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