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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
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Accession:DOID:0112359 term browser browse the term
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. (DO)
Synonyms:exact_synonym: CAKUTHED
 narrow_synonym: PBX1-RELATED INTELLECTUAL DISABILITY AND PLEIOTROPIC DEVELOPMENTAL DEFECTS
 primary_id: OMIM:617641
 alt_id: DOID:9006401
For additional species annotation, visit the Alliance of Genome Resources.


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congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pbx1 PBX homeobox 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | ClinVar Annotator: match by term: PBX1-related intellectual disability and pleiotropic developmental defects
DNA:missense mutations:multiple (human)		 OMIM
ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:28566479 PMID:29036646 PMID:29226118 More... RGD:155630607 NCBI chr13:80,278,766...80,588,563
Ensembl chr13:80,278,770...80,588,594 		JBrowse link
G Son SON DNA and RNA binding protein ISO DNA:missense mutations:exon 3:multiple (human) RGD PMID:31005274 RGD:155641262 NCBI chr11:30,850,890...30,923,167
Ensembl chr11:30,892,005...30,923,167 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20983
    syndrome 10787
      congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 2
Path 2
Term Annotations click to browse term
  disease 20983
    Developmental Disease 18229
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18059
        genetic disease 17979
          monogenic disease 10257
            autosomal genetic disease 9392
              autosomal dominant disease 6398
                congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 2
paths to the root