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:
Abnormal macrophage count (HP:0030326)

Parent Node:
Abnormal osteoclast count (HP:0030327)

..Starting node
..Decreased osteoclast count (HP:0030328)

Term ID:

30328

Name:

Decreased osteoclast count

Synonym:

Definition:

Decreased number of osteoclasts in bone tissue.

Comments:

Reference:

HP:0030328

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030328	HP:0030328	Decreased osteoclast count	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5	.	73
HP:0030328	HP:0030328	Decreased osteoclast count	0	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2		44

Genes (2) :OSTM1 TNFSF11

Diseases (2) :OMIM:259720 OMIM:259710

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