Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of the epiphyses of the proximal phalanges of the hand (HP:0010245)help
Grandparent Node:
expandPseudoepiphyses of the phalanges of the hand (HP:0010235)help
Parent Node:
expandAbnormality of the epiphysis of the 1st metacarpal (HP:0010014)help
Parent Node:
expandPseudoepiphyses of the metacarpals (HP:0009193)help
Parent Node:
expandPseudoepiphyses of the proximal phalanges of the hand (HP:0010275)help
..Starting node
..expandPseudoepiphysis of the 1st metacarpal (HP:0010022)help
Term ID: 10022
Name: Pseudoepiphysis of the 1st metacarpal
Synonym:
Definition: The epiphysis of the first metacarpal is localized at the proximal end of the metacarpal bone although an accessory epiphysis may be located at the distal end of the metacarpal.
Comments:
Reference: HP:0010022
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandPseudoepiphysis of the proximal phalanx of the 2nd finger (HP:0009531) help
..expandPseudoepiphysis of the proximal phalanx of the 3rd finger (HP:0009353) help
..expandPseudoepiphysis of the proximal phalanx of the 4th finger (HP:0009268) help
..expandPseudoepiphysis of the proximal phalanx of the 5th finger (HP:0009200) 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:0010022HP:0010022Pseudoepiphysis of the 1st metacarpal0NPR3 CL E G H48837945OMIM:619543BOUDIN-MORTIER SYNDROME; BOMOS


Genes (1) :NPR3

Diseases (1) :OMIM:619543
 

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