GSD IV, neuromuscular form, fatal perinatal

Preferred Label : GSD IV, neuromuscular form, fatal perinatal;

MeSH note : mutation in GBE1;

Origin ID

C565541;

UMLS CUI

C1856303;

Automatic exact mappings (from CISMeF team)
- Glycogen storage disease iv [OMIM Phenotype]
Currated CISMeF NLP mapping
- Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form [ORDO Disease]
MeSH term(s) associated for indexing
- glycogen storage disease type iv [MeSH Descriptor]
- neuromuscular diseases [MeSH Descriptor]
Record concept(s)
- GSD IV, neuromuscular form, fatal perinatal [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form [ORDO Disease]