UPPER LIMBS

London dysmorphology to Human Phenotype Ontology Mapping

Upper limbs, general abnormalities

LDD IDNameHPO TermHPO IDComment
22.1.0Upper limbs, general abnormalitiesAbnormality of the upper limbsHP:0002817-
22.1.1Absent upper limbsAmelia involving the upper limbsHP:0009812-
22.1.2Acromelia of upper limbsAcromelia of the upper limbsHP:0010482-
22.1.3Asymmetric arms--Wouldnt it be better to say asymmetric shortening or asymmetric hypertrophy?
22.1.4Constriction rings of armsAmniotic constriction rings of armsHP:0010483-
22.1.5Hypertrophy of upper limbHypertrophy of the upper limbHP:0010484-
22.1.6Mesomelia of upper limbsMesomeliaHP:0003027-
22.1.7Reduction deformity of arms, no digits--Is this term OK? Peromelia involving the upper limbs (HP:0009814)
22.1.8Reduction deformity of arms, some digits--Is this term OK? Peromelia involving the upper limbs (HP:0009814)
22.1.9Rhizomelia of upper limbsRhizomelic shorteningHP:0002968-
22.1.10Proportionate short arms--There are a number of HPO terms that cover this including Hypoplasia involving bones of the upper limbs and other more detailed terms. (HP:0009824)

Shoulder joint, general abnormalities

LDD IDNameHPO TermHPO IDComment
22.2.0Shoulder joint, general abnormalitiesAbnormality of the shoulderHP:0003043-
22.2.1Shoulder dislocationShoulder dislocationHP:0003834-
22.2.2Limited movement of shoulderLimited shoulder movementHP:0006467-
22.2.3Synostosis of shoulder joint--This seems to be very rare. Is cleidoscapular synostosis meant?
22.2.4Glenoid hypoplasiaGlenoid hypoplasiaHP:0006633-

Humerus, general abnormalities

LDD IDNameHPO TermHPO IDComment
22.3.0Humerus, general abnormalitiesAbnormality of the humerusHP:0003063-
22.3.1Bowed humerusBowed humerusHP:0003865-
22.3.2Bifid distal humerusBifid humerusHP:0003864-
22.3.3Hypoplastic or absent humerusAplasia/Hypoplasia of the humerusHP:0006507-

Elbow, general abnormalities

LDD IDNameHPO TermHPO IDComment
22.4.0Elbow, general abnormalitiesAbnormality of the elbowHP:0009811-
22.4.1Cubitus valgusCubitus valgusHP:0002967-
22.4.2Dislocated elbowElbow dislocationHP:0003042-
22.4.3Limited movement/flexion deformity of elbow--Composite LDDB Term! Limited elbow movement (HP:0002996) and Elbow contractures (HP:0002987)
22.4.4Webbing at elbowAntecubital pterygiumHP:0009760-
22.4.5Hyperextensibility at elbowHyperextensibility at elbowHP:0010485-
22.4.6Elbow joint/radio-humeral synostosisHumeral radial synostosisHP:0003936-

Forearm, general abnormalities

LDD IDNameHPO TermHPO IDComment
22.5.0Forearm, general abnormalitiesAbnormality of the forearmHP:0002973-
22.5.1Madelung deformityMadelung deformityHP:0003067-
22.5.2Hypoplastic or absent radiiHypoplasia of the radiusHP:0002984-
22.5.3Bowed radiusRadial bowingHP:0002986-
22.5.4Restriction of supination/pronationLimited pronation/supination of forearmHP:0006394-
22.5.5Radio-ulnar synostosisRadioulnar synostosisHP:0002974-
22.5.6Bowed ulnaBowed ulnaHP:0003031-
22.5.7Hypoplastic or absent ulnaAplasia/Hypoplasia of the ulnaHP:0006495-
22.5.8Long ulnaLong ulnaHP:0003988-

Wrist, general abnormalities

LDD IDNameHPO TermHPO IDComment
22.6.0Wrist, general abnormalitiesAbnormality of the wristHP:0003019-
22.6.1Dislocated wristDislocated wristHP:0003994-
22.6.2Flexion deformity at wrist---
22.6.3Hyperextensibility at wristHyperextensibility at wristsHP:0005072-
22.6.4Limited movement of wristLimited wrist movementHP:0006248-