Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Echinobase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Echinobase
Summary Literature (0)
DOID:0111112 - nephronophthisis 1

Disease Ontology Definition:A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13.

Synonyms: NPH1, NPHP1, juvenile nephronophthisis 1,

Echinobase Genes : nphp1


OMIM:
MIM:256100 - nephronophthisis 1; nphp1

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

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