alpha glucosidase

Preferred Label : alpha glucosidase;

Approved symbol HGNC : GAA;

Name synonyms HGNC : glycogen storage disease type II; Pompe disease;

Chromosome HGNC : 17q25.3;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000171298;

Details

Origin ID

HGNC:4065;

UMLS CUI

C1414899;

Automatic exact mappings (from CISMeF team)
- Acid alpha glucosidase [LOINC component]
- Acid alpha glucosidase (substance) [SNOMED CT concept]
- Glucosidase, alpha, acid [OMIM gene]
- Glycogen Storage Disease Type II [NCIt concept]
- Glycogen storage disease II [OMIM Phenotype]
- Glycogen storage disease due to acid maltase deficiency [ORDO Disease]
- Glycogen storage disease due to acid maltase deficiency [ICD-11 More detail]
- Glycogen storage disease type II [MedDRA Preferred Term]
- Glycogen storage disease, type II (disorder) [SNOMED CT concept]
- Pompe disease [LOINC component]
- Pompe's disease [MedDRA LLT]
- Type II glycogen storage disease [MedDRA LLT]
- alpha glucosidase [ORDO Gene]
- glycogen storage disease II [DO Concept]
- glycogen storage disease type II [MeSH concept]
- glycogen storage disease type ii [MeSH Descriptor]
- glycogen storage disease, type ii [SNOMED Notion]
OMIM gene
- Glucosidase, alpha, acid [OMIM gene]
Orphanet gene
- alpha glucosidase [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- GAA gene [LOINC component]
- Glucosidase, alpha, acid [OMIM gene]

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