Search Ontology:
Human Disease

Bartter disease type 1

Term ID
DOID:0110142
Synonyms
  • BARTS1
  • Bartter syndrome type 1
  • Bartter syndrome type 1 antenatal
  • hyperprostaglandin E syndrome 1
  • hypokalemic alkalosis with hypercalciuria 1 antenatal
Definition
A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the sodium-potassium-chloride cotransporter-2 gene (SLC12A1) on chromosome 15q21. https://www.ncbi.nlm.nih.gov/pubmed/9355073
References
Ontology
Human Disease   ( DOID:0110142 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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