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Echinobase
Summary Literature (0)
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:
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)