Brown-Vialetto-Van Laere syndrome 1

Summary

DOID:0080785 - Brown-Vialetto-Van Laere syndrome 1

Disease Ontology 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.

Synonyms:

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: slc52a3

MIM:

MIM:211530 - BROWN-VIALETTO-VAN LAERE SYNDROME 1; BVVLS1

MIM:211530 - BROWN-VIALETTO-VAN LAERE SYNDROME 1; BVVLS1

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), Brown-Vialetto-Van Laere syndrome (is_a)