ONTOLOGY REPORT - ANNOTATIONS


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: OMIM:207500;   OMIM:301800;   RDO:0000721
 xref: GARD:6769
For additional species annotation, visit the Alliance of Genome Resources.


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imperforate anus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctnnb1 catenin beta 1 JBrowse link 8 129,601,511 129,628,378 RGD:8554872
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:8554872
G Pcsk5 proprotein convertase subtilisin/kexin type 5 JBrowse link 1 236,031,988 236,313,858 RGD:11554173
Burn-Mckeown Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aadac arylacetamide deacetylase JBrowse link 2 150,146,234 150,157,480 RGD:8554872
G Adnp2 ADNP homeobox 2 JBrowse link 18 76,637,415 76,661,186 RGD:8554872
G Atp9b ATPase phospholipid transporting 9B (putative) JBrowse link 18 77,343,551 77,535,608 RGD:8554872
G Ctdp1 CTD phosphatase subunit 1 JBrowse link 18 76,922,913 76,985,095 RGD:8554872
G Galr1 galanin receptor 1 JBrowse link 18 79,243,009 79,258,570 RGD:8554872
G Hsbp1l1 heat shock factor binding protein 1-like 1 JBrowse link 18 76,748,067 76,754,642 RGD:8554872
G Kcng2 potassium voltage-gated channel modifier subfamily G member 2 JBrowse link 18 76,808,294 76,880,742 RGD:8554872
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 JBrowse link 1 216,293,087 216,630,339 RGD:8554872
G Mbp myelin basic protein JBrowse link 18 79,326,738 79,437,310 RGD:8554872
G Nfatc1 nuclear factor of activated T-cells 1 JBrowse link 18 77,203,517 77,322,690 RGD:8554872
G Pard6g par-6 family cell polarity regulator gamma JBrowse link 18 76,559,877 76,627,843 RGD:8554872
G Pqlc1 PQ loop repeat containing 1 JBrowse link 18 76,768,466 76,805,773 RGD:8554872
G Rbfa ribosome binding factor A JBrowse link 18 76,704,223 76,714,387 RGD:8554872
G Sall3 spalt-like transcription factor 3 JBrowse link 18 77,572,200 77,591,710 RGD:8554872
G Tmem43 transmembrane protein 43 JBrowse link 4 123,118,468 123,133,610 RGD:8554872
G Txnl4a thioredoxin-like 4A JBrowse link 18 76,725,221 76,740,673 RGD:8554872
RGD:7240710
G Xpc XPC complex subunit, DNA damage recognition and repair factor JBrowse link 4 123,134,457 123,161,985 RGD:8554872
G Zfp236 zinc finger protein 236 JBrowse link 18 79,447,384 79,543,271 RGD:8554872
G Zfp516 zinc finger protein 516 JBrowse link 18 79,768,387 79,857,909 RGD:8554872
FG syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp6ap2 ATPase H+ transporting accessory protein 2 JBrowse link X 11,137,889 11,164,854 RGD:8554872
G Bcor BCL6 co-repressor JBrowse link X 11,570,155 11,692,022 RGD:8554872
G Cask calcium/calmodulin dependent serine protein kinase JBrowse link X 9,815,652 10,156,155 RGD:7240710
RGD:8554872
RGD:11576290
G Ddx3x DEAD-box helicase 3, X-linked JBrowse link X 10,400,363 10,414,010 RGD:8554872
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:7240710
RGD:8554872
RGD:11554173
G Gpr34 G protein-coupled receptor 34 JBrowse link X 10,022,986 10,043,504 RGD:8554872
G Gpr82 G protein-coupled receptor 82 JBrowse link X 9,992,832 10,001,036 RGD:8554872
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:7240710
RGD:8554872
RGD:12910952
RGD:12910948
RGD:11554173
G Med14 mediator complex subunit 14 JBrowse link X 10,964,035 11,082,403 RGD:8554872
G Mpc1l mitochondrial pyruvate carrier 1-like JBrowse link X 11,098,849 11,105,312 RGD:8554872
G Nyx nyctalopin JBrowse link X 10,197,547 10,218,583 RGD:8554872
G RGD1565685 similar to RIKEN cDNA 1810030O07 JBrowse link X 11,082,668 11,105,588 RGD:8554872
G Usp9x ubiquitin specific peptidase 9, X-linked JBrowse link X 10,510,033 10,660,555 RGD:8554872
Johanson-Blizzard syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ubr1 ubiquitin protein ligase E3 component n-recognin 1 JBrowse link 3 112,800,557 112,910,038 RGD:7240710
RGD:8554872
Oculootofacial Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aadac arylacetamide deacetylase JBrowse link 2 150,146,234 150,157,480 RGD:8554872
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 JBrowse link 1 216,293,087 216,630,339 RGD:8554872
