| Metadata | |
|---|---|
| ID | DOID:0112146 |
| Name | retinitis pigmentosa 89 |
| 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. https://pubmed.ncbi.nlm.nih.gov/32386558/ |
| Xrefs | |
| Synonyms |
RP89 [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a retinitis pigmentosa |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |