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Ontology Browser

Term:
Bartter disease type 1 (DOID:0110142)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
Bartter disease +     
Autosomal Dominant Hypocalcemia, with Bartter Syndrome  
Bartter disease type 1  
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. (DO)
Bartter disease type 2  
Bartter disease type 3 +   
Bartter disease type 4A  
Bartter disease type 4b  
Bartter disease type 5  
Sensorineural Deafness with Mild Renal Dysfunction  

Synonyms
Exact Synonyms: BARTS1 ;   Bartter syndrome type 1 ;   Bartter syndrome type 1 antenatal ;   HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA 1, ANTENATAL ;   Hyperprostaglandin E syndrome 1 ;   Hypokalemic alkalosis with hypercalciuria, antenatal
Primary IDs: MESH:C537652 ;   RDO:0003530
Alternate IDs: OMIM:601678
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/9355073 "DO"

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