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Ehlers-Danlos Syndrome, Cardiac Valvular Type (MONDO:0009159)

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.

Overview

Category

syndromic disease

cardiovascular disorder

Ontology ID

MONDO:0009159

Internal:10403

Synonyms

COL1A2-related Ehlers-Danlos syndrome, cardiac valvular type

EDS, cardiac valvular type

EDSCV

Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form

cardiac valvular form of Ehlers-Danlos syndrome

cardiac valvular form of autosomal recessive Ehlers-Danlos syndrome

cardiac-valvular EDS

cardiac-valvular Ehlers-Danlos syndrome

cvEDS

Ehlers-Danlos syndrome, arthrochalasis type

Mapped terms

DOID:0080730

GARD:0012613

MEDGEN:929458

MESH:C536200

OMIM:225320

Orphanet:230851

SCTID:720858001

UMLS:C4303789

icd11.foundation:531375176

Child terms

Unknown children.

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