nephronophthisis-like nephropathy 1 Disease Ontology Browser

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Disease Ontology Browser

nephronophthisis-like nephropathy 1 (DOID:0111117)
Alliance: disease page
Synonyms: NPHPL1
Alt IDs: OMIM:613159
Definition: A nephronophthisis that has_material_basis_in homozygous mutation in the XPNPEP3 gene on chromosome 22q13.2.

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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