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autosomal recessive distal renal tubular acidosis 3 with or without sensorineural hearing loss (DOID:0061166)
Alliance: disease page
Alt IDs: OMIM:602722
Definition: A renal tubular transport disease characterized by the failure of the kidney to produce an appropriately acid urine in the presence of systemic metabolic acidosis or after acid loading, due to failure of hydrogen ion secretion or bicarbonate reabsorption in the distal nephron that has_material_basis_in homozygous mutation in the ATP6N1B gene on chromosome 7q34.

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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07/29/2025
MGI 6.24 		The Jackson Laboratory