Human Phenotype Ontology 
Grandparent Node:
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Abnormality of bone mineral density (HP:0004348)help
Parent Node:
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Reduced bone mineral density (HP:0004349)help
..Starting node
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Generalized bone demineralization (HP:0006462)help
Term ID: 6462
Name: Generalized bone demineralization
Synonym: Generalised bone demineralization
Definition: A generalized decrease in bone mineral density.
Comments:
Reference: HP:0006462
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandOsteomalacia (HP:0002749) help
..expandOsteopenia (HP:0000938) help
..expandOsteoporosis (HP:0000939) help
..expandPatchy reduction of bone mineral density (HP:0010657) help
..expandPatchy variation in bone mineral density (HP:0010659) help
..expandRickets (HP:0002748) 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:0006462HP:0006462Generalized bone demineralization0CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations.165
HP:0006462HP:0006462Generalized bone demineralization0DDRGK1 CL E G H6599216110ORPHA:93352Spondyloepimetaphyseal dysplasia, Shohat typeHP:0040282 - Frequent


Genes (2) :CHST3 DDRGK1

Diseases (2) :OMIM:143095 ORPHA:93352
 

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