proximal renal tubular acidosis-ocular anomaly syndrome Disease Ontology Browser

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Disease Ontology Browser

proximal renal tubular acidosis-ocular anomaly syndrome (DOID:0061195)
Alliance: disease page
Alt IDs: OMIM:604278
Definition: A renal tubular acidosis characterized by a decreased renal HCO3- threshold that has_material_basis_in homozygous mutation in the SLC4A4 gene on chromosome 4q13.

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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