Term Name: | ABCD syndrome |
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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 ) |