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Disease Ontology Browser
ABCD syndrome (DOID:0050600)
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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).

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory