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DOID:0050600 - ABCD syndrome
Disease Ontology 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).
Synonyms: albinism, block lock, cell migration disorder of the neurocytes of the gut, and deafness, ABCDS, albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness
Echinobase Genes
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| MIM:600501 - abcd syndrome; abcds |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)