Human Phenotype Ontology 
Grandparent Node:
expandAbnormal hand epiphysis morphology (HP:0005924)help
Grandparent Node:
expandAbnormality of the metacarpal bones (HP:0001163)help
Parent Node:
expandAbnormal metacarpal epiphysis morphology (HP:0005913)help
..Starting node
..expandBroad metacarpal epiphyses (HP:0006146)help
Term ID: 6146
Name: Broad metacarpal epiphyses
Synonym: Broad end part of long bone of hand
Definition: Increased side-to-side width of the metacarpal epiphyses.
Comments:
Reference: HP:0006146
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormality of the epiphysis of the 1st metacarpal (HP:0010014) help
..expandAbsent metacarpal epiphyses (HP:0009196) help
..expandBracket metacarpal epiphyses (HP:0200050) help
..expandCone-shaped metacarpal epiphyses (HP:0006059) help
..expandEnlarged metacarpal epiphyses (HP:0006134) help
..expandEpiphyseal stippling of the metacarpals (HP:0009195) help
..expandFragmentation of the metacarpal epiphyses (HP:0009189) help
..expandIrregular epiphyses of the metacarpals (HP:0009190) help
..expandIvory epiphyses of the metacarpals (HP:0009191) help
..expandPseudoepiphyses of the metacarpals (HP:0009193) help
..expandSmall epiphyses of the metacarpals (HP:0009194) help
..expandTriangular epiphyses of the metacarpals (HP:0009171) 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:0006146HP:0006146Broad metacarpal epiphyses0IHH CL E G H35495956OMIM:112500Brachydactyly, type A1.44


Genes (1) :IHH

Diseases (1) :OMIM:112500
 

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