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