Senior-Loken syndrome 6 Disease Ontology Browser

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Disease Ontology Browser

Senior-Loken syndrome 6 (DOID:0061280)
Alliance: disease page
Alt IDs: OMIM:610189
Definition: A Senior-Loken syndrome characterized by the association of nephronophthisis resulting in end-stage renal disease in the second decade of life with retinal degeneration that has_material_basis_in homozygous mutation in the NPHP6 gene on chromosome 12q21.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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