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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Tbx18 T-box transcription factor 18 ISO ClinVar Annotator: match by term: Multicystic renal dysplasia, bilateral ClinVar
OMIM
PMID:26235987 NCBI chr 8:95,359,354...95,387,363
Ensembl chr 8:95,359,354...95,387,363
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chr  X:1,364,771...1,369,451
Ensembl chr  X:1,364,786...1,369,384
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          CAKUT2 4
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      Urogenital Diseases 4155
        urinary system disease 2075
          ureteral disease 142
            vesicoureteral reflux 39
              CAKUT 24
                CAKUT2 4
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.