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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 Lower Urinary Tract Obstruction
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Accession:DOID:9007386 term browser browse the term
Definition:A disease characterized by anatomic blockage of bladder outflow due to urethral stenosis.
Synonyms:exact_synonym: LUTO
 primary_id: OMIM:618612
For additional species annotation, visit the Alliance of Genome Resources.


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Congenital Lower Urinary Tract Obstruction term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bnc2 basonuclin 2 ISO ClinVar Annotator: match by term: LOWER URINARY TRACT OBSTRUCTION, CONGENITAL OMIM
ClinVar
PMID:31051115 NCBI chr 5:102,407,508...102,807,389
Ensembl chr 5:102,415,847...102,786,331
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Urogenital Diseases 4146
        urinary system disease 2069
          urinary tract obstruction 144
            urethral obstruction 19
              Congenital Lower Urinary Tract Obstruction 1
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.