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:
Abnormal glycosphingolipid metabolism (HP:0004343)

Parent Node:
Abnormality of cerebrosidase metabolism (HP:0004344)

..Starting node
..Decreased beta-glucocerebrosidase level (HP:0003656)

Term ID:

3656

Name:

Decreased beta-glucocerebrosidase level

Synonym:

Decreased lysosomal acid glucosylceramidase activity

Definition:

Reduced level of the enzyme beta-glucosidase, an enzyme that catalyzes the hydrolysis of glucosylceramide into ceramide and glucose.

Comments:

Reference:

HP:0003656

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003656	HP:0003656	Decreased beta-glucocerebrosidase level	0	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III	.

Genes (1) :GBA1

Diseases (1) :OMIM:231000

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