ABCD syndrome
An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has material basis in a mutation in the endothelin B receptor gene (EDNRB).
MONDO:0005093
skin disorder
excluded_subClassOf
MONDO:0006025
autosomal recessive disease
is_a
ABCD syndrome
exact
ABCDS
related
albinism, block lock, cell migration disorder of the neurocytes of the gut, and deafness
exact