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DOID:0111125 - nephronophthisis 18
Disease Ontology Definition:A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP83 gene on chromosome 12q22.
Synonyms: NPHP18,
Echinobase Genes :
MIM:615862 - nephronophthisis 18; nphp18 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
nephronophthisis (is_a)