has characteristic has characteristic has material basis in germline mutation in SLC4A4 Autosomal recessive inheritance autosomal recessive disease proximal renal tubular acidosis autosomal recessive proximal renal tubular acidosis https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/proximal_renal_tubular_acidosis_ocular_anomaly_syndrome proximal renal tubular acidosis with ocular abnormalities and intellectual disability renal tubular acidosis, proximal, with ocular abnormalities and intellectual disability renal tubular acidosis, proximal, with ocular abnormalities and mental retardation MONDO:0011422 MEDGEN:370883 renal tubular acidosis, proximal, with ocular abnormalities RTA, proximal, autosomal recessive Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features. proximal renal tubular acidosis, autosomal recessive Orphanet:93607 OMIM:604278 GARD:0016826 DOID:0061167 AR pRTA UMLS:C1970309 MESH:C567038 inherited renal tubular disease inborn errors of metabolism