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
..Elevated circulating globotriaosylceramide concentration (HP:0033595)

Term ID:

33595

Name:

Elevated circulating globotriaosylceramide concentration

Synonym:

Elevated circulating ceramidetrihexoside concentration

Definition:

Increased concentration of globotriaosylceramide (Gb3) in the blood circulation. Globotriaosylceramide, also named ceramidetrihexoside, is the primary lipid storage in Fabry disease.

Comments:

Reference:

HP:0033595

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:0033595	HP:0033595	Elevated circulating globotriaosylceramide concentration	0	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease	291

Genes (1) :GLA

Diseases (1) :OMIM:301500

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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