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

..Starting node
..Hepatic foam cells (HP:0034029)

Term ID:

34029

Name:

Hepatic foam cells

Synonym:

Definition:

The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, in the liver.

Comments:

Reference:

HP:0034029

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0034029	HP:0034029	Hepatic foam cells	0	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency	73

Genes (1) :LIPA

Diseases (1) :OMIM:278000

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