has material basis in germline mutation in disease has feature EDNRB Sensorineural hearing impairment Albinism skin disorder autosomal recessive disease ABCD syndrome https://github.com/monarch-initiative/mondo/issues/5682 https://www.malacards.org/card/abcd_syndrome albinism, block lock, cell migration disorder of the neurocytes of the gut, and deafness DOID:0050600 ABCDS albinism, black lock, cell migration disorder of the Neurocytes of the gut, and deafness OMIM:600501 MEDGEN:333014 Orphanet:918 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:0010895 MESH:C535334 ABCD syndrome UMLS:C1838099