FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term autosomal recessive distal renal tubular acidosis 3 with or without sensorineural hearing loss ID (Ontology) DOID:0061166 (Human Disease)
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.
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 autosomal recessive distal renal tubular acidosis 3 with or without sensorineural hearing loss       1
 for disease ribbon | autosomal recessive distal renal tubular acidosis 3 with or without sensorineural hearing loss       1
 model of | autosomal recessive distal renal tubular acidosis 3 with or without sensorineural hearing loss       1
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autosomal genetic disease
 |__autosomal recessive disease__
renal tubular transport disease  |
 |__renal tubular acidosis_______|
                                 autosomal recessive distal renal tubular acidosis 3 with or without sensorineural hearing loss  1 rec.
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Is a autosomal recessive disease
renal tubular acidosis
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MIM:602722