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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 IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:95,019,835...95,301,451
Ensembl chr13:95,019,835...95,301,475
JBrowse link
G ABHD13 abhydrolase domain containing 13 IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:108,218,392...108,234,243
Ensembl chr13:108,218,392...108,234,243
JBrowse link
G ANKRD10 ankyrin repeat domain 10 IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:110,878,540...110,915,069
Ensembl chr13:110,878,540...110,915,069
JBrowse link
G ARGLU1 arginine and glutamate rich 1 IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:106,541,673...106,568,137
Ensembl chr13:106,541,673...106,568,137
JBrowse link
G BIVM basic, immunoglobulin-like variable motif containing IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:102,799,119...102,841,533
Ensembl chr13:102,799,119...102,841,533
JBrowse link
G BIVM-ERCC5 BIVM-ERCC5 readthrough IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:102,807,146...102,875,995
Ensembl chr13:102,799,110...102,875,994
JBrowse link
G CARS2 cysteinyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:110,641,410...110,713,522
Ensembl chr13:110,641,412...110,713,603
JBrowse link
G CCDC168 coiled-coil domain containing 168 IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:102,729,367...102,759,072
Ensembl chr13:102,729,367...102,759,072
JBrowse link
G CLDN10 claudin 10 IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:95,433,755...95,579,759
Ensembl chr13:95,433,604...95,579,759
JBrowse link
G CLYBL citramalyl-CoA lyase IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:99,606,690...99,909,444
Ensembl chr13:99,606,669...99,909,459
JBrowse link
G COL4A1 collagen type IV alpha 1 chain IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,157
JBrowse link
G COL4A2 collagen type IV alpha 2 chain IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:110,307,284...110,513,209
Ensembl chr13:110,305,812...110,513,209
JBrowse link
G DAOA D-amino acid oxidase activator IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:105,465,867...105,491,034
Ensembl chr13:105,465,867...105,491,034
JBrowse link
G DAOA-AS1 DAOA antisense RNA 1 IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:105,459,055...105,505,681
Ensembl chr13:105,459,055...105,505,681
JBrowse link
G DCT dopachrome tautomerase IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:94,436,811...94,549,406
Ensembl chr13:94,436,811...94,479,682
JBrowse link
G DNAJC3 DnaJ heat shock protein family (Hsp40) member C3 IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:95,677,139...95,794,988
Ensembl chr13:95,677,139...95,794,988
JBrowse link
G DOCK9 dedicator of cytokinesis 9 IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:98,793,429...99,088,619
Ensembl chr13:98,793,429...99,086,625
JBrowse link
G DZIP1 DAZ interacting zinc finger protein 1 IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:95,578,202...95,644,706
Ensembl chr13:95,578,202...95,644,706
JBrowse link
G EFNB2 ephrin B2 IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:106,489,745...106,535,662
Ensembl chr13:106,489,745...106,535,662
JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995
JBrowse link
G FARP1 FERM, ARH/RhoGEF and pleckstrin domain protein 1 IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:98,142,172...98,455,176
Ensembl chr13:98,142,562...98,455,176
JBrowse link
G FGF14 fibroblast growth factor 14 IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:101,710,804...102,402,443
Ensembl chr13:101,710,804...102,402,457
JBrowse link
G GGACT gamma-glutamylamine cyclotransferase IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:100,530,180...100,588,789
Ensembl chr13:100,530,164...100,589,528
JBrowse link
G GPC6 glypican 6 IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:93,216,529...94,408,020
Ensembl chr13:93,226,807...94,408,020
JBrowse link
G GPR18 G protein-coupled receptor 18 IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:99,254,739...99,258,379
Ensembl chr13:99,254,732...99,261,744
JBrowse link
G GPR180 G protein-coupled receptor 180 IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:94,601,857...94,634,661
Ensembl chr13:94,601,857...94,634,661
JBrowse link
G GPR183 G protein-coupled receptor 183 IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:99,294,539...99,307,399
Ensembl chr13:99,294,539...99,307,399
JBrowse link
G HS6ST3 heparan sulfate 6-O-sulfotransferase 3 IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:96,090,107...96,839,562
Ensembl chr13:96,090,107...96,839,562
JBrowse link
G ING1 inhibitor of growth family member 1 IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:110,712,623...110,723,339
Ensembl chr13:110,712,736...110,723,339
JBrowse link
G IPO5 importin 5 IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:97,953,675...98,024,296
Ensembl chr13:97,953,658...98,024,296
JBrowse link
G IRS2 insulin receptor substrate 2 IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:109,752,695...109,786,583
Ensembl chr13:109,752,695...109,786,583
JBrowse link
G ITGBL1 integrin subunit beta like 1 IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:101,452,675...101,723,106
