Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of the humerus (HP:0003063)help
Grandparent Node:
expandAbnormality of upper limb epiphysis morphology (HP:0003839)help
Parent Node:
expandAbnormality of the epiphyses of the elbow (HP:0003946)help
Parent Node:
expandAbnormality of the humeral epiphysis (HP:0003891)help
..Starting node
..expandAbnormality of the distal humeral epiphysis (HP:0010599)help
Term ID: 10599
Name: Abnormality of the distal humeral epiphysis
Synonym: Abnormality of the end part of the outermost long bone in upper arm
Definition: Any abnormality of the distal epiphysis of the humerus.
Comments:
Reference: HP:0010599
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormality of the humeral epiphyseal plate (HP:0003905) help
..expandAbnormality of the proximal humeral epiphysis (HP:0010598) help
..expandAbsent humeral epiphyseal ossification (HP:0003892) help
..expandAdvanced ossification of the humeral epiphysis (HP:0003893) help
..expandBroad humeral epiphyses (HP:0003903) help
..expandDelayed humeral epiphyseal ossification (HP:0003894) help
..expandFlattened humeral epiphyses (HP:0003895) help
..expandIrregular humeral epiphyses (HP:0003896) help
..expandIrregular ossification of the humeral epiphyses (HP:0003897) help
..expandLarge humeral epiphyses (HP:0003898) help
..expandRound humeral epiphyses (HP:0003899) help
..expandSmall humeral epiphyses (HP:0003900) help
..expandStippled calcification of the humeral epiphyses (HP:0003901) 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:0010599HP:0010599Abnormality of the distal humeral epiphysis0 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.