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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:urethral obstruction
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Accession:DOID:12577 term browser browse the term
Definition:Partial or complete blockage in any part of the URETHRA that can lead to difficulty or inability to empty the URINARY BLADDER. It is characterized by an enlarged, often damaged, bladder with frequent urges to void.
Synonyms:exact_synonym: obstruction of urethra;   urethral obstructions
 primary_id: MESH:D014524
 xref: NCI:C79804
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
urethral obstruction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO RGD PMID:12050560 RGD:7257713 NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758 		JBrowse link
G Gja1 gap junction protein, alpha 1 IEP mRNA,protein:increased expression:smooth muscle cell: RGD PMID:11900482 RGD:11568666 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
G Gjb2 gap junction protein, beta 2 IEP mRNA,protein:increased expression:urothelium: RGD PMID:11900482 RGD:11568666 NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177 		JBrowse link
G Mapk1 mitogen activated protein kinase 1 IEP RGD PMID:23698112 RGD:7244171 NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616 		JBrowse link
G Nos1 nitric oxide synthase 1 IEP protein:increased expression:urinary bladder RGD PMID:23766828 RGD:7257604 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 treatment IEP RGD PMID:24066596 RGD:7394856 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
bladder neck obstruction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adra1a adrenoceptor alpha 1A IMP RGD PMID:20886573 RGD:5688368 NCBI chr15:40,830,125...40,935,902
Ensembl chr15:40,832,534...40,927,500 		JBrowse link
G Col1a1 collagen type I alpha 1 chain treatment IEP RGD PMID:23313213 RGD:7257549 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Col3a1 collagen type III alpha 1 chain treatment IEP RGD PMID:23313213 RGD:7257549 NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547 		JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO RGD PMID:21356374 RGD:7257709 NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758 		JBrowse link
G Eln elastin treatment IEP RGD PMID:23313213 RGD:7257549 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha IEP protein:increased expression:urinary bladder (rat) RGD PMID:12118092 RGD:9068887 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A IEP mRNA:increased expression:urinary bladder RGD PMID:23344575 RGD:7257660 NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928 		JBrowse link
G Mmp7 matrix metallopeptidase 7 treatment IEP RGD PMID:23313213 RGD:7257549 NCBI chr 8:4,848,186...4,855,908
Ensembl chr 8:4,848,186...4,855,902 		JBrowse link
G Ngf nerve growth factor treatment IDA RGD PMID:22795377 RGD:7242774 NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452 		JBrowse link
G Nos3 nitric oxide synthase 3 IEP mRNA:decreased expression:urinary bladder RGD PMID:21256554 RGD:4891960 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Optn optineurin IEP protein:increased expression:urinary bladder: RGD PMID:16361812 RGD:7775024 NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15311063 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Sod2 superoxide dismutase 2 IEP RGD PMID:21060756 RGD:7175518 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
Congenital Lower Urinary Tract Obstruction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bnc2 basonuclin zinc finger protein 2 ISO ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31051115 NCBI chr 5:98,679,071...99,016,044
Ensembl chr 5:98,687,410...99,079,426 		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 chr18:46,842,409...46,855,017 		JBrowse link
G Prdm6 PR/SET domain 6 ISO ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital ClinVar PMID:31690835 NCBI chr18:46,904,115...47,008,482
Ensembl chr18:46,904,127...47,007,823 		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 chr18:46,207,152...46,343,929 		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 chr18:46,602,284...46,643,865 		JBrowse link
G Snx24 sorting nexin 24 ISO ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital ClinVar PMID:31690835 NCBI chr18:46,670,987...46,826,070
Ensembl chr18:46,671,443...46,826,068 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      Urogenital Diseases 5233
        urinary system disease 2830
          urethral disease 58
            urethral obstruction 24
              Cervical Ribs, Sprengel Anomaly, Anal Atresia, Urethral Obstruction 0
              Congenital Lower Urinary Tract Obstruction 6
              Kashani Strom Utley Syndrome 0
              Selig Benacerraf Greene Syndrome 0
              Urethral Obstruction Sequence 0
              bladder neck obstruction 13
              urethral stricture + 0
paths to the root