| Term Name: | retinitis pigmentosa 100 |
|---|---|
| Synonyms: | |
| Definition: | A retinitis pigmentosa characterized by the onset of night blindness in childhood or young adulthood, followed by progressive visual field constriction and that has_material_basis_in compound heterozygous mutation in the TBC1D32 gene on chromosome 6q22. |
| Ontology: | Human Disease [DOID:0061298] ( DOID:0061298 ) |