nephronophthisis-like nephropathy 1

Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.

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

MIM:

MIM:613159 - NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1; NPHPL1

MIM:613159 - NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1; NPHPL1

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

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

Parent(s): nephronophthisis (is_a)