ABCD syndrome
ABCD syndrome
exact
ABCDS
related
albinism, block lock, cell migration disorder of the neurocytes of the gut, and deafness
exact
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