JSON

congenital myotonic dystrophy

^ http://purl.obolibrary.org/obo/MONDO_0023595

Myotonic dystrophy that is present at birth. [ NCIT:C123308 ]

Term info

database cross reference
  • NCIT:C123308 (UMLS:C0410226)
  • GARD:0009134 (MONDO:equivalentTo)
  • UMLS:C0410226 (MONDO:equivalentTo)
Subsets

gard_rare

IAO 0000233

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

definition

Myotonic dystrophy that is present at birth.

exactMatch

http://linkedlifedata.com/resource/umls/id/C0410226, http://purl.obolibrary.org/obo/NCIT_C123308

has exact synonym

congenital myotonic dystrophy

has related synonym

Myotonic dystrophy, Congenital, MYOTONIC dystrophy CONGEN, dystrophies, Congenital Myotonic, Congenital Myotonic dystrophies, Myotonic dystrophies, Congenital, dystrophy, Congenital Myotonic, Congenital Myotonic dystrophy, Congenital myotonic dystrophy

id

MONDO:0023595