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:
Atherosclerosis (HP:0002621)

Parent Node:
Foam cells (HP:0003651)

..Starting node
..CNS foam cells (HP:0003640)

Term ID:

3640

Name:

CNS foam cells

Synonym:

Definition:

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

Comments:

Reference:

HP:0003640

Genes and Diseases:

Child Nodes:

Sister Nodes:

Foam cells with lamellar inclusion bodies (HP:0003609)

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:0003640	HP:0003640	CNS foam cells	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040282 - Frequent	78
HP:0003640	HP:0003640	CNS foam cells	0	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1		258
HP:0003640	HP:0003640	CNS foam cells	0	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2		33

Genes (3) :ASAH1 NPC1 NPC2

Diseases (3) :ORPHA:333 OMIM:257220 OMIM:607625

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