Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of thumb epiphysis (HP:0009599)help
Grandparent Node:
expandEnlarged epiphyses of the phalanges of the hand (HP:0010231)help
Parent Node:
expandAbnormality of the epiphysis of the proximal phalanx of the thumb (HP:0009663)help
Parent Node:
expandEnlarged epiphyses of the middle phalanges of the hand (HP:0010260)help
Parent Node:
expandEnlarged thumb epiphysis (HP:0009689)help
..Starting node
..expandEnlarged epiphysis of the proximal phalanx of the thumb (HP:0009667)help
Term ID: 9667
Name: Enlarged epiphysis of the proximal phalanx of the thumb
Synonym: Enlarged end part of thumb innermost long bone
Definition: Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.
Comments:
Reference: HP:0009667
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandEnlarged epiphysis of the distal phalanx of the thumb (HP:0009678) 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:0009667HP:0009667Enlarged epiphysis of the proximal phalanx of the thumb0 CL E G H


Genes (0) :

Diseases (0) :
 

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