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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


show annotations for term's descendants           Sort by:
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 (PEL blood group) ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:76,193,929...76,476,119
Ensembl chr13:95,349,915...95,582,058 		JBrowse link
G ABHD13 abhydrolase domain containing 13 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:89,347,452...89,363,329
Ensembl chr13:108,496,283...108,497,296 		JBrowse link
G ANKRD10 ankyrin repeat domain 10 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:92,017,092...92,053,485
Ensembl chr13:111,130,933...111,177,018 		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 chr13:87,683,306...87,708,108
Ensembl chr13:106,823,229...106,847,933 		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 chr13:83,959,365...84,002,223
Ensembl chr13:103,096,344...103,174,182 		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 chr13:91,776,774...91,843,262
Ensembl chr13:110,892,948...110,957,000 		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 chr13:83,891,331...83,921,047
Ensembl chr13:103,027,230...103,056,282 		JBrowse link
G CLDN10 claudin 10 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:76,728,572...76,755,685
Ensembl chr13:95,763,980...95,909,161 		JBrowse link
G CLYBL citramalyl-CoA lyase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:80,774,572...81,066,375
Ensembl chr13:99,912,773...100,195,417 		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 chr13:91,282,617...91,440,187
Ensembl chr13:110,407,009...110,562,529 		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 chr13:91,440,314...91,650,138
Ensembl chr13:110,563,119...110,767,530 		JBrowse link
G DAOA D-amino acid oxidase activator ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:86,607,991...86,631,776 JBrowse link
G DCT dopachrome tautomerase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:75,590,366...75,730,956
Ensembl chr13:94,773,794...94,816,083 		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 chr13:76,853,053...76,963,530
Ensembl chr13:96,033,605...96,114,165 		JBrowse link
G DOCK9 dedicator of cytokinesis 9 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:79,964,350...80,256,416
Ensembl chr13:99,106,971...99,325,589 		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 chr13:76,757,062...76,820,627
Ensembl chr13:95,913,144...95,972,799 		JBrowse link
G EFNB2 ephrin B2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:87,629,831...87,675,652
Ensembl chr13:106,770,296...106,815,548 		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 chr13:84,005,950...84,036,710
Ensembl chr13:103,096,344...103,174,182 		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 chr13:79,300,995...79,615,649
Ensembl chr13:98,522,235...98,761,085 		JBrowse link
G FGF14 fibroblast growth factor 14 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:82,869,491...83,563,099
Ensembl chr13:102,016,568...102,696,330 		JBrowse link
G GGACT gamma-glutamylamine cyclotransferase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:81,678,715...81,757,024
Ensembl chr13:100,839,483...100,839,944 		JBrowse link
G GPC6 glypican 6 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:74,408,999...75,588,065
Ensembl chr13:93,874,849...94,739,894 		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 chr13:80,423,534...80,427,604
Ensembl chr13:99,562,589...99,563,584 		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 chr13:75,774,879...75,808,210
Ensembl chr13:94,930,349...94,957,032 		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 chr13:80,461,908...80,475,046
Ensembl chr13:99,601,220...99,602,305 		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 chr13:77,256,399...77,998,022
Ensembl chr13:96,414,409...97,148,398 		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 chr13:91,849,153...91,856,943
Ensembl chr13:110,963,405...110,970,691 		JBrowse link
G IPO5 importin 5 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:79,115,320...79,185,598
Ensembl chr13:98,294,766...98,336,700 		JBrowse link
G IRS2 insulin receptor substrate 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:90,886,095...90,917,724 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 chr13:82,609,493...82,877,474
Ensembl chr13:101,747,760...102,014,605 		JBrowse link
G LIG4 DNA ligase 4 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:89,336,434...89,347,418
Ensembl chr13:108,475,820...108,478,555 		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 chr13:78,301,339...78,555,615
Ensembl chr13:97,591,686...97,711,843 		JBrowse link
G METTL21C methyltransferase 21C, AARS1 lysine ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:83,845,572...83,855,215
Ensembl chr13:102,981,536...102,990,336 		JBrowse link
G MYO16 myosin XVI ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:89,754,451...90,338,658
Ensembl chr13:108,922,993...109,473,752 		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 chr13:82,215,094...82,573,501
Ensembl chr13:101,354,054...101,693,223 		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 chr13:88,136,013...88,995,995
Ensembl chr13:107,443,343...108,133,895 		JBrowse link
G NAXD NAD(P)HX dehydratase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:91,750,962...91,775,364
Ensembl chr13:110,867,144...110,891,404 		JBrowse link
G OXGR1 oxoglutarate receptor 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:78,145,794...78,154,555 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 chr13:81,259,313...81,699,117
Ensembl chr13:100,390,959...100,837,772 		JBrowse link
G POGLUT2 protein O-glucosyltransferase 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:83,944,645...83,959,313
Ensembl chr13:103,081,650...103,096,378 		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 chr13:91,660,142...91,698,215
Ensembl chr13:110,778,119...110,815,408 		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 chr13:78,595,330...78,629,012
Ensembl chr13:97,751,799...97,785,194 		JBrowse link
G RNF113B ring finger protein 113B ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:79,334,230...79,335,713
Ensembl chr13:98,484,810...98,486,285 		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 chr13:84,200,209...84,224,164
Ensembl chr13:103,336,073...103,359,359 		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 chr13:79,855,805...79,902,215
Ensembl chr13:98,998,894...99,065,008 		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 chr13:75,872,786...75,886,125 JBrowse link
G STK24 serine/threonine kinase 24 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:79,614,662...79,744,772
Ensembl chr13:98,764,900...98,837,807 		JBrowse link
G TEX30 testis expressed 30 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:83,927,705...83,936,447
Ensembl chr13:103,063,419...103,071,173 		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 chr13:75,747,686...75,770,010
Ensembl chr13:94,903,511...94,925,637 		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 chr13:80,669,277...80,731,340
Ensembl chr13:99,807,555...99,869,456 		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 chr13:81,771,668...81,841,926
Ensembl chr13:100,910,277...100,976,164 		JBrowse link
G TNFSF13B TNF superfamily member 13b ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:89,399,044...89,438,837
Ensembl chr13:108,536,617...108,574,296 		JBrowse link
G TPP2 tripeptidyl peptidase 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:83,756,757...83,838,997
Ensembl chr13:102,892,037...102,974,974 		JBrowse link
G UBAC2 UBA domain containing 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:80,370,475...80,554,055
Ensembl chr13:99,509,508...99,692,537 		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 chr13:76,970,139...77,219,241
Ensembl chr13:96,124,714...96,377,116 		JBrowse link
G ZIC2 Zic family member 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:81,151,669...81,156,648 JBrowse link
G ZIC5 Zic family member 5 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:81,132,841...81,149,539 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15805
    physical disorder 5149
      imperforate anus 124
        Anal Atresia, Hypospadias, and Penoscrotal Inversion 57
Path 2
Term Annotations click to browse term
  disease 15805
    disease of anatomical entity 15483
      gastrointestinal system disease 6596
        intestinal disease 2946
          rectal disease 1942
            anus disease 164
              imperforate anus 124
                Anal Atresia, Hypospadias, and Penoscrotal Inversion 57
paths to the root