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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:imperforate anus
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Accession:DOID:10488 term browser browse the term
Definition:A congenital abnormality characterized by the persistence of the anal membrane, resulting in a thin membrane covering the normal ANAL CANAL. Imperforation is not always complete and is treated by surgery in infancy. This defect is often associated with NEURAL TUBE DEFECTS; MENTAL RETARDATION; and DOWN SYNDROME.
Synonyms:exact_synonym: anal atresia;   anal atresias;   congenital atresia of anus;   congenital or infantile occlusion of anus
 primary_id: MESH:D001006
 alt_id: MIM:207500;   MIM:301800
 xref: GARD:6769;   ICD10CM:Q42.3;   NCI:C84784
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
imperforate anus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Imperforate anus ClinVar PMID:25741868 NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:129,517,545...129,544,662 		JBrowse link
G Cul9 cullin 9 ISO ClinVar Annotator: match by term: Imperforate anus ClinVar PMID:25741868 NCBI chr 9:21,933,699...21,977,145
Ensembl chr 9:21,933,803...21,977,145 		JBrowse link
G Map4k4 mitogen-activated protein kinase kinase kinase kinase 4 ISO ClinVar Annotator: match by term: Imperforate anus ClinVar NCBI chr 9:49,696,573...49,822,353
Ensembl chr 9:49,696,700...49,822,353 		JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Anal atresia ClinVar PMID:10405444 PMID:17334363 PMID:18691967 PMID:18805826 PMID:18973276 More... NCBI chr  X:70,444,615...70,467,780
Ensembl chr  X:70,444,705...70,467,708 		JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 1:224,263,823...224,694,350
Ensembl chr 1:224,264,678...224,694,347 		JBrowse link
G Robo1 roundabout guidance receptor 1 ISO ClinVar Annotator: match by term: Imperforate anus ClinVar PMID:25741868 NCBI chr11:24,067,869...25,108,694
Ensembl chr11:24,067,878...25,108,694 		JBrowse link
Burn-McKeown syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Txnl4a thioredoxin-like 4A ISO ClinVar Annotator: match by term: Burn-McKeown syndrome | ClinVar Annotator: match by term: TXNL4A-related condition
CTD Direct Evidence: marker/mechanism
DNA:missense mutations,deletions:promoter, cds:
DNA:deletions:promoter: 		OMIM
ClinVar
CTD
RGD		 PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 More... RGD:11531484, RGD:155882456 NCBI chr18:75,934,085...75,949,873
Ensembl chr18:75,933,993...75,949,873 		JBrowse link
FG syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cask calcium/calmodulin dependent serine protein kinase ISO DNA:missense mutation:exon:p.R28L (c.83G>T) (human)
ClinVar Annotator: match by term: FG syndrome
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:25741868 PMID:19200522 RGD:11576290 NCBI chr  X:11,572,328...11,915,831
Ensembl chr  X:11,572,636...11,911,948 		JBrowse link
G Flna filamin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632775 NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:157,159,051...157,182,343 		JBrowse link
G Med12 mediator complex subunit 12 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: FG syndrome | ClinVar Annotator: match by term: Keller syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, LARGE HEAD, IMPERFORATE ANUS, CONGENITAL HYPOTONIA, AND PARTIAL AGENESIS OF CORPUS CALLOSUM | ClinVar Annotator: match by term: Opitz-Kaveggia syndrome
DNA:missense mutation:cds:2881C>T(p.R961W)(human)
DNA:missense mutation:cds:p.G958E(human) 		CTD
ClinVar
RGD		 PMID:6711603 PMID:8279489 PMID:9536098 PMID:10405444 PMID:10982179 More... RGD:12910952, RGD:12910948 NCBI chr  X:70,444,615...70,467,780
Ensembl chr  X:70,444,705...70,467,708 		JBrowse link
FG Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: FG syndrome 1 OMIM
ClinVar		 PMID:6711603 PMID:8279489 PMID:9286458 PMID:10405444 PMID:16700052 More... NCBI chr  X:70,444,615...70,467,780
Ensembl chr  X:70,444,705...70,467,708 		JBrowse link
FG Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin A ISO ClinVar Annotator: match by term: FG syndrome 2 OMIM
ClinVar		 PMID:9071288 PMID:10982489 PMID:12612583 PMID:15523633 PMID:15917206 More... NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:157,159,051...157,182,343 		JBrowse link
FG Syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cask calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: CASK-related disorder | ClinVar Annotator: match by term: FG syndrome 4 OMIM
ClinVar		 PMID:18414213 PMID:19165920 PMID:19200522 PMID:19377476 PMID:20029458 More... NCBI chr  X:11,572,328...11,915,831
Ensembl chr  X:11,572,636...11,911,948 		JBrowse link
IVIC syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sall4 spalt-like transcription factor 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Oculootoradial syndrome | ClinVar Annotator: match by term: SALL4-Related Spectrum Disorders 		OMIM
