Search Ontology:
Human Disease
proximal renal tubular acidosis-ocular anomaly syndrome
- Term ID
- DOID:0061195
- Synonyms
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- 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/
- References
- Ontology
- Human Disease ( DOID:0061195 )
Other Pages
Genes Involved
Zebrafish Models