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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:Anal Atresia, Hypospadias, and Penoscrotal Inversion
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Accession:DOID:9002979 term browser browse the term
Synonyms:primary_id: MESH:C566526
 alt_id: RDO:0014858
For additional species annotation, visit the Alliance of Genome Resources.



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Anal Atresia, Hypospadias, and Penoscrotal Inversion term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC4 ATP binding cassette subfamily C member 4 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:64,089,149...64,309,831 JBrowse link
G ABHD13 abhydrolase domain containing 13 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:75,547,748...75,569,843
Ensembl chr11:75,547,747...75,570,263
JBrowse link
G ANKRD10 ankyrin repeat domain 10 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:77,323,355...77,356,049
Ensembl chr11:77,323,357...77,356,113
JBrowse link
G ARGLU1 arginine and glutamate rich 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:74,241,089...74,267,416
Ensembl chr11:74,239,416...74,267,393
JBrowse link
G BIVM basic, immunoglobulin-like variable motif containing ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:71,110,463...71,138,861 JBrowse link
G CARS2 cysteinyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:77,231,865...77,269,936
Ensembl chr11:77,229,970...77,265,272
JBrowse link
G CCDC168 coiled-coil domain containing 168 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:71,047,611...71,069,998 JBrowse link
G CLDN10 claudin 10 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:65,027,706...65,145,002
Ensembl chr11:65,027,732...65,147,242
JBrowse link
G CLYBL citramalyl-CoA lyase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:68,507,828...68,768,322
Ensembl chr11:68,507,877...68,767,546
JBrowse link
G COL4A1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:76,858,332...76,997,409 JBrowse link
G COL4A2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:76,996,885...77,161,617
Ensembl chr11:76,997,516...77,161,615
JBrowse link
G DCT dopachrome tautomerase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:63,584,865...63,647,486
Ensembl chr11:63,584,866...63,678,314
JBrowse link
G DNAJC3 DnaJ heat shock protein family (Hsp40) member C3 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:65,230,145...65,299,084
Ensembl chr11:65,230,162...65,303,844
JBrowse link
G DOCK9 dedicator of cytokinesis 9 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:67,764,009...68,052,352
Ensembl chr11:67,764,009...68,130,255
JBrowse link
G DZIP1 DAZ interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:65,147,003...65,204,294 JBrowse link
G EFNB2 ephrin B2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:74,188,337...74,232,768
Ensembl chr11:74,186,640...74,233,354
JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:71,141,823...71,168,326
Ensembl chr11:71,141,798...71,168,321
JBrowse link
G FARP1 FERM, ARH/RhoGEF and pleckstrin domain protein 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:67,144,622...67,457,547
Ensembl chr11:67,144,103...67,457,548
JBrowse link
G FGF14 fibroblast growth factor 14 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:70,251,374...70,861,941
Ensembl chr11:70,251,375...70,861,064
JBrowse link
G GGACT gamma-glutamylamine cyclotransferase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:69,287,685...69,349,540 JBrowse link
G GPC6 glypican 6 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:62,436,143...63,560,908
Ensembl chr11:62,438,652...63,560,903
JBrowse link
G GPR18 G protein-coupled receptor 18 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:68,187,402...68,191,622
Ensembl chr11:68,187,327...68,191,269
JBrowse link
G GPR180 G protein-coupled receptor 180 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:63,720,048...63,764,720
Ensembl chr11:63,720,058...63,769,345
JBrowse link
G GPR183 G protein-coupled receptor 183 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:68,231,851...68,248,627
Ensembl chr11:68,231,851...68,245,751
JBrowse link
G HS6ST3 heparan sulfate 6-O-sulfotransferase 3 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:65,516,180...66,193,410
Ensembl chr11:65,516,296...66,186,846
JBrowse link
G ING1 inhibitor of growth family member 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:77,270,272...77,278,346
Ensembl chr11:77,270,320...77,277,455
JBrowse link
G IPO5 importin 5 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:67,019,299...67,059,375
Ensembl chr11:67,004,076...67,060,552
JBrowse link
G IRS2 insulin receptor substrate 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:76,626,158...76,654,639
Ensembl chr11:76,626,179...76,653,881
JBrowse link
