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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

OMIM:618955

Synonyms

RP89 [EXACT]

Parent Relationships

is_a retinitis pigmentosa

is_a autosomal dominant disease

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