FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term retinopathy sensory neuropathy syndrome ID (Ontology) DOID:0061157 (Human Disease)
Definition A syndrome characterized by progressive visual impairment due to retinopathy (usually retinitis pigmentosa) and progressive sensory neuropathy resulting in distal sensory loss of various modalities (vibration, proprioception, pain) that has_material_basis_inhomozygous or compound heterozygous mutation in the FLVCR1 gene on chromosome 1q32.
Also Known As "Posterior Column Ataxia with Retinitis Pigmentosa"
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 Genes
 retinopathy sensory neuropathy syndrome       1
 for disease ribbon | retinopathy sensory neuropathy syndrome       1
 model of | retinopathy sensory neuropathy syndrome       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 retinopathy sensory neuropathy syndrome  1 rec.
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Is a autosomal recessive disease
syndrome
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Synonyms
  • "Posterior Column Ataxia with Retinitis Pigmentosa" EXACT
Secondary IDs
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MIM:618339