nephronophthisis-like nephropathy 1

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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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: xpnpep3

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013163 - nephronophthisis-like nephropathy 1

MONDO:0013163 - nephronophthisis-like nephropathy 1

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): nephronophthisis (is_a)