Term Name:	proximal renal tubular acidosis-ocular anomaly syndrome
Synonyms:
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.
Ontology:	Human Disease [DOID:0061195]   ( DOID:0061195 )