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:
Ganglioside accumulation (HP:0004345)

..Starting node
..GM2-ganglioside accumulation (HP:0003495)

Term ID:

3495

Name:

GM2-ganglioside accumulation

Synonym:

Definition:

Cellular accumulation of GM2 gangliosides.

Comments:

Reference:

HP:0003495

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased serum beta-hexosaminidase (HP:0003333)

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:0003495	HP:0003495	GM2-ganglioside accumulation	0	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant	.	69

Genes (1) :GM2A

Diseases (1) :OMIM:272750

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