Disease #00712 (BARTS1 (Bartter syndrome, type 1 (BARTS1)), OMIM:601678)

Official abbreviation BARTS1
Name Bartter syndrome, type 1 (BARTS1)
OMIM ID 601678
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 5
Phenotype entries for this disease 1
Associated with 1 gene SLC12A1
Associated tissues -
Disease features -
Remarks -


Individuals

5 entries on 1 page. Showing entries 1 - 5.
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00081057 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - BARTS1 Bartter syndrome, type 1 (OMIM:601678) SLC12A1 SLC12A1 1 1 Daniel Trujillano
00361936 Pat18 PubMed: Brochard 2009 - F - France white - 0 - - BARTS1 - SLC12A1 SLC12A1 1 1 Rosa Vargas-Poussou
00361937 Pat19 PubMed: Brochard 2009 - M yes Morocco - - 0 - - BARTS1 - SLC12A1 SLC12A1 1 1 Rosa Vargas-Poussou
00361938 Pat23 PubMed: Brochard 2009 - F - France - - 0 - - BARTS1 - SLC12A1 SLC12A1 1 1 Rosa Vargas-Poussou
00361939 BAN0078001 - - M no France - - 0 - - BARTS1 - SLC12A1 SLC12A1 2 1 Rosa Vargas-Poussou
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