarto dedo de la manoDuplicación parcial de la falange distal del cuarto dedo del pieDuplicación parcial de la falange distal del quinto dedo de la manoDuplicación parcial de la falange distal del quinto dedo del pieDuplicación parcial de la falange distal del dedo gordo del pieDuplicación parcial de las falanges medias de la manoDuplicación parcial de la falange media del segundo dedo de la manoDuplicación parcial de la falange media del segundo dedo del pieDuplicación parcial de la falange media del tercer dedo de la mano Duplicación parcial de la falange media del tercer dedo Duplicación parcial de la falange media del cuarto dedo de la manoDuplicación parcial de la falange media del cuarto dedo del pieDuplicación parcial de la falange media del quinto dedo de la manoDuplicación parcial de la falange media del quinto dedo del pieDuplicación parcial de las falanges del segundo dedo de la manoDuplicación parcial de las falanges del tercer dedo de la mano Duplicación parcial de las falanges del cuarto dedo de la manoDuplicación parcial de las falanges del quinto dedo de la manoDuplicación parcial de las falanges del dedo gordo del pieDuplicación parcial de la falange de la manoDuplicación parcial de las falanges proximales de la mano

Duplicación parcial de la falange proximal del segundo dedo de la manoDuplicación parcial de la falange proximal del segundo dedo del pieDuplicación parcial de la falange proximal del tercer dedo de la mano Duplicación parcial de la falange proximal del tercer dedo del pieDuplicación parcial de la falange proximal del cuarto dedo de la manoDuplicación parcial de la falange proximal del cuarto dedo del pieDuplicación parcial de la falange proximal del quinto dedo de la manoDuplicación parcial de la falange proximal del quinto dedo del pieDuplicación parcial de la falange proximal del dedo gordo del pieDuplicación parcial de la falange del pulgarFusión parcial del carpoFusión parcial de la fila proximal de los huesos del carpoFusión parcial del tarsoAusencia parcial-completa de falanges de los quintos dedos de la mano y el pieCambios irregulares de la densidad mineral óseaDistorsión irregular de las vértebrasOsteosclerosis en parchesDisminución de la densidad mineral ósea en parchesEsclerosis irregular de la falange del segundo dedo de la manoEsclerosis irregular de la falange del segundo dedo del pieEsclerosis irregular de la falange del tercer dedo de la manoEsclerosis irregular de la falange del tercer dedo del pieEsclerosis irregular de la falange del cuarto dedo de la manoEsclerosis irregular de la falange del cuarto dedo del pieEsclerosis irregular de la falange del quinto dedo de la manoEsclerosis irregular de la falange del quinto dedo del pieEsclerosis irregular de la falange distal del dedo de la manoEsclerosis irregular de la falange distal del dedo del pieEsclerosis irregular de la falange del dedo de la manoEsclerosis irregular de la falange del dedo gordo del pieEsclerosis irregular de los huesos de la manoEsclerosis irregular de la falange media del dedo de la manoEsclerosis irregular de la falange media del dedo del pieEsclerosis irregular de la falange proximal del dedo de la manoEsclerosis irregular de la falange proximal del dedo del pieEsclerosis irregular de la diáfisis radialEsclerosis irregular del primer metacarpianoEsclerosis irregular del primer metatarsianoEsclerosis irregular de la falange distal del segundo dedo de la manoEsclerosis irregular de la falange distal del segundo dedo del pieEsclerosis irregular de la falange distal del tercer dedo de la mano Esclerosis irregular de la falange distal del tercer dedo del pieEsclerosis irregular de la falange distal del cuarto dedo de la manoEsclerosis irregular de la falange distal del cuarto dedo del pieEsclerosis irregular de la falange distal del quinto dedo de la manoEsclerosis irregular de la falange distal del quinto dedo del pieEsclerosis irregular de la falange distal del dedo gordo del pieEsclerosis irregular de la falange distal del pulgarEsclerosis irregular de la falange media del segundo dedo de la manoEsclerosis irregular de la falange media del segundo dedo del pie

Esclerosis irregular de la falange media del tercer dedo de la mano Esclerosis irregular de la falange media del dedo tercero del pieEsclerosis irregular de la falange media del cuarto dedo de la manoEsclerosis irregular de la falange media del cuarto dedo del pieEsclerosis irregular de la falange media del quinto dedo de la manoEsclerosis irregular de la falange media del quinto dedo del pieEsclerosis irregular de la falange proximal del segundo dedo de la manoEsclerosis irregular de la falange proximal del segundo dedo del pieEsclerosis irregular de la falange proximal del tercer dedo de la mano Esclerosis irregular de la falange proximal del tercer dedo del pieEsclerosis irregular de la falange proximal del cuarto dedo de la manoEsclerosis irregular de la falange proximal del cuarto dedo del pieEsclerosis irregular de la falange proximal del quinto dedo de la manoEsclerosis irregular de la falange proximal del quinto dedo del pieEsclerosis irregular de la falange proximal del dedo gordo del pieEsclerosis irregular de la falange proximal del pulgarEsclerosis irregular de la falange del pulgarEsclerosis irregular de la falange del dedo del pieVariación irregular en la densidad mineral óseaAplasia rotuliana - patelarLuxación patelarHipoplasia patelarSubluxación rotulianaFracturas patológicasVértebras en forma de peraHipoplasia/aplasia del músculo pectoral Pectoral hipoplasiaPectus carinatumPectus excavatumPectus excavatum región inferior del esternónProminencia central de las metáfisis tibiales distales (con forma de ganchos)Asimetría pélvicaExostosis pélvicasNuevo hueso perióstico (diáfisis humeral)Nuevo hueso perióstico (húmero)Engrosamiento del periostio de los huesos tubulares largosPeromeliaAtrofia muscular peronealPie cavoPie planoLuxaciones de las falangesFocomeliaAbsceso pilonidalFístula pilonidalSeno pilonidalContracturas en flexión plantarPlatispondiliaPlatispondilia (infantil)Huesos de la mano en puntaMetáfisis humeral en punta

Segundo a quinto metacarpianos proximales en puntaCúbito en puntaMetáfisis cubital en puntaArtritis poliarticularArtropatía poliarticularPolidactiliaPolidactilia que afecta el segundo dedo de la manoPolidactilia que afecta el segundo dedo del piePolidactilia que afecta el tercer dedo de la manoPolidactilia que afecta el tercer dedo del piePolidactilia que afecta el cuarto dedo de la manoPolidactilia que afecta el cuarto dedo del pieDisplasia fibrosa poliostóticaPolisindactilia de dedo gordo del pieVértebras cervicales pobremente osificadasVértebras pobremente osificadasPterigium poplíteoDeformidad posicional del piePolidactilia postaxial del piePolidactilia postaxial de la manoOligodactilia postaxialPolidactilia postaxialPolidactilia postaxial tipo APolisindactilia postaxial de pieFusión posterior de las vértebras lumbosacrasLuxación posterior de la cabeza radialCostilla posterior ahuecadaFusión costal posteriorFestoneado posterior de los cuerpos vertebralesSubluxación posterior de la cabeza radialHipoplasia vertebral posteriorAcuñamiento posterior de los cuerpos vertebralesCúbito dislocado hacia posteriorPolidactilia preaxial en piePolidactilia en mano preaxialPolidactilia preaxialOsificación costocondral precozCalcificación precoz del anillo mitralFusión prematura epimetafisiariaFusión epimetafisiaria prematura en el peronéFusión epimetafisiaria prematura en el pieFusión epimetafisiaria prematura en la manoFusión prematura epimetafisiaria en radioFusión epimetafisiaria prematura en la tibiaFusión epimetafisiaria prematura en el cúbitoFusión prematura de la epífisis de las falangesFusión prematura de las placas epifisarias radialesArtrosis prematuraSinostosis esternal prematuraEncurvamiento progresivo de los huesos largos

Calcificación progresiva del cartílago costocondralFusión espinal progresiva de las vértebras cervicalesAcrosteólisis clavicular progresivaEscoliosis congénita progresivaContracturas en flexión progresivasEncurvamiento progresivo del antebrazoFusión progresiva de articulaciones interfalángicas proximales segunda-quintaDisminución progresiva del espacio intervertebralDestrucción progresiva de las articulacionesEncurvamiento progresivo de la piernaPie cavo progresivoCalcáneo prominenteTuberosidades deltoides prominentesAlmohadillas de la yema del dedo prominentesCostillas flotantes prominentesPliegues interdigitales prominentesArticulaciones interfalángicas prominentesPliegues de flexión palmar prominenteCoxis prominenteArticulaciones interfalángicas proximales prominentesEsternón prominenteXifoides prominenteAcortamiento proporcional de todos los dedos de la manoProtrusión acetabularProtuberancias en los extremos de los huesos largosEpifisiolisis femoral proximalCrecimiento excesivo del peroné proximalHiperextensibilidad articular proximal de dedo de la manoAmiotrofia proximal del miembro inferiorEngrosamiento perióstico de la falange proximalDesplazamiento proximal del dedo gordo del pieDesplazamiento proximal del pulgarLuxación proximal de la cabeza radialSinostosis radiocubital proximalSinfalangismo proximalSinfalangismo proximal (pies)Sinfalangismo proximal (manos)Estrechamiento proximal de los metacarpianosFusión tibial y peroneal proximalHipoplasia tibial proximalSinfalangismo proximal/medio de segundo dedo del pieSinfalangismo proximal/medio de tercer dedo de la manoSinfalangismo proximal/medio de tercer dedo del pieSinfalangismo proximal/medio de cuarto dedo de la manoSinfalangismo proximal/medio de cuarto dedo del pieSinfalangismo proximal/medio de quinto dedo de la manoSinfalangismo proximal/medio de quinto dedo del pieSinfalangismo proximal/medio del segundo dedo de la manoDesplazamiento proximal de los huesos del carpoSemilunar desplazado hacia proximal

Pseudoartrosis (humeral)Pseudoartrosis de los huesos del antebrazoPseudoartrosis del radioPseudo-fracturasPseudoartrosisPseudoepífisisPseudoepífisis de huesos de la manoPseudoepífisis de segundo metacarpianoPseudoepífisis del segundo dedo de la manoPseudoepífisis del segundo dedo del piePseudoepífisis del tercer dedo de la manoPseudoepífisis de la tercer dedo del piePseudoepífisis del cuarto dedo de la manoPseudoepífisis del cuarto dedo del piePseudoepífisis del quinto dedo de la manoPseudoepífisis del quinto dedo del piePseudoepífisis de las falanges distales de la manoPseudoepífisis del dedo gordo del piePseudoepífisis de los metacarpianosPseudoepífisis de las falanges medias de la manoPseudoepífisis de las falanges de la manoPseudoepífisis de las falanges proximales de la manoPseudoepífisis de los dedos de los piesPseudoepífisis del primer metacarpianoPseudoepífisis del primer metatarsianoPseudoepífisis del segundo metacarpianoPseudoepífisis del tercer metacarpianoPseudoepífisis del cuarto metacarpianoPseudoepífisis del quinto metacarpianoPseudoepífisis de la falange distal del segundo dedo de la manoPseudoepífisis de la falange distal del segundo dedo del piePseudoepífisis de la falange distal del tercer dedo de la mano Pseudoepífisis de la falange distal del tercer dedo del piePseudoepífisis de la falange distal del cuarto dedo de la manoPseudoepífisis de la falange distal del cuarto dedo del piePseudoepífisis de la falange distal del quinto dedo de la manoPseudoepífisis de la falange distal del quinto dedo del piePseudoepífisis de la falange distal del dedo gordo del piePseudoepífisis de la falange distal del pulgarPseudoepífisis de la falange media del segundo dedo de la manoPseudoepífisis de la falange media del segundo dedo del piePseudoepífisis de la falange media del tercer dedo de la manoPseudoepífisis de la falange media del tercer dedoPseudoepífisis de la falange media del cuarto dedo de la manoPseudoepífisis de la falange media del cuarto dedo del piePseudoepífisis de la falange media del quinto dedo de la manoPseudoepífisis de la falange media del quinto dedo del piePseudoepífisis de la falange proximal del segundo dedo de la manoPseudoepífisis de la falange proximal del segundo dedo del piePseudoepífisis de la falange proximal del tercer dedo de la mano

Pseudoepífisis de la falange proximal del tercer dedo del piePseudoepífisis de la falange proximal del cuarto dedo de la manoPseudoepífisis de la falange proximal del cuarto dedo del piePseudoepífisis de la falange proximal del quinto dedo de la manoPseudoepífisis de la falange proximal del quinto dedo del piePseudoepífisis de la falange proximal del dedo gordo del piePseudoepífisis de la falange proximal del pulgarPseudoepífisis del pulgarPterigiónHiperqueratosis palmoplantar punctataCalcificaciones punctatas vertebralesAplasia del cuádriceps Atrofia del músculo cuádricepsRosario costalEncurvamiento radialDesviación radial de la manoDesviación radial del dedo de la manoDesviación radial del segundo dedo de la manoDesviación radial del tercer dedo de la mano Desviación radial del cuarto dedo de la manoDesviación radial de la manoDesviación radial de la mano o de los dedos de la manoDesviación radial de falange distal del pulgarSubluxación de la cabeza radialMuñecas desviadas radialmenteLuxación radiocubitalSinostosis radiocubitalFracturas recurrentesLuxación rotuliana recidivanteReducción de la longitud del brazoReducción de la densidad mineral óseaReducción del espacio articular interfalángico proximal Columna relativamente cortaMovimiento restringido del tóraxRestricción del movimiento de las grandes articulacionesCurvatura de la columna vertebral invertidaArtritis reumatoideRizomeliaAcortamiento rizomélico del brazo Acortamiento rizomélico de la pierna Falange distal del quinto dedo de la mano con forma romboidal o triangularFalange media del quinto dedo de la mano con forma romboidal o triangularFalange proximal del quinto dedo de la mano con forma romboidal o triangularExostosis costalFusión costalAnomalías de segmentación costalRaquitismoRaquitismo de los miembros inferioresPie en mecedora - talo vertical congénitoHueso trabecular irregular

Epífisis redondeada de los miembros superioresEpífisis humeral redondeadaEpífisis radial redondeadaEpífisis redondeadasFalange media redondeada de dedo de la manoPeroné rudimentarioPolidactilia postaxial rudimentaria de las manosPeroné rudimentario o ausenteTibia rudimentaria o ausenteHoyuelo sacroMeningocele sacroDefectos de segmentación del sacroAnormalidad pilonidal sacrococcígeaArtritis sacroilíacaSinovitis articulación sacroilíacaOsteomielitis por salmonellaSeparación entre el primer y segundo dedos del pie (sandal gap)Cuerpos vertebrales con apariencia de sandwich Aplasia escapularExostosis escapularAtrofia muscular escapularEscápula aladaSinostosis escapulohumeralMiopatía escapuloperonealCambios vertebrales similares a la enfermedad de ScheuermannCiáticaEsclerosis de la falange del segundo dedo de la manoEsclerosis de la falange del segundo dedo del pieEsclerosis de la falange del tercer dedo de la manoEsclerosis de la falange del tercer dedo del pieEsclerosis de la falange del cuarto dedo de la manoEsclerosis de la falange del cuarto dedo del pieEsclerosis de la falange del quinto dedo de la manoEsclerosis de la falange del quinto dedo del pieEsclerosis de la falange distal del dedo de la manoEsclerosis de la falange distal del dedo del pieEsclerosis de la falange del dedo de la manoEsclerosis del hueso del pieEsclerosis de la falange del dedo gordo del pieEsclerosis del hueso de la manoEsclerosis de los huesos de la mano con estrías transversalesEsclerosis de diáfisis humeralEsclerosis de metáfisis de los miembros superioresEsclerosis de la falange media del dedo de la manoEsclerosis de la falange media del dedo del pieEsclerosis de la falange proximal del dedo de la manoEsclerosis de la falange proximal del dedo del pieEsclerosis del primer metacarpianoEsclerosis del primer metatarsianoEsclerosis de la falange distal del segundo dedo de la mano

Esclerosis de la falange distal del segundo dedo del pieEsclerosis de la falange distal del tercer dedo de la mano Esclerosis de la falange distal del tercer dedo del pieEsclerosis de la falange distal del cuarto dedo de la manoEsclerosis de la falange distal del cuarto dedo del pieEsclerosis de la falange distal del quinto dedo de la manoEsclerosis de la falange distal del quinto dedo del pieEsclerosis de la falange distal del dedo gordo del pieEsclerosis de la falange distal del pulgarEsclerosis de la falange media del segundo dedo de la manoEsclerosis de la falange media del segundo dedo del pieEsclerosis de la falange media del tercer dedo de la mano Esclerosis de la falange media del dedo tercero del pieEsclerosis de la falange media del cuarto dedo de la manoEsclerosis de la falange media del cuarto dedo del pieEsclerosis de la falange media del quinto dedo de la manoEsclerosis de la falange media del quinto dedo del pieEsclerosis de la falange proximal del segundo dedo de la manoEsclerosis de la falange proximal del segundo dedo del pieEsclerosis de la falange proximal del tercer dedo de la manoEsclerosis de la falange proximal del tercer dedo del pie Esclerosis de la falange proximal del cuarto dedo de la manoEsclerosis de la falange proximal del cuarto dedo del pieEsclerosis de la falange proximal del quinto dedo de la manoEsclerosis de la falange proximal del quinto dedo del pieEsclerosis de la falange proximal del dedo gordo del pieEsclerosis de la falange proximal del pulgarEsclerosis de la falange del pulgarEsclerosis de la falange del dedo del pieEsclerosis con estrías transversales en metáfisis de los miembros superioresFocos escleróticos en los huesos del antebrazoFocos escleróticos en huesos de la manoFocos escleróticos de diáfisis humeralFocos escleróticos de metáfisis del codoFocos escleróticos del húmeroFocos escleróticos en los huesos del carpoHuesos del antebrazo escleróticosMetáfisis humeral escleróticaMetáfisis humeral esclerótica con estrías longitudinalesEpífisis radiales escleróticasMetáfisis radial esclerótica con estrías longitudinalesEscápulas escleróticaPlacas terminales vertebrales escleróticasEscoliosisSegundo metatarsiano desplazado hacia posteriorClinodactilia del segundo dedo del pieArtritis sépticaRetraso severo en la osificación del carpoAcortamiento importante del miembroOsteoporosis severa

Platispondilia severaFosa acetabular poco profundaTórax anchoPrimer metacarpiano cortoSegundo dedo de la mano cortoSegundo metacarpiano cortoSegundo dedo del pie cortoTercer dedo de la mano cortoTercer metacarpiano cortoTercer dedo del pie cortoCuarto dedo de la mano cortoCuarto metacarpiano cortoCuarto dedo del pie cortoQuinto dedo de la mano cortoQuinto metacarpiano cortoQuinto dedo del pie cortoClavículas cortosDiáfisis cortasBraquidactiliaFalange distal del dedo de la mano corta Falange distal del dedo gordo del pie cortaFalange distal corta del segundo dedo de la manoFalange distal corta del segundo dedo del pieFalange distal corta del tercer dedo de la manoFalange distal corta del tercer dedo del pieFalange distal corta del cuarto dedo de la manoFalange distal corta del cuarto dedo del pieFalange distal corta del quinto dedo de la manoFalange distal corta del quinto dedo del pieFalange distal corta del pulgarFalange distal corta del dedo gordo del pie Cuello femoral cortoFémur cortoQuinto metatarsiano cortoDedo de la mano cortoPrimer metatarsiano cortoPie cortoAntebrazo cortoCuarto metatarsiano cortoDedo gordo del pie cortoHúmero cortoHuesos ilíacos cortosAcortamiento de huesos largos Miembros inferiores cortosMetacarpiano cortoMetacarpianos cortos con extremos proximales redondeadosMetatarsiano cortoAcortamiento de la falange media del dedo de la manoAcortamiento de la falange media del segundo dedo de la manoAcortamiento de la falange media del segundo dedo del pie

Acortamiento de la falange media del tercer dedo de la manoAcortamiento de la falange media del tercer dedo del pieAcortamiento de la falange media del cuarto dedo de la manoAcortamiento de la falange media del cuarto dedo del pieAcortamiento de la falange media del quinto dedo de la manoAcortamiento de la falange media del quinto dedo del pieAcortamiento de las falanges medias del pieAcortamiento de la palmaAcortamiento de las falanges de los dedosAcortamiento de la falange del dedo gordo del pieAcortamiento de la falange del segundo dedo del pieAcortamiento de la falange del tercer dedo del pieAcortamiento de la falange del cuarto dedo del pieAcortamiento de la falange del quinto dedo del pieAcortamiento de la falange del pulgarFalanges puntiagudas cortasAcortamiento de la falange proximal del dedo de la mano Acortamiento de la falange proximal del dedo gordo del pie Acortamiento de la falange proximal del segundo dedo de la manoAcortamiento de la falange proximal del segundo dedo del pieAcortamiento de la falange proximal del tercer dedo de la manoAcortamiento de la falange proximal del tercer dedo del pieAcortamiento de la falange proximal del cuarto dedo de la manoAcortamiento de la falange proximal del cuarto dedo del pieAcortamiento de la falange proximal del quinto dedo de la manoAcortamiento de la falange proximal del quinto dedo del pieAcortamiento de la falange proximal del pulgarAcortamiento de la falange proximal del dedo gordo del pie Costillas cortasAcortamiento del segundo metatarsiano Esternón cortoAcortamiento del tercer metatarsianoTórax cortoPulgar cortoTibia cortaAcortamiento del dedo gordo del pieHuesos tubulares cortos (mano)Acortamiento de todas las falanges distales de los dedos de la manosAcortamiento de todas las falanges distales de los dedos de los piesAcortamiento de los metacarpianosAcortamiento de todas las falanges medias de los dedos de la manosAcortamiento de todas las falanges medias de los dedos de los piesAcortamiento de todas las falanges de los dedos de la manosAcortamiento de todas las falanges de los dedos de los piesAcortamiento de todas las falanges proximales de los dedos de la manosAcortamiento del cuello del astrágaloAcortamiento de la tibiaLuxación del hombroContractura en flexión de hombroDebilidad muscular de la cintura escapular

Hipoplasia del músculo del hombroSubluxación de hombroPliegue interfalángico único del quinto dedoPliegue palmar transverso únicoSirenomeliaSeis vértebras lumbaresDisplasia esqueléticaFalange distal del dedo de la mano delgadaDedo de la mano delgado Huesos del antebrazo delgadosDiáfisis humeral delgadaHúmero delgadoHueso largo y delgadoHuesos largos y delgados con diáfisis estrechasMetacarpianos delgadosFalange media del dedo de la mano delgadaFalange proximal del dedo de la mano delgadaPie delgadoCúbito delgadoMetáfisis humeral inclinadaEpífisis radial inclinadaMetáfisis radial inclinadaMetáfisis cubital inclinadaEscápula pequeña de forma anormalCuerpos vertebrales cervicales pequeñosEpífisis femoral distal pequeñaEpífisis pequeñasEpífisis pequeña del segundo dedo de la manoEpífisis pequeña del segundo dedo del pieEpífisis pequeña del tercer dedo de la manoEpífisis pequeña del tercer dedo del pieEpífisis pequeña del cuarto dedo de la manoEpífisis pequeña del cuarto dedo del pieEpífisis pequeña del quinto dedo de la manoEpífisis pequeña del quinto dedo del pieEpífisis pequeñas de las falanges distales de la manoEpífisis pequeñas del dedo gordo del pieEpífisis pequeñas de los metacarpianosEpífisis pequeñas de las falanges medias de la manoEpífisis pequeñas de las falanges de la manoEpífisis pequeñas de las falanges proximales de la manoEpífisis pequeñas de los dedos de los piesEpífisis pequeñas de los miembros superioresEpífisis pequeña del primer metacarpianoEpífisis pequeña del primer metatarsianoEpífisis pequeña de la falange distal del segundo dedo de la manoEpífisis pequeña de la falange distal del segundo dedo del pieEpífisis pequeña de la falange distal del tercer dedo de la mano Epífisis pequeña de la falange distal del tercer dedo del pieEpífisis pequeña de la falange distal del cuarto dedo de la mano

Epífisis pequeña de la falange distal del cuarto dedo del pieEpífisis pequeña de la falange distal del quinto dedo de la manoEpífisis pequeña de la falange distal del quinto dedo del pieEpífisis pequeña de la falange distal del dedo gordo del pieEpífisis pequeña de la falange distal del pulgarEpífisis pequeña de la falange media del segundo dedo de la manoEpífisis pequeña de la falange media del segundo dedo del pieEpífisis pequeña de la falange media del tercer dedo de la mano Epífisis pequeña de la falange media del tercer dedo del pieEpífisis pequeña de la falange media del cuarto dedo de la manoEpífisis pequeña de la falange media del cuarto dedo del pieEpífisis pequeña de la falange media del quinto dedo de la manoEpífisis pequeña de la falange media del quinto dedo del pieEpífisis pequeña de la falange proximal del segundo dedo de la manoEpífisis pequeña de la falange proximal del segundo dedo del pieEpífisis pequeña de la falange proximal del tercer dedo de la mano Epífisis pequeña de la falange proximal del tercer dedo del pieEpífisis pequeña de la falange proximal del cuarto dedo de la manoEpífisis pequeña de la falange proximal del cuarto dedo del pieEpífisis pequeña de la falange proximal del quinto dedo de la manoEpífisis pequeña de la falange proximal del quinto dedo del pieEpífisis pequeña de la falange proximal del dedo gordo del pieEpífisis pequeña de la falange proximal del pulgarMano pequeñaEpífisis humeral pequeñaEminencia hipotenar pequeñaEpífisis tibial proximal pequeñaEpífisis radial pequeñaEscotadura sacroilíaca pequeñaEscafoides pequeñoEminencia tenar pequeñaEpífisis del pulgar pequeñaTrapecio pequeñoHueso trapezoide pequeñoCuerpos vertebrales pequeñosInflamación del tejido blando de las articulaciones interfalángicasOsificación de los tejidos blandos alrededor de los hombrosHueso trabecular escasoCostillas en espátulaPulgares espatuladosEstenosis del canal espinalDeformidades de la columna vertebralDisplasia espinalInestabilidad espinalRigidez espinalEstenosis espinal con reducción de la distancia interpedicularQueratosis espinosas de palmas y plantasEpífisis extendidasDedos de los pies separadosPie hendido

Mano hendidaDisplasia espondiloepimetafisariaDisplasia espondiloepifisariaEspondilolistesisEspondilolistesis en L5-S1EspondilolisisDisplasia espondilometafisariaAnomalía de Sprengel Espuela en la metáfisis humeral Espuelas en las metáfisis de los miembros superioresEspuelas en las metáfisis radiales Espuelas en la metáfisis cubital Espuelas de la diáfisis radialMetáfisis humeral cuadradaPelvis cuadradaHuesos ilíacos cuadradosPlatispondilia cuadradaTecho acetabular inclinadoEstenosis de la cavidad medular de los huesos largosCalcificaciones puntiformes en esternónArticulaciones interfalángicas rígidasRigidez en hombrosCalcificaciones punteadas en los huesos del carpoCalcificaciones punteadas de huesos de la manoCalcificaciones punteadas de metáfisis humeralCalcificaciones punteadas del codoCalcificaciones punteadas de la epífisis humeralCalcificaciones punteadas del hombroCalcificación punteada epífisis proximal humeralCalcificación condral punteadaPunteado de la epífisis del segundo dedo de la manoPunteado de la epífisis del segundo dedo del piePunteado de la epífisis del tercer dedo de la manoPunteado de la epífisis del tercer dedo del piePunteado de la epífisis del cuarto dedo de la manoPunteado de la epífisis del cuarto dedo del piePunteado de la epífisis del quinto dedo de la manoPunteado de la epífisis del quinto dedo del piePunteado de las epífisis de las falanges distales de la manoPunteado de las epífisis del dedo gordo del piePunteado de las epífisis de las falanges medias de la manoPunteado de las epífisis de las falanges proximales de la manoPunteado de la epífisis del primer metatarsianoPunteado de la epífisis de la falange distal del segundo dedo de la manoPunteado de la epífisis de la falange distal del segundo dedo del piePunteado de la epífisis de la falange distal del tercer dedo de la mano Punteado de la epífisis de la falange distal del tercer dedo del piePunteado de la epífisis de la falange distal del cuarto dedo de la manoPunteado de la epífisis de la falange distal del cuarto dedo del piePunteado de la epífisis de la falange distal del quinto dedo de la mano

Punteado de la epífisis de la falange distal del quinto dedo del piePunteado de la epífisis de la falange distal del dedo gordo del piePunteado de la epífisis de la falange distal del pulgarPunteado de la epífisis de la falange media del segundo dedo de la manoPunteado de la epífisis de la falange media del segundo dedo del piePunteado de la epífisis de la falange media del tercer dedo de la mano Punteado de la epífisis de la falange media del tercer dedo del piePunteado de la epífisis de la falange media del cuarto dedo de la manoPunteado de la epífisis de la falange media del cuarto dedo del piePunteado de la epífisis de la falange media del quinto dedo de la manoPunteado de la epífisis de la falange media del quinto dedo del piePunteado de la epífisis de la falange proximal del segundo dedo de la manoPunteado de la epífisis de la falange proximal del segundo dedo del piePunteado de la epífisis de la falange proximal del tercer dedo de la mano Punteado de la epífisis de la falange proximal del tercer dedo del piePunteado de la epífisis de la falange proximal del cuarto dedo de la manoPunteado de la epífisis de la falange proximal del cuarto dedo del piePunteado de la epífisis de la falange proximal del quinto dedo de la manoPunteado de la epífisis de la falange proximal del quinto dedo del piePunteado de la epífisis de la falange proximal del dedo gordo del piePunteado de la epífisis de la falange proximal del pulgarPunteado de epífisis pulgarClavículas rectasEsclerosis metafisaria en bandasDeformidad estructural del pieCalcificación subcutáneaSubluxación de las articulaciones metacarpo - falángicasSubluxación de la articulación interfalángica proximal del quinto dedo de la manoSubluxación de pequeñas articulaciones de las manosErosiones subperiósticas debido a hiperparatiroidismo secundarioPectus carinatum superiorAnomalías de las costillas superioresHuesos supernumerarios del esqueleto axialHuesos metacarpianos supernumerariosCostillas supernumerariasVértebras supernumerariasCentros de osificación vertebral supernumerariosDeformidades de los dedos de la mano en cuello de cisneInflamación de articulaciones interfalángicas proximalesPliegue de Sydney Sinfalangismo que afecta a las falanges distales de los dedos de los piesSinfalangismo afectando la falange distal del segundo dedo del pieSinfalangismo afectando la falange distal del tercer dedo del pieSinfalangismo afectando la falange distal del cuarto dedo del pieSinfalangismo afectando la falange distal del quinto dedo del pieSinfalangismo afectando la falange distal del dedo gordo del pieSinfalangismo que afecta a las falanges medias de los dedos de los piesSinfalangismo afectando la falange media del segundo dedo del pieSinfalangismo afectando la falange media del tercer dedo del pieSinfalangismo afectando la falange media del cuarto dedo del pie

Sinfalangismo afectando la falange media del quinto dedo del pieSinfalangismo afectando las falanges del segundo dedo del pieSinfalangismo que afecta a las falanges del tercer dedo del pieSinfalangismo afectando las falanges del cuarto dedo del pieSinfalangismo afectando las falanges del quinto dedo del pieSinfalangismo afectando las falanges del dedo gordo del pieSinfalangismo que afecta a las falanges de la manoSinfalangismo que afecta a las falanges de los dedos de los piesSinfalangismo que afecta a las falanges proximales de la manoSinfalangismo que afecta a las falanges proximales de los dedos de los piesSinfalangismo que afecta a la falange proximal del segundo dedo de la manoSinfalangismo que afecta a la falange proximal del segundo dedo del pieSinfalangismo afectando la falange proximal del tercer dedo de la manoSinfalangismo que afecta a la falange proximal del tercer dedo del pieSinfalangismo afectando la falange proximal del cuarto dedo de la manoSinfalangismo que afecta la falange proximal del cuarto dedo del pieSinfalangismo afectando la falange proximal del quinto dedo de la manoSinfalangismo afectando la falange proximal del quinto dedo del pieSinfalangismo afectando la falange proximal del dedo gordo del pieSinfalangismo de la falange media del segundo dedo de la manoSinfalangismo de la falange media del tercer dedo de la manoSinfalangismo de la falange media del cuarto dedo de la manoSinfalangismo de la falange media del quinto dedo de la manoSinfalangismo de la falange media del dedo de la manoSinfalangismo del segundo dedo de la manoSinfalangismo del tercer dedo de la manoSinfalangismo del cuarto dedo de la manoSinfalangismo del quinto dedo de la manoSinfalangismo de la falange proximal del segundo dedo con la segunda metacarpianaSinfalangismo de la falange proximal del segundo dedo del pie con el segundo metatarsianoSinfalangismo de la falange proximal del tercer dedo con el tercer metacarpianoSinfalangismo de la falange proximal del tercer dedo del pie con el tercer metatarsianoSinfalangismo de la falange proximal del cuarto dedo con el cuarto metacarpianoSinfalangismo de la falange proximal del cuarto dedo del pie con el cuarto metatarsianoSinfalangismo de la falange proximal del quinto dedo con el quinta metacarpianoSinfalangismo de la falange proximal del quinto dedo del pie con el quinto metatarsianoSinfalangismo del pulgarSindactiliaSinostosis comprometiendo huesos de los piesSinostosis comprometiendo huesos de los dedos de la manosSinostosis comprometiendo huesos de la manoSinostosis comprometiendo huesos de los miembros inferioresSinostosis comprometiendo huesos de los dedos de los piesSinostosis comprometiendo huesos de las extremidades superioresSinostosis comprometiendo dedos de la manoSinostosis comprometiendo huesos metatarsianosSinostosis comprometiendo el primer metacarpianoSinostosis comprometiendo el primer metatarsianoSinostosis comprometiendo el segundo metacarpianoSinostosis comprometiendo el tercer metacarpiano

Sinostosis comprometiendo el cuarto metacarpianoSinostosis comprometiendo del quinto metacarpianoSinostosis comprometiendo el codoSinostosis comprometiendo el peronéSinostosis comprometiendo la tibiaSinostosis de los huesos del carpoSinostosis del carpo / tarsoSinostosis de las articulacionesSinostosis de metacarpianos / metatarsianosSinostosis del segundo metacarpiano - trapezoideSinostosis de la falange proximal del dedo gordo del pie con el primer metatarsianoSinostosis de la falange proximal del pulgar con la primera metacarpianaSinostosis de la falange del pulgarCondromatosis sinovial del codoHipertrofia sinovialSinovitisTalipesTalipes calcaneovalgo Talipes calcaneovaroTalipes cavo equinovaroTalipes equinovalgoTalipes equinovaro Talipes valgoCuerpos vertebrales lumbares altosSinostosis talocalcáneaFalanges distales cónicas Dedo de la mano cónicoHúmero cónicoMetacarpianos cónicosFalange de la mano cónicaDedo del pie cónicoFalanges distales cónicas de la manoTarso osteovalgoPunteado tarsalSinostosis tarsalSinostosis tarsometatarsianaRuptura del tendónXantomatosis en tendónTetraameliaAtrofia muscular de la región tenarTendón de aquiles engrosadoEngrosamiento cortical óseo Engrosamiento cortical huesos largos Engrosamiento costalEngrosamiento del borde lateral de la escápulaFalanges medias de la mano en forma de dedal Adelgazamiento corticalClavículas delgadasDiáfisis de huesos largos delgadosAdelgazamiento cortical en metacarpianos

Adelgazamiento cortical en metatarsianos Falanges proximales delgadas con epífisis anchasCostillas delgadasClinodactilia del tercer dedo del pieCalcificación de la aorta torácicaDisplasia torácicaHemivértebra torácicaHipoplasia torácicaCifoescoliosis torácicaCifosis torácicaPlatispondilia torácicaEscoliosis torácicaDefectos de la pared toracoabdominalEstrechamiento interpedicular toracolumbarCifoescoliosis toracolumbarCifosis toracolumbarEscoliosis toracolumbarPulgares hipoplásicos con almohadillas bulbosasArqueamiento tibialDesviación tibial del segundo dedo del pieDesviación tibial del tercer dedo del pieDesviación tibial del cuarto dedo del pieDesviación tibial del quinto dedo del pieDesviación tibial de los dedos del pieSeudoartrosis tibialTorsión tibialDiastasis tibioperoneaClinodactilia del dedo del pieAmiotrofia extensor del dedo del pieSindactilia del dedo del pieFalanges proximales en forma de lápidaVertebrales lumbares con deformidades en lengüetaCalcificación traquealCóndilos femorales distales en forma trapezoideCuerpos vertebrales con forma trapezoidalEpífisis triangularesEpífisis triangular del segundo dedo de la manoEpífisis triangular del segundo dedo del pieEpífisis triangular del tercer dedo de la manoEpífisis triangular en el tercer dedo del pieEpífisis triangular del cuarto dedo de la manoEpífisis triangular del cuarto dedo del pieEpífisis triangular del quinto dedo de la manoEpífisis triangular del quinto dedo del pieEpífisis triangulares de las falanges distales de la manoEpífisis triangular del dedo gordo del pieEpífisis triangulares de los metacarpianosEpífisis triangulares de las falanges medias de la manoEpífisis triangulares de las falanges de la manoEpífisis triangulares de las falanges proximales de la mano

Epífisis triangulares del pulgarEpífisis triangular de los dedos de los piesEpífisis triangular del primer metacarpianoEpífisis triangular del primer metatarsianoEpífisis triangular de la falange distal del segundo dedo de la manoEpífisis triangular de la falange distal del segundo dedo del pieEpífisis triangular de la falange distal del tercer dedo de la mano Epífisis triangular de la falange distal del tercer dedo del pieEpífisis triangular de la falange distal del cuarto dedo de la manoEpífisis triangular de la falange distal del cuarto dedo del pieEpífisis triangular de la falange distal del quinto dedo de la manoEpífisis triangular de la falange distal del quinto dedo del pieEpífisis triangular de la falange distal del dedo gordo del pieEpífisis triangular de la falange distal del pulgarEpífisis triangular de la falange media del segundo dedo de la manoEpífisis triangular de la falange media del segundo dedo del pieEpífisis triangular de la falange media del tercer dedo de la mano Epífisis triangular de la falange media del tercer dedo del pieEpífisis triangular de la falange media del cuarto dedo de la manoEpífisis triangular de la falange media del cuarto dedo del pieEpífisis triangular de la falange media del quinto dedo de la manoEpífisis triangular de la falange media del quinto dedo del pieEpífisis triangular de la falange proximal del segundo dedo de la manoEpífisis triangular de la falange proximal del segundo dedo del pieEpífisis triangular de la falange proximal del tercer dedo de la manoEpífisis triangular de la falange proximal del tercer dedo del pieEpífisis triangular de la falange proximal del cuarto dedo de la manoEpífisis triangular de la falange proximal del cuarto dedo del pieEpífisis triangular de la falange proximal del quinto dedo de la manoEpífisis triangular de la falange proximal del quinto dedo del pieEpífisis triangular de la falange proximal del dedo gordo del pieEpífisis triangular de la falange proximal del pulgarHúmero triangularPrimer metacarpiano en forma triangularPrimer metatarsiano en forma triangularFalanges distales de la mano en forma triangularFalanges distales del pie en forma triangularFalange distal del segundo dedo de la mano en forma triangularFalange distal del segundo dedo del pie en forma triangularFalange distal del tercer dedo de la mano en forma triangularFalange distal del cuarto dedo de la mano en forma triangularFalange distal del quinto dedo de la mano en forma triangularFalange distal del quinto dedo del pie en forma triangularFalange distal del dedo gordo del pie en forma triangularFalange distal del pulgar en forma triangularFalanges medias de la mano en forma triangularFalanges medias de los dedos de los pies en forma triangularFalange media del segundo dedo de la mano en forma triangularFalange media del segundo dedo del pie en forma triangularFalange media del tercer dedo de la mano en forma triangular

Falange media del cuarto dedo de la mano en forma triangularFalange media del quinto dedo de la mano en forma triangularFalanges del segundo dedo de la mano en forma triangularFalanges del segundo dedo del pie en forma triangularFalanges del tercer dedo de la mano en forma triangularFalanges del tercer dedo del pie en forma triangularFalanges del cuarto dedo de la mano en forma triangularFalanges del cuarto dedo del pie en forma triangularFalanges del quinto dedo de la mano en forma triangularFalanges del quinto dedo del pie en forma triangularFalanges del dedo gordo del pie en forma triangularFalanges de la mano en forma triangularFalanges de los dedos de los pies en forma triangularFalanges proximales de la mano en forma triangularFalanges proximales de los pies en forma triangularFalange proximal en forma triangular del segundo dedo de la manoFalange proximal en forma triangular del segundo dedo del pieFalange proximal en forma triangular del tercer dedo de la manoFalange proximal en forma triangular del cuarto dedo de la manoFalange proximal en forma triangular del quinto dedo de la manoFalange proximal del dedo gordo del pie en forma triangularFalange proximal del pulgar en forma triangularFalange del pulgar en forma triangularAplasia del trícepsHipoplasia del tricepsMano en tridentePulgar trifalángicoHuesos metacarpianos tubularesHipoplasia de la duodécima costillaDos centros de osificación del carpo congénitosModificación posttranscipcional del colágeno tipo 1 Braquidactilia tipo ABraquidactilia tipo A1Braquidactilia tipo A2Braquidactilia tipo BBraquidactilia tipo CBraquidactilia tipo dBraquidactilia tipo EEncurvamiento cubitalGarra cubitalDesviación cubital de las manosDesviación cubital de los dedos de la manosDesviación cubital del segundo dedo de la manoDesviación cubital del tercer dedo de la manoDesviación cubital del cuarto dedo de la manoDesviación cubital del quinto dedo de la manoDesviación cubital de la manoDesviación cubital de la mano o de los dedos de la manoDesviación cubital de la muñecaDesviación cubital del pulgar

Luxación cubital de la cabeza del radioHúmero poco modeladoHuesos del antebrazo poco modeladosHuesos de la mano poco modeladosClavículas onduladasCostillas onduladasQuiste óseo unicameralBraquidactilia unilateralHipoplasia torácica unilateralOligodactilia unilateralAplasia radial unilateralHipoplasia cubital unilateralContractura unilateral en flexión de la muñecaCuerpos vertebrales sin osificaciónDermatoglifos inusualesAmiotrofia miembro superiorAsimetría miembro superiorEnsanchamiento metafisario en miembro superiorHipoplasia muscular del miembro superiorDolor del miembro superiorPeromelia de miembro superiorFocomelia miembro superiorReducción de miembro superiorDeformidad del pie valgoMano con deformidad en valgoDeformidad en varo del cuello humeralCalcificación vascularAnomalía del arco vertebralEsclerosis cuerpo vertebralFisura vertebral - hendidura vertebralFracturas vertebrales por compresiónFusión vertebralHiperostosis vertebralHipoplasia vertebralDefecto de segmentación vertebralAcuñamiento vertebralPlatispondilia con placas-delgadasDebilidad de los músculos extensores largos de los dedos de la manoDebilidad de los músculos intrínsecos de la manoEnsanchamiento de la epífisis capital femoral Ensanchamiento de la metáfisis femoral distalEnsanchamiento de las placas epifisarias de los miembros superioresEnsanchamiento epifisiario de los miembros superioresEnsanchamiento del hueso ganchoso Ensanchamiento de la diáfisis humeralEnsanchamiento humeralEnsanchamiento de la metáfisis femoral proximalEnsanchamiento de la sínfisis púbicaEnsanchamiento de la articulación radiocubital Ensanchamiento de los penachos de las falanges distales

Ensanchamiento de la metafisis cubitalUniones costocondrales ensanchadas y en forma de copaDedos de los pies muy separadosFalanges distales ensanchadasEnsanchamiento de la distancia interpedicular Ensanchamiento del eje metacarpiano Ensanchamiento de las metáfisis femorales proximales Ensanchamiento de la metáfisis tibial proximal Ensanchamiento de la hendidura menor sacrociáticaEnsanchamiento del canal espinal cervicalEnsanchamiento de la hendidura sacrociáticaDeformidad en "golpe de viento" en las rodillasContractura en flexión de la muñecaEdema de la muñecaMetacarpianos en forma de YMetatarsianos en forma de YProcesos estiloides ausentes del radio/cúbitoArtralgia / artritisDefectos de segmentación cervicalesDefectos de segmentación de la columna cervicalFusión de articulaciones facetarias cervical mediaMontículo con forma de joroba de hueso en las partes centrales y posterior de la placa terminal vertebralIncremento de la densidad ósea de la columnaIrregularidad de la metáfisis del húmero proximalDisminución de la extensión/flexión del codoDisminución de la extensión/flexión de la rodillaAcortamiento del miembro mesomélico/rizomélico Osteomielitis que conduce a la amputación debido a la lenta curación de las fracturasCondrocalcinosis poliarticularProcesos estiloides cubitales prominentesReducción de miembro rizo-meso-acromélico

Aciduria 3-metilglutaconicaAciduria 3-metilglutáricaAciduria 3-hidroxidicarboxílicaEyaculación anormalGenitales externos anormalesPigmentación genital anormalAnormal morfología del sistema genitalMorfología anormal de células germinalesTasa de filtración glomerular anormalGenitales internos anormalesLocalización anormal de los riñonesFisiología anormal del sistema genital masculinoMorfología anormal de las células germinales masculinasAnormalidad en la diferenciación córtico-medular renalMorfología renal anormalFisiología renal anormalRugosidad escrotal anormalDeterminación del sexo anormal

Morfología anormal de los espermatozoides Motilidad anormal del esperma Espermatogénesis anormalPerfil de la acilglicina urinaria anormalColor urinario anormalConcentración de electrolitos urinarios anormalOlor de orina anormalConcentración de sulfato urinario anormalConcentración de alfa-cetoglutarato anormal en orinaConcentración anormal de cloruro en orinaConcentración anormal de citrato en orinaCitología anormal de la orinaConcentración de magnesio anormal de la orinaProducción anormal de la orinaConcentración de fosfato urinario anormalConcentración de potasio urinario anormalConcentración de sodio urinario anormalMorfología anormal de los conductos deferentesAnormalidad del cuerpo cavernosoAnormalidad de los genitales externos femeninosAnormalidad de los genitales internos femeninosAnormalidad de la fisiología genitalAnormalidad de los genitales externos masculinosAnormalidad de los genitales internos masculinosAnormalidad de la morfología del cáliz renalAnormalidad de la excreción renalAnormalidad de la reabsorción renalAnormalidad de las células de LeydigAnormalidad de la vejigaAnormalidad del clítorisAnormalidad del epidídimoAnormalidad de la trompa de FalopioAnormalidad de los genitales femeninosAnormalidad del sistema genitalAnormalidad del sistema genitourinarioAnormalidad del gloméruloAnormalidad del riñónAnormalidad de los labiosAnormalidad de los labios mayoresAnormalidad de los labios menoresAnormalidad del tracto urinario inferiorAnormalidad de los genitales masculinosAnomalía del ciclo menstrualAnormalidad de la nefronaAnormalidad del ovarioAnormalidad del peneAnormalidad del prepucioAnormalidad de la próstataAnormalidad de la arteria renalAnormalidad del sistema colector renal

Anormalidad de la corteza renalAnormalidad de la médula renalAnormalidad de la pelvis renalAnormalidad del túbulo renalAnormalidad del escrotoAnormalidad del testículoAnormalidad del tracto urinario superiorAnomalía del uracoAnormalidad del uréterAnormalidad de la uretraAnormalidad del sistema urinarioAnormalidad de la fisiología del sistema urinarioAnormalidad del cuello uterinoAnormalidad del úteroAnormalidad de la vaginaAnormalidad en la concentración de ácido úrico urinarioAnormalidad en la concentración de bicarbonato urinarioAnormalidad en la concentración de calcio urinarioAnormalidad en la concentración de catecolaminas en orinaAnormalidad de la concentración de glucosa urinariaAnormalidad de la homeostasis de la orinaAusencia de labios mayoresAusencia de diferenciación córtico-medular renalGenitales externos ausentesTejido gonadal ausenteAusencia de genitales internosEscroto ausenteUrotiona urinaria ausenteConductos deferentes ausentesEspermatozoides acéfalosAciduriaLesión renal agudaNecrosis tubular agudaNefritis tubulointersticial agudaAlbuminuriaGenitales ambiguosGenitales ambiguos, hembraGenitales ambiguos, masculinoAmenorreaAminoaciduriaAneyaculaciónFístula anoperinealGenitales desplazado anteriormenteMeato uretral desplazado anteriormenteAnuriaAplasia de la vejigaAplasia de la vagina inferiorAplasia del ovarioAplasia de los testículosAplasia de la vagina superior

Aplasia del úteroAplasia de la vaginaAplasia / hipoplasia de la vejigaAplasia / hipoplasia de la trompa de FalopioAplasia / hipoplasia del ovarioAplasia / hipoplasia de los testículosAplasia / hipoplasia de la vaginaAplasia / hipoplasia del úteroArgininuriaLeucocituria asépticaMala rotación axial del riñónAzoospermiaBacteriuriaNeoplasia benigna del tracto genitourinarioHiperplasia prostática benignaAcidosis tubular renal con perdida del bicarbonatoBicarbonaturiaÚtero bicorneEscroto bífidoÚtero bífidoCriptorquidia bilateralPielectasia fetal bilateralAgenesia renal bilateralAtrofia renal bilateralDisplasia renal bilateralHipoplasia renal bilateralCarcinoma de vejigaDivertículo vesicalExtrofia vesicalFístula de la vejigaNeoplasia de vejigaCálculos en la vejigaNefropatía c3Nefrolitiasis por calcioNefrolitiasis por oxalato de calcioNefrolitiasis por fosfato de calcio CarnosinuriaGerminoma cerebralEndometriosis cervicalExcreción urinaria de sulfato de condroitina Incurvación congénita del peneCoriocarcinomaEnfermedad renal crónicaNefritis tubulointersticial crónicaCarcinoma de células claras renalesHipertrofia del clítorisHipoplasia del clítorisClitoromegaliaAnormalidad cloacalExtrofia cloacal

Aciduria orgánica complejaAusencia congénita de prepucioMacroorquidia congénitaMegaureter congénitoNefroma mesoblástico congénitoSíndrome nefrótico congénitoVálvula uretral posterior congénitaHipospadia coronalEsclerosis cuerpo cavernosoNefrocalcinosis corticalGlomerulonefritisEctopia renal cruzada con fusiónCriptorquidiaCilindruriaCistationinuriaDisplasia renal quísticaCistinuriaCistoceleAciduria d-2-hidroxiglutáricaDisminución de la fertilidadDisminución de la fertilidad en las mujeresDisminución de la fertilidad en los hombresDisminución de la tasa de filtración glomerularDisminución en el número de nefronasDisminución de la excreción de fosfato tubular renalDisminución en la rugosidad testicular Disminución del tamaño de los testículosDisminución de potasio en la orinaDisminución del sulfato urinario Disminución del urato urinario Concentración de alfa-cetoglutarato disminuido en orinaDisminución del gasto urinarioRetraso de la menarquiaEnfermedad de depósitos densosExcreción de dermatan sulfato en orinaDiaminoaciduriaDibasicaminoaciduriaAciduria dicarboxílicaEsclerosis mesangial difusaDilatación vesicalDilatación de la pelvis renalDifaliaDesplazamiento del meato uretral externoÁcidosis tubular renal distalDuplicación del uretral distalDuplicación del sistema colector Duplicación de la pelvis renalDisgerminomaDismenorreaTestículos displásicos

DisuriaRiñón ectópicoFosfatasa alcalina elevada de origen renalCatecolaminas urinarias elevadasDopamina urinaria elevadaEpinefrina urinaria elevadaNorepinefrina urinaria elevadaPirofosfato urinario elevadoNeoplasia renal embrionariaCarcinoma endometrialAgrandamiento de los riñonesAgrandamiento de labios menores Ovarios agrandadosPene agrandadoOvarios poliquísticos agrandadosÚtero agrandadoEnuresisEnuresis diurnaEnuresis nocturnaEpididimitisEpispadiasAnomalías en la erecciónCilindruria eritrocíticaAciduria etilmalónicoMioglobinuria inducida por el ejercicioHipoplasia genital externaQuiste trompa de FalopioDuplicación trompa de FalopioTorsión trompa de FalopioGenitales externos femeninos en individuo con cariotipo 46, XYHipogonadismo en mujerInfertilidad femeninaPseudohermafroditismo femeninoMegavejiga fetalPielectasia fetalGlomeruloesclerosis focal y segmentariaAnormalidad funcional de los genitales internos masculinosAnormalidad funcional de la vejigaLabios menores fusionadosAminoaciduria generalizadaÁcidosis tubular distal generalizadoNeoplasia genitalAtresia del tracto genitalÚlceras genitalesNeoplasia de células germinalesGerminomaHipospadia glandularGlomeruloesclerosis globalTubulopatía proximal globalGlobozoospermia

GlomerulonefritisGlomerulopatíaGlomeruloesclerosisAciduria glutáricaGlucosuriaCalcificación gonadalDisgenesia gonadalDisgenesia gonadal con apariencia femenina, masculinaDisgenesia gonadal, sexo masculinoHipoplasia gonadalNeoplasia gonadalTejido gonadal inadecuado para los genitales externos o sexo cromosómicoGonadoblastomaProteinuria pesadaHematuriaHemoglobinuriaSíndrome hemolítico urémicoQuiste ovárico hemorrágicoHemosiderinuriaExcreción de heparán sulfato urinarioHistidinuriaHomocistinuriaRiñón en herraduraHidrocele testicularHidronefrosisHidrouréterHidroxiprolinuriaHipoplasia de las células de LeydigHipercalciuriaHipercloriduriaHipercitraturiaRiñones hiperecogénicosHiperglicinuriaHipogonadismo hipergonadotrópicoHiperlisinuriaHipermagnesiuriaHipermenorreaHipernatriuriaHiperoxaluriaHiperfosfaturiaHiperplasia de las células de leydigLabios mayores hiperplásicosHipertreoninuriaLabios menores hipertróficosHipertrofia de la vejiga urinariaHiperuricosuriaHipocalciuriaHipocloriduriaHipocitraturiaHipogonadismo

Hipogonadismo hipogonadotróficoHipomagnesiuriaHiponatriuriaHipofosfaturiaHipoplasia del peneHipoplasia de la vejigaHipoplasia de la trompa de FalopioHipoplasia del ovarioHipoplasia de la próstataHipoplasia del úteroHipoplasia de la vaginaGenitales externos hipoplásicos femeninos Labios mayores hipoplásicosLabios menores hipoplásicosGenitales externos masculinos hipoplásicosHipospadiasHipostenuriaDeposición en el glomérulo de igaAlteración de la absorción tubular renal de histidinaAlteración de la reabsorción de cloruroAlteración en la capacidad de concentración renal Alteración en el aclaramiento de ácido úrico renal ImpotenciaPseudohermafroditismo masculino incompletoAumento en la tasa de filtración glomerularAumento de la reabsorción tubular renal de fosfatoAumento en la rugosidad escrotalAumento del potasio urinarioAumento del sulfato urinarioAumento del sulfito urinarioAumento de la taurina urinariaAumento de tiosulfato urinarioAumento de urato urinarioAumento de la concentración de alfa-cetoglutarato en orinaInfertilidad Nefroblastomatosis intralobarRestos nefrogénicos intralobaresExcreción de keratan sulfato en orinaCetonuriaHipertrofia labialHipoplasia labialSeudohipertrofia labialAciduria lácticaCilindros leucocitariosNeoplasia de células de LeydigGlomerulopatía lobularAciduria dicarboxílicas de cadena largaSeptum vaginal longitudinalDisminución de la fosfatasa alcalina de origen renalProteinuria de bajo peso molecular

MacroorquidiaMacroorquidia pospuberalHematuria macroscópicaHipogonadismo masculinoInfertilidad masculinaPseudohermafroditismo masculinoTumor maligno del tracto genitourinarioAciduria dicarboxílica de cadena mediaNefrocalcinosis medularMegacalicosisMegavejigaGlomerulonefritis membranoproliferativaNefropatía membranosaMenorragiaIrregularidades menstrualesAnormalidad mesangialProliferación mesangialAciduria metilmalónicaMetrorragiaMicroalbuminuriaMicropeneHematuria microscópicaNefrocalcinosis microscópicaHipospadias perinealesProteinuria leveGlomerulonefritis de cambios mínimosProteinuria moderadaMucopolisacariduriaDisplasia renal multiquísticaSíndrome nefrótico resistente a múltiples fármacosDivertículos múltiple en la vejigaMúltiples quistes glomerularesQuistes renales múltiplesMúltiples quistes renales medulares pequeñosMioglobinuriaNeoplasia de los genitales externos masculinosNeoplasia del peneNeoplasia del escrotoNeoplasia del tracto genitourinarioNeoplasia del uréterNeoplasia de la uretraNefritisNefroblastoma (tumor de wilms)NefroblastomatosisNefrocalcinosisRestos nefrogénicosLitiasis renalNefronoptisisNefropatíaNefroptosis

NefroesclerosisProteinuria en rango nefróticoSíndrome nefróticoVejiga neurogénicaHiperaminoaciduria neutralNicturiaTubulopatía proximal no acidóticoAzoospermia no obstructivaEspermatozoides inmóvilesAzoospermia obstructivaOligomenorreaOligospermiaOliguriaOrquitisAciduria orgánicaOrnitinuriaQuiste ováricoFibroma ováricoGonadoblastoma ovaricoNeoplasia de ovarioAdenocarcinoma papilar de ovarioCistoadenoma seroso de ovarioTeratoma ováricoSobrecrecimiento de los genitales externosOvotestesCistoadenoma papilar del epidídimoCarcinoma papilar de células renalesCarcinoma papilar de células renales de tipo 1Carcinoma papilar de células renales de tipo 2ParafimosisAumento de la reabsorción tubular renal de calcio parathormona-independienteHemoglobinuria paroxística nocturnaDesarrollo parcial del cuerpo del peneTabique vaginal parcialRiñón parcialmente duplicadoUraco persistenteRiñón pélvicoHipospadias peneanasHipospadias penoescrotalTransposición penoescrotalNefroblastomatosis perilobularRestos nefrogénicos perilobularesFístula perinealHipospadias perinealesPerinefritisCloaca persistenteFimosisFosfoetanolaminuriaPoliaquiuriaDisplasia renal poliquística

Ovarios poliquísticosPoliuriaMenopausia precozPubertad precoz con tumor de células de SertoliEyaculación precozInsuficiencia ovárica prematuraTeratoma presacroAzoospermia pretesticularPriapismoAmenorrea primariaFalla ovárica primariaFalla testicular primariaProlinuriaBarra mediana prostática prominenteRafe escrotal prominenteCáncer de próstataNeoplasia de próstataProstatitisProteinuriaÁcidosis tubular renal proximalTubulopatía proximalPielonefritisPiuriaFístula rectalRectoceleFístula rectoperinealFístula rectovaginalCistitis recurrenteMioglobinuria recurrentePielonefritis recurrenteInfecciones del tracto urinario a repeticiónReducción en la relación aclaramiento de calcio renal sobre aclaramiento de creatininaReducción de la diferenciación cortico-medular renalReducción de la movilidad del espermaSíndrome de fanconi renalAgenesia renalAminoaciduria renalAmiloidosis renalAngiomiolipoma renalEstenosis de la arteria renalAtrofia renalPérdida renal de calcioCarcinoma de células renalesPérdida renal de cloroAdenoma renal corticalAtrofia cortical renalQuistes corticales renalesMicroquistes corticales renalesQuistes renales corticomedularesQuiste renal

Divertículo renalDuplicación renalDisplasia renalHamartoma renalHipoplasia renalHipoplasia renal / aplasiaInsuficiencia renalHipertrofia / hiperplasia de las células renales yuxtaglomerularesPerdida renal de magnesioMalrotación renalNeoplasia renalOncocitoma renalCarcinoma de la pelvis renalPerdida renal de fosfatoPerdida de potasio urinarioPerdida renal de sal Sarcoma renalPerdida renal de sodioEsteatosis renalAcidosis tubular renalDisfunción renal tubularDefecto en el transportador renal tubular de lisinaDisgenesia renotubularHipertensión renovascularEyaculación retardadaTestículo retráctilEyaculación retrógradaInsuficiencia renal reversibleHiperpigmentación escrotalHipoplasia escrotalHipospadias escrotalAmenorrea secundariaVagina septadaNeoplasia de células de SertoliSexo reversoEscroto en chalDivertículo vesical solitarioQuiste renal solitarioVejiga espástica/hiperactivaAnomalía de la cabeza del espermatozoideAnomalía del segmento medio del espermatozoideAnomalía cuello del espermatozoideAnomalía en la cola de los espermatozoidesEnfermedad renal crónica estadio 1Enfermedad renal crónica estadio 2Enfermedad renal crónica estadio 3Enfermedad renal crónica estadio 4Enfermedad renal crónica estadio 5Síndrome nefrótico resistente a esteroidesEstría ovárica

Incontinencia urinaria de esfuerzoTestículos supernumerariosTeratomaAtrofia testicularDisgenesia testicularFibrosis testicularGonadoblastoma testicularMesotelioma testicularMicrolitiasis testicularNeoplasia testicularSeminoma testicularTeratoma testicularTorsión testicularEngrosamiento de la membrana basal glomerularMembrana basal glomerular delgadaAminoaciduria transitoriaSíndrome nefrótico transitorioCarcinoma de células transicionales de la vejigaTabique vaginal transverso TrimetilaminuriaHermafroditismo verdaderoTriptofanuriaAtrofia tubularDesintegración de la membrana tubular basal Anormalidad tubulointersticialFibrosis tubulointersticial Nefritis tubulointersticialCriptorquidia unilateralAgenesia renal unilateralAtrofia renal unilateralDisplasia renal unilateralHipoplasia renal unilateralQuiste del uracoFístula del uracoDuplicación del uréterDuplicación y fusión del uréterAgenesia ureteralAtresia ureteralDuplicación ureteralDisgenesia ureteralObstrucción ureteralEstenosis ureteralTriplicación ureteralUreteroceleObstrucción de la unión ureteropélvicaEstenosis ureterovesicalAtresia uretralAtresia uretral, hembraAtresia uretral, hombreDivertículo uretral

Fístula uretralObstrucción uretralEsclerosis del esfínter uretralEstenosis uretralEstenosis ureteral asociada a cicatrices o infeccionesVálvula uretralUretroceleFístula uretrovaginalNefrolitiasis por ácido úricoUrolitiasis por ácido úrico independiente de gotaInflamación de la vejiga urinariaDisfunción del esfínter vesicalExcreción urinaria de glucosaminoglucanosDificultad para la micciónIncontinencia urinariaRetención urinariaAtresia de las vías urinariasNeoplasias del tracto urinarioUrgencia urinariaFístula urogenitalAnomalía del seno urogenitalLeiomioma uterinoLeiomiosarcoma uterinoNeoplasia uterinaProlapso uterinoRuptura uterinaÚtero didelfoAtresia vaginalFístula vaginalHematocele vaginalHernia vaginalHidrocele vaginalLinfocele vaginalNeoplasia vaginalPiocele vaginalVaricocele vaginalTestículo evanescenteVaricoceleAcortamiento ventral del prepucioReflujo vesicoureteralFístula vesico-vaginalNefrolitiasis xantina

Aciduria 4-hidroxifenilacéticaAciduria 4-hidroxifenilpirúvicaAbetalipoproteinemiaActividad anormal de la cadena respiratoria mitocondrial Nivel de albúmina anormalNivel de aldolasa anormalHomeostasis del colesterol anormal

Nivel de creatinina circulante anormalGasto de energía anormalActividad anormal de la enzima/coenzimaFucosilación anormal por o-glicosilación de proteínasFucosilación anormal por n-glicosilación de proteínasHomeostasis anormal de la glucosaTolerancia anormal a la glucosaGlicosilación anormalHomeostasis anormalDepósito anormal de hierro mitocondrialEnfoque isoeléctrico anormal de la transferrina séricaManosilación anormal de n-glicosilación de proteínasMitocondrias anormales en el tejido muscularMorfología mitocondrial anormalNúmero anormal de mitocondriasForma mitocondrial anormalTolerancia oral a la glucosa anormal - alteradaO-glicosilación anormal de proteínasN-glicosilación anormal de proteínasGlicosilación anormal de proteínas Sialilación anormal de n-glicosilación de proteínasSialilación anormal de o-glicosilación de proteínasAnormalidad de la reparación del ADNAnormalidad del metabolismo de la acetilcarnitinaAnormalidad en la homeostasis ácido-baseAnormalidad de la homeostasis ácido-baseAnomalía del metabolismo de la alaninaAnormalidad de la actividad de la fosfatasa alcalinaAnomalía del metabolismo de aminoácidosAnomalía del metabolismo de la argininaAnomalía del metabolismo de la familia de aminoácidos aromáticosAnomalía del metabolismo de aminoácidos de la familia del aspartatoAnormalidad de la concentración de glucosa en la sangreAnomalía del metabolismo de los aminoácidos de cadena ramificada Anormalidad de la homeostasis del calcioAnormalidad del metabolismo del calcio-fosfatoAnomalía del metabolismo/homeostasis de los hidratos de carbonoAnormalidad del metabolismo del ácido carboxílicoAnomalía del metabolismo de la carnitinaAnormalidad de la homeostasis de cationesAnormalidad de la fisiología celularAnormalidad del metabolismo de la cerebrosidasaAnormalidad de la homeostasis del cloruro Anormalidad del metabolismo del colesterolAnormalidad de la condensación cromosómicaAnormalidad de la segregación cromosómicaAnormalidad de la estabilidad cromosómicaAnormalidad del nivel enzimático circulante Anormalidad del nivel de proteínas circulantes Anormalidad en el metabolismo de la citrulina

Anomalía de la homeostasis del cobreAnomalía del metabolismo de la creatinaAnomalía del metabolismo de la cisteínaAnomalía del metabolismo del ácido dicarboxílicoAnomalía de la homeostasis de cationes divalentes inorgánicosAnomalía del metabolismo de aniones de ácidos grasosAnomalía del metabolismo de los ácidos grasosAnomalía de la regulación de fluidosAnomalía del metabolismo del ácido fólicoAnomalía del metabolismo galactosidoAnomalía del metabolismo de gangliósidosAnomalía del metabolismo de los aminoácidos de la familia glutaminaAnomalía del metabolismo de la glutaminaAnomalía del metabolismo de la glicinaAnomalía del metabolismo de glicolípidosAnomalía de la glucólisisAnomalía del metabolismo de la glicoproteínaAnomalía del metabolismo de glicosaminoglicanosAnomalía del metabolismo glucósidoAnomalía del metabolismo de los glicoesfingolípidosAnomalía del metabolismo de los aminoácidos de la familia histidinaAnomalía del metabolismo de la histidinaAnomalía del metabolismo de la homocisteínaAnomalía de la homeostasis de ionesAnomalía de la homeostasis del hierroAnomalía del metabolismo de la isoleucinaAnomalía del metabolismo de la leucinaAnomalía del metabolismo de los lípidosAnormalidad del metabolismo liposacáridoAnomalía del metabolismo de los ácidos grasos de cadena largaAnomalía del metabolismo de la lisinaAnomalía del metabolismo lisosomalAnomalía de la homeostasis del magnesioAnomalía del metabolismo / homeostasisAnomalía del metabolismo de la metioninaAnomalía del metabolismo mitocondrialAnomalía del metabolismo de los ácidos monocarboxílicosAnomalía de la homeostasis de cationes monovalentes inorgánicosAnomalía del metabolismo de mucopolisacáridosAnormalidad de la homeostasis de compuestos nitrogenados Anomalía del metabolismo de base nitrogenadaAnomalía del metabolismo de la ornitinaAnomalía del metabolismo del ácido oróticoAnomalía del metabolismo de la fenilalaninaAnomalía de la homeostasis del fosfatoAnomalía del metabolismo del ácido fitánicoAnomalía del metabolismo de polisacáridosAnomalía de la homeostasis de potasioAnomalía del metabolismo de la prolinaAnomalía del metabolismo de las prostaglandinas

