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nemaline myopathy 5

Go to external page http://purl.obolibrary.org/obo/MONDO_0011539

Amish nemaline myopathy is a type of nemaline myopathy (NM) only observed in several families of the Amish community. [ Orphanet:98902 ]

Synonyms: ANM TNNT1 nemaline myopathy nemaline myopathy 5 nemaline myopathy type 5 nemaline myopathy caused by mutation in TNNT1 nemaline myopathy 5, Amish type Amish nemaline myopathy NEM5

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:605355 (Orphanet:98902/e)
  • UMLS:C1854380 (OMIM:605355)
  • MESH:C538397 (MONDO:equivalentTo)
  • DOID:0110936 (MONDO:equivalentTo)
  • Orphanet:98902 (MONDO:equivalentTo)
  • GARD:8334 (Orphanet:98902)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

exactMatch

http://purl.obolibrary.org/obo/DOID_0110936

http://linkedlifedata.com/resource/umls/id/C1854380

http://www.orpha.net/ORDO/Orphanet_98902

http://identifiers.org/mesh/C538397

https://omim.org/entry/605355

has related synonym

nemaline myopathy, Amish type

nemaline myopathy, caused by mutation in the troponin t1 gene

id

MONDO:0011539

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0011539

Term relations

Subclass of: