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nemaline myopathy

Go to external page http://purl.obolibrary.org/obo/MONDO_0018958

Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy. [ Orphanet:607 ]

Synonyms: nemaline myopathy NEM nemaline rod myopathy nemaline body disease rod myopathy NM

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C0206157 (Orphanet:607/e)
  • MESH:D017696 (Orphanet:607/e)
  • OMIMPS:161800 (MONDO:equivalentTo)
  • SCTID:75072002 (MONDO:equivalentTo)
  • NORD:1493 (MONDO:NORD)
  • DOID:3191 (MONDO:equivalentTo)
  • GARD:12033 (Orphanet:607)
  • Orphanet:607 (MONDO:equivalentTo)
Subsets

gard_rare, disease_grouping, rare, orphanet_rare, clingen, ordo_group_of_disorders

exactMatch

https://omim.org/phenotypicSeries/PS161800

http://purl.obolibrary.org/obo/DOID_3191

http://identifiers.org/mesh/D017696

http://linkedlifedata.com/resource/umls/id/C0206157

http://identifiers.org/snomedct/75072002

http://www.orpha.net/ORDO/Orphanet_607

has related synonym

congenital rod disease

nemaline rod disease

Rod-body myopathy

Rod body disease

id

MONDO:0018958

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0018958

Term relations