Anomalía del metabolismo de proteoglicanosAnomalía del metabolismo de las purinasAnomalía del metabolismo de las pirimidinasAnomalía del metabolismo de aminoácidos familia piruvatoAnomalía del metabolismo de la sarcosinaAnomalía del metabolismo de los aminoácidos de la familia de serinaAnomalía del metabolismo de la serinaAnomalía de los niveles de aminoácidos en sueroAnomalía de la homeostasis de sodioAnomalía del metabolismo de aminoácidos sulfúricosAnomalía del metabolismo de superóxidoAnomalía de regulación de la temperaturaAnomalía del ciclo celularAnomalía de la ruta de biosíntesis del hemoAnomalía del sistema calicreína-quinina-Anomalía del nivel de colesterol de las lipoproteínasAnomalía de la mitocondriaAnomalía del metabolismo de la vitamina b12Anomalía del metabolismo de la vitamina b3Anomalía del metabolismo de treoninaAnomalía de la homeostasis del elemento de transición catiónicoAnomalía del metabolismo del triptófanoAnomalía del metabolismo de la tirosinaAnomalía del metabolismo de los ácidos grasos insaturadosAnomalía del metabolismo de la valinaAnomalía del metabolismo de la vitamina aAnomalía del metabolismo de la vitamina bAnomalía del metabolismo de la vitamina cAnomalía del metabolismo de la vitamina dAnomalía del metabolismo de la vitamina eAnomalía del metabolismo de la vitamina kAnomalía del metabolismo de las vitaminasAnomalía del metabolismo de la xantinaAnomalía de la homeostasis del zincFosfatasa alcalina de leucocitos ausenteAcidosisHiperamonemia agudaAcidosis respiratoria agudaDeficiencia de aldehído oxidasaAlcalosisAmiloidosisAnasarcaAspartilglucosaminuriaHiperamonemia asintomáticaAtransferrinemiaHiperfenilalaninemia atípicaAzotemiaMetacromasia celularAngiopatía amiloide cerebralRotura cromosómica inducida por agentes de reticulación

Rotura cromosómica inducida por la radiación ionizanteAcidosis crónicaAcidosis láctica crónicaAcidosis metabólica crónicaAcidosis respiratoria crónicaHiperlipidemia combinadaAcidosis láctica congénitaHiperbilirrubinemia conjugadaAcumulación intracelular curvilínea del material de almacenamiento de lipopigmento autofluorescenteAmiloidosis cutáneaCistationinemiaDisminución de la actividad de la nadph oxidasaDisminución de la actividad del complejo de la atp sintasa mitocondrialDisminución de la actividad del complejo i mitocondrialDisminución de la actividad del complejo ii mitocondrialDisminución de la actividad del complejo iii mitocondrialDisminución de la actividad del complejo iv mitocondrialDisminución de la actividad de la cadena respiratoria mitocondrialDisminución de la actividad del complejo de la piruvato deshidrogenasa (pdh)Disminución de adenosilcobalaminaDisminución de la actividad de la beta-galactosidasaDisminución de la proteína y la actividad beta-glucocerebrosidasaDisminución de la fucosilación de n-glicosilación de la proteína ligadaDisminución de la fucosilación de o-glicosilación de proteínas vinculadasDisminución de la actividad fumarato hidratasaDisminución de la galactosilación de n-glicosilación de la proteína ligadaDisminución de la actividad isomerasa glucosafosfatoDisminución de manosilación unida a n-glicosilación de proteínasDisminución de la actividad de la sintasa de metioninaDisminución de la metilcobalaminaDisminución de la actividad mutasa metilmalonil-coaCarnitina plasmática disminuidaCarnitina libre plasmática disminuidaDisminución total de carnitina plasmáticaDisminución de los niveles de purinaActividad de la piruvato carboxilasa disminuidaDisminución del gasto energético en reposoCeruloplasmina en suero disminuidaDisminución de la creatinina séricaDisminución de la ferritina en suero Disminución de la sialilación de n-glicosilación de la proteína ligadaDisminución de la sialilación de o-glicosilación de proteínas vinculadasDisminución de la saturación de la transferrinaReparación del ADN defectuoso después de daño por radiación ultravioletaDeshidrogenación defectuosa de isovaleril coa y butiril coaDeficiencia de n-acetilglucosamina-1-fosfotransferasaDeficiencia o ausencia de citocromo b (-245)Escisión deficiente de los dímeros de pirimidina inducidos por UV en el ADNDeshidrataciónRetraso en la oxidación de acetaldehído

EdemaEdema del dorso de los piesEdema del dorso de las manosEdema de los miembros inferioresEdema de los miembros superioresDefecto de la transferencia de electrones de la oxidoreductasa flavoproteína ubiquinona7-dehidrocolesterol elevado8 (9)-colestenol elevado8-dehidrocolesterol elevadoNivel elevado de proteína c-reactivaNivel de aldolasa elevadaFosfatasa alcalina elevadaFosfatasa alcalina elevada de origen óseoFosfatasa alcalina elevada de origen hepáticoAlfafetoproteína elevadaAlfafetoproteína elevada en líquido amnióticoCalcitonina elevadaCreatina quinasa elevada después del ejercicioVelocidad de sedimentación globular elevadaConcentración de hierro hepático elevadaFosfatasa alcalina intestinalCistina intracelular elevadaFosfatasa alcalina leucocitaria elevadaNiveles elevados de ácido fitánicoÁcidos grasos de cadena larga elevadosAlfa-fetoproteína en suero materno elevadaFosfatasa alcalina placentaria elevadaAminoácidos plasmáticos de cadena ramificada elevadosCitrulina plasmática elevadaPirofosfato plasmático elevadaFosfatasa ácida sérica elevadaCreatina fosfoquinasa elevadaCreatinina sérica elevadaCloruro en sudor elevadoFosfatasa alcalina tisular no específica elevadaSaturación de transferrina elevadaÁcido delta-aminolevulínico urinario elevadoÁcido homovaníllico urinario elevadoÁcido vanililmandélico urinario elevadoEndopoliploidia en estudios cromosómicos de médula óseaIntoxicación episódica por amoníaco Fiebre episódicaHipocalemia episódicaCetoacidosis episódicaAcidosis metabólica episódicaProducción excesiva de purinaAcidemia láctica inducida por el ejercicioFiebreMetacromasia en fibroblastosAcumulación intracelular de material de almacenamiento lipopigmento autofluorescente

Deficiencia de folatoSitio frágil en Xq28 folato dependienteIntolerancia alimentariaIntolerancia a la fructosaAcumulación de gangliósido-gm2Intolerancia a la galactosaGalactosuriaGangrenaDepósito de amiloide generalizadoEdema generalizadoIntolerancia a la glucosaAcidemia glutáricaDeficiencia de glutatión sintetasaIntolerancia al glutenGlicopeptiduriaDeficiencia de glioxalaseDepósitos granulares osmiofilicos (grod) en las célulasIntolerancia al calorCobre sérico unido a nonceruloplasmina elevadoHidroxiprolinemiaHiperalaninemiaHiperalbuminemiaHiperalfalipoproteinemiaHiperamonemiaHiperapobetalipoproteinemiaHiperbetaalaninemiaHiperbetalipoproteinemiaHiperbilirrubinemiaHipercalcemiaHipercloremiaAcidosis hiperclorémicaHipercolesterolemiaHiperquilomicronemiaHipergalactosemiaHiperglutaminemiaHiperglucemiaHiperglicinemiaHiperhistidinemiaHiperhomocistinemiaHiperisoleucinemiaHiperpotasemiaAcidosis metabólica hipercalémicaHiperleucinemiaHiperlipidemiaHiperlipoproteinemiaHiperlisinemiaHipermagnesemiaHipermetioninemiaHipernatremiaHiperornitinemia

Hiperpepsinogenemia HiperfenilalaninemiaHiperfosfatemiaHiperprolinemiaHiperprostaglandinuriaHiperproteinemiaHipersarcosinemiaHipersarcosinuriaHipertreoninemiaDeshidratación hipertónicaHipertrigliceridemiaHipertirosinemiaHiperuricemiaHipervalinemiaHipoalbuminemiaHipoalfalipoproteinemiaHipoamonemiaHipoargininemiaHipobetalipoproteinemiaHipocalcemiaHipocloremiaAlcalosis metabólica hipoclorémicaHipocolesterolemiaHipocupremiaHipoglucemiaHipoglicinemiaHipopotasemiaAlcalosis hipocalémicaAlcalosis metabólica hipopotasémicaHipoglucemia hipocetósicaHipolipoproteinemiaHipomagnesemiaHipometioninemiaHiponatremiaHipofosfatemiaHipoproteinemiaEdema hipoproteinémicoHiposerinemiaHipotermiaHipotrigliceridemiaHipouricemiaGluconeogénesis alteradaSensibilidad térmica alteradaDeterioro del metabolismo de la fructosaDeterioro del metabolismo de la galactosaAumento de nitrógeno ureico en sangre (bun)Aumento de la sensibilidad celular a la luz ultravioletaAumento de circulación de colesterol de lipoproteínas de muy baja densidadAumento de la concentración de protoporfirina eritrocitariaAumento de la fucosilación de n-glicosilación de la proteína ligada

Aumento de la fucosilación de o-glicosilación de la proteína ligadaAumento de sodio intracelularAumento de manosilación de n-glicosilación de la proteína ligadaAumento fosforribosilpirofosfato (prpp) sintetasaAumento de los niveles de purinaAumento de velocidad de condensación prematura de cromosomasAumento del gasto energético en reposoAumento de la sensibilidad a la radiación ionizanteAumento de suero beta-hexosaminidasaAumento de ferritina séricaActividad en suero aumentada de iduronato sulfatasaAumento de hierro séricoAumento de lactato séricoAumento de la prostaglandina E2 de sueroAumento de piruvato séricoAumento de niveles séricos de zincAumento de la sialilación de n-glicosilación de la proteína ligadaSusceptibilidad aumentada a intercambio de cromátides hermanasAumento de la bilirrubina totalAumento de sialopeptidos urinarios o-ligados Aumento de la concentración urinaria de cobreAumento de la excreción urinaria de disacáridoAumento de hipoxantina urinariaAumento de porfobilinógeno urinarioHipercalcemia infantilInsensibilidad a la insulinaResistencia a la insulinaHipotermia intermitenteAcidemia láctica intermitenteIntolerancia a la proteínaAcumulación de material de almacenamiento intraaxonal lipopigmento autofluorescente curvilíneaAcumulación intracelular de material de almacenamiento lipopigmento autofluorescenteCetoacidosisCetosisHipoglucemia cetósicaAcidosis lácticaLipedemaDeficiencia de cadena larga 3 hidroxiacil coa deshidrogenasaFosfatasa alcalina bajaFosfatasa alcalina de origen óseo bajaFosfatasa alcalina de origen hepático bajaBajas tasas de esterificación del colesterolFosfatasa alcalina intestinal bajaFosfatasa alcalina placentaria bajaCitrulina plasmática bajaCalcifediol sérico bajo (25-hidroxicolecalciferol)Calcitriol sérico bajo (1,25-dihidroxicolecalciferol)Fosfatasa alcalina tisular no específica bajaFiebre bajaLinfedema

Mala absorción de vitamina b12Hipertermia malignaAcidosis metabólicaAlcalosis metabólicaCetoacidosis metabólicaAcidemia metilmalónicaCreatina fosfoquinasa ligeramente elevadaDefecto del transportador de lisina mitocondrialEnzima málico mitocondrial reducidaDefecto mitocondrial de propionil-coa carboxilasa (pcc) Defectos de la cadena respiratoria mitocondrialAcidosis respiratoria y metabólica mixtaDeficiencia de cofactor de molibdenoEdema muscularHiperbilirrubinemia neonatalHipoglucemia neonatalHipoproteinemia neonatalHiperbilirrubinemia no conjugada neonatal Hiperglicinemia no cetósicaHipoglucemia no cetósicaOligosacariduriaCristaluria de ácido oróticoOroticaciduriaEdema periféricoAcidosis láctica persistenteAcidemia fenilpirúvicaPorfirinuriaPrueba de cloruro férrico positiva Hiperglucemia postprandialHiperlactemia postprandialLinfedema del miembro inferior predominantementeSeparación de cromátidas prematuraSeparación de la heterocromatina centromérica prematuraFase G2 del ciclo celular prolongadoPropionicacidemiaDeficiencia de propionil-coa carboxilasaEdema pulmonarHipoglucemia reactivaAcumulación intracelular rectilínea de material de almacenamiento de lipopigmento autofluorescenteHipoglucemia recurrenteHipoglucemia infantil recidivanteReducción de la actividad de 4 hidroxifenilpiruvato dioxigenasaReducción de la actividad de n-ii acetilglucosaminiltransferasaReducción del nivel de aldolasaReducción de la actividad de carnitin o-palmitoitransferasaReducción de la actividad de la catalasaConcentración reducida de 5-metiltetrahidrofolato en líquido cefalorraquídeo Reducción de la actividad dihidropirimidina deshidrogenasa Reducción de fosfatasa alcalina de leucocitosActividad reducida de orotidina 5-prima fosfatasa descarboxilasa

Actividad reducida de fenilalanina hidroxilasa Globulina transportadora de tiroxina reducidaReducción de la actividad de la xantina deshidrogenasa Hipofosfatemia renalAcidosis respiratoriaAlcalosis respiratoriaAcidosis láctica severaEstrés / acidosis láctica inducida por la infecciónDeficiencia de sulfito oxidasaInestabilidad en la temperaturaHiperlipidemia transitoriaHiperfenilalaninemia transitoriaHipofosfatemia transitoriaPerfil de isoforma de transferrina tipo iPerfil de isoforma de transferrina tipo iiHiperbilirrubinemia no conjugadaFiebre inexplicableUraciluriaExcreción urinaria de oligosacáridos sialisadosAciduria urocánicaAcumulación de ácidos grasos de cadena muy largaDeficiencia de vitamina aDeficiencia de vitamina b1Deficiencia de vitamina b12Deficiencia de vitamina b2Deficiencia de vitamina b3Deficiencia de vitamina b5Deficiencia de vitamina b6Deficiencia de vitamina b8Deficiencia de vitamina cDeficiencia de vitamina dDeficiencia de vitamina eDeficiencia de vitamina kXantinuriaAcidosis metabólica hiperclorémicaDeshidratación hipernatrémicaAlcalosis metabólica hipocalemica hipoclorémicaAumento de la concentración de ácidos biliares en sueroAumento de la concentración de ácidos biliares en suero durante el embarazo

Taquicardia intranodalTaquicardia nodal avAneurisma de la aorta abdominalEctopia cordis abdominalECG anormalSegmento ST anormalLocalización anatómica anormal del corazónRearreglo anormal atrialConducción atrioventricular anormalConexión atrioventricular anormal

Patrón de ramificación anormal del arco aórticoConexión anormal de los segmentos cardíacosRecorrido anormal de la arteria coronaria Dirección anormal del ápice del ventrículoEcocardiograma anormalElectrofisiología anormal del origen del nodo sinusalOrigen anormal de las arterias coronariasOrientación espacial anormal de los segmentos cardíacosLlenado ventricular anormalConexión ventrículo-arterial anormalAnomalías de las arterias periféricasAnomalía de la circulación sanguíneaAnomalía de la homeostasis del volumen sanguíneoAnomalía de la aurícula cardíacaAnomalía de la morfología cardíacaAnomalía del ventrículo cardíacoAnomalía de la fisiología del sistema cardiovascularAnomalía del flujo sanguíneo del ductus venosoAnomalía de la aortaAnomalía del arco aórticoAnomalía de la válvula aórticaAnomalía del tabique auricularAnomalía de las válvulas auriculoventricularesAnomalía de los tabiques cardíacosAnomalía del sistema cardiovascularAnomalía de las arterias carótidasAnomalía de la arteria celíacaAnomalía de las arterias coronariasAnomalía del seno coronarioAnomalía del endocardioAnomalía del sistema cardiovascular fetalAnomalía de las válvulas del corazónAnomalía del ventrículo izquierdoAnomalía del tracto de salida del ventrículoAnomalía de la válvula mitralAnomalía del miocardioAnomalía del pericardioAnomalía de la arteria pulmonarAnomalía de la válvula pulmonarAnomalía de la vasculatura pulmonarAnomalía de las venas pulmonaresAnomalía del ventrículo derechoAnomalía del árbol arterial sistémicoAnomalía de la válvula tricúspideAnomalía de la vasculaturaAnomalía de la vena cavaAnomalía del tabique ventricularVálvula pulmonar ausenteNodo auriculoventricular ausenteConexión auriculoventricular izquierda ausente

Arteria pulmonar ausenteConexión auriculoventricular derecha ausenteVena cava superior derecha ausenteAterosclerosis aceleradaAgenesia de vasos pulmonaresConexión auriculoventricular ambiguaCardiomiopatía amiloideAneurismaAneurisma de una arteria abdominalAngina de pechoRamas anómalas de la arteria carótida internaOrigen anómalo de la arteria coronaria desde arteria pulmonarOrigen anómalo de la arteria coronaria izquierda desde la arteria pulmonarOrigen anómalo de la arteria pulmonar izquierda desde la aorta ascendenteOrigen anómalo de una arteria pulmonar desde la aorta ascendenteOrigen anómalo de la arteria coronaria derecha de la arteria pulmonarOrigen anómalo de la arteria pulmonar derecha desde la aorta ascendenteRetorno venoso pulmonar anómaloAneurisma aórticoAterosclerosis aórticaDilatación aórticaDisección aórticaRegurgitación aórticaDilatación de la raíz aórticaTortuosidad aórticaAtresia de la válvula aórticaEstenosis de la válvula aórticaTúnel aorto-ventricularVentana aortopulmonar Defecto septal ventricular muscular apicalHemangiomatosis aracnoideaArritmiaEnfermedad arterial de miembros inferioresDisección arterialDisplasia fibromuscular arterialFibrosis de la íntima arterialEstenosis arterialTortuosidad arterialArterioesclerosisFístula arteriovenosaFístulas arteriovenosas de los vasos mesentéricos y celíacosMalformación arteriovenosaArteritisAneurisma aórtico ascendenteDilatación aórtica ascendenteDisección aórtica ascendenteHipertrofia septal asimétricaAteromatosisAteroesclerosisCardiomiopatía auricular

Fibrilación auricularAleteo auricularTaquicardia por reentrada auricularAneurisma septal atrialSitus auricular ambiguoSitus inversus atrialBloqueo auriculoventricularDefecto del canal atrioventricularDefecto del canal atrioventricular con aorta ventricular derecha y atresia pulmonarDisociación auriculoventricularTaquicardia auricular automáticaEndocarditis bacterianaVálvula aórtica bicúspideVálvula pulmonar bicúspideCortocircuito (shunt) bidireccionalEctopia ventricular bidireccionalDuctus arterioso bilateralVena cava superior con vena cabalgada bilateralVena cava superior sin vena cabalgada bilateralCorazón biventricular con cabalgamiento entre la válvula atrioventricular derecha parcial y ausencia de conexión atrioventricular del lado izquierdoHipertrofia biventricularMiocardiopatía no compactada biventricularBradicardiaSíndrome de Budd-ChiariBloqueo de ramaEstenosis de la válvula aórtica calcificadaHemangiomas capilaresParo cardíacoDivertículo cardiacoFibroma cardíacoHemangioma cardiacoMixoma cardíacoRabdomioma cardíacoCortocircuito (shunt) cardíacoTeratoma cardiacoConexión anómala total de venas pulmonares cardiacasCardiomegaliaMiocardiopatíaAneurisma de la arteria carótidaDisección de la arteria carótidaOclusión de la arteria carótidaEstenosis de la arteria carótidaTortuosidad de la arteria carótidaSíncope del seno carotídeoHemangioma cavernosoHemangioma cavernoso de la caraAneurisma de la arteria celíacaCompresión de la arteria celíacaArco aórtico cervicalEctopia cordis cervical

Taquicardia auricular multifocal caóticaQuilopericardioVelo anterior hendido de la válvula mitralCoartación de aorta abdominalCoartación de aortaCoartación del arco aórtico descendenteAtrio comúnDisección de la arteria carótida comúnOrigen común del tronco braquiocefálico derecho y la arteria carótida común izquierdaDefecto del canal atrioventricular completoAusencia completa de pericardio diafragmáticoBloqueo cardíaco completo con complejos rs ampliosBloqueo cardíaco completo con complejos qrs estrechosAusencia completa de pericardio del lado izquierdo Ausencia completa de pericardio del lado derechoMiocardiopatía hipertrófica concéntricaDisociación auriculoventricular congénitaDefecto congénito del pericardioHipertrofia congénita del ventrículo izquierdoMalformaciones congénitas de las grandes arteriasMalformación congénita del corazón derechoEstenosis mitral congénitaCortocircuito (shunt) venoso portosistémico congénitoDefecto septal congénitoTransposición corregida de las grandes arteriasTransposición corregida de las grandes arterias con comunicación interventricularCardiomiopatía congestivaInsuficiencia cardíaca congestivaDefecto conotruncalPericarditis constrictivaCor pulmonaleCor triatriatrumCor triatriatum dexterEnfermedad de la arteria coronariaFístula de la arteria coronariaEstenosis de la arteria coronariaAterosclerosis coronariaDefecto septal atrial del seno coronario Divertículo del seno coronarioVálvulas auriculoventriculares criss-crossVálvulas auriculoventriculares criss-cross con ventrículos superior-inferiorNecrosis quística de la mediaNecrosis quística de la media de la aortaDefecto en el tabique auricularAneurisma de aorta descendenteDisección aórtica descendenteDextrocardiaDilatación de la aorta abdominalDilatación del arco aórticoDilatación de la aorta ascendente

Dilatación de la aorta torácica descendenteMiocardiopatía dilatadaConexión atrioventricular discordanteAneurisma disecante de la aortaArco aórtico dobleDoble conexión auriculoventricular de entradaDoble entrada ventricular izquierdaDoble entrada ventricular derechaEntrada doble al ventrículo único de morfología indeterminadaEntrada doble al ventrículo único con orificio atrioventricular comúnEntrada doble al ventrículo único con dos válvulas auriculoventricularesOrificio de la válvula mitral dobleDoble salida del ventrículo izquierdoDoble salida del ventrículo derechoDoble salida ventricular derecha con doblemente comprometida defecto septal ventricular y estenosis pulmonarDoble salida ventricular derecha con doblemente comprometida defecto septal ventricular sin estenosis pulmonarDoble salida ventricular derecha con la no-comprometida defecto septal ventricular y estenosis pulmonarDoble salida ventricular derecha con la no-comprometida defecto septal ventricular sin estenosis pulmonarDoble salida ventricular derecha con comunicación interventricular subaórtica y estenosis pulmonarDoble salida ventricular derecha con comunicación interventricular subaórtica sin estenosis pulmonarDoble salida ventricular derecha con comunicación interventricular subpulmonar y estenosis pulmonarDoble salida ventricular derecha con subpulmonar defecto septal ventricular sin estenosis pulmonarVálvula aórtica displásicaVálvula pulmonar displásicaAnomalías de la onda T en el ECGInversión de la onda T en el ECGAnomalía de Ebstein de la válvula tricúspideEctopia cordisRitmos supraventriculares ectópicosTaquicardias ventriculares polimórficas inducida por esfuerzoPresión arterial diastólica elevadaPresión arterial media elevadaPresión arterial pulmonar elevadaPresión de la aurícula derecha elevadaPresión arterial sistólica elevadaFibroelastosis endocardialFibrosis endocárdicaEndocarditisEpisodios de taquicardia ventricularHipertensión episódicaTaquicardia supraventricular episódicaDisección de la arteria carótida externaDisección de la arteria carótida interna extracranealDivertículo cardiaco fibrosoBloqueo auriculoventricular de primer gradoCélulas espumosasCélulas espumosas en órganos viscerales y SNCCélulas espumosas con cuerpos de inclusión lamelaresNecrosis focal de las células del músculo del ventrículo derechoAneurisma de aorta torácica descendente fusiforme

Tortuosidad arterial generalizadaDefecto septal ventricular tipo Gerbode Hemangioma glabelarDisfunción sistólica globalArteritis coronaria granulomatosaEl bloqueo cardíacoHemangiomaHemangiomatosisHemopericardioInsuficiencia cardíaca congestiva de alto rendimiento HipertensiónHipertensión asociada a feocromocitomaCrisis hipertensivaMiocardiopatía hipertróficaHipervolemiaHipoplasia del ventrículo derechoArco aórtico hipoplásicoCorazón hipoplásicoAtrio izquierdo hipoplásicoCorazón izquierdo hipoplásicoVenas pulmonares hipoplásicosCorazón derecho hipoplásicoVálvula tricúspide hipoplásicaHipotensiónHipovolemiaDeterioro de la función ventricular izquierdaDeterioro de la contractilidad miocárdicaVálvula atrioventricular imperforadaVálvula tricúspide imperforadaAumento de la íntima de la arteria carótida de espesor medioAumento de la prevalencia de la enfermedad valvularAumento de la resistencia vascular pulmonarAneurisma de la arteria mesentérica inferiorArteriopatía inflamatoriaVena cava superior infra-aórtica Conexión infracardiaca anómala total de venas pulmonares Defecto septal ventricular del veloDefecto del canal atrioventricular intermedio Claudicación intermitenteDisección de la arteria carótida internaHipoplasia de la arteria carótida internaHemorragia internaInterrupción del arco aórticoInterrupción del arco aórtico tipo aInterrupción del arco aórtico tipo bInterrupción del arco aórtico tipo cInterrupción de la vena cava inferior con continuación ácigosEngrosamiento de la íntima en las arterias coronariasDisección de la arteria carótida interna intracranealOnda j

Taquicardia ectópica de la uniónCoartación de la aorta juxtaductalBucle en l del ventrículo derechoVasculitis de grandes vasosAnomalía venosa lateralBloqueo fascicular anterior izquierdoArco aórtico izquierdo con origen cervical de la arteria subclavia derechaArco aórtico izquierdo con arteria subclavia aisladaArco aórtico izquierdo con divertículo retroesofágica de KommerellArco aórtico izquierdo con arteria subclavia retroesofágica derechaArco aórtico izquierdo con aorta descendente derecha y de ductus arterioso derechoIsomerismo auricular izquierdoBloqueo de rama izquierdaBloqueo fascicular posterior izquierdoVena cava superior izquierda drenando directamente a la aurícula izquierdaVena cava superior izquierda drenando al seno coronarioHipertrofia ventricular izquierdaCardiomiopatía no compactada de ventrículo izquierdoHipertrofia septal ventricular izquierdaCortocircuito (shunt) de izquierda a derechaLesiones de Libman-SacksFalla cardíaca congestiva de bajo gastoPresión arterial baja a normalNeoplasia de vaso linfáticoMalformación del corazón y los grandes vasosEstenosis aórtica subvalvular membranosaAneurisma de la arteria mesentéricaMesocardiaApex ventricular en dirección a la linea mediaFracción de eyección reducida ligeramenteAtresia mitralRegurgitación mitralEstenosis mitralArcada de la válvula mitralProlapso de la válvula mitralConexión anómala total de venas pulmonares mixtaBloqueo auriculoventricular Mobitz iBloqueo auriculoventricular Mobitz iiFracción de eyección moderadamente reducidaTaquicardia auricular multifocalMúltiples defectos del tabique interventricular muscularDivertículo cardiaco muscularEstenosis aórtica subvalvular muscularDefecto septal ventricular muscularFibrosis miocárdicaInfarto de miocardioNecrosis miocárdicaEsteatosis miocárdicaMiocarditisDegeneración mixomatosa de la válvula mitral

Nevus flammeus del párpadoNeoplasia del corazónNevus flammeusNevus flammeus cervicalNevus flammeus de la frenteEnfermedad de la válvula aórtica calcificada nodularVasculitis inflamatoria nodularDefecto septal ventricular no restrictivo Miocardiopatía no compactadaEnfermedad de arteria coronaria no oclusivaEnfermedad arterial oclusivaEnfermedad vascular oclusivaCardiomiopatía oncocíticaSíncope ortostáticoSuperposición de la aortaVálvula atrioventricular principalPalpitacionesPalpitaciones (con feocromocitoma)Válvula mitral en paracaídasFibrilación auricular paroxísticaTaquicardia auricular paroxísticaTaquicardia supraventricular paroxísticaTaquicardia paroxísticaTaquicardia ventricular paroxísticaRetorno venoso pulmonar anómalo parcialDefecto del canal atrioventricular parcialAusencia de pericardio diafragmático parcialAusencia de pericardio izquierdo diafragmático parcialAusencia de pericardio derecho diafragmático parcialDuctus arterioso permeableDuctus arterioso permeable después del nacimiento a términoDuctus arterioso permeable después del nacimiento prematuroForamen oval permeableConstricción pericárdicaDerrame pericárdicoLinfangiectasia pericárdicaMesotelioma pericárdicoPericarditisDefecto septal ventricular perimembranosoEnfermedad arterial periféricaEstenosis arterial periféricaFístula arteriovenosa periféricaEstenosis de la arteria pulmonar periféricaAplasia periférica de los vasos pulmonaresInsuficiencia vascular periféricaFibrilación auricular permanenteTaquicardia reciproca permanente de la uniónCirculación fetal persistenteVena cava superior izquierda persistenteDuctus venoso patente persistente

Extrasístoles ventriculares polimórficas y politópicasPrueba de bloqueo regitine positivaReestenosis de la arteria coronaria después de la angioplastiaCoartación de la aorta posductalAteroesclerosis precozCoartación de la aorta preductalArterioesclerosis prematuraEnfermedad de la arteria coronaria prematuraEnfermedad vascular oclusiva prematuraEnfermedad vascular periférica prematuraArritmia auricular primariaComunicación interauricular ostium primumIntervalo PR prolongadoComplejo QRS prolongadoIntervalo QT prolongadoIntervalo QTC prolongadoVenas del cuero cabelludo prominentesVenas superficiales prominentesVenas prominentes en el troncoSeudocoartación de la aortaHipertrofia medial de la arterial pulmonarFístulas arteriovenosas pulmonaresMalformación arteriovenosa pulmonarAneurisma de la arteria pulmonarAtresia de la arteria pulmonarDilatación de la arteria pulmonarHipoplasia de la arteria pulmonarHonda de la arteria pulmonarEstenosis de la arteria pulmonarVasoconstricción de la arteria pulmonarFibrosis de la íntima aterial pulmonarHemangiomatosis capilar pulmonarHipertensión pulmonarInsuficiencia pulmonarLinfangiomiomatosis pulmonarAtresia de la válvula pulmonarDefectos de la válvula pulmonarEstenosis pulmonarMixoma válvula pulmonarLesiones cutáneas de vasculitis punctataHemorragia intrapulmonar recurrenteFracción de eyección reducidaFunción sistólica reducidaAnomalía de movimiento de la pared ventricular regional izquierdaMiocardiopatía restrictivaInsuficiencia cardíaca restrictivaDefecto septal ventricular restrictivoAlteraciones del ritmo asociados con feocromocitomaArco aórtico derechoArco aórtico derecho con aorta descendente izquierda y ductus arterioso izquierdo

Arco aórtico derecho con imagen especular de ramificaciónArco aórtico derecho con divertículo retroesofágico de KommerellArco aórtico derecho con arteria subclavia izquierda retroesofágicaIsomerismo auricular derechaBloqueo de rama derechaLado derecho de la aurícula al ventrículo izquierdo y conexión atrioventricular del lado izquierdo ausenteMiocardiopatía ventricular derechaDilatación del ventrículo derechoInsuficiencia ventricular derechaHipertrofia ventricular derechaCardiomiopatía no compactada de ventrículo derechoObstrucción de la salida del ventrículo derechoCortocircuito (shunt) de derecha a izquierdaApex ventricular direccionado a la derechaDepresión del segmento STElevación del segmento STAneurisma de aorta torácica descendente sacularAnomalía de la cimitarraBloqueo auriculoventricular de segundo gradoComunicación interauricular ostium secundumDerrame pericárdico serosoFracción de eyección severamente reducidaCuerdas tendinosas cortas de la válvula mitralCuerdas tendinosas cortas de la válvula tricúspideIntervalo pr acortadoIntervalo qt acortadoSíndrome del seno enfermo (corazón)Origen de arteria coronaria individualVentrículo únicoVentrículo único de morfología indeterminadaBloqueo sinoauricularBradicardia sinusalAneurisma del seno de valsalva Taquicardia sinusalSeno venoso del defecto septal atrialVasculitis de pequeños vasosDisección coronaria espontáneaVálvula atrioventricular cabalgadaEstenosis subaórticaDefecto septal ventricular subarterialMuerte súbita cardíacaAneurisma de arteria mesentérica superiorVentrículos superior-inferior sin válvulas auriculoventriculares entrecruzadasConexión anómala total de venas pulmonares supracardíacaAnillo supramitralEstenosis aórtica supravalvularArritmia supraventricularTaquicardia supraventricularTaquicardia supraventricular con conexión accesoria ocultaTaquicardia supraventricular con vía accesoria oculta en la pared libre izquierda

Taquicardia supraventricular con vía accesoria oculta en la pared libre derechaTaquicardia supraventricular con vía accesoria oculta en el tabiqueTaquicardia supraventricular con vía accesoria manifiestaTaquicardia supraventricular con vía accesoria manifiesta en la pared libre izquierdaTaquicardia supraventricular con vía accesoria manifiesta en la pared libre derechaTaquicardia supraventricular con vía accesoria manifiesta en el tabiqueTaquicardia supraventricular con conexión mediada vía accesoriaSíncopeAlternancia de la onda tInversión de la onda t en las derivaciones precordiales derechasTaquicardiaTaquicardia (con feocromocitoma)Miocardiopatía de TakotsuboTetralogía de FallotTetralogía de Fallot con válvula pulmonar ausenteTetralogía de Fallot con cono subarterial ausenteTetralogía de Fallot con defecto del canal atrioventricularTetralogía de Fallot con atresia pulmonarTetralogía de Fallot con atresia pulmonar y arterias colaterales aortopulmonaresTetralogía de Fallot con estenosis pulmonarBloqueo auriculoventricular de tercer gradoAneurisma de la aorta torácicaEctopia cordis torácicaEctopia cordis toracoabdominalEctopia cordis toracocervicalTorsade de pointes (torcida de puntas)Ausencia total del pericardioRetorno venoso pulmonar tota anómaloDefecto de canal atrioventricular transicionalTransposición de las grandes vasosTransposición de grandes vasos con septo íntegroTransposición de grandes vasos con comunicación interventricularAtresia tricúspideRegurgitación tricuspídeaEstenosis tricúspideProlapso de la válvula tricúspideBloqueo trifascicularTronco arteriosoAngioma en penachoTronco tipo ITronco arterioso tipo IITronco arterioso tipo IIITronco arterioso tipo IV Anomalía de UhlDefecto de canal atrioventricular desbalanceadoVálvula aórtica unicúspideVentrículo único con ausencia de conexión atrioventricular del lado izquierdoVenas varicesNeoplasia vascularAnillo vascular

