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DO Term : retinitis pigmentosa 89 [DOID:0112146] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • OMIM:618955,
  • RP89,
  • 618955
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