Ellis-van Creveld syndrome
Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects.
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0018770
Jeune syndrome
is_a
MONDO:0019287
ectodermal dysplasia syndrome
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MONDO:0100547
cardiogenetic disease
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Chondroectodermal dysplasia
exact
EVC
exact
Ellis Van Creveld Syndrome
exact
Ellis Van Creveld syndrome
exact
Ellis-VAN Creveld syndrome
exact
Ellis-van Creveld syndrome
exact
Mesoectodermal dysplasia
exact
mesodermic dysplasia
exact