Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM) characterized by severe hypotonia with little spontaneous movement in neonates. [ Orphanet:171430 ]

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:12821 (Orphanet:171430)
  • Orphanet:171430 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4069

exactMatch

http://www.orpha.net/ORDO/Orphanet_171430

has related synonym

severe congenital (neonatal) NM

id

MONDO:0015735

seeAlso

https://rarediseases.info.nih.gov/diseases/12821/severe-congenital-nemaline-myopathy