CTD
ClinVar		 PMID:7395922 PMID:17256792 PMID:25741868 PMID:28492532 NCBI chr 3:177,891,705...177,909,743
Ensembl chr 3:177,891,705...177,909,743 		JBrowse link
Johanson-Blizzard syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ubr1 ubiquitin protein ligase E3 component n-recognin 1 ISO
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Johanson-Blizzard syndrome | ClinVar Annotator: match by term: Nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness | ClinVar Annotator: match by term: UBR1-related condition
OMIM:243800
DNA:mutation:exon:exon 15, c.1759C>T, p.Q587X (human)
DNA:splice-site mutation:cds:IVS26+5G>A (human) 		OMIM
CTD
ClinVar
MouseDO
RGD		 PMID:16311597 PMID:18553553 PMID:19006206 PMID:19058315 PMID:20556423 More... RGD:155882463, RGD:155882462 NCBI chr 3:128,265,160...128,377,830
Ensembl chr 3:128,265,115...128,375,671 		JBrowse link
Oculootofacial Dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Txnl4a thioredoxin-like 4A ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA | ClinVar Annotator: match by term: Oculootofacial dysplasia ClinVar PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 More... NCBI chr18:75,934,085...75,949,873
Ensembl chr18:75,933,993...75,949,873 		JBrowse link
Townes-Brocks syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dact1 dishevelled-binding antagonist of beta-catenin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Townes syndrome 		CTD
ClinVar		 PMID:25741868 NCBI chr 6:95,526,645...95,538,625
Ensembl chr 6:95,526,690...95,551,053 		JBrowse link
G Sall1 spalt-like transcription factor 1 ISO
ISS 		ClinVar Annotator: match by term: SALL1-related condition | ClinVar Annotator: match by term: Townes syndrome | ClinVar Annotator: match by term: Townes-Brocks syndrome | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome
OMIM:107480
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:8133838 PMID:9425907 PMID:9536098 PMID:9973281 PMID:10533063 More... NCBI chr19:34,179,316...34,196,278
Ensembl chr19:34,181,078...34,196,278 		JBrowse link
Townes-Brocks Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dact1 dishevelled-binding antagonist of beta-catenin 1 ISO ClinVar Annotator: match by term: DACT1-related condition | ClinVar Annotator: match by term: Townes-Brocks syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:28054444 PMID:28492532 PMID:36066768 NCBI chr 6:95,526,645...95,538,625
Ensembl chr 6:95,526,690...95,551,053 		JBrowse link
Townes-Brocks-Branchiootorenal-Like Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sall1 spalt-like transcription factor 1 ISO ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome ClinVar PMID:9973281 PMID:10928856 PMID:14755477 PMID:16088922 PMID:23069192 More... NCBI chr19:34,179,316...34,196,278
Ensembl chr19:34,181,078...34,196,278 		JBrowse link
VACTERL association term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cplane2 ciliogenesis and planar polarity effector complex subunit 2 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr 5:158,798,503...158,799,451
Ensembl chr 5:158,798,287...158,804,132 		JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr 8:12,473,955...12,697,075
Ensembl chr 8:12,473,955...12,697,058 		JBrowse link
G Fancl FA complementation group L ISO ClinVar Annotator: match by term: VATER association ClinVar PMID:19405097 PMID:23613520 PMID:25754594 PMID:28492532 NCBI chr14:104,449,403...104,515,297
Ensembl chr14:104,394,590...104,515,297 		JBrowse link
G Fn1 fibronectin 1 IEP protein:increased expression:embryo RGD PMID:14986037 RGD:7205466 NCBI chr 9:80,645,507...80,714,200
Ensembl chr 9:80,645,507...80,714,137 		JBrowse link
G Foxf1 forkhead box F1 ISO ClinVar Annotator: match by term: VATER association ClinVar PMID:2629409 PMID:26294094 NCBI chr19:66,062,635...66,066,427
Ensembl chr19:66,062,369...66,066,428 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO RGD PMID:11172440 RGD:155791680 NCBI chr13:32,499,678...32,716,418
Ensembl chr13:32,499,678...32,716,418 		JBrowse link
G Gli3 GLI family zinc finger 3 ISO RGD PMID:11172440 RGD:155791680 NCBI chr17:54,134,064...54,405,198
Ensembl chr17:54,134,064...54,405,198 		JBrowse link
G Hoxd13 homeo box D13 ISO ClinVar Annotator: match by term: VATER association
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD		 PMID:19006232 NCBI chr 3:79,978,077...79,981,393
Ensembl chr 3:79,978,076...79,981,393 		JBrowse link
G Ift172 intraflagellar transport 172 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr 6:30,801,841...30,841,239
Ensembl chr 6:30,801,918...30,840,830 		JBrowse link
G Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: VATER association ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:188,299,336...188,432,823