G Tmem43 transmembrane protein 43 JBrowse link 4 123,118,468 123,133,610 RGD:8554872
G Xpc XPC complex subunit, DNA damage recognition and repair factor JBrowse link 4 123,134,457 123,161,985 RGD:8554872
Oculootoradial Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sall4 spalt-like transcription factor 4 JBrowse link 3 165,520,155 165,538,176 RGD:7240710
RGD:8554872
Townes-Brocks syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dact1 dishevelled-binding antagonist of beta-catenin 1 JBrowse link 6 93,740,440 93,751,003 RGD:11554173
G Sall1 spalt-like transcription factor 1 JBrowse link 19 23,387,737 23,405,025 RGD:7240710
RGD:8554872
RGD:11554173
Townes-Brocks Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dact1 dishevelled-binding antagonist of beta-catenin 1 JBrowse link 6 93,740,440 93,751,003 RGD:8554872
RGD:7240710
Townes-Brocks-Branchiootorenal-Like Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sall1 spalt-like transcription factor 1 JBrowse link 19 23,387,737 23,405,025 RGD:8554872
VACTERL association term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cplane2 ciliogenesis and planar polarity effector 2 JBrowse link 5 159,735,008 159,735,956 RGD:13592920
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 JBrowse link 8 5,217,054 5,436,969 RGD:13592920
G Fn1 fibronectin 1 JBrowse link 9 78,900,111 78,969,018 RGD:7205466
G Foxf1 forkhead box F1 JBrowse link 19 53,012,306 53,016,100 RGD:8554872
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:8554872
RGD:11554173
G Ift172 intraflagellar transport 172 JBrowse link 6 26,390,686 26,485,459 RGD:13592920
G Pcsk5 proprotein convertase subtilisin/kexin type 5 JBrowse link 1 236,031,988 236,313,858 RGD:11554173
RGD:11556208
G Qsox1 quiescin sulfhydryl oxidase 1 JBrowse link 13 73,423,396 73,460,890 RGD:13592920
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:12801426
G Tbc1d32 TBC1 domain family, member 32 JBrowse link 20 37,463,879 37,701,268 RGD:13592920
VACTERL/VATER Association with Hydrocephalus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Baz1a bromodomain adjacent to zinc finger domain, 1A JBrowse link 6 75,793,223 75,873,854 RGD:8554872
G Fancb FA complementation group B JBrowse link X 31,124,018 31,140,790 RGD:11554173
RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:11554173
RGD:8554872
G Zic3 Zic family member 3 JBrowse link X 140,875,191 140,888,344 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    physical disorder 742
      imperforate anus 51
        Anal Atresia, Hypospadias, and Penoscrotal Inversion 0
        Axial Mesodermal Dysplasia Spectrum 0
        Cervical Ribs Sprengel Anomaly Anal Atresia Urethral Obstruction 0
        FG syndrome 13
        Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia 0
        Johanson-Blizzard syndrome 1
        Karandikar Maria Kamble Syndrome 0
        Oculootofacial Dysplasia + 19
        Oculootoradial Syndrome 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 10
        VACTERL/VATER Association with Hydrocephalus 4
        Verloes Gillerot Fryns Syndrome 0
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      gastrointestinal system disease 4247
        Gastrointestinal Diseases 2345
          intestinal disease 1303
            rectal disease 791
              anus disease 61
                imperforate anus 51
                  Anal Atresia, Hypospadias, and Penoscrotal Inversion 0
                  Axial Mesodermal Dysplasia Spectrum 0
                  Cervical Ribs Sprengel Anomaly Anal Atresia Urethral Obstruction 0
                  FG syndrome 13
                  Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia 0
                  Johanson-Blizzard syndrome 1
                  Karandikar Maria Kamble Syndrome 0
                  Oculootofacial Dysplasia + 19
                  Oculootoradial Syndrome 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 10
                  VACTERL/VATER Association with Hydrocephalus 4
                  Verloes Gillerot Fryns Syndrome 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.