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joint laxity, familial

Go to external page http://purl.obolibrary.org/obo/MONDO_0007842

A type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility often complicated by dislocation of major joints, particularly the shoulder but in some cases the kneecap. Congenital hip dislocation has also been frequently reported. The syndrome has been described in several families. It is transmitted as an autosomal dominant trait, with high penetrance. [ https://orcid.org/0000-0001-5208-3432 Orphanet:2295 ]

Synonyms: familial joint laxity familial joint instability syndrome joint laxity, familial Ehlers-Danlos syndrome type 11, formerly Joint instability syndrome EDS XI

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:147900 (Orphanet:2295/e)
  • SCTID:71322004 (MONDO:equivalentTo)
  • GARD:3054 (MONDO:GARD)
  • MEDGEN:120629 (MONDO:equivalentTo)
  • Orphanet:2295 (OMIM:147900)
  • UMLS:C0268349 (MONDO:equivalentTo)
  • MESH:C535884 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disorder, otar, rare, orphanet_rare

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5634

exactMatch

http://linkedlifedata.com/resource/umls/id/C0268349

http://www.orpha.net/ORDO/Orphanet_2295

http://identifiers.org/medgen/120629

https://omim.org/entry/147900

http://identifiers.org/snomedct/71322004

http://identifiers.org/mesh/C535884

has related synonym

EDS11, formerly

Ehlers-Danlos syndrome, type 11 (formerly)

EDS11

EDS 11 (formerly)

Ehlers-Danlos syndrome, type Xi

Ehlers-Danlos syndrome, type Xi, formerly

EDS Xi, formerly

articular hypermobility syndrome

EDS Xi

id

MONDO:0007842

Term relations

Subclass of: