Glycogen storage disease 0, liver

Preferred Label : Glycogen storage disease 0, liver;

Symbol : GSD0A;

CISMeF acronym : GSD0A;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Gsd 0a; Liver glycogen storage disease 0; Hypoglycemia with deficiency of glycogen synthetase in the liver; Liver glycogen synthase deficiency;

Inheritance : Autosomal recessive;

Prefixed ID : #240600;

Détails

Origin ID

240600;

UMLS CUI

C1855861;

Currated CISMeF NLP mapping
- Glycogen storage disease due to glycogen synthase deficiency [ICD-11 More detail]
- Glycogen storage disease due to glycogen synthase deficiency [ORDO Disease]
- Glycogen storage disease due to hepatic glycogen synthase deficiency [ORDO Disease]
- Glycogen storage disease due to liver glycogen synthase deficiency [ICD-11 More detail]
- Glycogen storage disease type 0 liver type [Disease (Nov.)]
- glycogen storage disease 0, liver [MeSH concept]
- glycogen storage disease 0, liver [MeSH Supplementary Concept]
- glycogen storage disease type 0 [Disease (Nov.)]
Genes related to phenotype
- Glycogen synthase 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Fasting hypoglycemia [HPO term]
- Increased serum lactate [HPO term]
- Ketonemia [HPO term]
- Ketosis [HPO term]
- Neonatal hypoglycemia [HPO term]
- Postprandial hyperglycemia [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- Glycogen storage disease due to hepatic glycogen synthase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycogen storage disease due to glycogen synthase deficiency [ICD-11 More detail]
- Glycogen storage disease due to glycogen synthase deficiency [ORDO Disease]
- Glycogen storage disease due to hepatic glycogen synthase deficiency [ORDO Disease]
- Glycogen storage disease type 0 liver type [Disease (Nov.)]
- glycogen storage disease 0, liver [MeSH Supplementary Concept]
- glycogen storage disease 0, liver [MeSH concept]
Validated automatic mappings to BTNT
- Glycogen storage disease type 0 liver type [Disease (Nov.)]
- Glycogen synthase deficiency (disorder) [SNOMED CT concept]
- Hepatic glycogen synthase deficiency (disorder) [SNOMED CT concept]

Position du mot-clé dans l'(les) arborescence(s) :

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