Tortuosidad vascularVasculitisVasculitis en pielSíncope vasovagalAnormalidad venosaInsuficiencia venosaMalformación venosaVaricosidades de las venas mesentérica y celíacaAneurisma ventricularArritmias ventricularesRitmos de escape ventricularesExtrasístoles ventricularesFibrilación ventricularAleteo ventricularHipertrofia ventricularPreexcitación ventricular Preexcitación ventricular con múltiples vías accesoriasDefecto septal ventricularTaquicardia ventricularAngiomatosis visceralSíndrome de Wolff-Parkinson-WhiteAnormalidad del sistema nervioso.Abasia paralíticaParálisis del vi par craneal (abducente)Mielinización anormal del sistema nervioso central (SNC)Niveles anormales de dopamina en líquido cefaloraquídeoComportamiento anormal agresivo, impulsivo o violentoPotenciales auditivos evocados anormalesMorfología anormal del sistema nervioso autónomo.Fisiología anormal del sistema nervioso autónomo.Alteración en la intensidad de la señal de ganglios basales en resonancia magnética nuclearTomografía por emisión de positrones cerebral con fdg (fluorodesoxiglucosa) anormalRazón colina/creatinina anormal en cerebro por espectrometría de resonancia magnética nuclear.Tomografía por emisión de positrones cerebral anormalAlteración en la intensidad de la señal del tallo encefálico por resonancia magnética nuclearMielograma cervical anormalAlteración en giro de la corteza cerebralConducta alimenticia anormalComportamiento emotivo/afectivo anormalComportamiento ansioso/temeroso anormal Movimientos anormales de la cabezaMorfología anormal del hipotálamoFisiología anormal de hipotálamo Tamaño anormal del cuerpo callosoAlteración en potenciales evocados de miembros inferiores Alteración metabólica en imagen cerebral por espectrometría de resonancia magnética nuclearAlteración en potenciales evocados motores Mielinización anormalElectrofisiología anormal del sistema nerviosoMorfología neuronal anormal

Mielinización periférica anormalDefecto posturalTrastorno del sueño rem ("rapid eye movements" o movimientos oculares rápidos)Conducta social anormalAlteración en la regulación sudomotoraTransmisión sináptica anormalAlteración en la intensidad de la señal del tálamo en la resonancia magnética nuclearTamaño anormal del tálamoAlteración en potenciales evocados motores de miembros superioresAlteración de la morfología cerebralAlteración de la morfología del tallo cerebralAlteración en la conducción motora centralAlteración de la función motora centralAlteración en la función sensorial centralAlteración en potenciales evocados somatosensoriales centralesAnormalidad de la arteria cerebralAnormalidad de las venas cerebralesAnormalidad del polígono de WillisAlteración en la coordinaciónAlteración en la función motora extrapiramidalAlteración en la morfología del cerebro anterior o proencéfaloAlteración en las funciones mentales superioresAlteración en la morfología del cerebro posterior o romboencéfaloPresión intracraneana anormalAlteración en la morfología del cerebro medio o mesencéfaloAlteración del movimientoAlteración en la morfología del sistema nerviosoAlteración en la fisiología del sistema nerviosoAlteración de la migración neuronalAlteración en la sensación de dolorAlteración en la conducción nerviosa periféricaAlteración en potenciales evocados somatosensoriales periféricosAlteración en la función motora piramidalAlteración en potenciales evocados somatosensorialesAlteración en la morfología del tálamoAlteración de las células del cuerno anterior de la médula espinalAlteración en la membrana aracnoideaAnomalía de los astrocitosAlteración del sistema nervioso autónomoAnomalía de los ganglios basalesAnomalía de la sustancia blanca del tallo cerebralAnomalía del núcleo caudadoAnomalía del pedúnculo cerebelosoAnomalía del vermis cerebelosoAnomalía del cerebeloAnomalía de la corteza cerebralAnomalía de la subcorteza cerebralAnomalía de la vasculatura cerebralAnomalía de los ventrículos cerebralesAnomalía de la sustancia blanca cerebral

Anomalía del líquido cefalorraquídeoAnomalía del cerebroAnomalía del plexo coroideoAnomalía del cuerpo callosoAnomalía del tracto corticoespinalAnomalía de los pares cranealesAnomalía del núcleo dentadoAnomalía del diencéfaloAnomalía de la columna dorsal de la médula espinalAnomalía de la duramadreAnomalía del xi par cranealAnomalía de ganglios entéricosAnomalía de la hoz cerebralAnomalía del v par craneal o trigéminoAnomalía del cuarto ventrículoAnomalía de las células glialesAnomalía del globo pálidoAnomalía de la cápsula internaAnomalía de la motoneurona inferiorAnomalía de la médula oblongada o bulbo raquídeoAnomalía de las meningesAnomalía del metencéfaloAnomalía de la microglíaAnomalía de las motoneuronasAnomalía del sistema nerviosoAnomalía de la unión neuromuscularAnomalía del oligodendroglíaAnomalía del sistema nervioso periféricoAnomalía de la sustancia blanca periventricularAnomalía de la piamadreAnomalía del de la protuberancia o puente cerebralAnomalía del septum pellucidum o septo pelúcidoAnomalía del VII par craneal o nervio facialAnomalía del VI par craneal o abducenteAnomalía de la médula espinalAnomalía de la duramadre de la médula espinalAnomalía de las meninges de la médula espinalAlteración en las vías espinocerebelosasAnomalía del núcleo estriadoAnomalía del espacio subaracnoideoAnomalía del pedúnculo cerebeloso superiorAnomalía del tercer ventrículoAnomalía del xii par craneal o nervio hipoglosoAnomalía del viii par craneal o nervio vestíbulococlearAbolición de la sensación de vibración Ausencia del tercer ventrículo cerebralCrisis de ausenciaCrisis de ausencia con mioclonías del párpadoCrisis de ausencia con otras características especialesAusencia del reflejo aquiliano

Ausencia de respuesta en los potenciales auditivos del tallo cerebralAusencia de mesencéfaloAusencia del reflejo rotulianoAusencia del septum pelucidum o septo pelúcidoAusencia del lenguajeAbuliaTemblor de acción o dinámicoPolineuropatía desmielinizante agudaEncefalopatía agudaEpisodios agudos de síntomas neuropáticosEncefalopatía necrotizante agudaFeocromocitoma adrenalAura afectivaMegacolon aganglionarAganglionosis del intestino delgadoAgenesia de vermis cerebelosoAgenesia del cuerpo callosoComportamiento agresivoAgitaciónAgnosiaAgorafobiaAgrafestesiaCuerpos de inclusión argirófilos o de pickAquinesiaMutismo aquinéticoAlexiaAlodiniaHoloprosencefalia alobarEEG con predominancia de ondas alfaEnfermedad de AlzheimerAmieliaAmiloidosis de nervios periféricosEsclerosis lateral amiotróficaAnartriaAnencefaliaAnhedoniaClonus del tobilloHemorragia intracerebral prenatalEstenosis de la arteria cerebral anteriorAnsiedadAnsiedad (presencia de feocromocitoma)ApatíaAfasiaAplasia de la hoz cerebralAplasia de la mitad inferior del vermis cerebelosoAplasia del tracto ópticoAplasia del tracto piramidalAplasia / hipoplasia que afecta el sistema nervioso centralAplasia / hipoplasia de los tractos corticoespinalesAplasia / hipoplasia del vermis cerebeloso

Aplasia / hipoplasia del tallo cerebralAplasia / hipoplasia del cerebeloAplasia / hipoplasia de la sustancia blanca cerebralAplasia / hipoplasia del cerebroAplasia / hipoplasia del cuerpo callosoAplasia / hipoplasia del tracto ópticoAplasia / hipoplasia del tracto piramidalApraxiaAprosencefaliaEstenosis del acueductoQuiste aracnoideoArreflexiaArreflexia de miembros inferioresArreflexia de miembros superioresMalformación de Arnold-ChiariMalformación Arnold-Chiari tipo i ArrinencefaliaArteriosclerosis de pequeñas arterias cerebralesAstereognosiaAsterixisAstrocitomaAstrocitosisVentrículos cerebrales asimétricosAsinergiaAtaxiaParálisis cerebral atetoideAtetosisConvulsiones atónicasAtrofia del núcleo dentadoAtrofia de la médula espinalAtrofia / degeneración del tallo cerebralAtrofia / degeneración del sistema nervioso centralAtrofia / degeneración del cerebroAtrofia / degeneración de motoneuronasAtrofia / degeneración del núcleo caudadoAtrofia / degeneración de tractos corticoespinalesAtrofia / degeneración de la médula espinalTrastorno de hiperactividad y déficit de atenciónCrisis de ausencia atípicasNeurofibromatosis atípicaAuras auditivasAlucinaciones auditivasAurasAutismoAutismo con capacidad cognitiva altaComportamiento autistaDisfunción autonómica de la vejigaDesautonomía o desregulación autonómicaDisfunción eréctil autonómicaDistonía axial

Degeneración / regeneración axonal Pérdida axonalRegeneración axonalSigno de BabinskiCalcificación de los ganglios basalesQuistes de los ganglios basalesGliosis de los ganglios basalesNecrosis de los ganglios basalesFormación de la lámina basal en forma de "bulbos de cebolla"Alteración comportamentalTumor benigno del sistema nervioso centralBeta-electroencefalogramaLesiones bilaterales de los ganglios basales Crisis convulsivas bilateralesCalcificaciones intracraneales bilateralesDescargas epilépticas multifocales bilateralesSchwannoma vestibular bilateralSinkinesia bimanualTrastorno afectivo bipolarTrastorno de personalidad límiteBradicinesiaAtrofia cerebral progresiva (siendo anterioremente normal)Compresión del tallo cerebralCerebro pequeñoDisplasia del tallo cerebralGlioma del tallo cerebralReflejos osteotendinosos exaltadosMarcha con polígono de sustentación amplioBruxismoParálisis bulbarSignos bulbaresBulimiaDesmielinización del sistema nervioso centralHipermielinización del sistema nervioso centralHipomielinizacióndel sistema nervioso centralInfección del sistema nervioso centralPleocitosis linfocítica de líquido cefaloraquídeoPleocitosis en líquido cefaloraquídeoPleocitosis a expensas de polimorfonucleares en líquido cefaloraquídeoCalcificación de la hoz cerebralCalcificación de pequeños vasos cerebralesParaganglioma carotídeoCataplejíaAtrofia del núcleo caudadoCavitación de ganglios basalesCavum septum pellucidumHipotonía centralDegeneración del sistema nervioso centralApnea central del sueñoAtrofia de la lámina de Purkinje del cerebelo

Agenesia cerebelosaAtaxia cerebelosa asociada a marcha cuadrúpedaAtrofia cerebelosaCalcificaciones cerebelosasAtrofia cortical cerebelosaQuiste cerebelosoDisplasia del cerebeloGlioma del cerebeloGliosis del cerebeloAtrofia de la capa granular del cerebeloHemangioblastoma del cerebeloHipoplasia de un hemisferio del cerebeloHemorragia cerebelosaHipoplasia cerebelosaMalformación del cerebeloMeduloblastoma cerebelosoAtrofia del vermis cerebelosoHipoplasia del vermis cerebelosoQuiste aracnoideo del ángulo cerebelopontinoAneurisma cerebralMalformación arteriovenosa cerebralAterosclerosis de la arteria cerebralEstenosis de la arteria cerebralAtrofia cerebralAneurisma cerebral sacular o en forma de bayaCalcificación cerebralCorteza cerebral con cambios espongiformesAtrofia cortical cerebralHemiatrofia cortical cerebralNeurodegeneración de la corteza cerebralDegeneración cerebralDesmielinización cerebralEdema cerebralGranulomatosis cerebralHamartoma cerebralHemorragia cerebralCuerpos hialinos cerebralesHipomielinización cerebralHipoplasia cerebralCuerpos de inclusión cerebralIsquemia cerebralParálisis cerebralVasculitis cerebralAngioma venoso cerebralAdherencias de los ventrículos cerebralesAgenesia de la sustancia blanca cerebralAtrofia de la sustancia blanca cerebralHipoplasia de la sustancia blanca cerebralCompresión de la médula espinal a nivel cervicalMielopatía cervical

Espina bífida a nivel cervicalAtrofia de la médula espinal a nivel cervicalReflejo de Chaddock Dificultad para la masticaciónMioclonías en el mentónCoreaCoreoatetosisCalcificación del plexo coroideoQuiste del plexo coroideoPapiloma del plexo coroideoLinfocitosis crónica del líquido cefalorraquídeoNeuropatía axonal crónicaFatiga crónicaEncefalopatía hepática crónicaMeningitis linfocítica crónicaDolor crónicoPolineuropatía neurosensorial crónicaClonusTorpezaCefalea en racimosRegeneración axonal en racimosDeterioro cognitivoRigidez o espasticidad en rueda dentadaComaHidrocefalia comunicanteConvulsiones febriles complejasConfusiónEncefalopatía congénitaCalcificación intracerebral congénitaNeuroblastoma congénitoNeuropatía periférica congénitaAfecto inapropiadoNeuropatía del nervio mediano por compresiónAcumulación de cobre en el cerebroAtrofia del cuerpo callosoDisplasia corticalDisminución en las circunvoluciones corticalesTubérculos corticalesAtrofia del tracto corticoespinalEnfermedad del tracto corticoespinal que afecta miembros inferioresDisfunción del tracto corticoespinalHipoplasia del tracto corticoespinalPalidez del tracto corticoespinalParálisis del vi par craneal o abducenteCompresión de algún nervio cranealPérdida de la función motora de un par cranealParálisis del nervio cranealDistonía craneofacialDilatación del tercer ventrículoConvulsiones dacrísticas

Rigidez por decorticaciónDisminución del reflejo de aquiles Disminución de ácido homovanílico (hva) en líquido cefaloraquídeo Disminución en la amplitud de los potenciales de acción sensitivosDisminución en el potencial de acción sensitivo del nervio a nivel distal Presión intracraneal disminuidaDisminución en los potenciales de acción de la placa terminal pequeñaDisminución en la velocidad de conducción motora nerviosaDisminución en la velocidad de conducción nerviosaDisminución en el número de fibras nerviosas mielinizadas periféricas grandesDisminución en el número de fibras nerviosas mielinizadas periféricasDisminución en el número de fibras nerviosas mielinizadas periféricas pequeñasDisminución del reflejo patelarDisminución de la velocidad de conducción sensitiva nerviosaDisminución en el tamaño de las terminales nerviosasDisminución en el volumen talámico Disminución / ausencia de los reflejos del tobilloHipodensidades de la sustancia blanca profundaDéficit para repetir sonidosDéficit en la memoria fonológica de corto plazoDegeneración de las células del asta anteriorDegeneración de los tractos corticoespinales lateralesDeja vu o fenómeno de lo "ya visto"Retraso en la mielinización del sistema nervioso centralRetraso en el desarrollo de la motricidad finaRetraso en el desarrollo de la motricidad gruesaRetraso en la mielinizaciónRetraso en la mielinización periféricaRetraso en el desarrollo socialRetraso del lenguaje y la comunicaciónDeliriosDemenciaNeuropatía motora desmielinizanteNeuropatía periférica desmielinizanteNeuropatía sensitiva desmielinizanteCalcificaciones densas en el núcleo dentado del cerebeloDepresiónRegresión en el desarrolloEstancamiento del desarrolloEstancamiento del desarrollo al inicio de cuadro convulsivoCrisis convulsivas dialépticasDiastematomieliaDificultad para caminarEdema axonal difusoAtrofia cerebelosa difusaAtrofia difusa cerebralCalcificaciones difusas cerebralesEsclerosis cerebral difusaDesmielinización difusa de la sustancia blanca cerebralLeucoencefalopatía difusa

Desmielinización periférica difusaLeucoencefalopatía espongiforme difusaEdema difuso de la sustancia blanca cerebralAnomalías difusas de la sustancia blanca cerebralDilatación del cuarto ventrículoDilatación de los ventrículos lateralesDisminución de la motivaciónMovimientos disminuidosDiplomieliaDesinhibiciónDesorganización del vermis cerebeloso anteriorPérdidas sensoriales disociativasNeuropatía sensitiva periférica distalDiscapacidad sensitiva distalDiscapacidad sensitiva distal que incluye todas las modalidadesPérdida sensitiva distal que incluye todas las modalidadesDegeneración de la columna dorsalSomnolenciaAganglionosis duodenalEctasia duralDisartriaDisautonomíaDiscalculiaDisdiadococinesiasDisestesiaDisfunción del tracto corticoespinal lateralDisgenesia del vermis cerebelosoDisgrafíaDiscinesiaDislexiaDismetríaVermis cerebeloso inferior dismórficoLeucodistrofia desmielinizanteDisfagiaDisfasiaDisfoníaCuerpo calloso displásicoDisinergiaDistoníaAnormalidad en el EEGEEG con actividad de fondo de 4-5/ segundosEEG con frecuencias lentas anormalesEEG con trazado de supresión de actividad EEG con ondas pico focales centralesEEG con espigas focales centralesEEG con ondas lentas afiladas centralesEEG con ondas afiladas centralesEEG con ondas pico focales centrotemporalesEEG con cambios en el voltajeEEG con variantes constitucionales

EEG con actividad lenta continuaEEG con aceleración difusaEEG con descargas epileptiformes focalesEEG con ondas lentas afiladas focalesEEG con ondas afiladas focalesEEG con actividad focal lentaEEG con ondas pico focalesEEG con espigas focalesEEG con ondas pico focales frontalesEEG con espigas focales frontalesEEG con ondas lentas afiladas frontalesEEG con ondas afiladas frontalesEEG con descargas epileptiformes generalizadasEEG con actividad generalizada de baja amplitudEEG con descargas epileptiformes polimórficas generalizadasEEG con múltiples espigas generalizadasEEG con ondas lentas afiladas generalizadasEEG con actividad lenta generalizadaEEG con actividad lenta generalizada grado 1EEG con actividad lenta generalizada grado 2EEG con actividad lenta generalizada grado 3EEG con actividad lenta generalizada grado 4EEG con espigas generalizadasEEG con descargas epileptiformes inducidas por hiperventilaciónEEG con descargas epileptiformes focales inducidas por hiperventilaciónEEG con descargas epileptiformes generalizadas inducidas por hiperventilaciónEEG con actividad lenta intermitenteEEG con espigas generalizadas irregulares y complejos de ondas EEG con actividad localizada de baja amplitudEEG con actividad lenta multifocalEEG con ondas pico focales occipitales EEG con espigas focales occipitalesEEG con ondas lentas afiladas occipitalesEEG con ondas afiladas occipitalesEEG con enlentecimiento de la actividad a nivel occipitalEEG con ondas pico focales parietalesEEG con espigas focales parietalesEEG con ondas lentas afiladas parietalesEEG con ondas afiladas parietalesEEG con trazado anormal periódicoEEG con complejos periódicosEEG con descargas epileptiformes periódicas lateralizadasEEG con actividad rítmica anormal persistenteEEG con respuesta fotoparoxísticaEEG con respuesta fotoparoxística grado iEEG con respuesta fotoparoxística grado iiEEG con respuesta fotoparoxística grado iiiEEG con respuesta fotoparoxística grado ivEEG con complejos de onda poliespigaEEG con series de espigas focales

EEG con complejos punta-onda (2.5 a 3.5 hz)EEG con complejos punta-onda (<2,5 hz)EEG con complejos punta-onda (> 3,5 hz)EEG con complejos punta-ondaEEG con ondas pico focales temporalesEEG con espigas focales temporalesEEG con ondas afiladas lentas temporalesEEG con ondas afiladas temporalesDescargas mioquímicas en la electromiografíaCrisis de ausencia de aparición tempranaTendencia a fatigarse fácilmenteEcolaliaClonus del codoNiveles elevados de dopamina en líquido cefaloraquídeoNivel de colina elevado en cerebro por resonancia magnética nuclear por espectrometríaNivel de lactato elevado en cerebro por resonancia magnética nuclear por espectrometríaPedúnculo cerebeloso superior elongadoLabilidad emocionalEncefalitisEncefalopatíaNeurotoxicidad intensificada de la vincristinaMejoría del reflejo CAumento en el tamaño del tallo cerebralAumento en el tamaño del cerebeloAumento en el tamaño de la cisterna magnaAumento en el tamaño de la fosa interpeduncularAumento en el tamaño del hipocampoAumento en el tamaño de la fisura interhemisféricaAumento en el tamaño de nervios periféricosAumento en el tamaño de la cisterna de SilvioAumento en el volúmen talámicoNeuropatía por atrapamientoNeuropatía por atrapamiento del nervio supraescapularNeuropatía por atrapamiento del nervio cubital a nivel del codoEpendimomaHemorragia epiduralAuras epigástricasEpilepsia parcial continuaEncefalopatía epilépticaEspasmos epilépticosDescargas epileptiformes en el electroencefalogramaAtaxia episódicaFatiga episódicaHemiplejía episódicaHiperinsomnia episódicaNeuropatía periférica episódicaCuadriplejia episódicaRespuesta de sobresalto exageradaSomnolencia diurna excesivaAuras psíquicas o experienciales

Retraso en el lenguaje expresivoAcumulación de líquido cefalorraquídeo extra-axialFeocromocitoma extra adrenalDisquinesia extrapiramidalRigidez muscular extrapiramidalAnomalía en ojo de tigre del globo pálidoRestregarse los ojosMioclonías en los párpadosFasciculaciones facio-lingualesCaidasFasciculacionesDebilidad por fatiga muscularFatigaConvulsiones febrilesAgnosia digitalFluctuaciones en la concienciaDescargas focales en el eeg con propagación sobre el hemisferio ipsilateral Descargas generalizadas en el eeg con propagación en ambos hemisferiosLesión focal hiperintensa en t2 de los ganglios basalesLesión focal hiperintensa en t2 del tallo cerebral Lesión focal hiperintensa en t2 del tálamoLesión focal hipointensa en t2 de los ganglios basalesLesión focal hipointensa en t2 del tallo cerebral Lesión focal hipointensa en t2 del tálamoConvulsiones autonómicas focales Convulsiones autonómicas focales con respuesta alteradaConvulsiones autonómicas focales sin respuesta alteradaClónicas clónicas focalesDistonía focalDescargas epileptiformes focales con propagación limitada al hemisferio contralateralLisencefalia focalConvulsiones motoras focalesConvulsiones mioclónicas focalesConvulsiones focalesConvulsiones focales con deterioro de la conciencia o el estado de alertaConvulsiones focales sin deterioro de la conciencia o el estado de alertaConvulsiones tónicas focalesLesiones focales de la sustancia blancaParálisis del iv par craneal o nervio troclearCaídas frecuentesAtrofia de la corteza frontalDemencia del lóbulo frontalSignos de liberación frontalAngioma venoso a nivel frontalDemencia frontolímbicaDisplasia cortical frontoparietalPolimicrogiria frontoparietalAtrofia cerebral frontotemporalDemencia frontotemporalFusión de los hemisferios cerebelosos

Fusión de los tálamos izquierdo y derechoMarcha apráxicaMarcha atáxicaAlteración en la marchaMarcha no balanceadaInestabilidad en la marcha, empeora en la oscuridadGanglioneuroblastomaGanglioneuromaCrisis gelásticasAtrofia/ hipoplasia generalizada cerebralConvulsiones clónicas generalizadasDistonía generalizadaHiperreflexia globalHipotonía global debido a un defecto de la unión neuromuscularConvulsiones mioclónicas generalizadasConvulsiones generalizadasConvulsiones tónicas generalizadasConvulsiones tónico-clónicas generalizadasConvulsiones tónico-clónicas generalizadas al despertarPotenciales evocados somatosensoriales gigantesGlioblastomaGlioblastoma multiformeGliomaGliosisAtrofia cerebral globalRetardo global del desarrolloTumor del glomus yugularParaganglioma del glomo timpánicoTrastorno específico del lenguaje con problemas en la gramáticaDegeneración granulovacuolarHeterotopias de la sustancia grisAuras gustativasTricotilomaníaAlucinacionesAuras alucinatoriasTemblor en las manosInclinación de la cabezaTemblor en la cabezaGolpearse en la cabezaCefaleaCefalea (con feocromocitoma)HemangioblastomaHemibalismoConvulsiones hemiclónicasConvulsiones hemifacialesEspasmo hemifacialHemihipsarritmiaHemimegalencefaliaHemiparesiaHemiplejía

Hemiplejía / hemiparesiaEncefalopatía hepáticaHeterotopíaCuerpos de hiranoTrastorno de personalidad histriónicaHoloprosencefaliaHidranencefaliaHidrocefaliaHidromieliaReflejos tendinosos profundos hiperactivosReflejo patelar hiperactivoHiperactividadHiperestesiaHipercinesiaConvulsiones hiperquinéticasHiperoralidadHiperreflexiaHiperreflexia de miembros superioresHiperreflexia proximalHipersomniaHipertoníaCambios hipertróficos del nervioAlucinaciones hipnagógicasCefalea hípnicaAlucinaciones hipnopómpicasConvulsiones por hipocalcemiaTetania provocada por hipocalcemiaHipodisplasia del cuerpo callosoComa hipoglicémicoEncefalopatía hipoglicémicaConvulsiones hipoglicémicasHipoglucorraquiaHipointensidad de la sustancia blanca cerebral en la resonancia magnética nuclearHipocinesiaConvulsiones hipocinéticasHipoplasia del tracto olfatorioHipoplasia del tallo cerebralHipoplasia del cuerpo callosoHipoplasia de los lóbulos frontalesHipoplasia del tracto ópticoHipoplasia de la protuberanciaHipoplasia del tracto piramidalHipoplasia de la protuberancia ventralLóbulos olfativos hipoplásicosArteria comunicante posterior hipoplásicaHiporreflexiaHiporreflexia de miembros inferioresHiporreflexia de miembros superioresDeficiencia de la hormona liberadora de gonadotropina de origen hipotalámico (gnrh)Hamartoma hipotalámico

Hipometabolismo en hipotálamo por tomografía de emisión de positrones con fdgHipotiroidismo hipotalámicoSecreción disminuida de la hormona hipotalámica liberadora de hormona luteinizanteHipsarritmiaAuras ilusoriasAlteración para la habilidad de establecer relaciones con compañerosDeterioro o pérdida de la propiocepción distalDisminución de la sensación táctil distalDisminución de la sensación de vibración distalDisminución en la sensación de dolorPropiocepción alteradaInteracciones sociales deterioradosReciprocidad social deterioradaDeterioro de la sensación táctilDeterioro de la sensación de temperaturaDeterioro para localizar el lugar donde han tocado a la personaDisminución de la habilidad para discriminar dos puntosDeterioro de la capacidad de usar comportamientos no verbalesDeterioro de la sensación vibratoria en tobillosDeterioro de la sensación vibratoria en extremidades inferioresDeterioro de la sensación vibratoriaDeterioro cognitivo para la construcción visuoespacialImpulsividadIncapacidad para caminarIncapacidad para caminar en la infancia / adolescenciaComportamiento inadecuadoRisa inapropiadaConducta sexual inapropiadaDiscurso incoherenteIncoordinaciónAumento de interferón alfa en líquido cefaloraquídeoAumento de lactato en líquido cefaloraquídeoAumento de proteínas en líquido cefaloraquídeoAumento de lactato en núcleo caudadoAumento de la lipofuscina cerebralAumento de lipopigmento fluorescente extraneuronalAumento de la presión intracranealAumento de lipopigmento fluorescente neuronalEncefalopatía infantilEspasmos infantilesHipoplasia del vermis inferiorInflexibilidad para adherirse a rutinas o ritualesInsomnioDiscapacidad intelectualDiscapacidad intelectual, en el límiteDiscapacidad intelectual leveDiscapacidad intelectual moderadaDiscapacidad intelectual profundaDiscapacidad intelectual progresivaDiscapacidad intelectual severa

Temblor de intenciónAtaxia cerebelosa intermitenteEspasmos musculares dolorosos intermitentesCalcificaciones periventriculares intracerebralesLesión quística intracranealQuiste dermoide intracranealQuiste epidermoide intracranealHemorragia intracranealMeningioma intracranealQuiste aracnoideo intraventricularMovimientos espasmódicos involuntariosMovimientos involuntariosMovimientos involuntarios de torsiónAcumulación de hierro en el cerebroAcumulación de hierro en el globo pálidoAcumulación de hierro en la sustancia negraBucles irregulares y plegamientos focales de la vaina de mielinaIrritabilidadAccidente cerebrovascular isquémicoJamais vu o fenómeno de lo "jamás visto"Hiporreflexia de la mandíbulaIntentos de pre-mioclono bloqueadosMovimientos espasmódicos de la cabezaKernícterusTallo cerebral torcidoClonus de la rodillaFalta de visiónFalta de relaciones con compañerosFalta de juego espontáneoCuerpos de LaforaDificultad para el lenguajeGanglios basales agrandadosDistonía laríngeaDegeneración espinocerebelosa de inicio tardíoLetargoLeucodistrofiaLeucoencefalopatíaCuerpos de LewyAtaxia de extremidadesDismetría de extremidadesDistonía de extremidadesFasciculaciones en las extremidadesHipertonía de extremidadesTemblor de extremidadesMalformaciones límbicasLipoma del cuerpo callosoLipoma de sistema nervioso centralLisencefaliaHoloprosencefalia lobarNeuroblastoma localizado

Segmento largo de megacolon aganglionarSignos neurológicos de tracto largo Pérdida de células de Purkinje del vermis cerebelosoPérdida de la capacidad para caminarPérdida de la capacidad de caminar en la infancia tempranaPérdida de la capacidad para caminar en la primera décadaPérdida del conocimientoPérdida del hablaNivel bajo de 5-metiltetrahidrofolato en líquido cefaloraquídeoBaja tolerancia a la frustraciónEEG de bajo voltajeHiperreflexia de extremidades inferioresHipertonía de extremidades inferioresEspasticidad de extremidades inferioresMacrogiriaTumor maligno del sistema nervioso centralManíaMeduloblastomaMegalencefaliaDeterioro de la memoriaCalcificación meníngeaMeningiomaMeningitisMeningoceleDeterioro mentalVariante de leucodistrofia metacromáticaEstenosis de la arteria cerebral mediaCalcificaciones en la línea media del cerebroLipomas en la línea media del sistema nervioso central MigrañaMigraña con auraMigraña sin auraRetraso leve en la expresión del lenguajeVentrículomegalia fetal leveRetraso global del desarrollo leveRetraso leve en el lenguaje receptivoEncefalopatía mitocondrialPolineuropatía desmielinizante y axonal combinadaAuras mnemónicasRetraso moderado en la expresión del lenguajeRetraso global del desarrollo moderadoRetraso moderado en el lenguaje receptivoSigno de la muela en resonancia magnética nuclearMononeuropatíaCambios de humorCambios de humor exageradosEspasmos mioclónicos matutinosAnomalía morfológica del sistema nervioso centralAnomalía morfológica del tracto piramidalAfasia motora

Neuropatía axonal motoraBloqueo en la conducción motoraRetraso motorDeterioro motorPolineuropatía motoraTics motoresFenómeno de moyamoyaAlteraciones multifocales de la sustancia blanca cerebralDescargas epileptiformes multifocalesNeurofibromatosis intestinal múltipleFibrilación muscularMutismoMielina excesivaGliosis dependiente de mielinaMielitisMielomeningoceleMielopatíaCrisis de ausencia mioclónicasConvulsiones atónicas mioclónicasEspasmos mioclónicosMioclonoMioquimiaMorderse las uñasDiscurso disártrico nasalEncefalopatía necrotizanteNeoplasia del sistema nervioso centralNeoplasia del sistema nerviosoNeoplasia del sistema nervioso periféricoTumores neuroblásticosNeuroblastomaNeurodegeneraciónAnomalía en el desarrollo neurológicoRetraso del desarrollo neurológicoNeoplasia neuroendocrinaOvillos de neurofibrillaNeurofibromasDeterioro neurológico para el hablaDisfagia neuromuscularPérdida de neuronas en los ganglios basalesPérdida de neuronas en el sistema nervioso centralPérdida de neuronas en la corteza cerebralAusencia de interacción socialCalcificación cerebral no arterioscleróticaHidrocefalia no comunicanteAtaxia cerebelosa no progresivaEncefalopatía no progresivaEEG normal en período interictalHidrocefalia de presión normalComportamiento obsesivo-compulsivoRasgos obsesivo-compulsivo

Apnea obstructiva del sueñoEstado obnubiladoNeurofibromas ocasionalesAtrofia cortical occipitalMeningocele occipitalMielomeningocele occipitalNeuralgia occipitalDisinergia ocularCrisis oculógirasAuras olfativasAgenesia del lóbulo olfativoDegeneración olivarAtrofia olivopontocerebelosaHipoplasia olivopontocerebelosaFormación del bulbo de cebollaOpérculo abiertoOpistótonosTrastorno de oposición desafianteGlioma ópticoAversión oralDiscinesia orofacialDistonía oromandibularApraxia oromotoraHipotensión ortostáticaHipotensión ortostática debido a disfunción autonómicaTaquicardia ortostáticaOsteomielitis o necrosis distal (pies) debida a neuropatía sensitiva HipersociabilidadPaquigiriaDolorInsensibilidad al dolorMioclono palatinoDegeneración del globo pálidoPalidez de las columnas dorsales de la médula espinalNeurofibromas palmaresParagangliomaParaganglioma de la cabeza y cuelloParálisis de los nervios craneales asociada a la presencia de paragangliomaParálisisParálisis debida a lesiones de los tractos motores principalesParanoiaParaparesiaParaplejíaParaplejía / paraparesiaNeurofibromas paravertebralesParestesiaAtrofia cortical parietalHipometabolismo parietal en la tomografía por emisión de positrones PET con fdgParkinsonismoParkinsonismo con respuesta favorable a la medicación dopaminérgica

Episodios paroxísticos de risaCoreoatetosis paroxísticaSomnolencia paroxísticaDisquinesia paroxísticaDistonía paroxísticaLetargia paroxísticoAusencia parcial del vermis cerebelosoAgenesia parcial del cuerpo callosoEEG dominado por ondas beta difusasDesmielinización en parches de la sustancia blanca subcorticalDisminución de neuronas motoras del asta anteriorParálisis periódica hiperpotasemiaParesia hipopotasémica periódicaParálisis periódica recurrenteSchwannoma periféricoAtrofia axonal periféricaDegeneración axonal periféricaNeuropatía axonal periféricaDesmielinización periféricaDismielinación periféricaHipomielinización periféricaCompresión de nervio periféricoNeuroepitelioma periféricoNeuropatía periféricaPolimicrogiria perisilvianaEspacios perivascularesQuistes periventricularesHeterotopia periventricular de la sustancia grisLeucomalacia periventricularHipodensidades periventriculares de la sustancia blancaCambios en la personalidadTrastorno de la personalidadFeocromocitomaTics vocalesMisofobiaConvulsiones fotomioclónicasCrisis convulsivas tónico-clónicas fotosensiblesPicaPinealomaCalcificación de la hipófisisNeurofibroma plexiformePolidipsiaPolimicrogiriaPolimicrogiria de gradiente antero posteriorDescargas epileptiformes focales polimórficasPolineuropatíaPolifagiaAtrofia pontocerebelosaPobre coordinaciónPobre contacto visual

