Human Phenotype Ontology

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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:
Abnormal myeloid leukocyte morphology (HP:0010974)

Parent Node:
Abnormal macrophage morphology (HP:0004311)

..Starting node
..Bone-marrow foam cells (HP:0004333)

Term ID:

4333

Name:

Bone-marrow foam cells

Synonym:

Bone marrow foam cells; Large vacuolated foam cells ('NP cells') on bone marrow biopsy; Large vacuolated foam cells on bone marrow biopsy

Definition:

The presence of foam cells in the bone marrow, generally demonstrated by bone-marrow aspiration or biopsy. Foam cells have a vacuolated appearance due to the presence of complex lipid deposits, giving them a foamy or soap-suds appearance.

Comments:

Reference:

HP:0004333

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal macrophage count (HP:0030326)

Granulomatosis (HP:0002955)

Hemophagocytosis (HP:0012156)

Histiocytosis (HP:0100727)

Sea-blue histiocytosis (HP:0001982)

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:0004333	HP:0004333	Bone-marrow foam cells	0	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency	.	73
HP:0004333	HP:0004333	Bone-marrow foam cells	0	LIPA CL E G H	3988	6617	ORPHA:75233	Wolman disease	HP:0040283 - Occasional	73
HP:0004333	HP:0004333	Bone-marrow foam cells	0	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency	.	43
HP:0004333	HP:0004333	Bone-marrow foam cells	0	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1	.	258
HP:0004333	HP:0004333	Bone-marrow foam cells	0	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2	.	33
HP:0004333	HP:0004333	Bone-marrow foam cells	0	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A	.	164
HP:0004333	HP:0004333	Bone-marrow foam cells	0	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B	.	164

Genes (5) :LIPA NEU1 NPC1 NPC2 SMPD1

Diseases (7) :OMIM:278000 ORPHA:75233 OMIM:256550 OMIM:257220 OMIM:607625 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.

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