Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
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

In OMIM:
OMIM:600501 - ABCD SYNDROME; ABCDS

In Mondo Disease Ontology:
MONDO:0010895 - ABCD syndrome

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)