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Echinobase
Summary Literature (0)
DOID:0111117 - nephronophthisis-like nephropathy 1


Disease Ontology Definition:A nephronophthisis that has_material_basis_in homozygous mutation in the XPNPEP3 gene on chromosome 22q13.2.

Synonyms: NPHPL1,

Echinobase Genes : xpnpep3


OMIM:
MIM:613159 - nephronophthisis-like nephropathy 1; nphpl1

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

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