Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by congenital limb contractures. It manifests as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. AMC is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures. [ Orphanet:1037 ]

Synonyms: multiple congenital arthrogryposis Arthromyodysplasia congenita AMC arthrogryposis multiplex congenita myodysplasia congenital arthromyodysplasia

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:777 (MONDO:GARD)
  • MedDRA:10051643 (Orphanet:1037/e)
  • UMLS:C5779613 (MONDO:equivalentTo)
  • OMIMPS:617468 (MONDO:equivalentTo)
  • Orphanet:1037 (MONDO:equivalentTo)
  • NORD:810 (MONDO:NORD)
  • icd11.foundation:1930990330 (Orphanet:1037)
  • MEDGEN:1830310 (MONDO:equivalentTo)
  • DOID:0080954 (MONDO:equivalentTo)
Subsets

gard_rare, otar, disease_grouping, rare, nord_rare, clingen, ordo_group_of_disorders

ClinGen label
arthrogryposis multiplex congenita

abbreviation
AMC [ Orphanet:1037 ]

closeMatch

http://identifiers.org/meddra/10051643

exactMatch

http://identifiers.org/medgen/1830310

http://purl.obolibrary.org/obo/DOID_0080954

https://omim.org/phenotypicSeries/PS617468

http://linkedlifedata.com/resource/umls/id/C5779613

http://www.orpha.net/ORDO/Orphanet_1037

has related synonym

rocher-Sheldon syndrome

Rossi syndrome

fibrous ankylosis of multiple joints

Otto syndrome

congenital amyoplasia

myodystrophia fetalis deformans

Guérin-Stern syndrome

Guerin-Stern syndrome

amyoplasia congenita

id

MONDO:0015168

should conform to

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

Term relations