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Ehlers-Danlos syndrome, cardiac valvular type

Go to external page http://purl.obolibrary.org/obo/MONDO_0009159

Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency. [ Orphanet:230851 ]

Synonyms: Ehlers-Danlos syndrome, cardiac valvular type EDS, cardiac valvular type

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:C536200 (MONDO:equivalentTo)
  • DOID:0080730 (MONDO:equivalentTo)
  • Orphanet:230851 (OMIM:225320)
  • GARD:12613 (Orphanet:230851)
  • SCTID:720858001 (MONDO:equivalentTo)
  • OMIM:225320 (Orphanet:230851/e)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

exactMatch

http://identifiers.org/snomedct/720858001

http://www.orpha.net/ORDO/Orphanet_230851

http://purl.obolibrary.org/obo/DOID_0080730

https://omim.org/entry/225320

http://identifiers.org/mesh/C536200

has related synonym

Ehlers-Danlos syndrome, CARDIAC valvular type

Ehlers-Danlos syndrome, autosomal recessive, CARDIAC valvular form

Cardiac-valvular EDS

Cardiac valvular form of autosomal recessive Ehlers-Danlos syndrome

Cardiac-valvular Ehlers-Danlos syndrome

cvEDS

EDSCV

Cardiac valvular form of Ehlers-Danlos syndrome

Ehlers-Danlos syndrome, autosomal recessive, Cardiac valvular form

Ehlers-Danlos syndrome, arthrochalasis type

id

MONDO:0009159

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0009159

Term relations