| Metadata | |
|---|---|
| ID | DOID:0061157 |
| PURL | http://purl.obolibrary.org/obo/DOID_0061157 Copy |
| Name | retinopathy sensory neuropathy 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/ |
| Xrefs |
SNOMEDCT_US_2025_09_01:724065003 |
| SKOS |
exactMatch UMLS_CUI:C1836916 exactMatch MESH:C536343 exactMatch ORDO:88628 exactMatch MIM:609033 exactMatch GARD:9898 |
| Synonyms |
PCARP [EXACT] Posterior Column Ataxia with Retinitis Pigmentosa [EXACT] posterior column ataxia-retinitis pigmentosa syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |