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DO Term : Bartter disease type 1 [DOID:0110142] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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.

synonyms:
BARTS1,
ICD10CM:E26.8,
hypokalemic alkalosis with hypercalciuria 1 antenatal,
OMIM:601678,
601678,
Bartter syndrome type 1 antenatal,
Bartter syndrome type 1,
hyperprostaglandin E syndrome 1

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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