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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

Referenced OMIM:
OMIM:602088 - NEPHRONOPHTHISIS 2; NPHP2

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : invs

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): nephronophthisis (is_a)


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