Human Phenotype Ontology 
Grandparent Node:
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Abnormality of radial epiphyses (HP:0003999)help
Parent Node:
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Abnormality of the distal radial epiphysis (HP:0010597)help
..Starting node
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Hypoplastic distal radial epiphyses (HP:0006386)help
Term ID: 6386
Name: Hypoplastic distal radial epiphyses
Synonym:
Definition: Underdevelopment of the distal epiphysis of the radius.
Comments:
Reference: HP:0006386
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDistal radial epiphyseal osteolysis (HP:0006449) help
..expandDysplastic distal radial epiphyses (HP:0005013) help
..expandFlattened proximal radial epiphyses (HP:0005004) 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:0006386HP:0006386Hypoplastic distal radial epiphyses0IFIH1 CL E G H6413518873OMIM:182250Singleton-Merten syndrome 1.28


Genes (1) :IFIH1

Diseases (1) :OMIM:182250
 

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