nephronophthisis 20

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Summary

Literature (0)

DOID:0111127 - nephronophthisis 20

Disease Ontology Definition:A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the MAPKBP1 gene on chromosome 15q15.

Synonyms: NPHP20

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

: mapkbp1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014997 - nephronophthisis 20

MONDO:0014997 - nephronophthisis 20

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

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

Parent(s): nephronophthisis (is_a)