Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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
..Foam cells with lamellar inclusion bodies (HP:0003609)

Term ID:

3609

Name:

Foam cells with lamellar inclusion bodies

Synonym:

Definition:

The presence of foam cells that contain lamellar inclusion bodies.

Comments:

Reference:

HP:0003609

Genes and Diseases:

Child Nodes:

Sister Nodes:

CNS foam cells (HP:0003640)

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:0003609	HP:0003609	Foam cells with lamellar inclusion bodies	0	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0003609	HP:0003609	Foam cells with lamellar inclusion bodies	0	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A	.	164
HP:0003609	HP:0003609	Foam cells with lamellar inclusion bodies	0	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B	.	164

Genes (2) :SC5D SMPD1

Diseases (3) :OMIM:607330 OMIM:257200 OMIM:607616

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