JSON

myotonic dystrophy

^ http://purl.obolibrary.org/obo/MONDO_0016107

An inherited progressive disorder affecting the muscles. It is characterized by muscle wasting and hypotonia, cataracts, heart conduction defects and endocrinopathies. [ NCIT:C84914 ]

Term info

database cross reference
  • Orphanet:206647 (MONDO:equivalentTo)
  • OMIMPS:160900 (MONDO:equivalentTo)
  • MESH:D009223 (Orphanet:206647/e)
  • MedDRA:10068871 (Orphanet:206647/e)
  • GARD:0010419 (MONDO:equivalentTo)
  • SCTID:240104008 (MONDO:equivalentTo)
  • DOID:450 (MONDO:equivalentTo)
  • ICD9:359.2 (DOID:450)
  • UMLS:C0027126 (Orphanet:206647/e)
  • NCIT:C84914 (MONDO:equivalentTo)
Subsets

disease_grouping, ordo_group_of_disorders

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5658

closeMatch

http://identifiers.org/meddra/10068871

definition

An inherited progressive disorder affecting the muscles. It is characterized by muscle wasting and hypotonia, cataracts, heart conduction defects and endocrinopathies.

exactMatch

http://purl.obolibrary.org/obo/NCIT_C84914, http://purl.obolibrary.org/obo/Orphanet_206647, https://omim.org/phenotypicSeries/PS160900, http://identifiers.org/mesh/D009223, http://purl.obolibrary.org/obo/DOID_450, http://identifiers.org/snomedct/240104008, http://linkedlifedata.com/resource/umls/id/C0027126

has exact synonym

inherited myotonic dystrophy

has related synonym

myotonia dystrophica, myotonic disease, myotonia atrophica

id

MONDO:0016107