G ITGBL1 integrin subunit beta like 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:70,042,051...70,246,974
Ensembl chr11:70,042,232...70,248,362
JBrowse link
G LIG4 DNA ligase 4 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:75,537,027...75,547,711
Ensembl chr11:75,537,032...75,547,691
JBrowse link
G MBNL2 muscleblind like splicing regulator 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:66,481,923...66,641,653
Ensembl chr11:66,385,802...66,641,653
JBrowse link
G METTL21C methyltransferase 21C, AARS1 lysine ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:71,008,854...71,021,640
Ensembl chr11:71,010,850...71,020,730
JBrowse link
G MYO16 myosin XVI ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:75,739,783...76,271,958 JBrowse link
G NALCN sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:69,710,355...70,023,020
Ensembl chr11:69,710,364...70,022,727
JBrowse link
G NALF1 NALCN channel auxiliary factor 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:74,742,319...75,344,699
Ensembl chr11:74,743,587...75,344,030
JBrowse link
G NAXD NAD(P)HX dehydratase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:77,210,164...77,230,687
Ensembl chr11:77,210,228...77,230,681
JBrowse link
G OXGR1 oxoglutarate receptor 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:66,289,131...66,295,826 JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:68,920,923...69,286,431
Ensembl chr11:68,920,929...69,301,533
JBrowse link
G POGLUT2 protein O-glucosyltransferase 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:71,095,116...71,110,490
Ensembl chr11:71,094,216...71,110,396
JBrowse link
G RAB20 RAB20, member RAS oncogene family ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:77,167,052...77,188,893
Ensembl chr11:77,167,055...77,188,902
JBrowse link
G RAP2A RAP2A, member of RAS oncogene family ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:66,679,162...66,718,565
Ensembl chr11:66,679,252...66,720,063
JBrowse link
G SLC10A2 solute carrier family 10 member 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:71,328,801...71,348,779
Ensembl chr11:71,327,016...71,348,779
JBrowse link
G SLC15A1 solute carrier family 15 member 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:67,652,808...67,690,457
Ensembl chr11:67,652,193...67,710,933
JBrowse link
G SOX21 SRY-box transcription factor 21 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:63,822,110...63,826,498
Ensembl chr11:63,825,637...63,826,467
JBrowse link
G STK24 serine/threonine kinase 24 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:67,458,350...67,565,642
Ensembl chr11:67,458,351...67,634,349
JBrowse link
G TEX30 testis expressed 30 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:71,077,717...71,085,063
Ensembl chr11:71,077,723...71,084,646
JBrowse link
G TGDS TDP-glucose 4,6-dehydratase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:63,695,612...63,716,614
Ensembl chr11:63,695,628...63,716,732
JBrowse link
G TM9SF2 transmembrane 9 superfamily member 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:68,407,834...68,469,956
Ensembl chr11:68,404,975...68,469,954
JBrowse link
G TMTC4 transmembrane O-mannosyltransferase targeting cadherins 4 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:69,361,219...69,442,769
Ensembl chr11:69,361,227...69,443,039
JBrowse link
G TNFSF13B TNF superfamily member 13b ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:75,599,296...75,633,044
Ensembl chr11:75,599,598...75,633,041
JBrowse link
G TPP2 tripeptidyl peptidase 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:70,943,142...71,009,381
Ensembl chr11:70,943,139...71,009,633
JBrowse link
G UBAC2 UBA domain containing 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:68,144,835...68,319,771
Ensembl chr11:68,145,101...68,319,939
JBrowse link
G UGGT2 UDP-glucose glycoprotein glucosyltransferase 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:65,307,208...65,476,791
Ensembl chr11:65,307,150...65,477,490
JBrowse link
G ZIC2 Zic family member 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:68,840,802...68,845,441
Ensembl chr11:68,840,830...68,846,470
JBrowse link
G ZIC5 Zic family member 5 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr11:68,821,733...68,830,472
Ensembl chr11:68,821,735...68,830,341
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14378
    physical disorder 3920
      imperforate anus 92
        Anal Atresia, Hypospadias, and Penoscrotal Inversion 55
Path 2
Term Annotations click to browse term
  disease 14378
    disease of anatomical entity 14096
      gastrointestinal system disease 5878
        Gastrointestinal Diseases 4411
          intestinal disease 2706
            rectal disease 1781
              anus disease 124
                imperforate anus 92
                  Anal Atresia, Hypospadias, and Penoscrotal Inversion 55
paths to the root