glycogen storage disease, type IXA2

Preferred Label : glycogen storage disease, type IXA2;

MeSH note : PROM mutation in PHKA2;

MeSH synonym : GSD IXA2; GSD9A2;

Origin ID

C567579;

UMLS CUI

C2748941;

MeSH term(s) associated for indexing
- genetic diseases, X-linked [MeSH Descriptor]
- glycogen storage disease [MeSH Descriptor]
Record concept(s)
- glycogen storage disease, type IXA2 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Glycogen storage disease ixa1 [OMIM Phenotype]