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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 chrNW_004955404:14,700,808...14,927,944
Ensembl chrNW_004955404:14,700,808...14,928,617
JBrowse link
G Abhd13 abhydrolase domain containing 13 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chrNW_004955404:3,587,277...3,605,649
Ensembl chrNW_004955404:3,587,285...3,605,649
JBrowse link
G Ankrd10 ankyrin repeat domain 10 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chrNW_004955404:1,928,285...1,954,193
Ensembl chrNW_004955404:1,928,307...1,954,193
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 chrNW_004955404:4,962,000...4,980,226
Ensembl chrNW_004955404:4,962,000...4,980,226
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 chrNW_004955404:8,327,295...8,358,453 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 chrNW_004955404:2,008,980...2,027,672
Ensembl chrNW_004955404:1,996,400...2,027,563
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 chrNW_004955404:8,401,713...8,425,519 JBrowse link
G Cldn10 claudin 10 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chrNW_004955404:14,483,217...14,597,912
Ensembl chrNW_004955404:14,483,217...14,597,938
JBrowse link
G Clybl citramalyl-CoA lyase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chrNW_004955404:10,813,161...11,016,687
Ensembl chrNW_004955404:10,814,307...11,034,467
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 chrNW_004955404:2,196,193...2,327,324
Ensembl chrNW_004955404:2,260,029...2,326,074
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 chrNW_004955404:2,092,184...2,178,079
Ensembl chrNW_004955404:2,092,184...2,178,079
JBrowse link
G Dct dopachrome tautomerase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chrNW_004955404:15,359,402...15,395,556
Ensembl chrNW_004955404:15,359,402...15,395,535
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 chrNW_004955404:14,361,540...14,412,533
Ensembl chrNW_004955404:14,360,832...14,412,533
JBrowse link
G Dock9 dedicator of cytokinesis 9 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chrNW_004955404:11,542,304...11,760,975
Ensembl chrNW_004955404:11,542,325...11,760,975
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 chrNW_004955404:14,428,026...14,481,106
Ensembl chrNW_004955404:14,428,945...14,483,961
JBrowse link
G Efnb2 ephrin B2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chrNW_004955404:5,000,906...5,030,068
Ensembl chrNW_004955404:5,000,906...5,030,126
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 chrNW_004955404:8,294,506...8,321,505 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 chrNW_004955404:12,050,225...12,316,842
Ensembl chrNW_004955404:12,051,591...12,317,035
JBrowse link
G Fgf14 fibroblast growth factor 14 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chrNW_004955404:8,704,344...9,329,917
Ensembl chrNW_004955404:8,705,112...9,325,117
JBrowse link
G Ggact gamma-glutamylamine cyclotransferase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chrNW_004955404:10,280,013...10,316,531 JBrowse link
G Gpc6 glypican 6 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chrNW_004955404:15,429,811...16,504,973
Ensembl chrNW_004955404:15,433,962...16,504,351
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 chrNW_004955404:11,293,897...11,321,072
Ensembl chrNW_004955404:11,293,897...11,321,072
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 chrNW_004955404:15,250,532...15,275,381
Ensembl chrNW_004955404:15,250,532...15,275,392
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 chrNW_004955404:11,264,954...11,277,531
Ensembl chrNW_004955404:11,264,954...11,277,531
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 chrNW_004955404:13,461,906...14,129,089
Ensembl chrNW_004955404:13,468,128...14,128,707
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 chrNW_004955404:1,998,665...1,999,615
Ensembl chrNW_004955404:1,998,912...1,999,613
JBrowse link
G Ipo5 importin 5 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chrNW_004955404:12,416,755...12,480,281
Ensembl chrNW_004955404:12,416,755...12,459,452
JBrowse link
G Irs2 insulin receptor substrate 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chrNW_004955404:2,531,484...2,555,383
Ensembl chrNW_004955404:2,531,484...2,555,689
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 chrNW_004955404:9,331,407...9,545,711
Ensembl chrNW_004955404:9,332,169...9,546,245
JBrowse link
