Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/601678
http://purl.bioontology.org/ontology/OMIM/601678
Preferred Name

BARTTER SYNDROME, TYPE 1, ANTENATAL
Synonyms
BARTS1
HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA 1, ANTENATAL
HYPERPROSTAGLANDIN E SYNDROME 1
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
BARTS1
HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA 1, ANTENATAL
HYPERPROSTAGLANDIN E SYNDROME 1
prefLabel
BARTTER SYNDROME, TYPE 1, ANTENATAL
Gene Symbol
SLC12A1
NKCC2
Scope Statement
Caused by mutation in the solute carrier family 12 (sodium/potassium/chloride transporters), member 1 gene (SLC12A1, 600839.0001) [MOLECULAR BASIS]
Genetic heterogeneity (see antenatal Bartter syndrome type 2, 241200) [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU002773
http://purl.bioontology.org/ontology/OMIM/MTHU005833
http://purl.bioontology.org/ontology/OMIM/MTHU003378
http://purl.bioontology.org/ontology/OMIM/MTHU005839
http://purl.bioontology.org/ontology/OMIM/MTHU005829
http://purl.bioontology.org/ontology/OMIM/MTHU005374
http://purl.bioontology.org/ontology/OMIM/MTHU000185
http://purl.bioontology.org/ontology/OMIM/MTHU003388
http://purl.bioontology.org/ontology/OMIM/MTHU005827
http://purl.bioontology.org/ontology/OMIM/MTHU036868
http://purl.bioontology.org/ontology/OMIM/MTHU000031
http://purl.bioontology.org/ontology/OMIM/MTHU003371
http://purl.bioontology.org/ontology/OMIM/MTHU001907
http://purl.bioontology.org/ontology/OMIM/MTHU000226
http://purl.bioontology.org/ontology/OMIM/MTHU003373
http://purl.bioontology.org/ontology/OMIM/MTHU000565
http://purl.bioontology.org/ontology/OMIM/MTHU037330
http://purl.bioontology.org/ontology/OMIM/MTHU005830
http://purl.bioontology.org/ontology/OMIM/MTHU005836
http://purl.bioontology.org/ontology/OMIM/MTHU000177
http://purl.bioontology.org/ontology/OMIM/MTHU004804
http://purl.bioontology.org/ontology/OMIM/MTHU003372
http://purl.bioontology.org/ontology/OMIM/MTHU000225
http://purl.bioontology.org/ontology/OMIM/MTHU036439
http://purl.bioontology.org/ontology/OMIM/MTHU005439
http://purl.bioontology.org/ontology/OMIM/MTHU003381
http://purl.bioontology.org/ontology/OMIM/MTHU005835
http://purl.bioontology.org/ontology/OMIM/MTHU028128
http://purl.bioontology.org/ontology/OMIM/MTHU000133
http://purl.bioontology.org/ontology/OMIM/MTHU037171
http://purl.bioontology.org/ontology/OMIM/MTHU037106
http://purl.bioontology.org/ontology/OMIM/MTHU005828
http://purl.bioontology.org/ontology/OMIM/MTHU005831
http://purl.bioontology.org/ontology/OMIM/MTHU003375
http://purl.bioontology.org/ontology/OMIM/MTHU000081
http://purl.bioontology.org/ontology/OMIM/MTHU003374
http://purl.bioontology.org/ontology/OMIM/MTHU003382
http://purl.bioontology.org/ontology/OMIM/MTHU005834
http://purl.bioontology.org/ontology/OMIM/MTHU000145
http://purl.bioontology.org/ontology/OMIM/MTHU037795
http://purl.bioontology.org/ontology/OMIM/MTHU036717
http://purl.bioontology.org/ontology/OMIM/MTHU000242
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tui
T047
Gene Locus
15q15-q21.1
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
601678
Semantic type UMLS property
Has inheritance type
cui
C1866495
OMIM Entry Type
3
OMIM MimType Value
pound
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