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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 OMIM
ClinVar
PMID:25741868 PMID:28566479 PMID:29036646 PMID:29226118 PMID:32860008 NCBI chr13:80,278,766...80,588,563
Ensembl chr13:80,278,770...80,588,594
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    syndrome 9686
      congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 1
Path 2
Term Annotations click to browse term
  disease 18133
    Developmental Disease 12879
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11579
        genetic disease 11109
          monogenic disease 8599
            autosomal genetic disease 7602
              autosomal dominant disease 5125
                congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 1
paths to the root