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glycogen storage disease I

^ http://purl.obolibrary.org/obo/MONDO_0002413

Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b, and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver. [ Orphanet:364 ]

Term info

database cross reference
  • SCTID:7265005 (MONDO:equivalentTo)
  • MESH:D005953 (MONDO:equivalentTo)
  • MedDRA:10018464 (Orphanet:364/e)
  • DOID:2749 (MONDO:equivalentTo)
  • ICD10CM:E74.01 (MONDO:equivalentTo)
  • NCIT:C84733 (MONDO:equivalentTo)
  • Orphanet:364 (MONDO:equivalentTo)
Subsets

ordo_disease

closeMatch

http://identifiers.org/meddra/10018464

definition

Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b, and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver.

exactMatch

http://identifiers.org/snomedct/7265005, http://identifiers.org/mesh/D005953, http://purl.obolibrary.org/obo/Orphanet_364, http://purl.bioontology.org/ontology/ICD10CM/E74.01, http://purl.obolibrary.org/obo/NCIT_C84733, http://purl.obolibrary.org/obo/DOID_2749

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019743

has alternative id

MONDO:0018220

has exact synonym

glycogen storage disease due to G6P deficiency, GSD due to G6P deficiency, von Gierke's disease, glycogenosis type 1, GSD type 1, deficiency of glucose-6-phosphatase, glycogen storage disease due to glucose-6-phosphatase deficiency, glycogenosis type I, glycogen storage disease type 1, G6P deficiency, von Gierke disease, glycogen storage disease type I, glycogen storage disease, type I, GSD1, glycogen storage disease I, hepatorenal glycogenosis, GSD type I

id

MONDO:0002413

Term relations