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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,

Echinobase Genes : ttc21b

OMIM:613820 - nephronophthisis 12; nphp12 joubert syndrome 11, included; jbts11, included

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

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