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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 the PBX1 gene on chromosome 1q23.3 or deletion of a genomic region that includes the PBX1 gene. (DO)
Synonyms:exact_synonym: CAKUTHED;   PBX1-RELATED CONDITION
 narrow_synonym: PBX1-RELATED INTELLECTUAL DISABILITY AND PLEIOTROPIC DEVELOPMENTAL DEFECTS
 primary_id: OMIM:617641
 alt_id: DOID:9006401


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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 condition | ClinVar Annotator: match by term: PBX1-related intellectual disability and pleiotropic developmental defects OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28566479 PMID:29036646 PMID:29226118 More... NCBI chr 1:139,985,392...140,311,845
Ensembl chr 1:143,778,701...144,104,797 		JBrowse link
G SON SON DNA and RNA binding protein ISO DNA:missense mutations:exon 3:multiple (human) RGD PMID:31005274 RGD:155641262 NCBI chr21:19,910,024...19,944,511
Ensembl chr21:33,282,910...33,316,007 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    syndrome 10173
      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 17996
    Developmental Disease 17885
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17802
        genetic disease 17786
          monogenic disease 10266
            autosomal genetic disease 9452
              autosomal dominant disease 6215
                congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 2
paths to the root