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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 disease
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Accession:DOID:732 term browser browse the term
Definition:Pathological processes involving the URETHRA.
Synonyms:exact_synonym: urethra disease;   urethral diseases
 primary_id: MESH:D014522;   RDO:0002292
 xref: ICD10CM:N36.9;   NCI:C26903
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
bladder exstrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lztr1 leucine-zipper-like transcription regulator 1 ISO ClinVar Annotator: match by term: Bladder exstrophy ClinVar NCBI chr11:87,381,638...87,397,849
Ensembl chr11:87,381,899...87,397,498
JBrowse link
G Tp63 tumor protein p63 ISS OMIM:600057 MouseDO NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
JBrowse link
bladder exstrophy-epispadias-cloacal exstrophy complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fzd5 frizzled class receptor 5 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chr 9:71,443,784...71,445,541
Ensembl chr 9:71,443,588...71,445,739
JBrowse link
G Isl1 ISL LIM homeobox 1 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chr 2:48,488,911...48,501,217
Ensembl chr 2:48,487,736...48,501,436
JBrowse link
G Lrp10 LDL receptor related protein 10 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chr15:33,107,706...33,114,831
Ensembl chr15:33,108,671...33,114,829
JBrowse link
G Tp63 tumor protein p63 ISO DNA:deletion, insertion, SNPs: :multiple RGD PMID:23284286 RGD:11568641 NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: BLADDER EXSTROPHY AND EPISPADIAS COMPLEX ClinVar PMID:22581971, PMID:23401279, PMID:24398796, PMID:28492532, PMID:30426266 NCBI chr 9:82,053,581...82,066,047
Ensembl chr 9:82,053,581...82,066,047
JBrowse link
G Wnt11 Wnt family member 11 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chr 1:163,794,136...163,813,756
Ensembl chr 1:163,797,660...163,813,756
JBrowse link
G Wnt3 Wnt family member 3 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chr10:91,830,709...91,874,907
Ensembl chr10:91,830,654...91,874,793
JBrowse link
G Wnt6 Wnt family member 6 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chr 9:82,033,543...82,047,172
Ensembl chr 9:82,033,543...82,047,166
JBrowse link
G Wnt7a Wnt family member 7A ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chr 4:122,994,425...123,040,609
Ensembl chr 4:122,994,425...123,040,609
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 chr15:43,296,997...43,398,314
Ensembl chr15:43,298,794...43,392,451
JBrowse link
G Col1a1 collagen type I alpha 1 chain treatment IEP RGD PMID:23313213 RGD:7257549 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col3a1 collagen type III alpha 1 chain treatment IEP RGD PMID:23313213 RGD:7257549 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO RGD PMID:21356374 RGD:7257709 NCBI chr 8:58,744,849...58,772,408
Ensembl chr 8:58,744,849...58,772,408
JBrowse link
G Eln elastin treatment IEP RGD PMID:23313213 RGD:7257549 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha IEP protein:increased expression:urinary bladder (rat) RGD PMID:12118092 RGD:9068887 NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A IEP mRNA:increased expression:urinary bladder RGD PMID:23344575 RGD:7257660 NCBI chr15:56,666,152...56,732,469
Ensembl chr15:56,666,012...56,735,382
JBrowse link
G Mmp7 matrix metallopeptidase 7 treatment IEP RGD PMID:23313213 RGD:7257549 NCBI chr 8:5,893,253...5,900,965
Ensembl chr 8:5,893,249...5,901,049
JBrowse link
G Ngf nerve growth factor treatment IDA RGD PMID:22795377 RGD:7242774 NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
JBrowse link
G Nos3 nitric oxide synthase 3 IEP mRNA:decreased expression:urinary bladder RGD PMID:21256554 RGD:4891960 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Optn optineurin IEP protein:increased expression:urinary bladder: RGD PMID:16361812 RGD:7775024 NCBI chr17:77,167,700...77,218,374
Ensembl chr17:77,167,740...77,218,389
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15311063 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Sod2 superoxide dismutase 2 IEP RGD PMID:21060756 RGD:7175518 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
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 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
JBrowse link
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 8:58,744,849...58,772,408
Ensembl chr 8:58,744,849...58,772,408
JBrowse link
G Gja1 gap junction protein, alpha 1 IEP mRNA,protein:increased expression:smooth muscle cell: RGD PMID:11900482 RGD:11568666 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
G Gjb2 gap junction protein, beta 2 IEP mRNA,protein:increased expression:urothelium: RGD PMID:11900482 RGD:11568666 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
JBrowse link
G Mapk1 mitogen activated protein kinase 1 IEP RGD PMID:23698112 RGD:7244171 NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
JBrowse link
G Nos1 nitric oxide synthase 1 IEP protein:increased expression:urinary bladder RGD PMID:23766828 RGD:7257604 NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
JBrowse link
G Tgfb1 transforming growth factor, beta 1 treatment IEP RGD PMID:24066596 RGD:7394856 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      Urogenital Diseases 4145
        urinary system disease 2069
          urethral disease 29
            Epispadias + 10
            Penoscrotal Transposition 0
            Trichomonas vaginalis trichomoniasis 0
            Urethral Neoplasms + 0
            fibroepithelial polyp of urethra 0
            gonorrhea + 0
            prolapse of urethra 0
            urethral calculus 0
            urethral diverticulum 0
            urethral false passage 0
            urethral gland abscess 0
            urethral intrinsic sphincter deficiency 0
            urethral obstruction + 19
            urethral syndrome 0
            urethritis 0
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.