Genetic Glyco-Diseases Ontology (GGDonto)
Concept UI CON00104 (Tree)
Name Pompe disease, infantile-onset form
UMLS CUI C0342751
UMLS SAB MeSH
UMLS CODE D006009
OMIM DATA: Gene GAA
OMIM DATA: Gene Number 606800
OMIM DATA: Phenotype Number 232300