disorder of glycogen metabolism
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 ]
Term info
- UMLS:C0017919 (Orphanet:79201/e)
- SCTID:29633007 (MONDO:equivalentTo)
- MESH:D006008 (Orphanet:79201/e)
- DOID:0050728 (MONDO:equivalentTo)
- MedDRA:10061990 (Orphanet:79201/e)
- NCIT:C61272 (MONDO:equivalentTo)
- ICD9:271.0 (MONDO:i2s)
- OMIMPS:232200 (MONDO:equivalentTo)
- DOID:2747 (MONDO:equivalentTo)
- Orphanet:79201 (MONDO:equivalentTo)
- ICD10CM:E74.0 (Orphanet:79201/specific)
disease_grouping, ordo_group_of_disorders
https://github.com/monarch-initiative/mondo/issues/4985
http://identifiers.org/meddra/10061990
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.
http://purl.obolibrary.org/obo/NCIT_C61272, http://identifiers.org/mesh/D006008, http://linkedlifedata.com/resource/umls/id/C0017919, http://identifiers.org/snomedct/29633007, https://omim.org/phenotypicSeries/PS232200, http://purl.obolibrary.org/obo/Orphanet_79201, http://purl.obolibrary.org/obo/DOID_0050728, http://purl.obolibrary.org/obo/DOID_2747, http://purl.bioontology.org/ontology/ICD10CM/E74.0
http://purl.obolibrary.org/obo/MONDO_0000422
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, glycogenosis, inborn glycogen metabolic process disorder
MONDO:0002412