Human Phenotype Ontology 
Grandparent Node:
expandAbnormal epiphysis morphology of the phalanges of the hand (HP:0005920)help
Grandparent Node:
expandAbnormal thumb morphology (HP:0001172)help
Parent Node:
expandAbnormality of the distal phalanx of the thumb (HP:0009617)help
Parent Node:
expandAbnormality of the epiphyses of the distal phalanx of finger (HP:0010243)help
Parent Node:
expandAbnormality of thumb epiphysis (HP:0009599)help
..Starting node
..expandAbnormality of the epiphysis of the distal phalanx of the thumb (HP:0009662)help
Term ID: 9662
Name: Abnormality of the epiphysis of the distal phalanx of the thumb
Synonym: Abnormality of terminal thumb epiphysis; Abnormality of the end part of the outermost bone of the thumb
Definition: Abnormality of the epiphysis of the distal phalanx of the thumb. This epiphysis is located on the proximal end of the phalanx.
Comments:
Reference: HP:0009662
Genes and Diseases:
 
       Child Nodes:
........expandAbsent epiphysis of the distal phalanx of the thumb (HP:0009675) help
........expandBracket epiphysis of the distal phalanx of the thumb (HP:0009676) help
........expandCone-shaped epiphysis of the distal phalanx of the thumb (HP:0009677) help
........expandEnlarged epiphysis of the distal phalanx of the thumb (HP:0009678) help
........expandFragmentation of the epiphysis of the distal phalanx of the thumb (HP:0009679) help
........expandIrregular epiphysis of the distal phalanx of the thumb (HP:0009680) help
........expandIvory epiphysis of the distal phalanx of the thumb (HP:0009681) help
........expandPseudoepiphysis of the distal phalanx of the thumb (HP:0009682) help
........expandSmall epiphysis of the distal phalanx of the thumb (HP:0009683) help
........expandStippling of the epiphysis of the distal phalanx of the thumb (HP:0009684) help
........expandTriangular epiphysis of the distal phalanx of the thumb (HP:0009685) help

 Sister Nodes: 
..expandAbnormality of the epiphysis of the proximal phalanx of the thumb (HP:0009663) help
..expandAbsent epiphyses of the thumb (HP:0009686) help
..expandBracket epiphyses of the thumb (HP:0009687) help
..expandCone-shaped epiphysis of the thumb (HP:0009688) help
..expandEnlarged thumb epiphysis (HP:0009689) help
..expandFragmentation of thumb epiphysis (HP:0009690) help
..expandIrregular thumb epiphysis (HP:0009691) help
..expandIvory epiphysis of the thumb (HP:0009692) help
..expandPseudoepiphysis of the thumb (HP:0009693) help
..expandSmall thumb epiphysis (HP:0009694) help
..expandStippling of thumb epiphysis (HP:0009695) help
..expandTriangular epiphyses of the thumb (HP:0009696) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009662HP:0009662Abnormality of the epiphysis of the distal phalanx of the thumb0BMPR1B CL E G H6581077ORPHA:93384Brachydactyly type C90
HP:0009662HP:0009662Abnormality of the epiphysis of the distal phalanx of the thumb0GDF5 CL E G H82004220ORPHA:93384Brachydactyly type C52
HP:0009662HP:0009678Enlarged epiphysis of the distal phalanx of the thumb1 CL E G H
HP:0009662HP:0009685Triangular epiphysis of the distal phalanx of the thumb1 CL E G H
HP:0009662HP:0009677Cone-shaped epiphysis of the distal phalanx of the thumb1 CL E G H
HP:0009662HP:0009683Small epiphysis of the distal phalanx of the thumb1 CL E G H
HP:0009662HP:0009676Bracket epiphysis of the distal phalanx of the thumb1 CL E G H
HP:0009662HP:0009682Pseudoepiphysis of the distal phalanx of the thumb1 CL E G H
HP:0009662HP:0009675Absent epiphysis of the distal phalanx of the thumb1 CL E G H
HP:0009662HP:0009681Ivory epiphysis of the distal phalanx of the thumb1 CL E G H
HP:0009662HP:0009680Irregular epiphysis of the distal phalanx of the thumb1 CL E G H
HP:0009662HP:0009679Fragmentation of the epiphysis of the distal phalanx of the thumb1 CL E G H
HP:0009662HP:0009684Stippling of the epiphysis of the distal phalanx of the thumb1BMPR1B CL E G H6581077ORPHA:93384Brachydactyly type CHP:0040282 - Frequent90
HP:0009662HP:0009684Stippling of the epiphysis of the distal phalanx of the thumb1GDF5 CL E G H82004220ORPHA:93384Brachydactyly type CHP:0040282 - Frequent52
HP:0009662HP:0041216Fractured distal epiphysis of distal phalanx of manual digit 12 CL E G H


Genes (2) :BMPR1B GDF5

Diseases (1) :ORPHA:93384
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.