Glycogen Storage Disease Type VI

Preferred Label : Glycogen Storage Disease Type VI;

NCIt definition : An autosomal recessive sub-type of glycogen storage disease caused by mutation(s) in the PYGL gene, encoding glycogen phosphorylase, liver form. The condition is characterized by mild-moderate hypoglycemia, growth retardation and hepatomegaly.;

Details

Origin ID

C126875;

UMLS CUI

C0017925;

Automatic exact mappings (from CISMeF team)
- glycogen phosphorylase L [ORDO Gene]
- glycogen phosphorylase L [HGNC gene]
- glycogen storage disease VI [DO Concept]
Currated CISMeF NLP mapping
- Glycogen storage disease VI [OMIM Phenotype]
- Glycogen storage disease due to liver glycogen phosphorylase deficiency [ORDO Disease]
- Glycogen storage disease type VI [MedDRA Preferred Term]
- Glycogen storage disease, type VI (disorder) [SNOMED CT concept]
- Glycogenosis VI Hers [PASCAL descriptor]
- Glycogenosis type VI [MedDRA LLT]
- glycogen storage disease type VI [MeSH concept]
- glycogen storage disease type vi [MeSH Descriptor]
- glycogen storage disease, type vi [SNOMED Notion]
DO Cross reference
- glycogen storage disease VI [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycogen storage disease VI [OMIM Phenotype]
- Glycogen storage disease due to liver glycogen phosphorylase deficiency [ORDO Disease]
- Glycogen storage disease type VI [MedDRA Preferred Term]
- Glycogen storage disease, type VI (disorder) [SNOMED CT concept]
- Glycogenosis type VI [MedDRA LLT]
- Hepatic glycogen phosphorylase deficiency (disorder) [Inactive SNOMED CT concept]
- Hers disease [MedDRA LLT]
- Hers glycogenosis [MedDRA LLT]
- glycogen storage disease VI [DO Concept]
- glycogen storage disease type 6 [Disease (Nov.)]
- glycogen storage disease type VI [MeSH concept]
- glycogen storage disease type vi [MeSH Descriptor]
- glycogen storage disease, type vi [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
- PYGL Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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