Ensembl chr 2:188,299,336...188,432,823 		JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:192350 | OMIM:276950
DNA:mutation:exon:p.C470R(mouse) 		CTD
MouseDO
RGD		 PMID:18519639 PMID:18519639 RGD:11556208 NCBI chr 1:224,263,823...224,694,350
Ensembl chr 1:224,264,678...224,694,347 		JBrowse link
G Qsox1 quiescin sulfhydryl oxidase 1 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr13:70,500,060...70,537,711
Ensembl chr13:70,500,060...70,537,733 		JBrowse link
G Shh sonic hedgehog signaling molecule IEP RGD PMID:12632369 RGD:12801426 NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:7,687,846...7,697,901 		JBrowse link
G Tbc1d32 TBC1 domain family, member 32 ISS OMIM:192350 | OMIM:276950 MouseDO NCBI chr20:35,902,281...36,133,161
Ensembl chr20:35,902,700...36,133,057 		JBrowse link
G Trap1 TNF receptor-associated protein 1 ISO ClinVar Annotator: match by term: VATER association ClinVar PMID:25741868 NCBI chr10:11,971,259...12,005,306
Ensembl chr10:11,970,995...12,005,355 		JBrowse link
X-linked VACTERL association term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Baz1a bromodomain adjacent to zinc finger domain, 1A ISO ClinVar Annotator: match by term: VATER/VACTERL association with CNS malformations ClinVar NCBI chr 6:78,124,872...78,247,672
Ensembl chr 6:78,124,872...78,247,648 		JBrowse link
G Fancb FA complementation group B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL ASSOCIATION, X-LINKED | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus | ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: VACTERL-H, X-LINKED | ClinVar Annotator: match by term: X-linked VACTERL-H syndrome 		CTD
ClinVar		 PMID:24033266 PMID:25741868 PMID:28492532 PMID:32546565 NCBI chr  X:33,035,387...33,051,993
Ensembl chr  X:33,035,387...33,051,808 		JBrowse link
G Fancl FA complementation group L ISO ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus ClinVar PMID:19405097 PMID:23613520 PMID:25741868 PMID:25754594 PMID:28492532 More... NCBI chr14:104,449,403...104,515,297
Ensembl chr14:104,394,590...104,515,297 		JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: Vater association with macrocephaly and ventriculomegaly 		CTD
ClinVar		 PMID:9259288 PMID:10866302 PMID:11071384 PMID:11748304 PMID:15492994 More... NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:240,043,707...240,110,330 		JBrowse link
G Sall1 spalt-like transcription factor 1 ISO ClinVar Annotator: match by term: VACTERL-H ClinVar PMID:24429398 PMID:25741868 PMID:28492532 NCBI chr19:34,179,316...34,196,278
Ensembl chr19:34,181,078...34,196,278 		JBrowse link
G Zic3 Zic family member 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL ASSOCIATION, X-LINKED | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus 		OMIM
CTD
ClinVar		 PMID:2629409 PMID:10980576 PMID:14681828 PMID:17764085 PMID:23427188 More... NCBI chr  X:141,159,623...141,165,587
Ensembl chr  X:141,149,594...141,170,464 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    physical disorder 2432
      imperforate anus 31
        Anal Atresia, Hypospadias, and Penoscrotal Inversion 0
        Axial Mesodermal Dysplasia Spectrum 0
        Cervical Ribs, Sprengel Anomaly, Anal Atresia, Urethral Obstruction 0
        FG syndrome + 3
        Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia 0
        IVIC syndrome 1
        Johanson-Blizzard syndrome 1
        Karandikar Maria Kamble Syndrome 0
        Oculootofacial Dysplasia + 1
        Omphalocele Exstrophy Imperforate Anus 0
        Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies 0
        Stratton-Parker Syndrome 0
        Thymic-Renal-Anal-Lung Dysplasia 0
        Townes-Brocks syndrome + 2
        VACTERL association + 20
        Verloes Gillerot Fryns Syndrome 0
Path 2
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      gastrointestinal system disease 4904
        intestinal disease 1761
          rectal disease 1140
            anus disease 64
              imperforate anus 31
                Anal Atresia, Hypospadias, and Penoscrotal Inversion 0
                Axial Mesodermal Dysplasia Spectrum 0
                Cervical Ribs, Sprengel Anomaly, Anal Atresia, Urethral Obstruction 0
                FG syndrome + 3
                Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia 0
                IVIC syndrome 1
                Johanson-Blizzard syndrome 1
                Karandikar Maria Kamble Syndrome 0
                Oculootofacial Dysplasia + 1
                Omphalocele Exstrophy Imperforate Anus 0
                Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies 0
                Stratton-Parker Syndrome 0
                Thymic-Renal-Anal-Lung Dysplasia 0
                Townes-Brocks syndrome + 2
                VACTERL association + 20
                Verloes Gillerot Fryns Syndrome 0
paths to the root