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Disease Ontology Browser
retinopathy sensory neuropathy syndrome (DOID:0061157)
Alliance: disease page
Synonyms: Posterior Column Ataxia with Retinitis Pigmentosa
Alt IDs: OMIM:618339
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
07/29/2025
MGI 6.24 		The Jackson Laboratory