Any myofibrillar myopathy in which the cause of the disease is a mutation in the PYROXD1 gene. [ MONDO:patterns/disease_series_by_gene ]
Synonyms: myofibrillar myopathy 8 PYROXD1 myofibrillar myopathy (disease) myopathy, myofibrillar, 8 myofibrillar myopathy (disease) caused by mutation in PYROXD1 myopathy, myofibrillar, type 8
Term information
- DOID:0080308 (MONDO:equivalentTo)
- OMIM:617258 (MONDO:equivalentTo)
- UMLS:C4310645 (MONDO:ncbi_mim2gene_medline)
rare, inferred_rare, clingen
http://purl.obolibrary.org/obo/DOID_0080308
http://linkedlifedata.com/resource/umls/id/C4310645
https://omim.org/entry/617258