ABCD syndrome (DOID:0050600)
Alliance: disease page
Synonyms: ABCDS; albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness
Alt IDs: OMIM:600501, MESH:C535334
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).