JSON

myopathy, myofibrillar, 9, with early respiratory failure

Go to external page http://purl.obolibrary.org/obo/MONDO_0011362

Synonyms: myofibrillar myopathy with early respiratory failure ADMERF hereditary proximal myopathy with early respiratory failure hereditary inclusion body myopathy with early respiratory failure Edström myopathy myopathy, proximal, with early respiratory muscle involvement HMERF-ERF myopathy, distal, with early respiratory failure, autosomal dominant HMERF Edstrom myopathy HIBM-ERF distal myopathy with early respiratory muscle involvement myopathy, myofibrillar, 9, with early respiratory failure

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:C564377 (MONDO:equivalentTo)
  • UMLS:C1863599 (Orphanet:178464)
  • GARD:12591 (Orphanet:178464)
  • SCTID:702373006 (MONDO:equivalentTo)
  • SCTID:733490006 (MONDO:equivalentObsolete)
  • DOID:0111188 (MONDO:equivalentTo)
  • OMIM:603689 (Orphanet:178464/e)
  • Orphanet:178464 (OMIM:603689)
  • UMLS:C1843633 (Orphanet:34521)
  • Orphanet:34521 (OMIM:607569)
  • OMIM:607569 (Orphanet:34521/e)
  • MESH:C566343 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

exactMatch

https://omim.org/entry/603689

http://identifiers.org/mesh/C566343

http://linkedlifedata.com/resource/umls/id/C1863599

http://purl.obolibrary.org/obo/DOID_0111188

http://www.orpha.net/ORDO/Orphanet_178464

http://identifiers.org/snomedct/702373006

http://identifiers.org/mesh/C564377

id

MONDO:0011362

seeAlso

https://rarediseases.info.nih.gov/diseases/12591/hereditary-proximal-myopathy-with-early-respiratory-failure

https://search.clinicalgenome.org/kb/conditions/MONDO:0011362