Pobre coordinación motora finaPobre coordinación motora gruesaPobre coordinación mano-ojoPobre coordinación motoraDisartriaMetencefalo pobremente formadoPorencefaliaSigno de Romberg positivoEstenosis de la arteria cerebral posterior Leucoencefalopatía posteriorHipotensión postural con taquicardia compensatoriaInestabilidad posturalTemblor posturalHipometabolismo prefrontal en tomografía por emisión de positrones pet con fdgReflejos primitivos presentes (palmomental, hocico, glabelar)Retraso global profundo del desarrollo Encefalopatía estática profundaAtaxia cerebelosa progresivaCoreoatetosis progresivaEncefalopatía progresivaTrastorno de movimiento extrapiramidal progresivoRigidez muscular extrapiramidal progresivaPérdida de memoria progresivaAtaxia de la marcha progresivaIncapacidad progresiva para caminarDeterioro progresivo del lenguajeLeucoencefalopatía progresivaDeterioro neurológico progresivoNeuropatía periférica progresivaDeterioro psicomotor progresivoParaparesia espástica progresivaParaplejia espástica progresivaCuadriplejia espástica progresivaEspasticidad progresivaAtaxia truncal progresivaVentrículomegalia progresivaPotenciales evocados auditivos de tronco cerebral prolongadosPotenciales miniatura de placa terminal prolongadosPotenciales evocados omatosensoriales prolongados Prosopagnosia Codificación SugeridaSíntomas conductuales pseudobulbaresParálisis seudobulbarSignos pseudobulbaresAuras psíquicasDeterioro psicomotorPsicosisEpisodios psicóticosIdeación psicóticaParaglioma pulmonarDeterioro neurológico rápido

Retraso en el lenguaje receptivoMeningitis bacteriana recurrenteHemorragia cerebral recurrenteEncefalopatía recurrenteMovimientos de manos recurrentesMeningitis recurrenteInfartos subcorticales recurrentesReducción del nivel de dopamina en el líquido cefalorraquideoNivel cerebral disminuído de n-acetil aspartato en la resonancia magnética por spectroscopiaConciencia reducida / confusiónReducción de los reflejos osteotendinososReducción de oligodendroglíaComportamiento repetitivo compulsivoTemblor de reposoPiernas inquietasInquietudComportamientos limitados repetitivosQuiste retrocerebelarRigidezFibras de RosenthalDisartria atáxica / discurso explosivoEsquisencefaliaEsquizofreniaSchwanomaMarcha en tijeraDesmielinización segmentaria periféricaDesmielinización segmentaria periférica / remielinizaciónConvulsionesAuto mutilación compulsiva / auto mordida compulsivaComportamiento auto dañinoAutomutilaciónAutomutilación de la lengua y los labios por movimientos involuntariosHoloprosencefalia semilobar Placas senilesNeuropatía sensoriomotoraPolineuropatía sensoriomotora que afecta los brazos más que las piernasAtaxia sensorialNeuropatía atáxica sensorial Neuropatía axonal sensorialDeterioro sensorialNeuropatía sensorialDesmielinización severa de sustancia blancaRetraso en el lenguaje expresivo graveRetraso global del desarrollo graveHidrocefalia severaRetraso en el lenguaje receptivo graveDisplasia cerebelosa severa Período de atención cortosCuerpo calloso hipoplásicoMarcha parkinsoniana

Segmento corto de megacolon agangliónicoMarcha con arrastre de los piesTimidezCrisis febriles simplesDermatilomanía / pellizcado cutáneo patológicoApnea del sueñoTrastornos del sueñoMioclonías del sueñoAlteraciones del ciclo sueño-vigiliaLenguaje lento con habla arrastradaTetraparesia espástica lentamente progresivaHabla arrastradaGanglios basales pequeñosCorteza cerebral adelgazadaDeterioro social y laboralAuras somatosensorialesSomnolenciaAtaxia espásticaDiplejía espásticaDisartria espásticaMarcha espásticaHemiplejía espásticaParaparesia espásticaParaplejia espásticaTetraparesia espásticaTetraplejía espásticaEspasticidadEspasticidad de los músculos faríngeosDiscapacidad de aprendizaje específicaApraxia del hablaEspina bífidaEspina bífida ocultaEspina bífida oculta en l5Malformación arteriovenosa espinalCompresión de la médula espinalLesiones medularesPérdida de mielinización de los cordones posteriores de la médula espinal Tumor de la médula espinalMielodisrafiaHemangioblastoma espinalDivertículo meníngeo espinalMeningioma espinalMioclonía espinalNeurofibromas espinalesQuiste espinal aracnoideoAtrofia espinocerebelosaDegeneración del tracto espinocerebelosoEnfermedad del tracto espinocerebeloso de miembros inferioresSensación de dolor espontánea / parestesiaEstatus epiléptico

Marcha neuropática / marcha del gran paso Comportamiento estereottipadoBalanceo corporal estereotipadoTorsión de la mano estereotipadoAccidente cerebrovascularEpisodios similares a accidente cerebrovascularHemorragia subaracnoideaAtrofia cerebral subcorticalDemencia subcorticalCalcificaciones subcorticales de la sustancia blancaNeurofibromas subcutáneosHemorragia subduralQuistes subependimariosAstrocitoma subependimario de células gigantesNódulos subependimariosGliosis de la sustancia negraLeucodistrofia sudanofílicaQuiste aracnoideo supraselarLesiones simétricas de los ganglios basalesDesmielinización periférica simétricaNeurofibromas radiculares simétricos de nervios espinalesDesmielinización periférica simétrica progresivaConvulsiones sintomáticasSiringomieliaGanglios basales hipointensos en t2Tronco cerebral hipointenso en t2Tálamo hipointenso en t2Atrofia cortical temporalCefalea tensionalSecuencia de disrrafismo espinal ocultoTetraparesiaTetraplejiaHipometabolismo talámico en en tomografía por emisión de positrones pet con fdgCorteza cerebral engrosadaCuerpo calloso engrosadoEngrosamiento del pedúnculo cerebeloso superiorTicsLengua protruidaDistonía de torsiónArterias cerebrales tortuosasAganglionosis colónica totalAganglionosis intestinal totalAmnesia global transitoriaAtaque isquémico transitorioEpisodios psicóticos transitoriosTemblorNeuralgia del trigéminoTriplicación de la médula espinalCambios tróficos relacionados con el dolorCambios tróficos de las extremidades

Paraparesia espástica tropicalAtaxia troncalLisencefalia tipo i Lisencefalia tipo ii Crisis de ausencia típicasCuerpos de inclusión cerebral ubiquitina-positivosDescargas epileptiformes multifocales uni y bilateralesDescargas epileptiformes multifocales unilaterales Polimicrogiria unilateralSchwannoma vestibular unilateralMarcha inestableHipertonía miembro superiorTemblor postural de miembros superioresEspasticidad de los miembros superioresAnormalidad de motoneurona superiorParaganglioma vagal Auras vegetativasVentriculomegaliaConvulsiones versivasSchwannoma vestibularHipertrofia de las vellosidades del plexo coroideoComportamiento violentoAuras visualesAlucinaciones visualesAlucinaciones vívidasTemblor vocalMarcha de patoMarcha en puntillasAnomalías de la sustancia blanca de la región periventricular posteriorHeterotopía de sustancia blancaEspacio subaracnoideo cerebelar aumentadoEspacio subaracnoideo cerebelar aumentadoEspacio subaracnoideo aumentadoCalambre del escritorEspina bífida oculta en s1

Cólico abdominalDistensión abdominalDolor abdominalSitus inversus abdominalSíntomas abdominalesDefecto de la pared abdominalDebilidad muscular de la pared abdominalMorfología anormal del tracto biliarFisiología anormal del tracto biliarMorfología anormal de la vesícula biliarFisiología anormal de la vesícula biliarFisiología anormal del intestino gruesoPruebas de función hepática anormales durante el embarazoLobulación hepática anormal

Tamaño de páncreas anormalAnormalidad de situs abdominalAnormalidad de la fisiología del páncreas endocrinoAnormalidad de la fisiología del páncreas exocrinoAnormalidad de la vasculatura gastrointestinalAnormalidad de la morfología de páncreasAnormalidad de la fisiología del páncreasAnormalidad de la morfología de las vellosidades intestinalesAnormalidad del abdomenAnormalidad de la musculatura abdominalAnormalidad de los órganos abdominalesAnormalidad de la pared abdominalAnormalidad del anoAnormalidad del sistema biliarAnormalidad del diafragmaAnormalidad del colédoco Anormalidad del duodenoAnormalidad del esófagoAnormalidad de la vesícula biliarAnormalidad de la mucosa gástricaAnormalidad del tracto gastrointestinalAnormalidad de la vascularización hepáticaAnormalidad del íleonAnormalidad del intestinoAnormalidad de la vía biliar intrahepáticaAnormalidad del yeyunoAnormalidad del intestino gruesoAnormalidad del hígadoAnormalidad del mesenterioAnormalidad del páncreasAnormalidad de las células de los islotes pancreáticosAnormalidad del peritoneoAnormalidad del píloroAnormalidad del rectoAnormalidad del intestino delgadoAnomalía del bazoAnormalidad del estómagoAnormalidad del ombligoAusencia del factor intrínsecoAusencia de vesícula biliarHemidiafragma izquierdo ausenteBazo accesorioAcalasiaHeces acólicasColitis agudaEstreñimiento agudoNecrosis esofágica agudaInsuficiencia hepática agudaEsteatosis hepática agudaHepatitis aguda

Pancreatitis agudaPoliposis colónica adenomatosaAgenesia del diafragmaAgenesia del intestino delgadoAtresia analCarcinoma epidermoide del canal analFisura analFístula analLeucoplasia de la mucosa analEstenosis analPáncreas anularSistema venoso anómalo esplenoportalAnomalía anorrectal AnorexiaAno de implantación anteriorAplasia de la musculatura de la pared abdominalAplasia / hipoplasia de la musculatura de la pared abdominalAplasia / hipoplasia del colonAplasia / hipoplasia del diafragmaAplasia / hipoplasia de la vesícula biliarAplasia / hipoplasia del páncreasAplasia / hipoplasia del bazoAscitisAspleniaVesícula atrésicaHepatitis atípica o prolongadaEsófago de BarrettTumores del tracto gastrointestinal benignosDisfunción de las células betaProliferación de las vías biliaresAtresia biliarCirrosis biliarDisquinesia biliarHiperplasia biliarAnomalía del tracto biliarNeoplasia del tracto biliarObstrucción del tracto biliarVesícula bilobuladaCálculos biliares pigmentarios negrosDiverticulosis intestinalIncontinencia intestinalUrgencia intestinalCálculos biliares de pigmentarios marronesEnfermedad celíacaColecistitisColelitiasisColestasisEnfermedad hepática colestásicaCálculos biliares de colesterolHepatitis crónica activa

Gastritis atrófica crónicaPancreatitis crónica calcificanteColitis crónicaEstreñimiento crónicoDiarrea crónicaGastritis crónicaInsuficiencia hepática crónicaHepatitis crónicaHepatitis crónica por infección de cryptospridiumPancreatitis crónicaAscitis quilosaCirrosisColitisCáncer de colonAtresia colónicaDiverticulosis colónicaInercia colónicaEstenosis del colonVárices del colonPólipos colorrectalesHernia diafragmática congénitaFibrosis hepática congénitaAtresia pilórica congénitaEstreñimientoEnfermedad de CrohnQuiste de colédocoEnfermedad hepática quísticaDisminución de la función hepáticaDisminución de la actividad mitocondrial del complejo iii en el tejido hepáticoEnfermedad hepática degenerativaRetraso de auto-alimentación del niñoDenervación del diafragmaDepleción del adn mitocondrial en el hígadoTumores desmoidesEventración diafragmáticaParálisis diafragmáticaDebilidad diafragmáticaDiarreaDiástasis de rectosEsteatosis hepática difusaPólipos intestinales Atresia ileal distalAtresia duodenalAtrofia duodenalCarcinoma duodenalDivertículos duodenalesPoliposis duodenalEstenosis duodenalÚlcera duodenalColon duplicado

Duplicación de los órganos internosEctopia del bazoAno ectópicoTejido pancreático ectópicoTransaminasas hepáticas elevadasTransaminasas séricas elevadas durante infeccionesEnterocolitisHepatitis enteroviralDolor abdominal episódicoVómitos episódicosAtresia esofágicaCarcinoma de esófagoDivertículo esofágicoDuplicación esofágicaLeucoplasia esofágicaNeoplasia esofágicaObstrucción esofágicaEstenosis esofágicaEstenosis esofágicaUlceración esofágicaVárices esofágicasMembranas esofágicasEsofagitisInsuficiencia pancreática exocrinaExtrofiaAtresia de vías biliares extrahepáticasColestasis extrahepáticasHipertensión portal extrahepáticaMalabsorción de grasasInsuficiencia hepática grave infantilDificultades en la alimentaciónDificultades para alimentarse durante la lactanciaHernia femoralHepatomegalia recurrenteEsplenomegalia recurrenteInfestación frecuente por giardia lambliaInsuficiencia hepática fulminanteHepatitis fulminanteAnormalidad funcional del tracto gastrointestinalObstrucción intestinal funcionalDisfunción de la vesícula biliarDiscinesia vesicularDivertículo gástricoDuplicación gástricaHipertrofia gástricaÚlcera gástricaGastritisReflujo gastroesofágicoAngiodisplasia gastrointestinalMalformación arteriovenosa gastrointestinal

Atresia gastrointestinalCarcinoma gastrointestinalDuplicación gastrointestinalAlteración de la motilidad gastrointestinalHemorragia gastrointestinalInfartos gastrointestinalesInflamación gastrointestinalObstrucción gastrointestinalTumor del estroma gastrointestinalTelangiectasia gastrointestinalGastroparesiaGastrosquisisAlimentación por sonda de gastrostomía en la infanciaHepatitis de células gigantesGastritis hipertrófica gigantePólipos hamartomatososPólipos estomacales hamartomatososInfección por helicobacter pyloriHematemesisHematoqueciaHemobiliaHemoperitoneoAbscesos hepáticos secundarios a inmunodeficienciaAgenesia hepáticaAmiloidosis hepáticaMalformación arteriovenosa hepáticaFibrosis hepática puenteQuistes hepáticosInsuficiencia hepáticaFibrosis hepáticaGranulomatosis hepáticaNecrosis hepáticaNecrosis periportal hepáticaEsteatosis hepáticaMalformaciones vasculares hepáticasHepatitisHepatoblastomaAdenoma hepatocelularCarcinoma hepatocelularNecrosis hepatocelularHepatomegaliaHepatoesplenomegaliaCarcinoma colorrectal sin poliposis hereditariaHernia de la pared abdominalHernia del hiatoObstrucción intestinal altaPáncreas hiperecogénicoHiperperistaltismoPoliposis colónica hiperplásicaHiperesplenismo

HipoperistaltismoHipoplasia de la musculatura de la pared abdominalHipoplasia de la vesícula biliarHipoplasia del intestino delgadoColon hipoplásicoBazo hipoplásicoAtresia ilealÍleoHernia incisionalAumento del contenido de glucógeno hepáticoHígado grasoInflamación del intestino gruesoHernia inguinalDiarrea intermitenteIctericia intermitenteAtresia intestinalSangrado intestinalDuplicación intestinalEdema intestinalFístula intestinalHipoplasia intestinalLinfangiectasia intestinalLinfedema intestinalHiperplasia nodular linfoide intestinalMalrotación intestinalObstrucción intestinalPólipo intestinalPoliposis intestinalPseudo-obstrucción intestinalDiarrea intratableQuistes intrahepáticos del conducto biliarAtresia biliar intrahepáticaDisgenesia biliar intrahepáticaColestasis intrahepáticaColestasis intrahepática con ictericia episódicaIntususcepciónIctericiaAtresia yeyunalDivertículos de yeyunoDivertículos yeyunoilealUlceración yeyunoilealPoliposis colónica juvenilPoliposis juvenil gastrointestinalIntolerancia a la lactosaAcumulación de lípidos en los hepatocitosAbsceso hepáticoCirrosis macronodularEsteatosis hepática macrovesicularMalabsorciónMalformación de la placa ductal hepática

Tumores malignos del tracto gastrointestinalDesnutriciónMalposición del estómagoMalrotación de colonMalrotación del intestino delgadoÍleo mecánicoDivertículo de MeckelÍleo meconialMelenasMicrocolonMicrogastriaCirrosis micronodularEsteatosis hepática microvesicularMalrotación del intestino medioCirrosis mixtaAnormalidad morfológica del tracto gastrointestinalPólipos gástricos múltiplesMúltiples atresia del intestino delgadoRegurgitación nasalAlimentación por sonda nasogástrica en la infanciaNáuseaNáuseas y vómitosEnfermedad hepática colestásica neonatalObstrucción intestinal neonatalNeoplasia de colonNeoplasia de la vesícula biliarNeoplasia del tracto gastrointestinalNeoplasias del intestino gruesoNeoplasia hepáticaTumor de páncreasNeoplasia de rectoNeoplasia del intestino delgadoNeoplasia del estómagoHiperplasia nodular regenerativa del hígadoHernia umbilicalAdenocarcinoma de páncreasAplasia de páncreasQuistes pancreáticosDisplasia de páncreasFibrosis pancreáticaFístula pancreáticaHiperplasia pancreáticaHipoplasia pancreáticaHiperplasia de células de los islotes pancreáticosLinfangiectasias pancreáticoPseudoquiste pancreáticoCarcinoma de células escamosas de páncreasPancreatitisPancreatoblastomaÍleo paralítico

Agenesia parcial del músculo abdominalÚlcera pépticaAbsceso perianalErupción perianalFibrosis periportalAbsceso peritonealMesotelioma peritonealPeritonitisCálculos biliares pigmentadosEnfermedad hepática poliquísticaPoliespleniaFalta de apetitoSucción o lactancia deficienteFibrosis portalHipertensión portalAno de implantación posteriorVómito en proyectilIctericia neonatal prolongadaOmbligo prominenteIntolerancia a las proteínasEnteropatía por pérdida de proteínasDiarrea prolongadaAbdomen protuberanteAtresia esofágica proximalPrune bellyEstenosis pilóricaAbsceso rectalPoliposis rectalProlapso rectalInfección recurrente del tracto gastrointestinalPancreatitis recurrenteHipo recurrenteReducción del número de conductos biliares intrahepáticosReducción de las células beta pancreáticasFibrosis retroperitonealEpisodios similares al sindrome de ReyeDiarrea secretoraSitus inversus totalis Divertículos del intestino delgadoSangrado del intestino delgadoAlteración de la motilidad del intestino delgadoPólipo del intestino delgadoEstenosis del intestino delgadoDiscinesia del esfínter de oddi Ruptura esplénicaEsplenomegaliaPerforación esofágica espontáneaEsteatorreaÚlcera estercoralCáncer de estómago

Hepatitis viral progresiva subagudaBazos supernumerariosTenesmoFístula traqueoesofágicaColitis ulcerosaHernia umbilicalHernia ventralAtrofia de las vellosidadesHepatitis viralVisceromegaliaVólvuloVómitoSíndrome de Zollinger-Ellison

Obesidad abdominalRadio anormal segmento superior segmento inferiorAnormalidad de la estaturaAnormalidad del peso corporalCrecimiento asimétricoTalla baja asimétricaTalla al nacer superior al percentil 97 Talla al nacer menor del percentil 3 CaquexiaTalla baja con miembros cortosObesidad troncal de inicio en la infancia Disminución del peso corporalTalla baja desproporcionadaTalla baja desproporcionada con miembros cortosTalla alta desproporcionadaHábito eunucoideRetraso en el medroRetraso en el medro en la primera infanciaAnormalidad del crecimientoRetraso en el crecimientoAumento de peso corporalIncremento del radio segmento superior inferiorRetraso del crecimiento intrauterinoGrande para la edad gestacionalTalla baja letal con extremidades cortas Talla baja mesomélicaLeve retraso en el crecimiento intrauterinoLeve retraso en el crecimiento postnatalTalla baja leveModerado retraso en el crecimiento intrauterino Moderado retraso del crecimiento postnatalTalla baja moderadaTalla baja neonatal con miembros cortosObesidadCrecimiento excesivoRetraso del crecimiento postnatal

Talla baja proporcionalTalla alta proporcional Reducción del radio segmento superior inferiorFallo de crecimiento graveRetraso del crecimiento intrauterino grave Retraso del crecimiento postnatal grave Talla baja severaEnanismo con miembros cortos grave Talla bajaEstructura delgadaPequeño para la edad gestacionalTalla altaObesidad troncalPérdida de peso

Maduración de los melanosomas aberranteAmpollas anormales de la pielDermatoglifos anormalesElasticidad de la piel anormalExamen de laboratorio del pelo anormal Patrón anormal del cabelloCantidad anormal de cabelloEspiral anormal en el cabelloNúmero anormal de espirales peloDermatoglifos plantares anormalesPosición anormal del espiral del peloDistribución del tejido graso subcutáneo anormalAnormalidad de los melanosomas dérmicosAnormalidad de la morfología de la epidermisAnormalidad de la densidad del cabelloAnormalidad de la tasa de crecimiento del cabelloAnormalidad de la pigmentación del peloAnormalidad de la textura del cabelloAnormalidad del color de las uñasAnormalidad del vello sexual secundarioAnormalidad de anexos de la pielAnormalidad de la morfología de la pielAnormalidad de la fisiología de la pielAnormalidad de la pigmentación de la pielAnormalidad del tejido graso subcutáneoAnormalidad del vello axilarAnormalidad de las uñasAnormalidad del cabelloAnormalidad del tegumentoAnormalidad de la uñaAnormalidad de la región periunguealAnormalidad de la piel de la planta del pieAnormalidad del vello púbicoAnormalidad de la pielAnormalidad de la región subungueal

Anormalidad de la glándula del sudorAnormalidad de la uña del piePiel anormalmente débil o hiperextensibleVello axilar ausenteVello facial ausenteUña del quinto dedo de la mano ausente Quinta uña del pie ausenteUña ausentePelo ausenteAusencia de uña del halluxPigmentación ausente del abdomenPigmentación ausente de las extremidadesPigmentación ausente del tórax ventralVello púbico ausentePigmentación ausente de la piel Ausencia de uñasUña ausenteAcantólisisAcantosis pigmentariaAcumulación de melanosomas en los melanocitosAcnéPatrón anormal del vello adquiridoMelanoma lentiginoso acralAcrocianosisAcroqueratosisAdermatoglifiaApariencia leoninaAlbinismoAlopeciaAlopecia areataAlopecia totalisAlopecia universalisPúrpura anafilactoidePalidez anémicaAngioedemaAngioqueratomaAngioqueratoma difuso corporalAnhidrosisDisplasia ectodérmica anhidróticaAnoniquiaHipertricosis cervical anteriorAplasia cutis congénitaAplasia cutis congénita del vértice del cuero cabelludo en la línea mediaAplasia cutis congénita del cuero cabelludoAplasia cutis congénita en el tronco o las extremidadesAplasia cutis congénita en el área parietalAplasia cutis congénita en el área parietal posteriorAplasia cutis congénita sobre el vértice del cuero cabelludoAplasia de las glándulas sudoríparasAplasia / hipoplasia de las uñas

Aplasia / hipoplasia de la pielAplasia / hipoplasia de las glándulas sudoríparasAplasia / hipoplasia de las glándulas sudoríparas ecrinasUña aplásica / hipoplásicaÁreas de hipopigmentación e hiperpigmentación que no siguen líneas blaschkoDefectos de la piel asimétricos, linealesXantoma en piel secundario a las alteraciones de los lípidosDermatitis atópicaCicatrices atróficasAlopecia atrófica en parchesNevus atípicos (> 5 mm con borde irregular y pigmentación)Nevus atípicos en zonas no expuestas al solCicatrización atípica de la pielHiperpigmentación e hipopigmentación axilar y de la ingle Hipoplasia axilar glándular apocrina Quiste epidermoide axilarPecas axilaresCarcinoma basocelularUñas bífidasRonchas o manchas de pigmentación de la pielNevus azulCabello quebradizoPelo del cuero cabelludo frágilUñas anchasSusceptibilidad a moretonesManchas café con lecheFurunculosis crónicaCandidiasis intestinal crónicaInfección crónica de las uñas por monilias Candidiasis mucocutánea crónicaCandidiasis oral crónicaCicatrices en papel de cigarrilloHiperqueratosis unguealCabello gruesoUñas cóncavasPatrón de hipopigmentación en confeti de la piel de la piernaMáculas hipopigmentadas en confetiPatrón anormal congénito del cabelloAusencia congénita de la piel de las extremidadesAlopecia total congénitaEritrodermia congénita ictiosiforme bullosaUñas encurvada congénita del cuarto dedo del pieEritrodermia exfoliativa congénita Nevus melanocítico congénito giganteEritrodermia congénita ictiosiformeAusencia localizada de la piel congénita Eritrodermia congénita ictiosiforme no bulosaOnicodistrofia congénitaKeratodermia palmoplantar congénitaAlopecia congénita occipital posterior

Hipertricosis generalizada congénita Nevus del tejido conectivoEmpeine convexo del dorso del pie / empeineDermatitis eritematosa costrosaPelo rizadoAngiolipomas cutáneosLeiomioma cutáneoLeiomiosarcoma cutáneoMastocitosis cutáneaMelanoma cutáneoFotosensibilidad cutáneaCutis laxaPiel marmóreaCianosisCianosis eipisódicaDisminución del número de glándulas sudoríparasDisminución de la grasa subcutáneaDisminución del sudor debido a una disfunción autonómicaPliegue plantar profundo longitudinalPliegues plantares profundosUñas de implantación profundaDespigmentación / hiperpigmentación de la pielAtrofia dérmicaTranslucidez dérmicaUrticaria dermatograficaManifestaciones dermatológicas de trastornos sistémicosDescamación de la piel inmediatamente después del nacimientoDiaforesis (con feocromocitoma)Queratodermia palmoplantar difusa Atrofia cutánea difusaAtrofia cutánea difusa lentaTelangiectasia difusaLupus eritematoso discoideMáculas hiper e hipopigmentadas de 2 a 5 mmCabello secoPiel secaUñas distróficasUña de los pies distróficasCalvicie tempranaFotosensibilidad cutánea tempranaDisplasia ectodérmicaEczemaDermatitis eccematoideHipertricosis del codoHiperqueratosis epidérmicaNevus epidérmicoEngrosamiento epidérmicoQuiste epidermoideHiperhidrosis episódicaXantomas eruptivos

ErisipelaEritemaEritema nudosoEritrodermaArrugas en la piel excesivas en el dorso de las manos y los dedosExceso de piel arrugadaArrugamiento excesivo de la piel palmarEritema facialRubor facial después de la ingesta de alcoholHirsutismo facialHipertricosis facialTelangiectasia facialTelangiectasia facial con distribución en mariposaArrugas facialesPelo rubioManchas de color café con leche escasasPelo finoPigmentación de la piel reticulada finaUña displasicaTelangiectasias en las puntas de los dedosLiquenificación en zonas de flexiónAplasia dérmica focal / hipoplasiaPiel hiperextensible focalHiperqueratosis folicularHiperpigmentación de la frenteUñas frágilesPiel frágilPecas en las áreas expuestas al solPecasCalvicie frontalLipoma cutánea frontalRemolino frontal del peloUñas fusionadasAnormalidad generalizada de la pielAnhidrosis generalizadaHiperpigmentación generalizada de bronceHirsutismo generalizadoHiperqueratosis generalizadaHiperpigmentación generalizadaHipertricosis generalizadaHipopigmentación generalizadaHipopigmentación generalizada de peloHipotricosis generalizadaIctiosis generalizadaFolicular queratosis generalizadasLesiones papilares generalizadasGeneralizada marrón pigmentación reticuladaDermatitis seborreica generalizadaMelanosomas gigantes en los melanocitosNeoplasia de folículo piloso

Tallo del cabello aplanado a intervalos irregulares y retorcido en 180 grados alrededor de su ejeDisplasia ectodérmica pelo-uñasDisplasia ectodérmica hidróticaHirsutismoQueratodermia palmoplantar en panal de abejaUñas hiperconvexasUñas hiperconvexasUñas del pulgar hiperconvexasPiel hiperelásticaPiel del tórax hiperelásticaPiel de la cara hiperelásticaHiperhidrosisHiperqueratosisHiperqueratosis lenticularis perstans (enfermedad de Flegel)Hiperqueratosis sobre áreas edematosasHiperqueratosis con eritemaMácula hipermelanóticaHiperpigmentación en áreas expuestas al solHiperpigmentación de párpadosHiperpigmentación de la pielNevos hiperpigmentadosManchas lineares y nevos hiperpigmentadosManchas lineares hiperpigmentadasMáculas hiperpigmentadas/hipopigmentadasHipertricosisHipertrofia de la piel de las plantas de los piesHipohidrosisHipohidrosis/hiperhidrosisDisplasia ectodérmica hipohidróticaMáculas hipomelanóticasHipopigmentación del peloHipopigmentación de la pielManchas hipopigmentadas de la pielManchas hipopigmentadas de la piel en los brazosManchas lineares hipopigmentadasHipoplasia de la uña del quinto dedo de la manoHipoplasia de la uña del quinto dedo del pieHipoplasia de la uñaHipoplasia de las unidades pilosebáceasHipoplasia de glándulas sudoríparasHipoplasia de la uña del pulgarHipoplasia de la uñas del pieHipoplasia o ausencia de glándulas sebáceasHipotricosisHipotricosis del cuero cabelludoIctiosisHiperpigmentación de la ingle con depigmentación en gota de lluviaAumento del número de los pliegues de la pielAnomalía inflamatoria de la pielUñas encarnadas

Bucle interdigitalErupción papular eritematoso generalizada intermitenteAusencia de sudoración facial ipsilateralHiperpigmentación irregularHiperpigmentación irregular de la espaldaSeparación dermo-epidérmica al nivel de la lámina lúcidaSarcoma de KaposiQueloidesFalta de elasticidad de la pielFalta de tejido graso subcutáneoManchas café con leche con bordes irregularesDermatitis atópica de inicio tardíoMelanoma léntigo malignoLeuconiquiaLiquenificaciónDisposición linear o en rayas de hiperqueratosis macular en áreas de flexiónHiperpigmentación linearNevus sebáceo linearHiperqueratosis epidermolítica localizadaHirsutismo localizadoLesión cutánea localizadaHipertricosis lumbarHirsutismo lumbosacraDermopatía hiperpigmentada macularHipopigmentación en rayas, manchas o remolinosMáculaRayas longitudinales de hipopigmentación mediosternalAcumulación de pigmento de melanina en los tallos del cabelloNevos melanocíticosMelanoniquiaMiliaHipo e hiperpigmentación mixta de la pielPseudotumores moluscoidesMancha mongólica azuladaErupción morbiliformeMorfeaPigmentación moteadaPigmentación moteada de áreas fotoexpuestasPigmentación moteada del tronco y extremidades proximalesTelangiectasias mucosasManchas café con leche múltiplesLeiomiomas cutáneos múltiplesLesiones cutáneas malignas múltiplesLentigos múltiplesPliegues plantares múltiplesTrichilemmomas múltiplesTumores subcutáneos mixoidesTelangiectasia en lecho unguealDisplasia unguealDistrofia ungueal

Muescas punteadas (pits) en las uñasUña estrechaPiel arrugada de manos y pies neonatal Neoplasia de la uñaTumor de la pielNevoNevo de OtaNevos sebáceoMelanoma nodularUrticaria no pruriginosaQueratoderma palmoplantar no epidermolíticoNevos melanocíticos congénitos numerososNevos numerososPecas pigmentadas numerosasOnicauxia (hipertrofia de la uñas)Onicogriposis de las uñas de los piesOnicolisisOnicolisis de la región distal de las uñasCarcinoma de células escamosas de la orofaringeLipomas subcutáneos dolorososPalidezHiperhidrosis palmarHiperqueratosis palmarHiperhidrosis palmoplantarQueratoderma palmoplantarPústulas palmoplantaresPapilomaPápulaParaqueratosisParoniquiaAlbinismo parcialAlopecia en placasManchas de hipo e hiperpigmentaciónManchas de hipopigmentación del peloQueratodermia palmoplantar en placasÚlceras perforantes del pieNódulos subcutáneos periarticularesHiperqueratosis perifolicularPerifoliculitisEczema perioralPetequiasPibaldismoAnomalías de pigmentación de la piel expuesta al solPili canaliculi (pelo indomable de peinar)Pili torti (pelo ensortijado)Pliegue plantar entre el primer y segundo dedos del pieHiperqueratosis plantarFositas (pits)plantaresTelangiectasia plantarPlétora

PoiquilodermiaPoliosisMala curación de las heridasPoroqueratosisEritroderma ictiosiforme de aparición postnatalEncanecimiento prematuro del vello corporalEncanecimiento prematuro del cabelloArrugamiento prematuro de la pielAspecto prematuramente envejecidoÚlcera por presiónAmpollas pretibialesMixedema pretibialLesiones cutáneas pigmentadas profusasAspecto facial progeroideAlopecia progresivaHiperpigmentación progresivaHipotricosis progresivaHiperpigmentación reticulada progresivaVitíligo progresivoPulpejo del dedo prominenteVasos sanguíneos superficiales prominentesPruritoPsoriasisPterygium de la uñaHiperqueratosis punteada de palmas y plantasPúrpuraPústulaPiodermaPliegue cutáneo piramidal que se extiende desde la base hasta la parte superior de las uñasInfecciones bacterianas recurrentes de la pielAbscesos cutáneos recurrentesInfecciones fúngicas recurrentes de la pielPérdida o desprendimiento recurrente de la uñas de los dedos de manos y piesInfecciones cutáneas recurrentesInfecciones virales recurrentes de la pielCandidiasis vulvovaginal recurrentePelo de color rojizoPiel redundantePiel redundante en la infanciaPiel redundante en los dedosAnomalía regional de la pielHiperpigmentación reticularPigmentación de la piel reticuladaUñas de los dedos de la mano con crestasUñas con crestasHipertricosis sacraPérdida del cabello del cuero cabelludoEsclerodactiliaEsclerodermiaDermatitis seborreica

