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DO Term : nephronophthisis 9 [DOID:0111120] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A nephronophthisis that has_material_basis_in homozygous mutation in the NEK8 gene on chromosome 17q11.
  • synonyms:
  • NPHP9,
  • OMIM:613824,
  • 613824
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