Glycogen Storage Disease Type V

Preferred Label : Glycogen Storage Disease Type V;

NCIt definition : An autosomal recessive inherited type of glycogen storage disease caused by deficiency of myophosphorylase. It results in myalgias, muscle cramping and stiffness, and exercise intolerance.;

Details

Origin ID

C84738;

UMLS CUI

C0017924;

Automatic exact mappings (from CISMeF team)
- glycogen phosphorylase, muscle associated [ORDO Gene]
- glycogen phosphorylase, muscle associated [HGNC gene]
Currated CISMeF NLP mapping
- Glycogen storage disease V [OMIM Phenotype]
- Glycogen storage disease due to muscle glycogen phosphorylase deficiency [ORDO Disease]
- Glycogen storage disease type V [MedDRA Preferred Term]
- Glycogen storage disease, type V (disorder) [SNOMED CT concept]
- Glycogenosis type V [MedDRA LLT]
- McArdle's disease [MedDRA LLT]
- McArdles disease [MedDRA LLT]
- Type V glycogen storage disease [MedDRA LLT]
- glycogen storage disease V [DO Concept]
- glycogen storage disease type 5 [Disease (Nov.)]
- glycogen storage disease type V [MeSH concept]
- glycogen storage disease type v [MeSH Descriptor]
- glycogen storage disease, type v [SNOMED Notion]
DO Cross reference
- glycogen storage disease V [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycogen storage disease V [OMIM Phenotype]
- Glycogen storage disease due to muscle glycogen phosphorylase deficiency [ORDO Disease]
- Glycogen storage disease type V [MedDRA Preferred Term]
- Glycogen storage disease, type V (disorder) [SNOMED CT concept]
- Glycogenosis type V [MedDRA LLT]
- McArdle's disease [MedDRA LLT]
- McArdles disease [MedDRA LLT]
- Type V glycogen storage disease [MedDRA LLT]
- glycogen storage disease V [DO Concept]
- glycogen storage disease type 5 [Disease (Nov.)]
- glycogen storage disease type V [MeSH concept]
- glycogen storage disease type v [MeSH Descriptor]
- glycogen storage disease, type v [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- PYGM Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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