JSON

disorder of glycogen metabolism

Go to external page http://purl.obolibrary.org/obo/MONDO_0002412

An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues. [ NCIT:C61272 ]

Synonyms: glycogenoses inborn error of glycogen metabolic process glycogen storage disorder glycogen metabolism disorder glycogen storage disease GSD inborn glycogen storage disorder rare inborn error of glycogen metabolic process inborn glycogen metabolic process disorder glycogenosis

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:D006008 (Orphanet:79201/e)
  • ICD10CM:E74.0 (Orphanet:79201/specific)
  • MedDRA:10061990 (Orphanet:79201/e)
  • DOID:0050728 (MONDO:equivalentTo)
  • SCTID:29633007 (MONDO:equivalentTo)
  • Orphanet:79201 (MONDO:equivalentTo)
  • NCIT:C61272 (MONDO:equivalentTo)
  • GARD:18973 (Orphanet:79201)
  • UMLS:C0017919 (Orphanet:79201/e)
  • DOID:2747 (MONDO:equivalentTo)
  • ICD9:271.0 (MONDO:i2s)
  • OMIMPS:232200 (MONDO:equivalentTo)
Subsets

gard_rare, disease_grouping, rare, orphanet_rare, ordo_group_of_disorders

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4985

closeMatch

http://identifiers.org/meddra/10061990

exactMatch

http://purl.obolibrary.org/obo/NCIT_C61272

http://identifiers.org/mesh/D006008

http://identifiers.org/snomedct/29633007

http://linkedlifedata.com/resource/umls/id/C0017919

https://omim.org/phenotypicSeries/PS232200

http://purl.obolibrary.org/obo/DOID_0050728

http://purl.obolibrary.org/obo/DOID_2747

http://www.orpha.net/ORDO/Orphanet_79201

http://purl.bioontology.org/ontology/ICD10CM/E74.0

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0000422

id

MONDO:0002412