GM2-Gangliosidosis, AB Variant

Preferred Label : GM2-Gangliosidosis, AB Variant;

NCIt synonyms : Tay-Sachs Disease, AB Variant;

NCIt definition : An autosomal recessive lysosomal storage disease caused by mutation(s) in the GM2A gene, encoding ganglioside GM2 activator. It is characterized by GM2-ganglioside accumulation in tissues resulting in hypotonia, cherry-red macular spots, and neurocognitive dysfunction.;

Details

Origin ID

C133084;

UMLS CUI

C0268275;

Automatic exact mappings (from CISMeF team)
- Tay-Sachs disease, Pseudo-AB variant [MeSH Supplementary Concept]
- Tay-Sachs disease, Pseudo-AB variant [MeSH concept]
Currated CISMeF NLP mapping
- GM2 gangliosidosis AB variant [Disease (Nov.)]
- GM2 gangliosidosis, AB variant [DO Concept]
- GM2 gangliosidosis, AB variant [ORDO Disease]
- Gm2-gangliosidosis, ab variant [OMIM Phenotype]
- Hexosaminidase activator deficiency [ICD-11 More detail]
- Tay-Sachs disease, AB variant [MeSH concept]
- Tay-Sachs disease, AB variant [MeSH Descriptor]
- Tay-Sachs disease, variant AB (disorder) [SNOMED CT concept]
- tay-sachs disease, variant ab [SNOMED Notion]
DO Cross reference
- GM2 gangliosidosis, AB variant [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- GM2 gangliosidosis AB variant [Disease (Nov.)]
- GM2 gangliosidosis, AB variant [ORDO Disease]
- GM2 gangliosidosis, AB variant [DO Concept]
- Gm2-gangliosidosis, ab variant [OMIM Phenotype]
- Hexosaminidase activator deficiency [ICD-11 More detail]
- Tay-Sachs disease, AB variant [MeSH Descriptor]
- Tay-Sachs disease, AB variant [MeSH concept]
- Tay-Sachs disease, variant AB (disorder) [SNOMED CT concept]
- tay-sachs disease, variant ab [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- GM2A Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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