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Summary Literature (0)
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: ABCDS, albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness, albinism, block lock, cell migration disorder of the neurocytes of the gut, and deafness

Referenced OMIM:
OMIM:600501 - ABCD SYNDROME; ABCDS

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : ednrb

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal recessive disease (is_a), syndrome (is_a)


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