Term Name: | retinitis pigmentosa 89 |
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Synonyms: | RP89 |
Definition: | A retinitis pigmentosa characterized by onset of retinitis pigmentosa in the first decade of life and additional features of ciliopathy that has_material_basis_in heterozygous mutation in the KIF3B gene on chromosome 20q11.21. |
Ontology: | Human Disease [DOID:0112146] ( DOID:0112146 ) |