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Summary Literature (2)
DOID:0110144 - Bartter disease type 3

Disease Ontology Definition:A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the kidney chloride channel B gene (CLCNKB) on chromosome 1p36.

Synonyms: BARTS3, Bartter syndrome type 3, classic Bartter syndrome

Xenbase Genes : clcnkb

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011822 - dense irregular connective tissue

MIM:
MIM:607364 - BARTTER SYNDROME, TYPE 3; BARTS3

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s): Bartter disease (is_a)