Term Name: ABCD syndrome
Synonyms: ABCDS, albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness
Definition: A syndrome 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).
Ontology: Human Disease [DOID:0050600]   ( DOID:0050600 )

Relationships
is a type of: autosomal recessive disease syndrome