Search Ontology:
Human Disease

Bartter disease type 2

Term ID
DOID:0110143
Synonyms
  • BARTS2
  • Bartter syndrome type 2
  • Bartter syndrome type 2 antenatal
  • hyperprostaglandin E syndrome 2
  • hypokalemic alkalosis with hypercalciuria 2 antenatal
Definition
A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the potassium channel ROMK gene (KCNJ1) on chromosome 11q24. https://www.ncbi.nlm.nih.gov/pubmed/9326936
References
Ontology
Human Disease   ( DOID:0110143 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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