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Summary Literature (0)
DOID:0112359 - congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay


Disease Ontology Definition:A syndrome characterized by variable congenital anomalies of the kidney and urinary tract and variable presentation of ear abnormalities, hearing loss, and global developmental delay that has_material_basis_in heterozygous mutation in PBX1 on chromosome 1q23.3 or deletion of a genomic region that includes PBX1.

Synonyms: CAKUTHED

Xenbase Genes : pbx1


OMIM:
OMIM:617641 - CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY; CAKUTHED

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), syndrome (is_a)