Search Ontology:
Human Disease

retinitis pigmentosa 89

Term ID
DOID:0112146
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. https://pubmed.ncbi.nlm.nih.gov/32386558/
References
Ontology
Human Disease   ( DOID:0112146 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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