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Anal Atresia, Hypospadias, and Penoscrotal Inversion - Ontology Report - Rat Genome Database

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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: MIM:602553

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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, sub-family C member 4 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:118,720,104...118,945,475
Ensembl chr14:118,720,104...118,943,631 		JBrowse link
G Abhd13 abhydrolase domain containing 13 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 8:10,027,717...10,042,155
Ensembl chr 8:10,027,707...10,042,155 		JBrowse link
G Ankrd10 ankyrin repeat domain 10 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 8:11,661,581...11,694,617
Ensembl chr 8:11,661,583...11,685,757 		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 chr 8:8,716,307...8,741,818
Ensembl chr 8:8,715,075...8,740,521 		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 chr 1:44,158,032...44,183,931
Ensembl chr 1:44,158,117...44,183,930 		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 chr 8:11,564,017...11,600,781
Ensembl chr 8:11,563,977...11,600,783 		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 chr 1:44,095,031...44,118,906
Ensembl chr 1:44,095,032...44,118,906 		JBrowse link
G Cldn10 claudin 10 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:119,025,283...119,111,937
Ensembl chr14:119,025,320...119,112,901 		JBrowse link
G Clybl citrate lyase beta like ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:122,408,289...122,639,646
Ensembl chr14:122,419,116...122,639,646 		JBrowse link
G Col4a1 collagen, type IV, alpha 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 8:11,248,423...11,362,889
Ensembl chr 8:11,248,423...11,362,826 		JBrowse link
G Col4a2 collagen, type IV, alpha 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 8:11,362,878...11,499,287
Ensembl chr 8:11,362,805...11,499,287 		JBrowse link
G Dct dopachrome tautomerase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:118,250,202...118,289,658
Ensembl chr14:118,250,202...118,289,656 		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 chr14:119,175,371...119,219,114
Ensembl chr14:119,175,388...119,219,109 		JBrowse link
G Dock9 dedicator of cytokinesis 9 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:121,772,026...122,038,465
Ensembl chr14:121,779,458...122,035,249 		JBrowse link
G Dzip1 DAZ interacting protein 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:119,112,927...119,162,947
Ensembl chr14:119,112,932...119,162,872 		JBrowse link
G Efnb2 ephrin B2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 8:8,667,235...8,711,242
Ensembl chr 8:8,667,434...8,711,242 		JBrowse link
G Ercc5 excision repair cross-complementing rodent repair deficiency, complementation group 5 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 1:44,184,084...44,220,399
Ensembl chr 1:44,186,904...44,220,420 		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 chr14:121,272,563...121,521,156
Ensembl chr14:121,272,612...121,521,156 		JBrowse link
G Fgf14 fibroblast growth factor 14 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:124,211,257...124,915,098
Ensembl chr14:124,215,319...124,914,539 		JBrowse link
G Ggact gamma-glutamylamine cyclotransferase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:123,128,272...123,151,173
Ensembl chr14:123,053,635...123,151,169 		JBrowse link
G Gpc6 glypican 6 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:117,162,332...118,216,941
Ensembl chr14:117,162,727...118,213,956 		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 chr14:122,148,846...122,153,300
Ensembl chr14:122,148,665...122,153,193 		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 chr14:118,374,513...118,401,644
Ensembl chr14:118,374,570...118,400,673 		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 chr14:122,189,743...122,202,605
Ensembl chr14:122,189,963...122,202,607 		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 chr14:119,374,902...120,226,864
Ensembl chr14:119,375,753...120,107,227 		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 chr 8:11,605,762...11,613,251
Ensembl chr 8:11,605,571...11,613,251 		JBrowse link
G Ipo5 importin 5 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:121,134,271...121,185,451
Ensembl chr14:121,148,636...121,185,411 		JBrowse link
G Irs2 insulin receptor substrate 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 8:11,034,681...11,058,929
Ensembl chr 8:11,034,681...11,058,458 		JBrowse link
G Itgbl1 integrin, beta-like 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:123,897,331...124,215,173
Ensembl chr14:123,897,383...124,213,030 		JBrowse link
