Ehlers-Danlos syndrome, cardiac valvular type
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.
MONDO:0100547
cardiogenetic disease
is_a
MONDO:0100606
COL1A2-related Ehlers-Danlos syndrome
is_a
COL1A2-related Ehlers-Danlos syndrome, cardiac valvular type
exact
EDS, cardiac valvular type
exact
EDSCV
exact
Ehlers-Danlos syndrome, arthrochalasis type
related
Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form
exact
cardiac valvular form of Ehlers-Danlos syndrome
exact
cardiac valvular form of autosomal recessive Ehlers-Danlos syndrome
exact
cardiac-valvular EDS
exact
cardiac-valvular Ehlers-Danlos syndrome
exact
cvEDS
exact