Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Preferred Name

alpha glucosidase
Synonyms

glycogen storage disease type II

Pompe disease

ID

http://www.orpha.net/ORDO/Orphanet_121987

alternative_term

glycogen storage disease type II

Pompe disease

hasDbXref

ClinVar:GAA

Reactome:P10253

Ensembl:ENSG00000171298

IUPHAR:2611

OMIM:606800

SwissProt:P10253

Genatlas:GAA

HGNC:4065

label

alpha glucosidase

prefixIRI

ORDO:Orphanet_121987

prefLabel

alpha glucosidase

symbol

GAA

subClassOf

http://www.orpha.net/ORDO/Orphanet_410298

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