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Ontology Browser

Term:
Bartter disease type 2 (DOID:0110143)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Bartter disease +     
Autosomal Dominant Hypocalcemia, with Bartter Syndrome  
Bartter disease type 1  
Bartter disease type 2  
A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the potassium channel ROMK gene (KCNJ1) on chromosome 11q24. (DO)
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: BARTS2 ;   Bartter syndrome type 2 ;   Bartter syndrome type 2 antenatal ;   HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA 2, ANTENATAL ;   Hyperprostaglandin E syndrome 2
Primary IDs: MESH:C537651
Alternate IDs: OMIM:241200 ;   RDO:0003528
Xrefs: ICD10CM:E26.8
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/9326936 "DO"

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