G Lig4 DNA ligase 4 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chrNW_004955404:3,606,077...3,615,193
Ensembl chrNW_004955404:3,606,077...3,615,193
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 chrNW_004955404:12,979,671...13,132,239
Ensembl chrNW_004955404:12,979,235...13,132,361
JBrowse link
G Mettl21c methyltransferase 21C, AARS1 lysine ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chrNW_004955404:8,447,359...8,460,853
Ensembl chrNW_004955404:8,447,359...8,460,847
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 chrNW_004955404:9,603,567...9,894,688
Ensembl chrNW_004955404:9,603,562...9,895,817
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 chrNW_004955404:3,860,933...4,443,068
Ensembl chrNW_004955404:3,861,460...4,441,184
JBrowse link
G Naxd NAD(P)HX dehydratase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chrNW_004955404:2,028,560...2,049,638
Ensembl chrNW_004955404:2,029,539...2,047,211
JBrowse link
G Oxgr1 oxoglutarate receptor 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chrNW_004955404:13,337,607...13,344,789
Ensembl chrNW_004955404:13,337,607...13,344,789
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 chrNW_004955404:10,317,640...10,719,148
Ensembl chrNW_004955404:10,317,640...10,661,496
JBrowse link
G Poglut2 protein O-glucosyltransferase 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chrNW_004955404:8,358,542...8,374,216
Ensembl chrNW_004955404:8,358,542...8,374,328
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 chrNW_004955404:2,087,580...2,088,545 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 chrNW_004955404:12,897,518...12,936,964
Ensembl chrNW_004955404:12,897,240...12,936,964
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 chrNW_004955404:8,122,119...8,137,236
Ensembl chrNW_004955404:8,122,119...8,137,236
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 chrNW_004955404:11,799,370...11,856,854
Ensembl chrNW_004955404:11,798,927...11,857,982
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 chrNW_004955404:15,181,866...15,184,317
Ensembl chrNW_004955404:15,181,880...15,182,753
JBrowse link
G Stk24 serine/threonine kinase 24 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chrNW_004955404:11,943,308...12,049,688
Ensembl chrNW_004955404:11,996,837...12,049,688
JBrowse link
G Tex30 testis expressed 30 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chrNW_004955404:8,390,635...8,394,761
Ensembl chrNW_004955404:8,390,625...8,396,625
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 chrNW_004955404:15,279,956...15,298,295
Ensembl chrNW_004955404:15,279,866...15,298,295
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 chrNW_004955404:11,071,716...11,128,758
Ensembl chrNW_004955404:11,069,843...11,129,056
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 chrNW_004955404:10,213,186...10,266,581
Ensembl chrNW_004955404:10,213,186...10,266,116
JBrowse link
G Tnfsf13b TNF superfamily member 13b ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chrNW_004955404:3,536,041...3,573,242
Ensembl chrNW_004955404:3,536,868...3,569,750
JBrowse link
G Tpp2 tripeptidyl peptidase 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chrNW_004955404:8,465,877...8,528,372
Ensembl chrNW_004955404:8,463,715...8,528,784
JBrowse link
G Ubac2 UBA domain containing 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chrNW_004955404:11,205,972...11,357,370
Ensembl chrNW_004955404:11,205,585...11,357,370
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 chrNW_004955404:14,165,686...14,354,207
Ensembl chrNW_004955404:14,165,816...14,356,293
JBrowse link
G Zic2 Zic family member 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chrNW_004955404:10,731,987...10,735,599 JBrowse link
G Zic5 Zic family member 5 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chrNW_004955404:10,745,551...10,752,006
Ensembl chrNW_004955404:10,745,620...10,751,872
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13407
    physical disorder 3763
      imperforate anus 90
        Anal Atresia, Hypospadias, and Penoscrotal Inversion 54
Path 2
Term Annotations click to browse term
  disease 13407
    disease of anatomical entity 13137
      gastrointestinal system disease 5457
        Gastrointestinal Diseases 4110
          intestinal disease 2536
            rectal disease 1684
              anus disease 120
                imperforate anus 90
                  Anal Atresia, Hypospadias, and Penoscrotal Inversion 54
paths to the root