Search Ontology:
Human Disease

retinopathy sensory neuropathy syndrome

Term ID
DOID:0061157
Synonyms
  • PCARP
  • Posterior Column Ataxia with Retinitis Pigmentosa
  • posterior column ataxia-retinitis pigmentosa syndrome
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. https://pubmed.ncbi.nlm.nih.gov/39306721/
References
Ontology
Human Disease   ( DOID:0061157 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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