Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of bone mineral density (HP:0004348)

Parent Node:
Osteolysis (HP:0002797)

Parent Node:
Patchy changes of bone mineral density (HP:0010658)

Parent Node:
Reduced bone mineral density (HP:0004349)

..Starting node
..Patchy reduction of bone mineral density (HP:0010657)

Term ID:

10657

Name:

Patchy reduction of bone mineral density

Synonym:

Definition:

Patchy (irregular) reduction in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays.

Comments:

Reference:

HP:0010657

Genes and Diseases:

Child Nodes:

Sister Nodes:

Generalized bone demineralization (HP:0006462)

Osteomalacia (HP:0002749)

Osteopenia (HP:0000938)

Osteoporosis (HP:0000939)

Patchy variation in bone mineral density (HP:0010659)

Rickets (HP:0002748)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010657	HP:0010657	Patchy reduction of bone mineral density	0	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.