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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:CAKUT2
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Accession:DOID:0080207 term browser browse the term
Definition:A CAKUT that has_material_basis_in heterozygous mutation in the TBX18 gene on chromosome 6q14. (DO)
Synonyms:exact_synonym: Congenital anomalies of the kidney and urinary tract 2;   Hydronephrosis Due To Pujo;   MCRD;   Multicystic Renal Dysplasia, Bilateral;   PUJO;   Pelvi-ureteric junction obstruction;   Pelviureteric Junction Obstruction;   UPJO;   congenital anomalies of kidney and urinary tract 2
 related_synonym: ureteropelvic junction obstruction
 primary_id: MESH:C537373
 alt_id: OMIM:143400

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CAKUT2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO DNA:mutations:cds: c.485G> A (p.R162Q), c.1167T> C(human) RGD PMID:21927809 RGD:13446406 NCBI chrNW_004936697:1,054,237...1,061,468
Ensembl chrNW_004936697:1,056,636...1,061,468 		JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793 		JBrowse link
G Tbx18 T-box transcription factor 18 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 2 | ClinVar Annotator: match by term: Pelvi-ureteric junction obstruction OMIM
ClinVar		 PMID:25741868 PMID:25741890 PMID:26235987 PMID:28492532 PMID:30143558 NCBI chrNW_004936510:6,366,450...6,396,056
Ensembl chrNW_004936510:6,366,846...6,393,882 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chrNW_004936502:13,345,936...13,350,170
Ensembl chrNW_004936502:13,345,832...13,350,248 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        genetic disease 16311
          CAKUT2 4
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      Urogenital Diseases 4491
        urinary system disease 2276
          ureteral disease 162
            vesicoureteral reflux 68
              CAKUT 56
                CAKUT2 4
paths to the root