Fotosensibilidad severaPlaca de piel endurecida (Shagreen patch)Uña cortaHoyuelos cutáneos en el hombroCabello gris plateadoTricolemoma único, aisladoNeoplasia de anejo cutáneoHoyuelos cutáneos sobre prominencia óseaHoyuelos cutáneosErosión de la pielFragilidad de la piel con ampollas que no dejan cicatrizNódulo cutáneoFositas (pits) cutáneasPlaca cutáneaErupción cutáneaApéndice cutáneoÚlcera cutáneaCrecimiento lento del cabelloCrecimiento lento de las uñasUña pequeñaPiel suavePiel suave, de consistencia pastosaVello axilar escasoVello corporal escasoVello facial escasoPelo raloVello púbico escasoHemangioma en forma de arañaUña hendidaHematomas espontáneosHiperpigmentación irregular en granoHipopigmentación irregular en granoCarcinoma de células escamosasCarcinoma de células escamosas de la pielEsteatocistoma múltipleRayas de hiperqueratosis lo largo de cada dedo sobre la palmaEstrías de distensión cutáneaHemorragia subcutáneaLipoma subcutáneoNódulo subcutáneoFibromas subunguealesHiperqueratosis subunguealFragmentos de hiperqueratosis subunguealMelanoma de extensión superficialDepigmentación simétrica del dedo gordo del pieTelangiectasias en la piel expuesta y no expuesta al solTelangiectasias de las mejillasTelangiectasias que dan un aspecto de mármol a la pielTelangiectasiaTelangiectasia macularis eruptiva perstans

Telangiectasia de superficies de extensiónTeleangiectasia de la pielHipotricosis de la región temporalCabello gruesoUña gruesaEngrosamiento de la pielUña fina del dedo de la manoUña finaPiel finaUña fina del dedo del pieHipertricosis torácicaUña displásica dedo del pieTricolemomaTricodisplasiaTrichorrexis nodosaFibroma unguealUrticariaAnomalía vascular de la pielVerrugasPápula verrugosaVitíligoNecrosis cutánea inducida por warfarina-Mechón de cabello blancoPelo blancoPelo lanosoXantomatosisUñas de color amarillentoTejido subcutáneo de color amarillento cubierto por piel fina y escamosaPigmento en cúmulos gruesos de distribución irregular a lo largo del tallo del cabelloVesícula cutánea

AblefariaExpresión facial anómalaForma facial anormalBase nasal anormalMorfología nasal anormalNúmero anómalo de los incisivosNúmero anómalo de los dientes permanentesNúmero anómalo de los dientesPigmentación anómala de la mucosa oralForma anómala de la región frontalForma anómala del occipucioForma anómala de la fisura palpebralTamaño anómalo de las fisuras palpebralesAnomalía de la morfología del calvarioAnomalía del diente caninoAnomalía de las suturas cranealesAnomalía de la coloración dentalAnomalía del esmalte dentalAnomalía de la erupción dental

Anomalía de la morfología dentalAnomalía de la estructura dentalAnomalía de la dentinaAnomalía de tejido adiposo facialAnomalía de la musculatura facialAnomalía del esqueleto facialAnomalía del tejido blando facialAnomalía de las fontanelasAnomalía de la ubicación del globo ocularAnomalía del tamaño del globo ocularAnomalía de la cabeza y el cuelloAnomalía de la morfología de los incisivosAnomalía del labio inferiorAnomalía del molarAnomalía de la morfología molarAnomalía de forma de la bocaAnomalía del tamaño de la bocaAnomalía del frenillo bucalAnomalía de la mucosa oralAnomalía de la glándula parótidaAnomalía de la morfología molar permanenteAnomalía del premolarAnomalía de la morfología premolarAnomalía de la morfología molarAnomalía de los dientes primariosAnomalía de la salivaciónAnomalía de la osificación del cráneoAnomalía del tamaño del cráneoAnomalía del sentido del gustoAnomalía de los rebordes alveolaresAnomalía de la fontanela anteriorAnomalía de la bóveda cranealAnomalía del cemento dentalAnomalía de las mejillasAnomalía de la barbillaAnomalía de las coanasAnomalía del clivusAnomalía de la columelaAnomalía de la pulpa dentalAnomalía de la raíz dentalAnomalía nasal externaAnomalía de la cejaAnomalía de las pestañasAnomalía del párpadoAnomalía de la caraAnomalía de las fontanelas y suturas cranealesAnomalía del agujero occipitalAnomalía de la frenteAnomalía de la línea de implantación frontalAnomalía de los senos frontales

Anomalía de la encíaAnomalía de la glabelaAnomalía de la línea del cabelloAnomalía del paladar duroAnomalía de la cabezaAnomalía del incisivoAnomalía del labioAnomalía de la mandíbulaAnomalía de la mastoidesAnomalía del maxilarAnomalía de la sutura metópicaAnomalía del tercio medio facialAnomalía de la cavidad medionasalAnomalía de la bocaAnomalía de la musculatura del cuelloAnomalía de las fosas nasalesAnomalía del alas nasalesAnomalía del hueso nasalAnomalía del puente nasalAnomalía de la cavidad nasalAnomalía del dorso nasalAnomalía de la mucosa nasalAnomalía del tabique nasalAnomalía del esqueleto nasalAnomalía de la punta nasalAnomalía de la región nasolabialAnomalía de la nasofaringeAnomalía del cuelloAnomalía de la narizAnomalía del hueso occipitalAnomalía de la región ocularAnomalía de la cavidad oralAnomalía de la región orbitalAnomalía del paladarAnomalía de las fisuras palpebralesAnomalía del hueso parietalAnomalía de la región periorbitariaAnomalía de la faringeAnomalía del surco nasolabialAnomalía de la fosa craneal posteriorAnomalía de la premaxilaAnomalía de las glándulas salivalesAnomalía del cuero cabelludoAnomalía del pelo del cuero cabelludoAnomalía de la silla turcaAnomalía del sentido del olfatoAnomalía de los senosAnomalía del cráneoAnomalía de la base del cráneoAnomalía del paladar blando

Anomalía de las glándulas salivares sublingualesAnomalía de las glándulas salivares submandibularesAnomalía de las prominencia supraorbitariasAnomalía de los dientesAnomalía del hueso temporalAnomalía de la articulación temporomandibularAnomalía de la lenguaAnomalía de la úvulaAnomalía del arco cigomáticoAnomalía del hueso cigomáticoAnomalía del labio superiorAnomalía del bermellón del labio superiorAusencia de conducto StensenAusencia del arco de cupidoAusencia de senos etmoidalesAusencia de cejasAusencia de pestañas Ausencia de senos frontalesAusencia de pestañas internasAusencia de pestañas externasAusencia del proceso mastoideoAusencia de narinas (orificio nasales)Ausencia de puente nasalAusencia del cartílago del septo nasalAusencia de osificación de la bóveda cranealAusencia de senos paranasalesAusencia de úvulaAusencia o hipoplasia de senos paranasalesSutura craneal accesoriaFrenillo oral accesorioAcrobraquicefaliaSinusitis agudaAdenoma sebáceoErupción dental aceleradaNeumatización de los senos craneales aceleradaNeumatización acelerada de la apófisis mastoidesAgenesia del caninoAgenesia del incisivo centralAgenesia del primer molar permanenteAgenesia del incisivoAgenesia del incisivo central mandibularAgenesia del premolar mandibularAgenesia del incisivo central superiorAgenesia del incisivo lateral superiorAgenesia del premolar superiorAgenesia del molarAgenesia del incisivo central mandibular permanenteAgenesia del incisivo central superior permanenteAgenesia del incisivo lateral superior permanenteAgenesia del molar permanente

Agenesia de los dientes permanentesAgenesia del premolarAgenesia del incisivo central mandibular primariaAgenesia del incisivo central superior primariaAgenesia del incisivo lateral superior primariaAgenesia del segundo molar permanenteAusencia de lengua, aglosiaRinitis alérgicaHendidura palpebral con forma de almendraAlopecia del cuero cabelludoHipoplasia del proceso alveolarHendidura de la cresta alveolarCrecimiento excesivo del reborde alveolarAmelogénesis imperfectaAnquilobléfaronAnquiloglosiaAnodonciaAnoftalmiaAnosmiaMuescas en antegonio de la mandíbulaEncefalocele basal anteriorEncefalocele anteriorMordida abierta anteriorMordida abierta anterior con maloclusiónPlagiocefalia anteriorNarinas antevertidasAplasia del maxilarAplasia del hueso nasalAplasia de la narizAplasia de la glándula parótidaAplasia de la premaxilaAplasia / hipoplasia de párpadosAplasia / hipoplasia de los huesos del cráneoAplasia / hipoplasia de la narizAplasia / hipoplasia de los senosAplasia / hipoplasia de la cejaAplasia / hipoplasia de los senos frontalesAplasia / hipoplasia de la mandíbulaAplasia / hipoplasia del maxilarAplasia / hipoplasia del hueso nasalAplasia / hipoplasia del tabique nasalAplasia / hipoplasia de la premaxilaAplasia / hipoplasia de la lenguaAplasia / hipoplasia de la úvulaAsimetría facial con el llantoAsimetría de la mandíbulaAsimetría del maxilarAsimetría de la bocaAsimetría de las fosas nasalesCefalocele occipital

Atrofodermia vermiculataAtrofia de rebordes alveolaresEncefalocele basalImpresión basilarInvaginación basilarSinostosis bicoronalPunta de la nariz bífidaNariz bífidaLengua bífidaÚvula bífidaCraneosinostosis lambdoideaAtresia de coanas bilateralAtresia / estenosis bilateral de coanasHendidura de labio bilateralHendidura de labio y paladar bilateralHendidura de paladar bilateralMicroftalmia bilateralEstrechamiento biparietalCara de pájaroMarcas de fórceps bitemporalBlefaritisBlefarocalasiaBlefarofimosisBlefaroespasmoAbombamiento ósea paranasal BraquicefaliaBraquiturricefaliaAnomalía branquialQuiste branquialFístula branquialSeno branquialSilla turca en puenteRebordes alveolares anchosBarbilla anchaColumela anchaCeja anchaCara anchaFrente ampliaMandíbula anchaCeja lateral anchaPunta nasal anchoCuello anchoFiltro amplioReborde alveolar secundario anchoCráneo anchoÚvula anchaNariz bulbosaDientes enterrados encajonados en mucopolisacáridosHiperostosis de la calotaDientes cariados

Osificación cartilaginosa de la narizCementomaCefaloceleCese del crecimiento de la cabezaChalacionPómulos prominentesPómulos poco desarrolladosQueilitisHoyuelo en la barbillaPliegue en forma de H en la barbillaPliegue horizontal en la barbillaAtresia de coanasEstenosis de coanasBronquitis crónicaRinitis crónicaRinitis crónica debido a vía aérea nasal estrechaSinusitis crónicaHendidura de la aleta nasalhendidura del párpadoHendidura de la base del cráneoHendidura del reborde alveola inferiorHendidura de labio inferiorHendidura de la mandíbulaHendidura de la barbillaHendidura de paladarHendidura del paladar blando (velo del paladar)Hendidura del labio superiorCráneo trébolRasgos faciales toscosFosita de la comisura labialCresta nasal cóncavaDisostosis craneofacial congénitaDiplegía facial congénitaMicrocefalia congénitaTortícolis muscular congénitaIncisivo cónicoIncisivo inferior (mandibular) cónicoIncisivo superior (maxilar) cónicoIncisivo primario cónicoDiente cónicoCresta nasal convexaCraneosinostosis coronariaAsimetría cranealHiperostosis cranealAsimetría craneofacialDesproporción craneofacialDisostosis craneofacialHiperostosis craneofacialCraneosinostosisCráneo bífido oculto

Apiñamiento de incisivos superioresCriptoftalmiaPestañas rizadasHoyuelo lineal curvo debajo del labio inferiorCutis girata del cuero cabelludoCiclopiaQuiste del párpadoHigroma quísticoCalcificaciones en forma de daga de la pulpa dentariaAnomalía de Dandy-WalkerDisminución de la osificación de la bóveda cranealDisminución de la osificación del base del cráneoDisminución de la expresión facialDisminución de la osificación del cráneoDisminución del sentido del gustoFiltro profundoOjos hundidosSilla turca deformeRetraso del cierre de la fontanela anteriorRetraso del cierre de la sutura cranealRetraso en la erupción de los dientes permanentesRetraso en la erupción de los dientes primariosRetraso en la erupción de los dientesRetraso en la neumatización diferida de la apófisis mastoidesDiente dentro de un dienteAumento de la densidad ósea de la bóveda cranealApiñamiento dentalFositas o muescas (pits) del esmalte dentalMaloclusión dentalDentinogénesis imperfectaDentinogénesis imperfecta limitada a los dientes primariosDentinogénesis imperfecta de los dientes primarios y permanentesGlabela deprimidaPuente nasal deprimidoCresta nasal deprimidoPunta nasal deprimidoDermatocalasiaDesviación del tabique nasalPunta nasal desviadoDiastemaDificultad en los movimientos de la lenguaHoyuelo en la punta nasalIncisivos laterales descoloridosDistiquiasisAlteración de la expresión facialDolicocefaliaCara de muñecoDoble cejaDoble dienteHendiduras palpebrales de oblicuidad descendente

Comisuras de la boca de oblicuidad descendenteBabeoLa expresión facial limitadaEclabion o eversión del labioEctropion o eversión del párpadoEctropion del párpado inferiorImpronta elevada de los senos transversosCara de duendeSilla turca alargadaEncefaloceleNarinas aumentadasAumento del tamaño de la glándula parótidaEntropionEpiblefaronEpicantoEpicanto inversoEpistaxisEncefalocele etmoidalEuriblefaronEversión del tercio lateral del párpado inferiorEversión del bermellón del labio inferiorEversión del bermellón del labio superiorArco de cupido exageradoSurco medio de la lengua exageradoSalivación excesivaExtensión de las cejas hacia párpado superiorExtensión del crecimiento del pelo en la región temporal hacia las cejasFontanelas extraApraxia del párpadoAsimetría facialHemangioma capilar facialHendidura facialDiplejía facialApariencia facial dipléjicaEdema facialMuecas facialesHemangioma facialHiperostosis facialHipotonía facialHemangioma facial de la línea mediaMioquimia facialParálisis facialParálisis facial secundaria a hiperostosis cranealParálisis facialDeformación facialTics facialesAusencia de erupción de los dientes permanentesHigroma quístico fetalSingnatia fibrosaExpresión facial fija

Narinas anchas de forma acampanadaPerfil facial planoFrente planaAlas nasales aplanadasOccipucio planoSilla turca planaHipoplasia del hueso frontalFrente prominenteEncefalocele frontalHirsutismo frontalMordida abierta frontalDebilidad muscular de los músculos de la frenteMejillas rellenas, prominentesRelleno paranasalAumento de los surcos del dorso de la lenguaFusión de los labiosFusión de los dientesFusión de las encíasDiente bigeminadoHipoplasia generalizada del esmalte dentalMicrodoncia generalizadaPeriodontitis generalizadaGranuloma de células gigantes de la mandíbulaSangrado gingivalFibromatosis gingivalHiperqueratosis gingivalHiperplasia gingivalGingivitisGlositisGlosoptosisEsmalte dental grisáceo o descoloridoDientes de coloración verduzcaHalitosisHamartoma de la lenguaAumento de la prominencia supraorbitariaAtrofia hemifacialHipertrofia hemifacialHipoplasia hemifacialHemimacroglososiaInserción anterior del cabello posteriorFrente altaInserción alta de la columelaPaladar altoInserción posterior del cabello altaPaladar alto y estrechoAumento del arqueamiento de las cejasOrzueloOrzuelo externoOrzuelo internoCejas horizontales

Hiperostosis craneal internaHiperostosis frontal internaHipersensibilidad del cuero cabelludoHipertelorismoHipocalcificación del esmalte dentalHipodonciaInmadurez del esmalte dentalCara hipomímicaHipomineralización del esmalte dentalHipoplasia del esmalte dentalHipoplasia de la musculatura facialHipoplasia de los dientesHipoplasia de la espina nasal anteriorHipoplasia de los párpados inferioresHipoplasia del maxilarHipoplasia del hueso nasalHipoplasia de la faringeHipoplasia de los dientes primariosHipoplasia del germen del dienteHuesos faciales hipoplásicosSenos frontales hipoplásicosPuente nasal hipoplásicoTabique nasal hipoplásicoPunta nasal hipoplásicoFiltro hipoplásicoHiposmiaHipotelorismoDiente impactadoMacrodoncia de incisivoHendidura incompleta del labio superiorAumento del tejido adiposo alrededor del cuelloAumento de la longitud axial del globo ocularAumento del tejido adiposo facialAumento del número de dientesAumento de la osificación del cráneoPliegue infra-orbitarioRepliegue infra-orbitarioHiperpigmentación intraoralDientes espaciados irregularmenteSilla turca en forma de JTumor odontogénico quetaroquísticoCraneosinostosis lambdoideaNariz grande con forma de picoOjos grandesCara grandeFontanelas ampliasAgujero occipital amplioFrente ampliaFontanela posterior ampliaSilla turca grande

Ceja curvada lateralmenteCeja extendida lateralmenteSinostosis coronal izquierdaSinostosis lambdoidea izquierdaLimitación del movimiento del cuelloLimitación de la flexión del cuelloMovimiento del cuello limitadoPecas labialesHiperpigmentación de labiosFositas o muescas (pits) del labioTelangiectasia del labioLengua lobuladaHipoplasia localizada del esmalte dentalPeriodontitis localizadaCejas largasPestañas largasPestañas largas en filas irregularesCara largaCuello largoNariz largaHendidura palpebral largaFiltro largoPestañas superiores largasLabio superior largoÚvula largaPérdida de pestañasPérdida de tejido adiposo facialPérdida de expresión facialInserción anterior del cabello bajaColumela baja colganteInserción baja de la columelaInserción posterior del cabello bajaColoboma del párpado inferiorEdema del párpado inferiorFosita o muesca (pit) de labio inferiorMacrocefaliaMacrocefalia congénitaMacrocefalia debida a hidrocefaliaMacrodonciaMacrodoncia del incisivo central superior permanenteMacroglosiaFiltro con crestas mal alineadasAnomalía malarAplanamiento malarProminencia malarMalformación del premolar mandibularAplasia mandibularAplasia del cóndilo mandibularHipoplasia del cóndilo mandibularHiperostosis mandibular

Osteomielitis mandibularDolor mandibularPrognatismo mandibularDisostosis mandibulofacialRetraso marcado en la erupción de los dientes permanentesFacies de máscara MastoiditisMicrodoncia del incisivo lateral superiorHipoplasia del complejo maxilo-cigomáticoDesflecamiento medial de la cejaHendidura central de labioHendidura central de labio y paladarHendidura central del paladarAtresia membranosa de coanasMeningoencefaloceleMesiodensDepresión metópicaSutura metópica abierta hasta la raíz nasalSinostosis metópicaMicrocefaliaMicrodonciaMicrodoncia de los dientes primariosMicroglosiaMicrognatiaMicroftalmosMicrorretrognatiaHemangioma capilar del tercio medio de la caraProminencia del tercio medio de la caraRetrusión del tercio medio de la caraHemangioma capilar del medio de la frenteDefecto de la línea media de la mandíbulaDefecto de la línea media de la narizHemangioma capilar de la línea media de la caraHendidura de la línea media de la caraSurco de la línea media de la narizMuesca de la línea media del reborde alveolar superiorSeno de la línea media del filtroHoyuelos en la línea media sobre las fontanelas anterior / posteriorAtresia de la parte media de la narizEstenosis de la parte media de la narizIncisivos mal alineadosDientes mal alineadosMolarización del premolarAnomalía del movimiento de la lenguaMolar en forma de moraMúltiples dientes impactadosMúltiples dientes secundarios no erupcionadosMúltiples filas de pestañasCraneosinostosis de múltiples suturasMúltiples dientes no erupcionados

Cara miopáticaCara estrechaFrente estrechaMandíbula estrechaMaxilar estrechoBoca estrechaNarinas estrechasBase nasal estrechaPuente nasal estrechoCresta nasal estrechaTabique nasal estrechoPunta de la nariz estrechaNariz estrechaPaladar estrechoFiltro estrechoÚvula estrechaTelangiectasia de la mucosa nasalObstrucción nasalPoliposis nasalEncefalocele nasofrontalDiente natalDebilidad de la flexión del cuelloDebilidad muscular del cuelloNeoplasia de la nasofaringeNeoplasia de la narizNeoplasia de la faringeNeoplasia del labioNeoplasia de la cavidad nasalNeoplasia de la cavidad oralNeoplasia de la lenguaAusencia de dentición permanenteCambios nodulares que afectan a los párpadosHendidura no central del labioHendidura no central del paladarIncisivo central con muescaObliteración de los senos frontalesObliteración de la cámara de la pulpa dentalÁngulo obtuso de la mandíbulaEncefalocele occipitalDolor ocularNeoplasia odontogénicaOdontomaOligodonciaOligodoncia de los dientes primariosMordida abiertaBoca abiertaTeleangiectasia de la cavidad oralHendidura oralLeucoplasia oralAmpollas de la mucosa oral

Sinequia oralÚlcera oralDisfagia orofaríngeaCraneosinostosis de la órbitaQuiste de la órbitaEncefalocele de la órbitaRostro ovaladoSobremordidaPunta nasal prominente y caidaDientes maxilares salidos hacia delanteOxicefalia, forma cónica del cráneoFístula del paladarTelangiectasia del paladarEdema palpebralEstrechamiento de la hendidura palpebral en aducciónPansinostosisFosita (pit) labial paramedialHipoplasia de senos paranasalesAbombamiento parietalEncefalocele parietalForámenes parietalesParotiditisAnosmia parcialHiposmia parcialNariz en forma de peraIncisivos laterales superiores en forma de estacaRadiolucencia periapicalPeriodontitisHiperpigmentación perioralEdema periorbitarioRelleno periorbitarioHiperpigmentación periorbitariaArrugas periorbitariasPersistencia de los dientes primariosPersistencia de la fontanela anterior abiertaEdema faríngeoFiltro con un rafe en línea mediaSecuencia de Pierre-RobinPlagiocefaliaHemangioma facial en forma de placaPlatibasiaMentón afilado, barbilla puntiagudaInserción anterior del cabello en puntaAtresia posterior de coanasQuiste de fosa posteriorQuiste de fosa posterior en el cuarto ventrículoHendidura de faringe posteriorPlagiocefalia posteriorLengua de inserción posteriorHigroma quístico postnatal

Macrocefalia postnatalMicrocefalia postnatalFacies de PotterCierre prematuro de la fontanela anterior Cierre prematuro de las fontanelasErupción prematura de los dientes permanentesPérdida prematura de los dientes permanentesPérdida prematura de los dientes de leche Pérdida prematura de los dientesCierre prematuro de la fontanela posteriorProminencia premaxilarSubdesarrollo premaxilarProbóscide- Nariz en forma de trompaHipertrofia progresiva de la cresta alveolarPérdida progresiva del tejido adiposo facialMacrocefalia progresivaMicrocefalia progresivaEsclerosis progresiva de la base del cráneoProyección de pelo del cuero cabelludo en el lateral de la mejillaPliegues epicánticos prominentesPestañas prominentesFrente prominenteSenos frontales prominentesGlabela prominenteRafe medio del paladar prominenteCresta metópica prominentePuente nasal prominenteTabique nasal prominentePunta nasal prominentePliegue nasolabial prominenteNariz prominenteOccipucio prominentePliegues del paladar prominentesArcos superciliares prominentesProptosisLengua protruyenteFacies pugilísticaCalcificaciones de la pulpa dentariaLabios fruncidosEstomatitis aftosa recurrenteBronquiolitis recurrenteBronquitis recurrenteSubluxaciones mandibulares recurrentesFaringitis recurrenteSinusitis recurrenteInfecciones recurrentes del tracto respiratorio superior e inferior Infecciones recurrentes de las vías respiratorias superiores Reducción del número de dientesPiel del cuello redundanteMacrocefalia relativa

Movimiento del cuello restringido debido a contracturasPigmentación reticulada de la mucosa oralRetrocolisRetrognatiaRinitisSuturas craneales acabalgadasSinostosis unicoronal derechaSinostosis unilambdoidea derechaDientes sin raízIncisivos superiores centrales rotadosCara redondaFisuras palpebrales en forma de SCraneosinostosis sagitalNeoplasia de la glándula salivalAlopecia cicatricial del cuero cabelludoEsclerosis de la base del cráneoSuturas craneales escleróticasIncisivos en forma de destornilladorAgenesia dental selectivaPeriodontitis severaOrbitas poco profundasDientes en concha Silla turca en forma de zapato Barbilla cortaColumela cortaPestañas cortas y rizadasRaíces dentales cortasPestañas cortasCara cortaPaladar duro cortoFrenillo lingual cortoCóndilos mandibulares cortosRamas mandibulares cortasPuente nasal cortoTabique nasal cortoCuello cortoNariz cortaHendiduras palpebrales cortasSurco nasolabial cortoLabio superior cortoÚvula cortaIncisivos centrales superiores en forma de palaIncisivo superior medial únicoNarina únicaSinusitisAsimetría del cráneoDefecto craneal óseoInclinación de la hendidura palpebralExpresión facial dormidaNariz fina

Frente huidizaCrecimiento lento del pelo del cuero cabelludoFontanela anterior pequeñaCara pequeñaFosa posterior pequeña y planaFontanela pequeñaForamen magno estrechoFrente pequeñaSilla turca pequeñaDientes pequeños y cónicosFiltro lisoLengua lisaPelo escaso en zona anterior del cuero cabelludoCejas poco pobladasPestañas escasasCeja poco pobladas en su porción lateral Pestañas inferiores escasasEscasez del pelo del cuero cabelludoPestañas escasas / ausenteEspasticidad de músculos facialesAnosmia específicaEpistaxis recurrentes espontáneasCara cuadrangularEstomatitisHendidura submucosa de paladar duro Hendidura submucosa de labioHendidura submucosa de paladar blandoMejillas hundidasIncisivo maxilar supernumerarioNarina supernumerariaDefectos óseos parietales ovales, simétricosSinofridiaCúspide en garra - Diente evaginadoTaurodonciaTelangiectasia de la mucosa oralTelecantoAnquilosis de la articulación temporomandibularCrepitación de la articulación temporomandibularFiltro con forma de V invertidaBermellón labial con forma de V invertidaCrestas alveolares anteriores gruesasCeja gruesaBermellón del labio inferior gruesoAlas nasales gruesasTabique nasal gruesoBase del cráneo gruesaBermellón del labio superior gruesoBorde del bermellón gruesoBóveda craneal engrosadaEngrosamiento de los pliegues cutáneos de la nuca

Narinas antevertidas estrechasBóveda craneal estrechaBermellón del labio inferior finoBermellón del labio superior finoBorde del bermellón finoAdelgazamiento y abultamiento de los huesos de la fosa posteriorTres filas de pestañasAtrofia lingualFasciculaciones lingualesNódulos lingualesTelangiectasia lingualesTortícolisTorus palatinus - rodete palatinoAnosmia globalHiposmia globalHendidura facial transversaCara triangularBoca triangularPunta de la nariz triangularBoca abierta en forma triangular TriquiasisTrigonocefaliaTrismusAnoftalmia verdaderaTurricefaliaBermellón del labio superior en forma de UAlas nasales subdesarrolladasPliegue nasolabial subdesarrolladoArcos superciliares subdesarrolladosDiente incluidoSinostosis unicoronalSinostosis unilambdoideaHendidura unilateral de labioHendidura unilateral de paladar Parálisis facial unilateralMicroftalmia unilateralHendidura palpebral estrecha unilateralColoboma del párpado superiorEdema del párpado superiorFosita de labio superiorHendidura palpebral ascendenteComisuras bucales de inclinación superiorInsuficiencia velofaríngeaClivus verticalPliegues de la frente verticalesDebilidad del músculo orbicular de los párpadosCuello aladoApariencia de estar silbandoCeja blancaPestañas blancas

Fontanela anterior ampliaSuturas craneales anchasBoca anchaBase nasal anchaPuente nasal anchoCresta nasalNariz anchaPersistencia de la sutura coronal no osificadaFontanelas y suturas amplias Persistencia de la sutura sagital no osificadaDientes primarios ampliamente separadasDientes separadosIncisivos separadosIncisivos centrales superiores separadosFosa posterior ensanchadaPico de viudaHuesos wormianosXantelasmaXerostomíaDecoloración amarillo-marrón de los dientesArcos superciliares prominentes en adultos

Relación T3/T4 anormalSecreción pineal de melatonina anormalVolumen pineal anormalTamaño anormal de la glándula pituitariaAlteración de la morfología adrenalAlteración de la fisiología adrenalAlteración del nivel plasmático de adrenocorticotropinaAlteración del nivel plasmático de catecolaminasAlteración del nivel plasmático de corticosteronaAlteración del nivel plasmático de cortisol Alteración del nivel plasmático de glucocorticoidesAlteración del nivel plasmático de hormonas circulantesAlteración del nivel plasmático de leptinaAlteración de la morfología pinealAlteración de la fisiología pinealAlteración del sistema renina-angiotensinaAlteración de las glándulas suprarrenalesAlteración de la hipófisis anteriorAlteración del sistema endocrinoAlteración del eje hipotálamo-hipofisarioAlteración de la glándula paratiroidesAlteración de la morfología paratiroideaAlteración de la fisiología paratiroideaAlteración de la glándula pinealAlteración de la hipófisisAlteración de la hipófisis posteriorAlteración de la glándula tiroidesAlteración de la morfología del tiroides

Alteración de la fisiología tiroideaAlteración del nivel de hormonas en la orinaAusencia de desarrollo puberalAusencia de caracteres sexuales secundariosTejido tiroideo ectópico accesorioDéficit del receptor de la hormona estimulante de la tiroides (TSHR) defectoCalcificación suprarrenalAgenesia de las glándulas suprarrenalesDisgenesia de la glándula suprarrenalHiperplasia suprarrenalHipoplasia suprarrenalInsuficiencia suprarrenalHipoplasia suprarrenal medularHiperactividad suprarrenalAlteración de la corteza suprarrenalAdenoma adrenocortical Carcinoma adrenocorticalCitomegalia adrenocorticalHipoplasia adrenocorticalDéficit de hormona adrenocorticotrópica (ACTH)Exceso de hormona adrenocorticotrópica (ACTH)Insuficiencia suprarrenal por déficit de adrenocorticotropina (ACTH)Déficit del receptor (ACTHR) de Adrenocorticotropina (ACTH) Síndrome adrenogenitalAgenesia de la glándula pinealCarcinoma anaplásico de tiroidesInsuficiencia de andrógenosHipopituitarismo anteriorAgenesia hipofisaria anteriorDisgenesia hipofisaria anteriorHipoplasia hipofisaria anteriorHipoparatiroidismo autoinmuneCarcinoideInsuficiencia suprarrenal centralDiabetes insípida centralHipotiroidismo centralHipotiroidismo compensadoHiperplasia suprarrenal congénitaHipoplasia adrenal congénitaBocio congénitoHipoparatiroidismo congénitoHipotiroidismo congénitoInsuficiencia suprarrenal por déficit de hormona liberadora de corticotropina (CRH) Déficit del receptor de hormona liberadora de corticotropina (CRHR) Relación T3/T4 disminuidaDéficit del nivel de ACTH circulanteDéficit del nivel de aldosterona circulanteDéficit del nivel de cortisol circulanteDéficit del nivel de renina circulanteDisminución del volumen pineal

Disminución de estradiol séricoDéficit de leptina sérica Déficit de progesterona sérica Déficit de testosterona en varonesRetraso puberalHiperaldosteronismo primario suprimible con dexametasona Diabetes insípidaDiabetes mellitusCetoacidosis diabéticaPubertad adelantadaGlándula suprarrenal ectópicaAdenohipófisis ectópicaHipófisis anterior ectópicaParatiroides ectópicaNeurohipófisis ectópicaTiroides ectópicoNivel circulante de catecolaminas elevadoNivel circulante de hormona paratiroidea (PTH) elevadoNivel de FSH (hormona estimulante del folículo) elevadoNivel de LH (hormona luteinizante) elevadoHipófisis aumentada de tamañoBocio eutiroideoHipertiroxinemia eutiroideaBocio multinodular eutiroideoHiperinsulinemia en ayunasHipoglucemia en ayunasCarcinoma folicular de tiroidesHiperaldosteronismo primario no sensible a glucocorticoides BocioDéficit de gonadotropinaExceso de gonadotropinaEnfermedad de GravesDéficit de hormona de crecimientoExceso de hormona del crecimientoTiroiditis de HashimotoElevación de gonadotropinas urinarias (hipogonadismo primario)Adenoma tiroideo de células HurthleSistema renina-angiotensina hiperactivoHiperaldosteronismoHipercortisolismoHiperinsulinemiaHipoglucemia hiperinsulinémicaHiperparatiroidismoHiperpituitarismoHipertiroidismoHipoaldosteronismoHipocortisolemiaHipoparatiroidismoHipotiroidismoAlteración en la secreción de FSH y LH

Déficit del receptor de la hormona estimulante del tiroides (TSHR) Aumento de la relación T3/T4Aumento del nivel circulante de ACTHAumento del nivel circulante de cortisol Aumento del nivel circulante de reninaAumento del volumen pinealElevación sérica de 1,25-dihidroxivitamina D3 Elevación sérica de triyodotironina libre (fT3)Elevación sérica de serotoninaElevación del nivel de cortisol urinarioDiabetes insulino-dependiente resistente a cetosisDiabetes mellitus resistente a insulinaDiabetes mellitus resistente a insulina en la pubertadInsulinomaCarcinoide intestinalPubertad precoz isosexualInsensibilidad de las células de Leydig a la gonadotropinaTiroides lingualDisminución de gonadotropinas (hipogonadismo secundario)Baja respuesta de AMP cíclico urinario a la administración de PTHHiperplasia suprarrenal macronodularMacroprolactinomaDiabetes maternaDiabetes tipo MODYCarcinoma medular de tiroidesMicroprolactinomaBocio multinodularAdenomas pancreático de células beta múltipleDiabetes mellitus neonatal insulino-dependienteNeoplasia de la corteza suprarrenalNeoplasia de la glándula adrenalNeoplasia de la médula suprarrenalNeoplasia de la hipófisis anteriorNeoplasia del sistema endocrinoNeoplasia de la glándula paratiroidesNeoplasia de la hipófisis posteriorNeoplasia del tiroidesDiabetes insípida nefrogénicaBocio nodularAdenoma adrenocortical no secretorAdenoma de islotes pancreáticosPanhipopituitarismoCarcinoma papilar de tiroidesAumento paradójico de la secreción de cortisol en la prueba de supresión con dexametasonaAdenoma de paratiroidesAgenesia paratiroideaCarcinoma de paratiroidesDisgenesia paratiroideaHiperplasia paratiroideaHipoplasia paratiroidea

