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DO Term : GM2 gangliosidosis, AB variant [DOID:4795] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A GM2 gangliosidosis that is characterized by normal hexosaminidase A (HEXA) and hexosaminidase B (HEXB) but the inability to form a functional GM2 activator complex.

synonyms:
Tay-Sachs disease AB variant,
MESH:D049290,
OMIM:272750,
UMLS_CUI:C0268275,
Tay-Sachs disease, variant AB,
272750,
NCI:C133084,
SNOMEDCT_US_2023_03_01:71253000

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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