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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: BNC2-RELATED CONDITION;   LUTO
 primary_id: MIM:618612


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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 zinc finger protein 2 ISO ClinVar Annotator: match by term: BNC2-related condition | ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31051115 NCBI chr 5:98,679,071...99,016,044
Ensembl chr 5:103,724,934...104,125,428 		JBrowse link
G Ppic peptidylprolyl isomerase C ISO ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital ClinVar PMID:31690835 NCBI chr18:46,842,410...46,855,016
Ensembl chr18:49,040,692...49,053,466 		JBrowse link
G Prdm6 PR/SET domain 6 ISO ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital ClinVar PMID:31690835 NCBI chr18:49,102,290...49,206,763
Ensembl chr18:49,102,641...49,206,761 		JBrowse link
G Sncaip synuclein, alpha interacting protein ISO ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital ClinVar PMID:31690835 NCBI chr18:46,205,846...46,343,932
Ensembl chr18:48,404,531...48,574,002 		JBrowse link
G Snx2 sorting nexin 2 ISO ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital ClinVar PMID:31690835 NCBI chr18:46,602,223...46,643,870
Ensembl chr18:48,800,583...48,842,474 		JBrowse link
G Snx24 sorting nexin 24 ISO ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital ClinVar PMID:31690835 NCBI chr18:48,869,804...49,024,352
Ensembl chr18:48,869,882...49,024,350 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      Urogenital Diseases 5238
        urinary system disease 2590
          urinary tract obstruction 145
            urethral obstruction 24
              Congenital Lower Urinary Tract Obstruction 6
paths to the root