Genetic Glyco-Diseases Ontology (GGDonto)
Concept UI CON00105 (Tree)
Name Pompe disease, late-onset form
UMLS CUI C0017921
UMLS SAB MeSH
UMLS CODE D006009
OMIM DATA: Gene GAA
OMIM DATA: Gene Number 606800
OMIM DATA: Phenotype Number 232300