Search Ontology:
Human Disease
retinopathy sensory neuropathy syndrome
- Term ID
- DOID:0061157
- Synonyms
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- Posterior Column Ataxia with Retinitis Pigmentosa
- 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 )
Other Pages
Genes Involved
Zebrafish Models