Human Phenotype Ontology 
..Starting node
..expandPaget disease of bone (HP:0034159)help
Term ID: 34159
Name: Paget disease of bone
Synonym:
Definition: A localized disorder of bone remodeling. Increased numbers of larger than normal osteoclasts initiate the process at affected skeletal sites, and the increase in bone resorption is followed by an increase in new bone formation, altering bone architecture.
Comments:
Reference: HP:0034159
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0034159HP:0034159Paget disease of bone0HNRNPA2B1 CL E G H31815033OMIM:615422Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 25
HP:0034159HP:0034159Paget disease of bone0VCP CL E G H741512666OMIM:167320Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 163


Genes (2) :HNRNPA2B1 VCP

Diseases (2) :OMIM:615422 OMIM:167320
 

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