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DO Term : Brown-Vialetto-Van Laere syndrome 1 [DOID:0080785] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  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:
  • OMIM:211530,
  • 211530
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents





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