Bartter disease type 4a

Summary

DOID:0110145 - Bartter disease type 4a

Disease Ontology Definition:A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the BSND gene on chromosome 1p32.

Synonyms: BARTS4A, Bartter syndrome type 4a, Bartter syndrome type 4a , BSND, neonatal Bartter syndrome with sensorineural deafness

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: bsnd, clcnkb

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011242 - Bartter disease type 4A

MONDO:0011242 - Bartter disease type 4A

MIM:

MIM:602522 - BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4A

MIM:602522 - BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4A

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): Bartter disease (is_a)