G Lig4 ligase IV, DNA, ATP-dependent ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 8:10,020,020...10,027,680
Ensembl chr 8:10,019,049...10,027,686 		JBrowse link
G Mbnl2 muscleblind like splicing factor 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:120,513,077...120,669,110
Ensembl chr14:120,513,081...120,669,109 		JBrowse link
G Mettl21c methyltransferase 21C, AARS1 lysine ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 1:44,048,559...44,081,745
Ensembl chr 1:44,048,568...44,059,194 		JBrowse link
G Myo16 myosin XVI ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 8:10,203,911...10,684,742
Ensembl chr 8:10,203,911...10,684,742 		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 chr14:123,514,046...123,864,846
Ensembl chr14:123,514,046...123,864,556 		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 chr 8:9,256,006...9,823,329
Ensembl chr 8:9,255,902...9,821,161 		JBrowse link
G Naxd NAD(P)HX dehydratase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 8:11,547,506...11,563,287
Ensembl chr 8:11,547,506...11,564,960 		JBrowse link
G Oxgr1 oxoglutarate (alpha-ketoglutarate) receptor 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:120,256,997...120,279,847
Ensembl chr14:120,256,997...120,279,847 		JBrowse link
G Pcca propionyl-Coenzyme A carboxylase, alpha polypeptide ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:122,721,822...123,127,372
Ensembl chr14:122,771,736...123,128,512 		JBrowse link
G Poglut2 protein O-glucosyltransferase 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 1:44,143,060...44,158,844
Ensembl chr 1:44,145,706...44,157,968 		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 chr 8:11,503,390...11,528,640
Ensembl chr 8:11,503,518...11,528,710 		JBrowse link
G Rap2a RAS related protein 2a ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:120,715,873...120,744,606
Ensembl chr14:120,715,856...120,744,606 		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 chr 8:5,133,219...5,155,287
Ensembl chr 8:5,133,219...5,155,351 		JBrowse link
G Slc15a1 solute carrier family 15 (oligopeptide transporter), member 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:121,697,033...121,742,666
Ensembl chr14:121,697,033...121,742,664 		JBrowse link
G Sox21 SRY (sex determining region Y)-box 21 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:118,470,645...118,474,442
Ensembl chr14:118,470,644...118,474,442 		JBrowse link
G Stk24 serine/threonine kinase 24 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:121,521,599...121,618,269
Ensembl chr14:121,523,755...121,617,423 		JBrowse link
G Tex30 testis expressed 30 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 1:44,125,773...44,141,650
Ensembl chr 1:44,125,773...44,141,601 		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 chr14:118,349,323...118,370,177
Ensembl chr14:118,349,323...118,370,167 		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 chr14:122,342,290...122,397,015
Ensembl chr14:122,344,450...122,397,016 		JBrowse link
G Tmtc4 transmembrane and tetratricopeptide repeat containing 4 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:123,156,383...123,220,697
Ensembl chr14:123,156,383...123,221,447 		JBrowse link
G Tnfsf13b tumor necrosis factor (ligand) superfamily, member 13b ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 8:10,056,637...10,086,000
Ensembl chr 8:10,056,467...10,089,072 		JBrowse link
G Tpp2 tripeptidyl peptidase II ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 1:43,973,130...44,042,160
Ensembl chr 1:43,972,807...44,042,160 		JBrowse link
G Ubac2 ubiquitin associated domain containing 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:122,115,970...122,258,447
Ensembl chr14:122,116,032...122,258,446 		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 chr14:119,219,177...119,337,208
Ensembl chr14:119,222,451...119,336,842 		JBrowse link
G Zic2 zinc finger protein of the cerebellum 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:122,712,796...122,717,740
Ensembl chr14:122,712,847...122,717,264 		JBrowse link
G Zic5 zinc finger protein of the cerebellum 5 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr14:122,696,572...122,703,127
Ensembl chr14:122,694,207...122,703,089 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16273
    physical disorder 5251
      imperforate anus 122
        Anal Atresia, Hypospadias, and Penoscrotal Inversion 55
Path 2
Term Annotations click to browse term
  disease 16273
    disease of anatomical entity 15865
      gastrointestinal system disease 6894
        intestinal disease 3067
          rectal disease 2058
            anus disease 168
              imperforate anus 122
                Anal Atresia, Hypospadias, and Penoscrotal Inversion 55
paths to the root