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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: juvenile nephronophthisis 1, NPH1, NPHP1
Xenbase Genes
:
mapkbp1,
nphp1,
nphp4.2,
wdr19,
adamts9,
anks6,
glis2,
nphp4
| MONDO:0009728 - nephronophthisis 1 |
| MIM:256100 - NEPHRONOPHTHISIS 1; NPHP1 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
nephronophthisis (is_a)