Enfermedad adrenal micronodular pigmentadaQuiste pinealCalcificación de la glándula pinealPituicitomaAdenoma acidófico de células madre hipofisariasAdenoma hipofisarioCarcinoma hipofisarioAdenoma celular corticotropo hipofisarioEnanismo hipofisarioAdenoma gonadotrófico hipófisario Adenoma hipofisario de células secretoras de hormona de crecimiento Hipotiroidismo hipofisarioAdenoma hipofisario no secretor (de células "null")Adenoma hipofisario de células secretoras de prolactina Resistencia hipofisaria a la hormona tiroideaOncocitoma hipofisario de células fusiformes Adenoma hipofisario de células tirotrópica Agenesia de hipófisis posterior Disgenesia de hipófisis posterior Hipoplasia de hipófisis posterior Pubertad precozPubertad precoz femeninaPubertad precoz masculinaAdrenarquia prematuraPubarquia prematuraTelarquia prematuraInsuficiencia suprarrenal primariaInsuficiencia gonadal primariaHiperaldosteronismo primarioHipercorticolismo primarioHiperparatiroidismo primarioHipotiroidismo primarioDéficit de prolactinaExceso de prolactinaPseudohipoaldosteronismoPseudohipoparatiroidismoFracaso de desarrollo puberal femeninoTrastornos puberales y gonadalesDéficit de hormona de crecimiento secundarioHiperaldosteronismo secundarioHipercorticolismo secundarioHiperparatiroidismo secundarioAdenoma suprarrenal secretorCarcinoide de intestino delgadoHipófisis pequeñaHiperparatiroidismo terciarioQuiste tiroglosoHiperplasia de células C tiroideas Adenoma tiroideoAgenesia tiroidea

Adenoma tiroideo atípicoCarcinoma de tiroidesCrisis tirotóxicaDefecto de la oxidación y organificación tiroidea de yoduroDisgenesia tiroideaAdenoma folicular de tiroidesHiperplasia folicular de tiroidesHemiagenesia tiroidesDefecto del receptor de la hormona tiroideaHiperplasia tiroideaHipoplasia tiroideaLinfangiectasia tiroideaAdenoma macrofolicular tiroideoAdenoma microfolicular tiroideoAdenoma papilar de tiroidesExceso de TSH (hormona estimulante de la tiroides)Déficit del receptor de la hormona estimulante de la tiroides (TSHR) TiroiditisTirotoxicosis de tejido tiroideo ectópicoTirotoxicosis con bocio difusoTirotoxicosis con bocio multinodular tóxicoTirotoxicosis con nódulo tiroideo único tóxicoDiabetes mellitus neonatal transitoriaDiabetes mellitus tipo IDiabetes mellitus de Tipo IIBocio uninodular

Contenido anormal de gránulos alfaDistribución anormal de gránulos alfaGránulos alfa anormalesSangrado anormalPrueba de hipersensibilidad cutánea retardada anormalContenido anormal de gránulos densosGránulos densos anormalesSistema tubular denso anormalHemoglobina anormalNivel anormal de inmunoglobulinas Recuento anormal de leucocitos Recuento anormal de monocitos Alteración de la fisiología de las células "natural killers"Recuento anormal de neutrófilos Número anormal de gránulos alfaNúmero anormal de gránulos densosNúmero anormal de los precursores eritroidesNúmero anormal de precursores granulocíticosRecuento anormal de plaquetas Función plaquetaria anormalGránulos plaquetarios anormalesExpresión anormal de las proteínas de la membrana plaquetariaMorfología plaquetaria anormal

Forma de las plaquetas anormalesVolumen plaquetario anormalSistema canalicular abierto conectado a la superficie anormalTrombosis anormalSangrado anormal del muñón umbilicalAlteración de la sangre y de los tejidos que forman la sangreAlteración del factor von WillebrandAlteración del número de células BAlteración de la fisiología de las células BAlteración de las células BAlteración del número de células TAlteración de la fisiología de las células TAlteración de las células TAlteración de los basófilosAlteración de la morfología celular de la médula óseaAlteración de las células estromales de la médula óseaAlteración de las células del linaje eritroideAlteración de las células del linaje mieloideAlteración de las células del linaje linfoideAlteración de las células del linaje de megacariocitosAlteración de las células del linaje de monocitos / macrófagosAlteración del fibrinógeno circulanteAlteración de la coagulaciónAlteración de los eosinófilosAlteración de los eritrocitosAlteración de los granulocitosAlteración de los leucocitosAlteración de los linfocitosAlteración de los macrófagosAlteración de los mastocitosAlteración de múltiples linajes celulares de la médula óseaAlteración de leucocitos mieloidesAlteración de las células "natural killers"Alteración de la morfología de los neutrófilosAlteración de la fisiología de los neutrófilosAlteración de los neutrófilosAlteración de los fagocitosAlteración de la protrombinaAlteración de los reticulocitosAlteración de la cascada de la coagulaciónAlteración de la vía común de la coagulaciónAlteración de la vía extrínsecaAlteración de la vía intrínsecaAlteración de las plaquetasAusencia de células T CD8 +Ausencia del antígeno Luterano en eritrocitosAusencia de gránulos alfaAusencia del "estallido respiratorio" oxidativo bactericida de los fagocitosAusencia de la inmunidad celularAusencia de las microvellosidades de la superficie de los linfocitos de sangre periférica

Ausencia de los gránulos específicos de neutrófilos Ausencia de la respuesta específica de anticuerpos AcantocitosisCoagulación intravascular diseminada agudaLeucemia agudaLeucemia linfática agudaLeucemia megacariocítica agudaLeucemia monocítica agudaLeucemia mieloide agudaLeucemia mielomonocítica agudaLeucemia promielocítica agudaAgammaglobulinemiaAgranulocitosisTrombocitopenia amegacariocíticaLinfoma anaplásico de células grandesAnemiaAnemia secundaria a la menor duración de la vida de los glóbulos rojosAnemia por producción insuficiente AnisocitosisAnisopoiquilocitosisAnemia aplásicaTrombosis arterialEliptocitosis atípicaAnemia hemolítica autoinmuneNeutropenia autoinmuneTrombocitopenia autoinmuneLinfocitopenia BLinfoma de células BMielodisplasia de dos linajesLeucemia aguda bifenotípicaHemorragia que requiere transfusión de glóbulos rojosSangrado tras trauma menor o ausencia del mismoAlteración del antígeno del grupo sanguíneo Hipocelularidad de la médula óseaCélulas espumas en la médula óseaTrombosis venosa cerebralCoagulación intravascular diseminada crónicaAnemia hemolítica crónicaLeucemia crónicaLeucemia linfática crónicaLeucemia mieloide crónicaLeucemia mielomonocítica crónicaAnemia hemolítica compensadaAgranulocitosis congénitaAnemia hemolítica congénitaAnemia hipoplásica congénitaNeutropenia congénitaTrombocitopenia congénitaAnemia hemolítica Coombs positiva Linfoma cutáneo de células T

Anergia cutáneaDisminución de la activación de células TDisminución del volumen medio de las plaquetasDisminución del número de células T CD4 +Disminución del número de células T CD8 +Disminución del receptor plaquetario P2Y12Disminución de la glicoproteína plaquetaria IIb-IIIaDisminución de la glicoproteína plaquetaria Ib-IX-VDisminución de la glicoproteína plaquetaria VITrombosis venosa profundaActivación defectuosa de células B Diferenciación defectuosa de células BApoptosis defectuosa de linfocitos Coagulación intravascular diseminadaAgranulocitosis inducida por medicamentosAnemia hemolítica sensible a fármacos DisfibrinogemiaDisgammaglobulinemiaEritropoyesis displásicaGranulopoyesis displásicaAumento de la actividad del factor V EliptocitosisEosinofiliaAnemia hemolítica episódicaMacrocitosis eritrocitariaHiperplasia eritroideHipoplasia eritroideProcesos celulares inmunes exageradosHemólisis inducida por el ejercicioHematopoyesis extramedularDeficiencia de la activación del factor XAnemia hemolítica inducida por habas (favismo)Anemia megaloblástica sensible a folato Anemia megaloblástica resistente a folatoPlaquetas gigantesHiperplasia granulocíticaHipoplasia granulocíticaGranulocitopeniaGranulomatosisAnemia de cuerpos de Heinz Neoplasia hematológicaHemoglobina BartsHemoglobina HAnemia hemolíticaHemofagocitosisTrombocitopenia inducida por heparinaHistiocitosisLinfoma de HodgkinAnemia macrocítica hipercrómicaHipercoagulabilidad

HiperfibrinogenemiaHipergammaglobulinemiaHipersegmentación de los núcleos de los neutrófilosAnemia hipocrómicaAnemia microcítica hipocrómicaHipofibrinogenemiaHipogammaglobulinemiaAnemia hipoplásicaHiposegmentation de los núcleos de los neutrófilosDéficit de IgADéficit de IgEDéficit de IgGDéficit de IgMSíntesis desbalanceada de hemoglobina Déficit de inmunoglobulina IgG2Alteración de la agregación plaquetaria inducida por ADPAlteración de la recombinación de cambio de clase de IgAlteración de la función de células TAlteración de la agregación plaquetaria inducida por ácido araquidónicoAlteración de la agregación plaquetaria inducida por colágenoAlteración de la agregación plaquetaria inducida por la epinefrinaAlteración de la transformación de linfocitos con fitohemaglutininaAlteración de la generación de memoria de células BAlteración de la actividad bactericida de los neutrófilosAlteración de la capacidad de los neutrófilos para eliminar los estafilococosAlteración de la adhesión plaquetariaAlteración de la agregación plaquetariaAlteración de la agregación plaquetaria inducida por ristocetinaAlteración de la agregación plaquetaria inducida por trombinaAlteración de la agregación plaquetaria inducida por el agonista tromboxano A2 Aumento en el número de células BAumento en el número de células TAumento del nivel de IgAAumento del nivel de IgEAumento del nivel de IgGAumento del nivel de IgMAumento de la alfa-globulinaAumento de hematocritoAumento de la hemoglobinaAumento de la afinidad por el oxígeno de la hemoglobinaAumento de volumen medio de plaquetasAumento del recuento de megacariocitosAumento de las proyecciones nucleares de los neutrófilosAumento del número de células T CD4-/CD8- que expresan receptores de células T alfa / betaAumento del número de linfocitos T periféricos CD3 + Aumento de la proporción de células T HLA DR + y CD57 +Aumento de la masa de glóbulos rojosAumento de la hemólisis de glóbulos rojos por tensión de cizallamientoAumento de la fragilidad osmótica de los glóbulos rojosAumento de la resistencia osmótica de los glóbulos rojos

Aumento de la tendencia falciforme de los eritrocitosTrombocitopenia intermitenteAnemia por déficit de hierroLeucemia mielomonocítica juvenilLeucemiaLeucocitosisLeucopeniaLinfocitosisLeucemia linfoideLinfomaLinfopeniaTrastorno linfoproliferativoAnemia macrocíticaAnemia macrocítica diseritropoyéticaEnfermedad hemolítica macrocíticaProliferación maligna de eosinófilos Reducción marcada de la función de las células TMastocitosisMegacariocitopeniaAnemia megaloblásticaMédula ósea megaloblásticaHiperplasia eritroide megaloblásticaMetahemoglobinemiaAnemia hemolítica microangiopáticaAnemia microcíticaMicroesferocitosisMonocitopeniaMonocitosisMielodisplasia de múltiples linajes Mieloma múltipleMielodisplasiaMielofibrosisLeucemia mieloideTrastorno mieloproliferativoTest de reducción de nitroazul de tetrazolio (NBT) negativoTrombocitopenia aloinmune neonatalNeutropeniaCuerpos de inclusión de neutrófilosNeutrofiliaLinfoma no HodgkinGranulomatosis de células epitelioides no caseosoAnemia hemolítica esferocíticaAnemia normocrómicaAnemia microcítica normocrómicaAnemia normocíticaAnemia hipoplásica normocíticaPancitopeniaPanhipogammaglobulinemiaDeficiencia de IgA parcialTrombosis periférica

Persistencia de la hemoglobina FSangrado persistente tras un traumatismoLeucemia linfoblástica aguda Philadelphia positivaPlasmacitomaPoiquilocitosisElevación policlonal de IgM PolicitemiaHemorragia pospartoTrombocitopenia postransfusionalLeucemia linfoblástica aguda de células pre-BAlteración inmunitaria primaria de linfocitos TSangrado prolongado tras extracción dentalSangrado prolongado tras cirugíaSangrado prolongado tras un procedimientoTiempo de sangrado prolongadoTiempo de tromboplastina parcial prolongadoTiempo de protrombina prolongadoTiempo de coagulación de sangre total prolongadoAplasia pura de células rojasAnemia sideroblástica piridoxina-sensibleAnemia megaloblástica-pirimidina sensiblePiropoikilocitosisTrombosis venosa profunda recurrenteTromboembolismo recurrenteTromboflebitis recurrenteQueratocitosis de glóbulos rojosDisminución de la síntesis de la relación alfa / betaDisminución de la actividad de antitrombina IIIDisminución de la síntesis de la relación beta/alfaDisminución de las células T auxiliares circulantesDisminución de hipersensibilidad retardadaDisminución de la actividad del factor IX Disminución de la actividad del factor VDisminución de la actividad del factor VII Disminución de la actividad del factor VIII Disminución de la actividad del factor X Disminución de la actividad de factor XI Disminución de la actividad del factor XII Disminución de la actividad del factor XIII Disminución de la Hemoglobina ADisminución de la actividad del quininógenoDisminución de expresión en la superficie linfocitaria de CD43 (sialoforina)Disminución de la actividad de las células asesinas naturalesDisminución de la actividad de la proteína CDisminución de la actividad de la proteína SDisminución de la actividad de la protrombinaDisminución del consumo de protrombinaDisminución de la cantidad de factor de von WillebrandDisminución de la actividad del factor de von WillebrandDisminución de la motilidad de los neutrófilos

Anemia refractariaAnemia refractaria con sideroblastos en anilloAnemia sideroblástica refractariaResistencia a la proteína C activadaReticulocitopeniaReticulocitosisEsquistocitosisHistiocitosis azul marino Deficiencia de IgA secretoraLinfocitopenia B severaLinfocitopenia T severaAnemia sideroblásticaMielodisplasia de linaje únicoDeficiencia específica de anticuerpos anti-polisacáridoDeficiencia de anticuerpos específicosDeficiencia específica de anticuerpos neumocócicosEsferocitosisCrisis hemolíticas espontáneasEstomatocitosisTromboflebitis superficialLinfocitopenia T severaLeucemia linfoblástica aguda de células TLinfoma / leucemia linfocítica crónica de células TLinfoma de células TLinfoma / leucemia de células T Anemia megaloblástica sensible a tiamina TrombocitopeniaTrombocitosisAccidente cerebrovascular tromboembólicoTromboembolismoTromboflebitisDeficiencia total inmunoglobulina AEritroblastopenia transitoriaHipogammaglobulinemia transitoria de la infanciaSíndrome mieloproliferativo transitorioLinfocitos vacuoladasTrombosis venosaMacroglobulinemia de WaldenstromAnemia macrocítica refractaria

Organización anormal axonemal de los cilios móvilesNiveles de gases en sangre anormalesAlteración de la morfología del par de microtúbulos centrales de los cilios móvilesAlteración de la motilidad ciliarAlteración de la lobulación pulmonar Alteración del patrón respiratorioAlteración de los conductos linfáticos pulmonares Alteración de la morfología del epitelio respiratorioAlteración de la morfología de los cilios móviles respiratoriosAlteración de la fisiología de los cilios móviles respiratorios

Alteración de la morfología de las vías Alteración del situs pulmonarAlteración del pliegue ariepiglóticoAlteración de los bronquiosAlteración de la epiglotisAlteración de la laringeAlteración del pulmónAnomalía de la pleuraAlteración del sistema respiratorioAlteración de la tráqueaAlteración del sistema traqueobronquialAlteración del tracto respiratorio superiorAlteración de las cuerdas vocalesAusencia de la morfología del par de microtúbulos central de los cilios móvilesAusencia de los rayos radiales del axonema de los ciliosAusencia de brazos de dineína internos y externos Ausencia de brazos internos de dineína Ausencia de brazos externos de dineínaAusencia/Acortamiento de brazos de dineínaAusencia/Acortamiento de brazos externos de dineínaNeumonía por aspiración agudaBronquitis agudaNeumonía infecciosa agudaInfección respiratoria agudaCarcinoma de células alveolaresProteinosis alveolarCartílago traqueal anómaloAcortamiento anteroposterior de la laringeAplasia de la epiglotisAplasia / hipoplasia de la epiglotisAplasia/hipoplasia de los pulmonesApneaEpisodios de apnea en la infanciaEpisodios de apnea precipitados por enfermedad, fatiga, estrésAspiraciónNeumonía por aspiraciónAsma inducida por aspirinaAsmaAtelectasiaEpiglotis bífidaParálisis bilateral de las cuerdas vocales Agenesia pulmonar bilateralPulmones trilobulados bilateralesParesia bilateral de las cuerdas vocalesCuerdas vocales arqueadasDisregulación de la respiraciónHipoplasia del cartílago bronquialBronquiectasiasBronquiolitisBronquiolitis obliterante

Bronquiolitis obliterante con neumonía organizadaBronquitisBroncodisplasiaQuiste broncogénicoBroncomalaciaBroncomegaliaSecuestro broncopulmonarParada cardiorrespiratoriaOsificación cartilaginosa de la laringeTráquea cartilaginosaApnea centralHipoventilación centralRespiración de Cheyne-StokesEnfermedad pulmonar crónicaEnfermedad pulmonar obstructiva crónica congénitaEnfermedad pulmonar obstructiva crónicaQuilotóraxDiscinesia ciliarMalformación adenomatoidea quística congénita del pulmónEstridor laríngeo congénito TosEnfermedad pulmonar quísticaDisminución de la función pulmonarDisminución de la sensibilidad a la hipoxemiaNeumonitis intersticial descamativaInfiltrados reticulares o nodulares finos difusosDiverticulosis de la tráqueaAlteración del brazo de dineina de los cilios móvilesDisneaEnfisemaHipoventilación episódicaDificultad respiratoria episódicaTaquipnea episódicaObstrucción episódica de la vía aérea superior Asma inducida por el ejercicioDisnea de esfuerzoSecuestro extralobarSecuestro extrapulmonarDerrame pleural exudativoEnfermedad pulmonar fibroquísticaAlteración respiratoria funcionalHemoptisisHemotóraxHipercapniaHiperoxemiaNeumonitis por hipersensibilidadHiperventilaciónHipocapniaHipoplasia de la epiglotisHipoventilación

HipoxemiaInmotilidad ciliarAlteración de la aducción de la cuerda vocalEstridor inspiratorioDebilidad muscular intercostalEpisodios intermitentes de insuficiencia respiratoria debido a la debilidad muscularHiperpnea intermitente en reposoNeumonitis intersticialEnfermedad pulmonar intersticialSecuestro intralobar Secuestro intrapulmonarRespiración irregularAtresia laríngeaCarcinoma de laringeMalformación del cartílago laríngeoHendidura laríngeaQuiste laríngeoEdema laríngeoHipoplasia laríngeaObstrucción de la laringeEstenosis laríngeaEstridor laríngeoMembrana (web) laríngeaLaringomalaciaEstenosis traquealLaringotraqueomalaciaFibroma de pulmónDefectos de la segmentación pulmonarNeumonía intersticial linfoideMúltiples neumotórax bilateralesAsfixia neonatalDisregulación de la respiratoria neonatalEstridor inspiratorio neonatalDificultad respiratoria neonatalNeoplasia de la pleuraNeoplasia de laringeNeoplasia pulmonarNeoplasia de la tráqueaTumor del sistema traqueobronquialHipoventilación nocturnaEnfermedad pulmonar obstructivaOrtopneaDisnea paroxísticaDerrame pleuralEmpiema pleuralLinfangiectasia pleuralMesotelioma pleuralPleuritisBlastoma pleuropulmonarNeumonía

NeumotóraxEstridor inspiratorio progresivoDeterioro progresivo de la función pulmonarEmbolia pulmonarFibrosis pulmonarHipoplasia pulmonarInfiltrados pulmonaresLinfangiectasia pulmonarLinfoma pulmonarSecuestro pulmonarSitus ambiguo pulmonar (heterotaxia)Situs ambiguo pulmonar (heterotaxia) con pulmones bilobulados bilaterales (2 pulmones izquierdos)Situs ambiguo pulmonar (heterotaxia) con pulmones trilobulados bilaterales (2 pulmones derechos)Situs inversus pulmonarEnfermedad veno-oclusiva pulmonarNeumonía por aspiración recurrenteInfecciones broncopulmonares recurrentesInfecciones recurrentes por aspiraciónInfecciones recurrentes del tracto respiratorio inferiorNeumonía recurrenteInfecciones respiratorias recurrentesInfecciones sinopulmonares recurrentesInfecciones recurrentes por streptococcus pneumoniaeReducción de la presión espiratoria máximaReducción de la presión inspiratoria máximaReducción de la capacidad vitalNeumotórax a repeticiónParo respiratorioDificultad respiratoriaDistrés respiratorioFallo respiratorioFallo respiratorio que requiere ventilación asistidaInfecciones respiratorias del recién nacidoInsuficiencia respiratoriaInsuficiencia respiratoria por disquinesia ciliarInsuficiencia respiratoria por debilidad muscularParálisis respiratoriaInfección del tracto respiratorioEnfermedad pulmonar restrictivaInsuficiencia respiratoria restrictivaBrazos de dineína (internos) acortadosBrazos de dineína (externos) acortadosNeumotórax espontáneo neonatalNeumotórax espontáneoEstado asmáticoEstridorEstenosis subglóticaApnea episódica súbitaTaquipneaAtresia traqueal

Estenosis traquealLeiomiomatosis traqueobronquialTraqueobronquiomegaliaTraqueobronquiomalaciaTraqueomalaciaTraqueomegaliaInfiltrados pulmonares transitoriosDerrame pleural transudativoDisgenesia pulmonar primaria unilateralParálisis unilateral de cuerda vocalParesia unilateral de cuerda vocalObstrucción de vía aérea superiorDependencia absoluta de respiración mecánicaParálisis de cuerdas vocalesParálisis de cuerdas vocales (causada por compresión)Paresia de cuerdas vocalesDebilidad de los músculos de la respiraciónHiperventilación intermitente

Electrorretinograma de conos anormalMovimiento conjugado ocular anormalDistribución anormal de las arteriolas y vénulas de la retinaElectrorretinograma anormalMorfología anormal del ojoFisiología anormal del ojoPotenciales visuales evocados (por flash) alteradosPresión intraocular anormalMovimientos oculares involuntarios anormalesPigmentación anormal del irisVasculatura anormal del irisMigración anormal de endotelio cornealFunción pupilar anormalAlteración del reflejo pupilar a la luzPliegues retinianos anormalesPigmentación anormal de la retinaAlteración del electrorretinograma de conos y bastonesEstereopsis anormalAnomalía de la membrana de DescemetAnomalía de la visión binocularAnomalía de la visión de colorAnomalía del endotelio cornealAnomalía del epitelio cornealAnomalía del tamaño cornealAnomalía del estroma cornealAnomalía del grosor cornealAnomalía del movimiento ocularAnomalía de forma del cristalinoAlteración de la pigmentación macularAlteración de la abducción ocularAlteración del seguimiento ocular

Alteración del patrón de reversión de los potenciales evocados visualesAlteración de refracciónAnomalía de las arterias de la retinaAlteración de los movimientos oculares sacádicosAlteración de movimientos oculares sacádicos de la cámara anteriorAnomalía del segmento anterior del ojoAnomalía de la coroidesAnomalía del cuerpo ciliarAnomalía de la conjuntivaAnomalía de la córneaAnomalía de la curvatura de la córneaAnomalía de los músculos extraocularesAnomalía del ojoAnomalía de la fóveaAnomalía del fondo de ojoAnomalía del globoAnomalía del irisAnomalía del conducto lacrimalAnomalía de la glándula lacrimalAnomalía del punto lacrimalAnomalía del cristalinoAnomalía de la línea de SchwalbeAnomalía de la máculaAnomalía del sistema nasolacrimalAnomalía del disco ópticoAnomalía del nervio ópticoAnomalía del segmento posterior del ojoAnomalía de la pupilaAnomalía de la retinaAnomalía del epitelio pigmentario de la retinaAnomalía de la vasculatura de la retinaAnomalía de la escleróticaAnomalía del ligamento suspensorio del cristalinoAnomalía de la malla trabecularAnomalía de la úveaAnomalía de la vasculatura de la conjuntivaAnomalía de la vasculatura del ojoAnomalía del humor vítreoAlteración de la visiónAlteración de los potenciales evocados visualesLinea de Schwalbe anormalmente prominente Electrorretinograma (ERG) abolidoAusencia de potenciales evocados visualesCámara anterior del ojo ausenteMúsculos extraoculares ausentesPunto lacrimal ausenteAusencia del epitelio pigmentario de la retinaAusencia de respuesta de conos y bastones en electroretinograma (ERG)Ausencia de seguimiento ocular lentoParches acromáticos de retina

Catarata aculeiformeCeguera nocturna (nictalopia) del adultoCatarata relacionada con la edadCatarata cortical relacionada con la edadDegeneración macular relacionada con la edadCatarata nuclear asociada con la edadCatarata subcapsular posterior asociada con la edadAlacrimiaConjuntivitis alérgicaEsotropia alternaAmaurosis fugazAmbliopíaDepósitos amiloides en el humor vítreoEstrías angioides de retinaAniridiaAnisocoriaAnisometropíaAlteración de visión tricrómicaSinequias de cámara anteriorCatarata cortical anteriorLenticono anteriorCatarata polar anteriorCatarata piramidal anteriorDisgenesia del segmento anteriorAplasia del segmento anteriorCatarata subcapsular anteriorSinequia anterior de la cámara anteriorUveítis anteriorAplasia de la fóveaAplasia de la retinaAplasia / hipoplasia del segmento anterior del ojoAplasia / hipoplasia ocularAplasia / hipoplasia del fondo de ojoAplasia / hipoplasia de la retinaAplasia / hipoplasia de la úveaAplasia / hipoplasia de la coroidesAplasia / hipoplasia de la fóveaAplasia / hipoplasia del irisAplasia / hipoplasia del cristalinoAplasia / hipoplasia de la máculaAplasia / hipoplasia del nervio ópticoAplástica / hipoplasia de glándulas lacrimales AstigmatismoAsimetría de la presión intraocularAsimetría de la pigmentación del irisPunto lacrimal atrésicoAtenuación de los vasos sanguíneos de la retinaAnomalía de AxenfeldQueratopatía en bandaDistrofia corneal en forma de banda

Coloboma de coroides bilateralMidriasis bilateral congénitaPtosis bilateralColoboma de retina bilateralManchas de Bitot de la conjuntivaCegueraMonocromacia de cono azulIris azulEscleróticas azulesVisión borrosaRetinopatía pigmentaria en forma de espículas óseasManchas de BrushfieldMaculopatía en ojo de bueyBuftalmosDistrofia del epitelio pigmentario de la retina en patrón mariposaCatarata capsularCatarataDistrofia corneal centralMicroaneurismas arteriolares del fondo de ojo centralHeterocromía centralOpacidad central de la córneaOpacidad posterior-central de la córneaExudado central de la retinaTortuosidad vascular central de la retinaEscotoma centralDistrofia central tapetoretinalEscotoma centrocecalCatarata ceruleaMovimientos oculares rápidos conjugados caóticosQuemosisMancha macular rojo cereza en la retinaAnomalía coriorretinianaAtrofia coriorretinianaColoboma coriorretinianoDisplasia coriorretinianaDistrofia coriorretinianaHipopigmentación e hiperpigmentación coriorretinianaLagunas coriorretinianasCicatrices coriorretinianasCoriorretinitisCoriorretinopatíaColoboma coroideoHemorragia coroideaDegeneración coroideaDistrofia coroideaHemangioma coroideoMelanoma de coroidesNeovascularización coroidea de la máculaEsclerosis coroideaCoroideremia

Degeneración coroidorretinianaConjuntivitis irritativa crónicaMelanoma de cuerpo ciliarColobomaElevación compensatoria de barbillaEstrechamiento concéntrico del campo visualMonocromacia de conoDistrofia de conos y bastonesSíndrome de Horner congénitoPtosis bilateral congénitaCeguera congénitaCatarata congénitaDistrofia congénita coriorretinianaDistrofia corneal congénitaExotropia congénitaAnomalía congénita de los músculos extraocularesFibrosis congénita de los músculos extraocularesGlaucoma congénitoNistagmo horizontal congénitoHipertrofia congénita del epitelio pigmentario de la retinaMiosis congénitaMiopía congénitaCatarata nuclear congénitaNistagmo congénitoAfaquia congénita primariaPtosis congénitaCeguera nocturna congénita no progresivaEstrabismo congénitoDiscapacidad visual congénitaAmiloidosis conjuntivalHamartoma conjuntivalLipoma conjuntivalNódulo conjuntivalTelangiectasia conjuntivalDepósitos blanquecinos conjuntivalesConjuntivitisReducción del campo visualCatarata coraliformeArco corneal (gerontoxon)Asimetría cornealCristales cornealesDegeneración cornealDistrofia cornealErosión cornealCórnea guttataNeovascularización cornealOpacidad de la córneaPerforación de la córneaCicatrización de la córneaEdema del estroma corneal

Ulceración de la córneaAdherencia corneolenticularCatarata corticalCatarata cortical pulverulentaDiscapacidad visual corticalDistrofia cristalina cornealDegeneración quística de la retinaDegeneración macular cistoideEdema macular cistoideDacriocistitisDisminución de la visión centralDisminución del reflejo cornealDisminución de la sensibilidad cornealDisminución del grosor de la córneaElectrooculograma (EOG) disminuídoDisminución de la amplitud en electrorretinograma (ERG)Disminución del lagrimeoDisminución con dispersión de la pigmentación de la retinaCámara anterior profundaVitreoretinopatía degenerativaCatarata cortical posterior densaFondo de ojo despigmentadoLesiones despigmentadas del epitelio pigmentario de la retinaPliegues en la membrana de DescemetDeuteranomalíaDeuteranopiaDicromaciaCatarata nuclear difusaPalidez difusa del disco ópticoDegeneración difusa de conos retimianosDiplopiaNistagmo vertical hacia abajoDrusasAnomalía de DuaneDiscromatopsiaMovimientos sacádicos dismétricosEctopia del cristalinoEctopia de pupilaPunto lacrimal ectópicoPotenciales visuales evocados (por flash) con latencia alargadaGlándulas lacrimales grandesDermoide epibulbarMembrana epirretinianaEpiescleritisEsotropiaExotropiaOftalmoplejia externaDesprendimiento exudativo de retinaRetinopatía exudativaPliegue retiniano falciforme

Pigmentación de la retina en forma de red anudadaCórnea planaInfarto focal de retinaDistrofia fovealHiperpigmentación fovealHiperplasia fovealHipopigmentación fovealFoveosquisisAtrofia del fondo de ojoNistagmo horizontal evocado (Gaze)Nistagmo evocado (Gaze)Opacidad generalizada de la córneaGlaucomaDefecto glaucomatoso del campo visualRetracción del globo y desviación en abducciónDistrofia corneal granularLacrimación gustativaHamartoma del ojoHemeralopiaVisión borrosa hemianópicaHemianopsiaHemorragia del ojoUlceración herpetiforme de la córneaHeterocromía del irisHipermetropía de alto gradoDegeneración de la retina en panalNistagmo horizontal espasmódicoNistagmo horizontalNistagmo opticocinético horizontalNistagmo pendular horizontalParálisis supranuclear horizontalSíndrome de HornerMovimientos sacádicos hipermétricosHipermetropíaFibras retinianas hipermielinizadasAstigmatismo hipermétropeHiperpigmentación del fondo de ojoRetinopatía hipertensivaHifemaMovimientos sacádicos horizontales hipométricosMovimientos sacádicos hipométricosHipopigmentación del fondo de ojoFondo de ojo hipopigmentadoHipoplasia de coroidesHipoplasia de cuerpo ciliarHipoplasia de fóveaHipoplasia del irisHipoplasia del músculo dilatador del irisHipoplasia de punto lacrimalEstroma del iris hipoplásico

Conducto lacrimal hipoplásicoDeterioro de convergenciaDeterioro de seguimiento lento horizontalAbducción ocular alteradaAducción ocular alteradaDeterioro del inicio y mantenimiento de la búsqueda visualDeterioro de seguimiento lentoAumento de la curvatura de la córneaAumento de grosor de la córneaAumento del ratio copa-discoAumento de la presión intraocularAumento del lagrimeoAumento de vascularización retinianaSubluxación inferior del cristalinoAnomalía inflamatoria del ojoUveítis intermediaSegimiento microsacádico intermitenteOftalmoplejia internaMelanoma intraocularExudado intrarretinianoCatarata subcapsular posterior iridiscenteColoboma Irido-fundalIridociclitisIridodonesisColoboma IridoretinalAtrofia del irisColoboma del irisQuiste del irisHipoperfusión del irisHipopigmentación del irisMelanoma del irisNeovascularización del irisNevus del irisDispersión del pigmento del irisDefecto de transiluminación del irisIritisMovimientos de seguimiento ocular espasmódicosCatarata juvenilCatarata cortical juvenilDistrofia epitelial corneal juvenilOpacidades lenticular subcapsular posterior juvenilCatarata zonular juvenilAnillo de Kayser-FleischerQueratitisQueratoconjuntivitisQueratoconjuntivitis siccaQueratoconoQueratogloboAplasia del conducto lacrimalAtresia del conducto lacrimal

Estenosis del conducto lacrimalAplasia de la glándula lacrimalHipoplasia de la glándula lacrimalAlteración del lagrimeoDespigmentación lacunar de la retinaCatarata lamelarCatarata lamelar pulverulentaAmplio defecto central del campo visualPuntos retinianos hiperpigmentados ampliosGlaucoma congénito de inicio tardíoDistrofia corneal Reticular (Lattice)Degeneración de retina (Lattice)Atrofia óptica de LeberColoboma de cristalinoLuxación de cristalinoSubluxación del cristalinoLenticonoLentigloboSigno de LesterLeucocoriaAtrofia del elevador del párpado superiorMovimientos extraoculares limitadosLipemia retinianaNódulos de LischPérdida de epitelio pigmentario de la retinaDistrofia retiniana macrorreticularColoboma macularDegeneración macularDistrofia macularManchas macularesAgujero macularHiperpigmentación macularHipopigmentación macularHipoplasia macularAnomalía pigmentaria en moteado de la mácula lúteaCicatrices macularesEsquisis macularMalformación de conductos lacrimalesDistrofia corneal en huella dactilarPupila de Marcus GunnDistrofia corneal marginalMegalocórneaCatarata membranosaMetamorfopsiaMicrocórneaMicrofaquiaSeguimiento microsacádicoDisminución leve de la agudeza visualMiosisMonocromacia

