Human Phenotype Ontology 
Grandparent Node:
expandAbnormal phalangeal joint morphology of the hand (HP:0006261)help
Grandparent Node:
expandEnlarged joints (HP:0003037)help
Parent Node:
expandEnlarged interphalangeal joints (HP:0006247)help
..Starting node
..expandHeberden's node (HP:0012313)help
Term ID: 12313
Name: Heberden's node
Synonym:
Definition: Bony swelling of the distal interphalangeal joint (DIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically.
Comments:
Reference: HP:0012313
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandBouchard's node (HP:0012314) help
..expandEnlarged proximal interphalangeal joints (HP:0006185) 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:0012313HP:0012313Heberden's node0COL2A1 CL E G H12802200OMIM:604864Osteoarthritis with mild chondrodysplasia.284
HP:0012313HP:0012313Heberden's node0MATN3 CL E G H41486909OMIM:140600Osteoarthritis of distal interphalangeal joints.32


Genes (2) :COL2A1 MATN3

Diseases (2) :OMIM:604864 OMIM:140600
 

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