OBO ID: DOID:0110142
Term Name: Bartter disease type 1 Search Ontology:
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)
OTHER Bartter disease type 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLC12A1 Bartter syndrome, type 1 601678
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None