ZFIN Human Disease: congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay

OBO ID: DOID:0112359

OBO ID: DOID:0112359

Term Name:	congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	Search Ontology:
Synonyms:	CAKUTHED
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 the PBX1 gene on chromosome 1q23.3 or deletion of a genomic region that includes the PBX1 gene. (2)
References:	OMIM:617641
Ontology:	Human Disease ( DOID:0112359 )

Relationships

is a type of:	autosomal dominant disease syndrome autosomal dominant disease syndrome Show first 5 Terms

OTHER congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PBX1	pbx1a pbx1b	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	617641

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None