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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:Urinary Tract Abnormalities
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Accession:DOID:9008657 term browser browse the term
Definition:Malformations of the urinary tract (renal tubules and renal pelvis of the kidney, the ureters, the bladder, and the urethra) during development in utero.
Synonyms:exact_synonym: Anomalies of the Urinary Tract
 primary_id: RDO:9000033


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NFIA-related disorder term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfia nuclear factor I/A ISO ClinVar Annotator: match by term: Brain malformations with or without urinary tract defects | ClinVar Annotator: match by term: Chromosome 1p32-p31 deletion syndrome | ClinVar Annotator: match by term: NFIA-related disorder OMIM
ClinVar		 PMID:10518556 PMID:17530927 PMID:19058033 PMID:19763616 PMID:20673863 More... NCBI chr 5:112,436,655...112,781,878
Ensembl chr 5:112,436,644...112,775,885 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      Urogenital Diseases 5390
        Urogenital Abnormalities 461
          Urinary Tract Abnormalities 1
            NFIA-related disorder 1
Path 2
Term Annotations click to browse term
  disease 19137
    Developmental Disease 14663
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13711
        Congenital Abnormalities 7885
          Urogenital Abnormalities 461
            Urinary Tract Abnormalities 1
              NFIA-related disorder 1
paths to the root