Ensembl chr13:101,452,593...101,720,856
JBrowse link
G LIG4 DNA ligase 4 IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368
JBrowse link
G LINC00567 long intergenic non-protein coding RNA 567 IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:110,809,676...110,813,084
Ensembl chr13:110,809,676...110,813,084
JBrowse link
G MBNL2 muscleblind like splicing regulator 2 IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:97,141,834...97,394,120
Ensembl chr13:97,221,434...97,394,120
JBrowse link
G METTL21C methyltransferase 21C, AARS1 lysine IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:102,685,747...102,704,300
Ensembl chr13:102,685,747...102,695,044
JBrowse link
G MYO16 myosin XVI IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:108,495,716...109,208,005
Ensembl chr13:108,596,152...109,208,005
JBrowse link
G NALCN sodium leak channel, non-selective IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508
JBrowse link
G NALF1 NALCN channel auxiliary factor 1 IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:107,163,510...107,867,496
Ensembl chr13:107,163,510...107,867,496
JBrowse link
G NAXD NAD(P)HX dehydratase IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:110,615,460...110,639,996
Ensembl chr13:110,615,545...110,639,996
JBrowse link
G OXGR1 oxoglutarate receptor 1 IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:96,985,713...96,994,730
Ensembl chr13:96,985,713...96,994,730
JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:100,089,093...100,530,435
Ensembl chr13:100,089,015...100,530,437
JBrowse link
G POGLUT2 protein O-glucosyltransferase 2 IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:102,784,281...102,798,976
Ensembl chr13:102,784,281...102,798,976
JBrowse link
G RAB20 RAB20, member RAS oncogene family IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:110,523,066...110,561,722
Ensembl chr13:110,523,066...110,561,722
JBrowse link
G RAP2A RAP2A, member of RAS oncogene family IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:97,434,169...97,469,128
Ensembl chr13:97,434,169...97,469,128
JBrowse link
G RNF113B ring finger protein 113B IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:98,175,785...98,177,269
Ensembl chr13:98,175,785...98,177,269
JBrowse link
G SLC10A2 solute carrier family 10 member 2 IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:103,043,998...103,066,417
Ensembl chr13:103,043,998...103,066,417
JBrowse link
G SLC15A1 solute carrier family 15 member 1 IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:98,683,801...98,752,672
Ensembl chr13:98,683,801...98,752,672
JBrowse link
G SOX21 SRY-box transcription factor 21 IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:94,709,622...94,712,545
Ensembl chr13:94,709,622...94,712,545
JBrowse link
G STK24 serine/threonine kinase 24 IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:98,445,185...98,577,107
Ensembl chr13:98,445,185...98,577,940
JBrowse link
G TEX30 testis expressed 30 IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:102,765,888...102,773,786
Ensembl chr13:102,765,888...102,773,811
JBrowse link
G TGDS TDP-glucose 4,6-dehydratase IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:94,574,054...94,596,273
Ensembl chr13:94,574,054...94,596,242
JBrowse link
G TM9SF2 transmembrane 9 superfamily member 2 IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:99,501,472...99,564,048
Ensembl chr13:99,446,311...99,564,048
JBrowse link
G TMTC4 transmembrane O-mannosyltransferase targeting cadherins 4 IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:100,603,625...100,675,075
Ensembl chr13:100,603,625...100,675,093
JBrowse link
G TNFSF13B TNF superfamily member 13b IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:108,269,629...108,308,484
Ensembl chr13:108,251,240...108,308,484
JBrowse link
G TPP2 tripeptidyl peptidase 2 IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:102,596,986...102,679,958
Ensembl chr13:102,596,986...102,679,958
JBrowse link
G UBAC2 UBA domain containing 2 IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:99,200,854...99,386,504
Ensembl chr13:99,200,774...99,386,504
JBrowse link
G UGGT2 UDP-glucose glycoprotein glucosyltransferase 2 IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:95,801,580...96,053,401
Ensembl chr13:95,801,580...96,053,482
JBrowse link
G ZIC2 Zic family member 2 IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:99,981,784...99,986,765
Ensembl chr13:99,981,784...99,986,765
JBrowse link
G ZIC5 Zic family member 5 IAGP ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr13:99,962,964...99,971,909
Ensembl chr13:99,962,964...99,971,767
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 22046
    physical disorder 4766
      imperforate anus 104
        Anal Atresia, Hypospadias, and Penoscrotal Inversion 60
Path 2
Term Annotations click to browse term
  disease 22046
    disease of anatomical entity 20604
      gastrointestinal system disease 6774
        Gastrointestinal Diseases 5026
          intestinal disease 3080
            rectal disease 1958
              anus disease 139
                imperforate anus 104
                  Anal Atresia, Hypospadias, and Penoscrotal Inversion 60
paths to the root