Brown-Vialetto-Van Laere syndrome 1 Disease Ontology Browser

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Disease Ontology Browser

Brown-Vialetto-Van Laere syndrome 1 (DOID:0080785)
Alliance: disease page
Alt IDs: OMIM:211530
Definition: A Brown-Vialetto-Van Laere syndrome that is characterized by progressive bulbar palsy with sensorineural deafness that has_material_basis_in homozygous or compound heterozygous mutation in the C20ORF54 gene (SLC52A3) on chromosome 20p13.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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