Nistagmo horizontal monocularDistrofia corneal central en mosaicoDistrofia corneal en mosaicoMoscas volantesHipertrofia congénita bilateral múltiple del epitelio pigmentario de la retinaMidriasisMiopíaObstrucción del conducto nasolacrimalNeoplasia del ojoNeovascularización de la retina periférica y posteriorCeguera nocturna (nictalopia)Distrofia nodular cornealNeuropatía óptica isquémica anterior no arteríticaUveitis no granulomatosaAtrofia macular no inflamatoriaCatarata congénita polimórfica no nuclearDistrofia retiniana congénita no progresivaOftalmoplejia externa restrictiva no progresivaPérdida de la visión no progresivaCatarata nuclearCataratas pulverulenta NuclearCataratas puntiforme nuclearNistagmoNistagmo inducido por movimiento de la cabeza (tipo asentimiento)Albinismo ocularApraxia oculomotoraParálisis del nervio oculomotorOpacidad del epitelio cornealOpacidad del estroma de la córneaOftalmoparesiaOftalmoplegiaOpsocloniaAtrofia ópticaAtrofia óptica por compresión del nervio cranealDrusas del nervio ópticoHipoplasia del nervio ópticoPalidez del disco ópticoAplasia del nervio ópticoColoboma del nervio ópticoCompresión del nervio ópticoDisplasia del nervio ópticoHipoplasia del nervio ópticoNeuritis ópticaNeuropatía ópticaPanuveitisPapiledemaMovimientos paroxísticos involuntarios de los ojos Aniridia parcialAtrofia irregular del epitelio pigmentario de la retinaNistagmo pendular

Retinopatía pigmentaria pericentralDistrofia retiniana pericentralRetinitis pigmentosa pericentralEscotoma pericentralAtrofia peripapilar coriorretinianaOpacidad periférica de la córneaAtrofia periférica de la retinaAvascularización retiniana periféricaDegeneración periférica de conosDegeneración periférica de la retinaDesprendimiento periférico de retinaAnomalías de pigmentación periférica de la retinaRetinopatía periféricaDesprendimiento periférico de retina por tracciónPérdida periférica del campo visualDegeneración vitreorretiniana periféricaOpacidades vítreas periféricasPersistencia de la arteria hialoideaVítreo primario hiperplásico persistenteMembrana pupilar persistenteAnomalía de PetersFacodonesisFotofobiaPtisis bulbiDepósitos de pigmento en la malla trabecularDegeneración retiniana pigmentariaDepósitos pigmentarios retinianosRetinopatía pigmentariaPigmentación de la escleróticaAtrofia coriorretiniana paravenosa pigmentadaCatarata polarPolicoriaDistrofia corneal posterior polimórficaCatarata sutural posteriorCatarata capsular posteriorCatarata cortical posterior densaEmbriotoxon posteriorLenticono posteriorCatarata polar posteriorCatarata subcapsular posteriorSinequias posteriores de la cámara anteriorUveítis posteriorCatarata presenilGlaucoma primario de ángulo cerradoGlaucoma congénito primarioGlaucoma primario de ángulo abiertoAtrofia coriorretiniana bifocal progresivaCatarata ProgresivaPérdida visual central progresivaDegeneración progresiva de conos

Oftalmoplejia externa progresivaCicatriz macular progresivaCeguera nocturna progresivaOftalmoplejia progresivaPtosis progresivaDegeneración retiniana progresivaDefecto progresivo del campo visualPérdida visual progresivaFibras nerviosas corneales prominentesProtanomalíaProtanopiaPseudoexfoliaciónPseudopapiledemaPtosisCatarata pulverulentaCataratas punctataDistrofia corneal punctataErosión punctata del epitelio cornealQueratitis punctataOpacidad punctata de la córneaAlteración de la pigmentación de la retinaErosiones corneales recurrentesOftalmoplejia externa recurrenteDiscromatopsia rojo-verdeAmplitud reducida de onda b (ERG)Amplitud reducida de los patrones en los potenciales evocados visualesReducción del número de células endoteliales de la córneaOftalmoplejia externa restrictivaOftalmoplejia externa restrictiva parcialDistrofia retiniana reticularTortuosidad arterial retinianaConstricción de las arteriolas de la retinaOclusión de las arteriolas de la retinaTortuosidad arteriolar retinianaArteritis de retinaHamartoma astrocítico de retinaAtrofia de la retinaCalcificación de la retinaAngioma cavernoso de retinaColoboma de retinaDegeneración de retinaDesprendimiento de retinaDisplasia de retinaDistrofia de retinaExudado de retinaManchas de retinaHamartoma de retinaHemangioblastoma de retinaHemorragia retinianaAgujero en la retina

Hipoplasia de retinaLesiones de retinaMalformación de retinaNeoplasia de retinaNo adhesión embrionaria de retinaPerforación de retinaAtrofia del epitelio pigmentario de la retinaDistrofia pigmentaria de la retinaEstriación de retinaTelangiectasia retinianaMalformación vascular retinianaProliferación vascular retinianaTortuosidad vascular retinianaOclusión de la vena retinianaRetinitis pigmentosaRetinitis pigmentosa inversaRetinoblastomaRetinopatíaNeuritis óptica retrobulbarDesprendimiento regmatógeno de retinaDegeneración corneal en cintaAnomalía de RiegerMonocromacia de bastonesNistagmo rotatorioSeguimiento sacádico lentoAneurismas saculares conjuntivalesRetinopatía tipo sal y pimientaEscotoma centelleanteSchwannoma escleralEscleritisEsclerocórneaEscotomaNistagmo en balancínDisplasia septo-ópticaOjos en sol ponienteMiopía severaDiscapacidad visual graveCámara anterior poco profundaHipertrofia congénita aislada unilateral del epitelio pigmentario de la retinaÁngulos de cámara anterior en forma de ranura en niñosDisminución lenta de la agudeza visualMovimientos oculares sacádicos lentosMovimientos sacádicos horizontales lentosDegeneración de retina en copo de nieveEspasmo de cabeceoDistrofia corneal moteadaRuptura espontánea del globoOftalmoparesia estáticaIris estrelladoEstrabismo

Catarata subcapsularHemorragia subconjuntivalOpacidades corneales subepitelialesExudado subretinianoPérdida visual central súbitaSubluxación superior del cristalinoAtrofia del músculo recto superiorParálisis supranuclearOftalmoplejia supranuclearCataratas suturalesDegeneración tapetoretinalDesplazamiento en dirección temporal de la máculaPalidez de región temporal del disco ópticoPupila tónicaTortuosidad de los vasos conjuntivalesCatarata totalOftalmoplejia totalDesprendimiento traccional de retinaCatarata nuclear triangularTritAnomalíaMovimientos incontrolables del ojoPtosis unilateralEstrabismo unilateralNistagmo ascendenteUveítisNistagmo verticalParálisis supranuclear verticalNistagmo vestibularDefecto del campo visualDeficiencia visualPérdida visualMaculopatía viteliformeVitreítisAnomalía vitreoretinalDegeneración vitreorretinianaDesprendimiento vítreoHemorragia vítreaMúsculos extraoculares débilesCatarata zonular

Parto anormalInserción anormal de cordón umbilicalScreening anormal en suero maternoTamaño anormal de la placentaVasos sanguíneos de cordón umbilical anormalesAnomalías de placenta y cordón umbilicalAnomalía de membrana placentariaAnomalía del desarrollo prenatal o el partoAnomalía del líquido amnióticoAnomalía de la placenta

Anomalía del cordón umbilicalAnomalía del flujo sanguíneo de la vena umbilicalAusencia de estómago en ecografía fetalAnillo de constricción amnióticoPresentación podálicaCesáreaPlacenta calcificadaCefalohematoma neonatalCorangiomaPresentación completa de nalgasDisminución de los movimientos fetalesAnillo de constricción en dígitos fetalesIntestino fetal ecogénicoFoco ecogénico intracardiaco fetalEclampsiaCisterna magna fetal aumentadaSecuencia de aquinesia fetalAscitis fetalQuistes fetales del plexo coroideoClinodactilia fetal del 5º dedoPoliuria fetalMarcador menor en la ecografía fetalParto con fórcepsPresentación de nalgas completaAlfa-fetoproteína elevada en suero maternoGonadotropina elevada en suero maternoPlacenta hidrópicaHidropesía fetalHiperemesis gravídicaHipoplasia fetal del hueso nasalPresentación de nalgas incompletaAumento de los movimientos fetalesAumento de la translucencia nucal fetalPlacenta grandeCordón umbilical largoPAPP-A baja en suero maternoAlfa-fetoproteína disminuída en suero maternoGonadotropina disminuída en suero maternoEstradiol disminuído en suero maternoAnticuerpos anticardiolipina materno positivosEnfermedad autoinmune maternaHiperfenilalaninemia maternaHipertensión maternaConvulsiones maternasExposición teratogénica maternaVirilización materna en el embarazoMeconio en líquido amnióticoHidropesía fetal no inmunitariaCordón nucalOligohidramnios

Desprendimiento de placentaInfarto placentarioPolihidramniosPreeclampsiaParto prematuroParto prematuro debido a insuficiencia cervical o fragilidad de membranasRuptura prematura de membranasAnomalía materna prenatalMovimientos prenatales anormalesAborto espontáneo recurrenteHidropesía fetal graveLongitud del fémur fetal disminuídaLongitud del húmero fetal disminuídaCordón umbilical cortoDistocia de hombrosArteria umbilical únicaInactivación preferencial del cromosoma X maternaPlacenta pequeñaAborto espontáneoToxemia del embarazoParto con ventosasParto prematuro por rotura prematura de membranas fetales

Respuesta inflamatoria anormalAlteración de la inmunidad celularAlteración de la secreción de quimioquinasAlteración del sistema del complementoAlteración de la secreción de citoquinasAlteración de la inmunidad humoralAlteración de la fisiología de proteínas séricas inmunitariasAlteración de la fisiología del sistema inmuneAlteración de la secreción de interferónAlteración de la secreción de interleuquinaAlteración del nivel de citoquinas en sueroAlteración de la vía alterna del complementoAlteración del sistema inmuneAnomalía de los ganglios linfáticosAnomalía del sistema linfáticoAnomalía de los vasos linfáticosAnomalía del timoAnomalía de las amígdalasAlteración de la secreción del factor de necrosis tumoralAusencia de centros germinales en los nódulos linfáticosAlergiaShock anafilácticoPositividad de anticuerpos antineutrófilosAnticuerpos antinucleares positivosAnticuerpos antifosfolípido positivosAplasia del timoAplasia / hipoplasia del timo

AutoinmunidadDeficiencia de C8Inmunodeficiencia celularCelulitis debido a inmunodeficienciaLinfadenopatía crónica no infecciosaComplejos inmunes circulantesInmunodeficiencia combinadaDeficiencia del complementoAlergia a la leche de vacaCrioglobulinemiaDisminución de la respuesta inflamatoriaDisminución sérica de C3 del complementoDisminución sérica de C9 del complementoDisminución sérica del factor B del complementoDisminución sérica del factor H del complementoDisminución sérica del factor I del complementoProducción anómala de citoquinas NFKB1 dependientesAgotamiento de los componentes de la vía alternativa del complementoVía alternativa del complemento disfuncionalTejido del timo ectópicoSíndrome de dermatomiositis enteroviralRetraso en el desarrollo secundario a infecciones recurrentesHiperplasia folicularLinfadenopatía generalizadaEncefalitis herpéticaHipoplasia de los vasos linfáticosHipoplasia del timoDesregulación inmuneInmunodeficienciaHipersensibilidad inmunológicaAumento de la respuesta inflamatoriaAlergia a contrastes yodadosHipoplasia de ganglios linfáticosLinfadenitisLinfadenopatíaLinfangiomaLinfadenopatía mediastinalNeoplasia del timoOnicomicosisInmunodeficiencia celular parcialDeficiencia parcial del factor H del complementoDeficiencia funcional parcial del factor D del complementoInmunodeficiencia humoral parcialAnticuerpo plaquetario positivoInfecciones recurrentes por AspergillusInfecciones recurrentes por Burkholderia cepaciaInfecciones recurrentes por E. coliInfecciones recurrentes por Haemophilus influenzaeInfecciones recurrentes por KlebsiellaInfecciones recurrentes por Neisseria

Infecciones recurrentes por Serratia marcescensInfecciones recurrentes por Staphylococcus aureusFormación recurrente de abscesosInfecciones bacterianas recurrentesInfecciones recurrentes por cándidaInfecciones recurrentes por enterovirusInfecciones recurrentes por hongosInfecciones recurrentes por bacterias gramnegativasInfecciones recurrentesInfecciones recurrentes en la infancia y la niñez tempranaEnfermedad meningocócica recurrenteInfecciones recurrentes por micobacteriasInfecciones complejas recurrentes por Mycobacterium aviumInfecciones oportunistas recurrentesInfecciones recurrentes por protozoosInfecciones recurrentes por estafilococosInfecciones piógenas sistémicas recurrentesInfecciones virales recurrentesFactor reumatoide positivoAlergia estacionalSepticemiaInmunodeficiencia severa de células TInmunodeficiencia combinada severaRecurrencia grave de varicelaInfecciones virales severasAnticuerpos de músculo liso positivosSusceptibilidad a la varicelaSusceptibilidad al coronavirus 229eSusceptibilidad al virus del herpesLupus eritematoso sistémicoSusceptibilidad a leishmaniasis tegumentariaHormona tímica disminuidaTimomaHiperplasia del timoAmigdalitis

Posición anormal de las orejasReflejos anormales del oído medioDiscriminación anormal del hablaReflejo vestíbulo-ocular anormalAnomalía de cócleaAnomalía del lóbulo de la orejaAnomalía de la cruz inferior del antihelixAnomalía de la región periauricularAnomalía del tallo del antihelixAnomalía de la cruz superior del antihelixAnomalía del antihelixAnomalía del antitragusAnomalía del conducto auditivoAnomalía del nervio coclear

Anomalía de la cruz del hélixAnomalía de la orejaAnomalía de la héliceAnomalía del yunqueAnomalía del oído internoAnomalía del conducto auditivo internoAnomalía del martilloAnomalía del oído medioAnomalía de los huesecillos del oído medioAnomalía del oído externoAnomalía del pabellón auricularAnomalía del estriboAnomalía del tragoAnomalía del nervio vestibularHélice anormalmente plegadaAusencia de reflejo acústicoAntihelix ausenteAntitrago ausenteCruz del hélix ausenteLóbulo de la oreja ausenteConducto auditivo interno ausenteMartillo ausenteEstribo ausenteCabeza del estribo ausenteTrago ausenteFunción vestibular ausenteOtitis media agudaCruz adicional del antihelixDiscapacidad auditiva neurosensorial de inicio en el adultoPérdida de la audición inducida por aminoglucósidosAntihélix anguladoAnotiaPliegues anteriores en el lóbulo de la orejaProtrusión anterior del antihélixAplasia del oído internoAplasia de los huesecillos del oído medioAplasia del canal semicircularAplasia del nervio vestibularAplasia del vestíbuloAplasia / hipoplasia de la cócleaAplasia / hipoplasia del oídoAplasia / hipoplasia de los lóbulos de las orejasAplasia / hipoplasia del oído externoAplasia / hipoplasia del oído internoAplasia / hipoplasia del oído medioAplasia / hipoplasia del tragoAsimetría de los oídosAtresia del conducto auditivo externoLóbulo de la oreja unidoAntitrago bífido

Trago bífidoDiscapacidad auditiva/hipoacusia bilateral de conducciónDiscapacidad auditiva/hipoacusia bilateral mixta o neurosensorial Rama inferior del antihelix ancha/gruesaCalcificación del cartílago auricularDiscapacidad auditiva/hipoacusia bilateral mixta o neurosensorial de inicio en la infanciaColesteatomaCondritis del pabellón auricularOtitis media crónicaHendidura en la parte superior del pabellón auricularHendidura del lóbulo de la orejaHendidura del hélixAplasia coclearDegeneración coclearMalformación coclearDiscapacidad auditiva/hipoacusia de conducciónDiscapacidad auditiva/hipoacusia de conducción congénitaFositas congénitas del lóbulo de la orejaDeficiencia auditiva/hipoacusia neurosensorial congénitaAnquilosis congénita del estriboSurco linear en hélixOreja arrugadaRaíz (crus) del hélix unida al antihélixCriptotiaOreja en tazaLesiones quísticas de los pabellones auricularesMuesca darwiniana del hélixTubérculo darwiniano del hélixConducto auditivo interno dilatadoDilatación del vestíbulo del oído internoRaíz ascendente discontinua del hélixDuplicación del tragoAcueducto coclear aumentado de tamañoCanal semicircular aumentado de tamañoAcueducto vestibular aumentado de tamañoAntitrago evertidoExostosis del conducto auditivo externoPorción terminal de la raíz (crus) del hélix anchaMalformación del oído externoAnteversión del lóbulo de la orejaAnomalía funcional del oído internoAnomalía funcional del oído medioFusión de los huesecillos del oído medioAnomalía de la audiciónDiscapacidad auditiva/hipoacusiaDiscapacidad auditiva/hipoacusia para frecuencias altasDiscapacidad auditiva/hipoacusia neurosensorial para frecuencias altasRama del hélix horizontalHiperacusiaCartílago auricular hipertrófico

Hpoplasia del antihelixHipoplasia de la cócleaHipoplasia del cartílago de la orejaHipoplasia del canal semicircularHipoplasia del nervio vestibularHipoplasia del vestíbulo del oído internoHipoplasia del hélixHipoplasia de la región superior del hélixPartición incompleta de la cócleaPartición incompleta del tipo cóclea IPartición incompleta del tipo cóclea IIDiscapacidad auditiva/hipoacusia neurosensorial infantilLóbulo de la oreja grandeOrejas grandes y carnosasAumento del vello del hélix del pabellón auricularHipoplasia del tercio superior del pabellón auricularPérdida auditiva para bajas frecuenciasDeficiencia auditiva/hipoacusia neurosensorial para bajas frecuenciasOrejas de implantación bajaOrejas de implantación baja y con aumento de la rotación posteriorMacrotiaMicrotiaMicrotia de primer gradoMicrotia de segundo gradoMicrotia de tercer gradoPérdida auditiva para frecuencias mediasDiscapacidad auditiva/hipoacusia de conducción leveDiscapacidad auditiva/hipoacusia leve Discapacidad auditiva/hipoacusia neurosensorial leveDiscapacidad auditiva/hipoacusia mixtaDiscapacidad auditiva/hipoacusia de conducción moderadaDiscapacidad auditiva/hipoacusia moderadaDiscapacidad auditiva/hipoacusia neurosensorial moderadaAnomalía morfológica del oído internoAnomalía morfológica del oído medioAnomalía morfológica de los nervios del oído internoAnomalía morfológica del canal semicircularAnomalía morfológica del vestíbulo del oído internoConducto auditivo interno estrechoNeoplasias del oídoNeoplasia del oído medioOtitis mediaOtosclerosisSobreplegamiento del hélixSobreplegamiento de la parte superior del hélixVértigo paroxísticoFositas cutáneas periauricularesPersistencia de la arteria estapedial Hélix en puntaPoliotia

Fosita cutánea postauricularApéndice cutáneo postauricularFosita cutánea en zona posterior del hélixOrejas con aumento de la rotación posteriorDeficiencia auditiva/hipoacusia neurosensorial postlingualFosita cutánea preauricularSurco cutáneo preauricularApéndice cutáneo preauricularDiscapacidad auditiva/hipoacusia neurosensorial prelingualDiscapacidad auditiva/hipoacusia profundaDiscapacidad auditiva/hipoacusia neurosensorial profundaDiscapacidad auditiva/hipoacusia de conducción progresivaDiscapacidad auditiva/hipoacusia progresivaDiscapacidad auditiva/hipoacusia neurosensorial progresivaAnti-hélix prominenteAnti-trago prominenteCrus del hélix prominenteHélix prominenteRama inferior del antihélix prominenteTallo del antihélix prominenteRama superior del antihélix prominente Trago prominenteOreja prominente, despegadaAcúfeno pulsátilAcúfeno pulsátil (paraganglioma timpánico)Otitis media recurrenteOreja de forma redondaDiscapacidad auditiva/hipoacusia neurosensorialCrus del hélix con forma sinuosaTallo del hélix con forma sinuosaDiscapacidad auditiva/hipoacusia de conducción grave o severaDiscapacidad auditiva/hipoacusia grave o severaDiscapacidad auditiva/hipoacusia neurosensorial grave o severaAbertura del conducto auditivo externo en forma de hendiduraLóbulo de la oreja pequeñoOreja de StahlAnquilosis del estriboEstenosis del conducto auditivo externoDesplazamiento superior de la orejaFosita cutánea suprauricularSinotiaTelangiectasia de la orejaOrejas gruesasHélix gruesoHélix delgadoTinnitusFusión de la raíz del hélix con la rama inferior del antehélixDiscapacidad auditiva/hipoacusia transitoriaCriptotia tipo ICriptotia tipo II

Desarrollo insuficiente del anti-tragoDesarrollo insuficiente del crus del hélixDesarrollo insuficiente de la rama inferior del antihélixDesarrollo insuficiente del tallo del antihélixDesarrollo insuficiente de la rama superior del antihélixDesarrollo insuficiente del tragoDesarrollo insuficiente del hélixDesarrollo insuficiente de la parte superior del hélixSordera unilateralDeformidad unilateral del oído externoLóbulo de la oreja evertidoVértigoArreflexia vestibularDisfunción vestibularHipofunción vestibular

Anomalía del contenido de glucógeno muscularTono muscular anómaloAnomalía de las fibras muscularesAnomalía de la morfología muscularAnomalía de la fisiología muscularAnomalía del tamaño de la fibra muscular esqueléticaAnomalía del músculo pectoralAnomalía de la musculatura glúteaAnomalía de la musculatura de la caderaAnomalía de la musculaturaAnomalía de la musculatura de la pelvisAnomalía de la musculatura del tóraxAusencia del músculo pectoral menorAtrofia muscular espinal infantil agudaRabdomiolisis agudaRabdomiolisis inducida por el alcoholAmiotrofiaAmiotrofia de la musculatura de la pelvisRabdomiólisis inducida por la anestesiaAplasia de la musculaturaAplasia / hipoplasia de la musculaturaAplasia / hipoplasia de la musculatura de la pelvisHipotonía de una o más extremidadesRigidez muscular de miembro asimétricaVacuolas autofágicasRigidez muscular axialDebilidad muscular axialCalcinosisFibras del músculo esquelético con núcleo de localización centralCalambres en las manos causadas por el fríoCalambres musculares causados por el fríoMiotonía sensible al fríoAusencia congénita de los músculos de los glúteosDistrofia muscular congénita

Disminución de la actividad de la citocromo C oxidasa en el tejido muscularDisminución del contenido de glucógeno muscularDisminución de la masa muscularDepleción de ADN mitocondrial en el tejido muscularDepósitos inmunorreactivos a la proteína beta-amiloideCuerpos de inclusión de desminaDificultad para subir escalerasDificultad para correrDificultad para manterse de pieAmiotrofia distalAmiotrofia distal de extremidad inferiorDebilidad muscular distal de extremidad inferiorDebilidad muscular distalDebilidad muscular distal de extremidad superiorAnomalía del EMGEMG: alteración axonalEMG: signos de denervación crónicaEMG: actividad motora continua en reposoEMG: respuesta decreciente del potencial de acción muscular compuesto (CMAP) de la estimulación nerviosa repetitivaEMG: Transmisión neuromuscular alteradaEMG: anomalías miopáticosEMG: descargas miotónicaEMG: descargas miotónicas en trenes o salvasEMG: cambios neuropáticosEMG: conducción motora lentaDebilidad flácida episódicaHipotonía generalizada episódicaIntolerancia al ejercicioCalambres en las piernas inducidos por el ejercicioCalambres musculares inducidos por el ejercicioFatiga muscular inducida por el ejercicioRigidez muscular inducida por el ejercicioMialgia inducida por el ejercicioRabdomiólisis inducida por ejercicioHipertrofia muscular facialMúsculos firmesAtrofia del primer músculo interóseo dorsalDebilidad del primer músculo interóseo dorsalProblemas motores funcionalesAmioplasia generalizadaAmiotrofia generalizadaHipotonía generalizadaAtrofia muscular generalizada de miembroHipertrofia muscular generalizadaDebilidad muscular generalizadaAspecto musculoso generalizado desde el nacimientoHipotonía neonatal generalizadaSigno de GowersMiotonía al apretar la manoDebilidad de la flexión de la cadera

Hipoplasia del músculo dorsal anchoHipoplasia del músculo serrato anteriorHipoplasia de la musculaturaAumento de tejido conectivo endomisialAumento de gotas de lípidos intramiocelularesAumento de la fatigabilidad muscularContenido aumentado de glucógeno muscularContenido aumentado de lípidos en tejido muscularAumento de la variabilidad en el diámetro de la fibra muscularHipotonía axial infantilHipotonía muscular infantilMiopatía inflamatoriaAtrofia del músculo interóseoHematoma intramuscularDebilidad muscular distal de inicio tardíoDistrofia muscular de inicio tardíoDebilidad muscular proximal de inicio tardíoRigidez muscular de las piernasMiopatía mitocondrial infantil letalDebilidad muscular de extremidadesAtrofia muscular de cinturasDebilidad muscular de cinturasDistrofia muscular de cinturasAmiotrofia de miembro inferiorDebilidad muscular de miembro inferiorHipertrofia muscular marcadaMiopatía minicore (multicore)Miopatía mitocondrialFibras musculares "comidas por polilla" (moutheaten)Deleciones múltiples del ADN mitocondrialAnomalía muscular relacionada con disfunción mitocondrialCalambres muscularesAtrofia de fibras muscularesCuerpos de inclusión citoplasmática en la fibra muscularCuerpos hialinos en la fibra muscularHipertrofia de la fibra muscularCuerpos de inclusión en la fibra muscularCuerpos de inclusión intranucleares en la fibra muscularNecrosis de la fibra muscularDivisión de fibras muscularesInclusiones tubulares en la fibra muscularInclusiones tubulorreticulares en la fibra muscularFlaccidez muscularHiperirritabilidad muscularHipertrofia muscularHipertrofia muscular de extremidades inferioresEdema muscularRigidez muscularDebilidad muscularDistrofia muscular

Hipotonía muscularHipotonía muscular del troncoMialgiaMiopatía miofibrilarMiopatíaMiositisMiotoníaMiotonía de la caraMiotonía de la mandíbulaMiotonía de la extremidad inferiorMiotonía de la extremidad superiorMiotonía con fenómeno de calentamientoHipertrofia del músculo del cuelloHipoplasia del músculo del cuelloMiopatía necrotizanteCuerpos de nemalinaHipotonía neonatalAtrofia muscular no progresivaMiotonía paradójicaHipertrofia del músculo paraespinalParesia de los músculos extensores del dedo gordo del pieAmiotrofia de músculo pectoralAmiotrofia de músculo pectoral mayorAmiotrofia de cintura pélvicaAtrofia muscular de cintura pélvicaDebilidad muscular de cintura pélvicaMiotonía inducida por la percusiónContracciones musculares de balanceo rápido inducidas por la percusión (PIRC)Atrofia muscular perifascicularDebilidad muscular peronealMal control del tono de cuello y cabezaDebilidad muscular distal progresivaAtrofia muscular distal progresivaDebilidad muscular progresivaDebilidad muscular proximal progresivaAtrofia muscular espinal progresivaAmiotrofia proximalRigidez muscular proximal de las extremidadesDebilidad muscular proximalDebilidad muscular proximal de extremidades inferioresDebilidad muscular proximal de extremidades superioresAtrofia muscular espinal proximalAmiotrofia proximal de miembro superiorDebilidad muscular de cuádricepsFibras musculares rojas rasgadasRabdomiolisisVacuolas festoneadasFibras en anilloHipertrofia muscular escapularDistrofia muscular escapulohumeral

Amiotrofia escapuloperonealDebilidad escapuloperonealAtrofia muscular espinal segmentariaHipotonía muscular severaHipotonía neonatal severa en varonesAtrofia muscular de la cintura escapularInfiltración grasa del músculo esqueléticoMiopatía esqueléticaAtrofia muscular espinalAmiotrofia esternocleidomastoideaAcumulación en subsarcolema de mitocondrias de forma anómalaTetaniaDebilidad muscular de la eminencia tenarHipertrofia del musloAtrofia de músculo tibialDebilidad del músculo tibialFibras musculares tipo 1 y tipo 2 con regiones minicoreFibras tipo 1 relativamente más pequeñas que las de tipo 2Atrofia de fibra muscular tipo 1Predominio de fibra muscular tipo 1Atrofia de fibra muscular tipo 2Predominio de fibra muscular tipo 2Ausencia unilateral del músculo pectoral mayorHipoplasia unilateral del músculo pectoral mayorDebilidad muscular del miembro superiorRabdomiólisis inducida por infección viral

Anomalía de fibras de SharpeyAnomalía del tejido adiposoAnomalía del tejido conjuntivoAnomalía de la fasciaAusencia de grasa subcutáneaAusencia de grasa subcutánea en todo el cuerpo excepto en las nalgas, caderas y muslosPérdida de tejido adiposoCelulitisLipodistrofia congénita generalizadaDisminución del tejido adiposo alrededor del cuelloEntesopatía, entesitis (inflamación de las inserciones)FascitisLipodistrofia generalizadaHernia genitalHerniaAumento de tejido adiposoAumento de tejido conectivoAumento de la grasa intraabdominalAumento de la grasa intramuscularAumento de tejido adiposo subcutáneo del troncoAusencia de grasa subcutánea facialLipoatrofiaLipodistrofia

Pérdida de tejido adiposo subcutáneo glúteoPérdida de tejido adiposo subcutáneo de miembros superioresPérdida de tejido adiposo subcutáneo en las extremidadesPérdida de tejido adiposo subcutáneo del troncoGrasa subcutánea escasaAusencia casi completa de tejido adiposo metabólicamente activo (subcutáneo, intrabdominal, intratorácico)PaniculitisDisminución del tejido adiposo subcutáneoCicatrización anormal

Anomalía de la mamaAnomalía del pezónPezones ausentesAplasia / hipoplasia de los senosAplasia / hipoplasia de los pezonesAsimetría mamariaHipoplasia bilateral de la mamaAplasia de mamaCarcinoma de mamaHipertrofia mamariaHipoplasia mamariaFibroma de la mamaGalactorreaGinecomastiaAreola hipoplásicaPezones hipoplásicosPezones invertidosBaja inserción de los pezonesCarcinoma de mama multifocalNeoplasia de mamaPezones prominentesPezones supernumerariosHipoplasia de mama unilateralDistancia intermamilar aumentada

Anomalía de la vozVoz con tono anormalmente bajoMaullido de gatoVoz aguda o de tono altoLlanto roncoVoz roncaVoz ronca (causada por compresión tumoral)Voz hiponasalPérdida de la vozVoz nasalDificultades de articulación del hablaLlanto débilVoz débil

Rabdomiosarcoma alveolar

Sarcoma de partes blandas de aspecto alveolarAngiofibromasAngiosarcomaLeiomiomatosis difusaNeoplasia embrionariaRabdomiosarcoma embrionarioSarcoma de EwingNeoplasia facialFibromaFibrosarcomaHamartoma fibrosoNeoplasia del tejido fibrosoHamartomaHistiocitomaLeiomiosarcomaLipomaTumor lipomatosoLiposarcomaMesotelioma malignoMelanomaAngiosarcoma metastásicoNeoplasia de la bocaLipomas múltiplesLiposarcoma mixoideNeoplasiaNeoplasia clasificada según localización anatómicaNeoplasia clasificada según tipo histologíaTumor de tejido grasoNeoplasia de cabeza y cuelloTumor de músculo estriadoNeoplasia del aparato respiratorioNeurofibrosarcomaQuemodectomas retroperitonealesRabdomiomaRabdomiosarcomaLipoma sacroSarcomaSarcoma sinovialNeoplasia traqueal

Disminución de la flexión de la columna cervical debido a contracturas de los músculos cervicales posteriores

Montículo con forma de joroba de hueso en las partes centrales y posterior de la placa terminal vertebral

Corazón biventricular con cabalgamiento entre la válvula atrioventricular derecha parcial y ausencia de conexión atrioventricular del lado izquierdo

Doble salida ventricular derecha con doblemente comprometida defecto septal ventricular y estenosis pulmonarDoble salida ventricular derecha con doblemente comprometida defecto septal ventricular sin estenosis pulmonarDoble salida ventricular derecha con la no-comprometida defecto septal ventricular y estenosis pulmonarDoble salida ventricular derecha con la no-comprometida defecto septal ventricular sin estenosis pulmonar

Lado derecho de la aurícula al ventrículo izquierdo y conexión atrioventricular del lado izquierdo ausente

Codificación Sugerida

EMG: respuesta decreciente del potencial de acción muscular compuesto (CMAP) de la estimulación nerviosa repetitiva

Ausencia casi completa de tejido adiposo metabólicamente activo (subcutáneo, intrabdominal, intratorácico)

Coordination

Spanish team

Colombian team

Prof. Pablo LapunzinaINGEMM-Institute of Medical and Molecular Genetics-IdiPAZ-CIBERER-Autónoma University- Madrid-SpainPaseo de la Castellana 261-28046-Madrid-Spainpablo.lapunzina@salud.madrid.org

Dr. Sixto García-MiñaurINGEMM-Institute of Medical and Molecular Genetics-IdiPAZ-CIBERER-Autónoma University- Madrid-SpainPaseo de la Castellana 261-28046-Madrid-Spain

Prof. Ignacio ZaranteDirector-Department of Phsyological ScienceSchool of MedicinePontificia Universidad JaverianaColombia

Dr. Fernando Santos SimarroINGEMM-Institute of Medical and Molecular Genetics-IdiPAZ-CIBERER-Autónoma University- Madrid-SpainPaseo de la Castellana 261-28046-Madrid-Spain

Dr. Víctor Martínez-GlezINGEMM-Institute of Medical and Molecular Genetics-IdiPAZ-CIBERER-Autónoma University- Madrid-SpainPaseo de la Castellana 261-28046-Madrid-Spain

Dr. Paula Margarita Hurtado VillaDirector- Department of Basic Science of HealthSccoll of Health SciencePontificia Universidad Javeriana-CaliColombia

Dr. Yeinny Pilar GuatibonzaClinical Geneticist Pontificia Universidad JaverianaColombia

Paloma Lapunzina SolerSchool of MedicineSan Pablo CEU UniversityUrbaización MontepríncipeMadrid-Spain

Dr. Ana Isabel SánchezPontificia Universidad JaverianaColombia