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Metadata
ID	DOID:0061195
Name	proximal renal tubular acidosis-ocular anomaly syndrome
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. https://pubmed.ncbi.nlm.nih.gov/10577919/
Xrefs	MIM:604278
Parent Relationships	is_a renal tubular acidosis is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance