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Summary Literature (0)
DOID:0111119 - nephronophthisis 12

Disease Ontology Definition:A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TTC21B gene on chromosome 2q24.

Synonyms: NPHP12

Xenbase Genes : ttc21b

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0013442 - nephronophthisis 12

MIM:
MIM:613820 - NEPHRONOPHTHISIS 12; NPHP12

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

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