Any polyglucosan body myopathy in which the cause of the disease is a mutation in the GYG1 gene. [ MONDO:patterns/disease_series_by_gene ]
Synonyms: GYG1 polyglucosan body myopathy polyglucosan body myopathy caused by mutation in GYG1 polyglucosan body myopathy type 2
Term information
- OMIM:616199 (Orphanet:456369/e)
- UMLS:C4015452 (MONDO:ncbi_mim2gene_medline)
- GARD:17793 (Orphanet:456369)
- Orphanet:456369 (MONDO:equivalentTo)
gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen
https://github.com/monarch-initiative/mondo/issues/6130
https://github.com/monarch-initiative/mondo/issues/4985
http://linkedlifedata.com/resource/umls/id/C4015452
https://omim.org/entry/616199
http://www.orpha.net/ORDO/Orphanet_456369