Human Phenotype Ontology 
Grandparent Node:
expandAbnormal epiphysis morphology of the phalanges of the hand (HP:0005920)help
Grandparent Node:
expandAbnormal proximal phalanx morphology of the hand (HP:0009834)help
Parent Node:
expandAbnormal 1st metacarpal morphology (HP:0010009)help
Parent Node:
expandAbnormal metacarpal epiphysis morphology (HP:0005913)help
Parent Node:
expandAbnormality of the epiphyses of the proximal phalanges of the hand (HP:0010245)help
..Starting node
..expandAbnormality of the epiphysis of the 1st metacarpal (HP:0010014)help
Term ID: 10014
Name: Abnormality of the epiphysis of the 1st metacarpal
Synonym: Abnormality of the end part of the 1st long bone of hand
Definition: In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). The epiphysis of the first metacarpal is localized at the proximal end (as seen in the proximal phalanges of the other digits), whereas the epiphyses of the other metacarpal bones are located at the distal end. This term applies if the epiphysis of the 1st metacarpal is in any way abnormal, referring to age and gender depending norms, as seen on x-rays.
Comments:
Reference: HP:0010014
Genes and Diseases:
 
       Child Nodes:
........expandAbsent epiphysis of the 1st metacarpal (HP:0010015) help
........expandBracket epiphysis of the 1st metacarpal (HP:0010016) help
........expandCone-shaped epiphysis of the 1st metacarpal (HP:0010017) help
........expandEnlarged epiphysis of the 1st metacarpal (HP:0010018) help
........expandFragmentation of the epiphysis of the 1st metacarpal (HP:0010019) help
........expandIrregular epiphysis of the 1st metacarpal (HP:0010020) help
........expandIvory epiphysis of the 1st metacarpal (HP:0010021) help
........expandPseudoepiphysis of the 1st metacarpal (HP:0010022) help
........expandSmall epiphysis of the 1st metacarpal (HP:0010023) help
........expandEpiphyseal stippling of the first metacarpal (HP:0010024) help
........expandTriangular epiphysis of the 1st metacarpal (HP:0010025) help

 Sister Nodes: 
..expandAbnormality of the epiphysis of the proximal phalanx of the 2nd finger (HP:0009501) help
..expandAbnormality of the epiphysis of the proximal phalanx of the 3rd finger (HP:0009333) help
..expandAbnormality of the epiphysis of the proximal phalanx of the 4th finger (HP:0009248) help
..expandAbnormality of the epiphysis of the proximal phalanx of the 5th finger (HP:0009153) help
..expandAbsent epiphyses of the proximal phalanges of the hand (HP:0010268) help
..expandBracket epiphyses of the proximal phalanges of the hand (HP:0010269) help
..expandCone-shaped epiphyses of the proximal phalanges of the hand (HP:0010270) help
..expandEnlarged epiphyses of the proximal phalanges of the hand (HP:0010271) help
..expandFragmentation of the epiphyses of the proximal phalanges of the hand (HP:0010272) help
..expandIrregular epiphyses of the proximal phalanges of the hand (HP:0010273) help
..expandIvory epiphyses of the proximal phalanges of the hand (HP:0010274) help
..expandPseudoepiphyses of the proximal phalanges of the hand (HP:0010275) help
..expandSmall epiphyses of the proximal phalanges of the hand (HP:0010276) help
..expandStippling of the epiphyses of the proximal phalanges of the hand (HP:0010277) help
..expandTriangular epiphyses of the proximal phalanges of the hand (HP:0010278) help


Genes (2) :IHH NPR3

Diseases (2) :OMIM:607778 OMIM:619543
 

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