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Summary Literature (0)
DOID:0111127 - nephronophthisis 20

Disease Ontology Definition:A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the MAPKBP1 gene on chromosome 15q15.

Synonyms: NPHP20,

Xenbase Genes : mapkbp1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014997 - nephronophthisis 20


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

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