Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence. [ Orphanet:75840 ]

This is just here as a test because I lose it

Term information

database cross reference
  • OMIMPS:254090 (MONDO:equivalentTo)
  • UMLS:C0410179 (Orphanet:75840)
  • Orphanet:75840 (OMIM:254090)
  • ICD10:G71.2 (Orphanet:75840)
  • MESH:C537521 (MONDO:equivalentTo)
  • DOID:0050558 (MONDO:equivalentTo)
  • SCTID:240062007 (MONDO:equivalentTo)
  • GARD:0004769 (MONDO:equivalentTo)
  • NCIT:C123438 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease

abbreviation
UCMD [ Orphanet:75840 GARD:0004769 ]

definition

Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence.

exactMatch

http://purl.obolibrary.org/obo/DOID_0050558

http://identifiers.org/snomedct/240062007

http://identifiers.org/mesh/C537521

http://www.orpha.net/ORDO/Orphanet_75840

http://purl.obolibrary.org/obo/NCIT_C123438

http://linkedlifedata.com/resource/umls/id/C0410179

has exact synonym

scleroatonic muscular dystrophy

UCMD

Ullrich scleroatonic muscular dystrophy

scleroatonic Ullrich disease

has related synonym

late onset scleroatonic familial myopathy (subtype)

congenital muscular dystrophy, Ullrich type

Ullrich disease

id

MONDO:0000355

should conform to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml