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Disease Ontology Browser
ABCD syndrome (DOID:0050600)
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Synonyms: albinism, block lock, cell migration disorder of the neurocytes of the gut, and deafness
Alt IDs: OMIM:600501
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).


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/14/2017
MGI 6.11
The Jackson Laboratory