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Summary Literature (0)
DOID:0111112 - nephronophthisis 1

Disease Ontology Definition:A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13.

Synonyms: NPH1, NPHP1, juvenile nephronophthisis 1,

Xenbase Genes : mapkbp1, nphp1, nphp4.2, wdr19, adamts9, anks6, glis2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009728 - nephronophthisis 1


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): nephronophthisis (is_a)