FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Brown-Vialetto-Van Laere syndrome 2 ID (Ontology) DOID:0080786 (Human Disease)
Definition A Brown-Vialetto-Van Laere syndrome that is characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting of the upper and lower limbs and axial muscles, resulting in respiratory insufficiency and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC52A2 gene on chromosome 8q24.
Also Known As "SCABD2" ; "spinocerebellar ataxia with blindness and deafness 2"
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Data Class Field Records
Human Disease Models (FBhh)  DOID       1
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 Genes Human Disease Models
 Brown-Vialetto-Van Laere syndrome 2       1      1
 for disease ribbon | Brown-Vialetto-Van Laere syndrome 2       1       --
 model of | Brown-Vialetto-Van Laere syndrome 2       1       --
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease________
syndrome                               |
 |__Brown-Vialetto-Van Laere syndrome__|
                                       Brown-Vialetto-Van Laere syndrome 2  2 rec.
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Is a Brown-Vialetto-Van Laere syndrome
autosomal recessive disease
Part of
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Synonyms
  • "autosomal recessive spinocerebellar ataxia 3" RELATED
    "autosomal recessive spinocerebellar ataxia type 3" RELATED
    "autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome" BROAD
    "autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome" BROAD
    "SCABD" BROAD OMO:0003012
    "SCABD2" EXACT OMO:0003012
    "SCAR3" RELATED OMO:0003012
    "spinocerebellar ataxia with blindness and deafness 2" EXACT
Secondary IDs
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GARD:9971
MESH:C537309
MIM:614707
ORDO:95433
SNOMEDCT_US_2023_03_01:1204415006
UMLS_CUI:C1849094