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Summary Literature (2)
DOID:0111113 - nephronophthisis 2


Disease Ontology Definition:A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the INVS gene on chromosome 9q31.

Synonyms: NPH2, NPHP2, infantile nephronophthisis 2

Xenbase Genes : invs

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011190 - nephronophthisis 2

OMIM:
OMIM:602088 - NEPHRONOPHTHISIS 2; NPHP2

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

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