ONTOLOGY REPORT - ANNOTATIONS

Term:Hirschsprung Disease
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Accession:RDO:0000841 term browser browse the term
Definition:Congenital MEGACOLON resulting from the absence of ganglion cells (aganglionosis) in a distal segment of the LARGE INTESTINE. The aganglionic segment is permanently contracted thus causing dilatation proximal to it. In most cases, the aganglionic segment is within the RECTUM and SIGMOID COLON.
Synonyms:exact_synonym: AGANGLIONIC MEGACOLON;   Colonic Aganglionosis;   Congenital Megacolon;   HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1;   HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2;   HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3;   HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4;   HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 5;   HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 6;   HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 7;   HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 8;   HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 9;   HSCR;   HSCR1;   HSCR2;   HSCR3;   HSCR4;   HSCR5;   HSCR6;   HSCR7;   HSCR8;   HSCR9;   Hirschsprung's Disease;   Hirschsprungs Disease;   MGC;   Rectosigmoid Aganglionosis;   Rectosigmoid Colon Aganglionosis;   Total Colonic Aganglionosis
 primary_id: MESH:D006627
 alt_id: OMIM:131242;   OMIM:142623;   OMIM:600155;   OMIM:600156;   OMIM:600423;   OMIM:600837;   OMIM:606874;   OMIM:606875;   OMIM:608462;   OMIM:611644;   OMIM:613711;   OMIM:613712

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Hirschsprung Disease term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ache acetylcholinesterase ISS RGD:5509847 RGD
G Aco2 aconitase 2, mitochondrial GBrowse link ISS 7 120,223,788 120,266,944 RGD:1300344 RGD
G Cd14 CD14 molecule GBrowse link IEP 18 29,374,593 29,376,190 RGD:7193054 RGD
G Ece1 endothelin converting enzyme 1 GBrowse link ISS 5 156,635,656 156,735,783 RGD:734909 RGD
G Ece1 endothelin converting enzyme 1 GBrowse link ISS 5 156,635,656 156,735,783 RGD:7240710 OMIM
G Edn3 endothelin 3 GBrowse link ISS 3 166,491,368 166,514,051 RGD:1601003 RGD
G Edn3 endothelin 3 GBrowse link ISS 3 166,491,368 166,514,051 RGD:7240710 OMIM
G Ednrb endothelin receptor type B GBrowse link IAGP 15 87,893,141 87,898,700 RGD:1342447 RGD
G Ednrb endothelin receptor type B GBrowse link ISS 15 87,893,141 87,898,700 RGD:1601008 RGD
G Ednrb endothelin receptor type B GBrowse link ISS 15 87,893,141 87,898,700 RGD:7240710 OMIM
G Erbb2 v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) GBrowse link ISS 10 87,219,157 87,242,919 RGD:734940 RGD
G Gdnf glial cell derived neurotrophic factor GBrowse link ISS 2 57,399,312 57,424,030 RGD:704404 RGD
G Gdnf glial cell derived neurotrophic factor GBrowse link ISS 2 57,399,312 57,424,030 RGD:7240710 OMIM
G Gfra1 GDNF family receptor alpha 1 GBrowse link ISS 1 264,614,329 264,875,486 RGD:6218967 RGD
G L1cam L1 cell adhesion molecule GBrowse link ISS X 159,784,792 159,801,553 RGD:6483043 RGD
G Ngfr nerve growth factor receptor GBrowse link ISS 10 84,262,804 84,281,006 RGD:5508387 RGD
G Nrtn neurturin ISS RGD:1600267 RGD
G Ntrk1 neurotrophic tyrosine kinase, receptor, type 1 GBrowse link ISS 2 179,838,740 179,855,545 RGD:5684546 RGD
G Ret ret proto-oncogene GBrowse link ISS 4 154,448,179 154,491,103 RGD:7240710 OMIM
G Stx1a syntaxin 1A (brain) GBrowse link ISS 12 22,737,112 22,765,064 RGD:1581432 RGD
G Zeb2 zinc finger E-box binding homeobox 2 GBrowse link ISS 3 25,513,009 25,654,964 RGD:1599885 RGD
Q Gdil1 Gastrointestinal dilation QTL 1 GBrowse link IAGP 2 57,161,998 75,806,439 RGD:6480217 RGD
S AR-EdnrbSlHkv Aganglionosis rat IED RGD:6480215 RGD
S AR-EdnrbSlOkkm Aganglionosis rat TAS RGD:1302502 RGD
S F344-EdnrbSlHkv Aganglionosis rat IED RGD:6480215 RGD
S LE-EdnrbSlHkv Aganglionosis rat IED RGD:6480217 RGD
S LE.AR-EdnrbSl/Okkm TAS RGD:1302502 RGD
S Sl Model IAGP RGD:1342447 RGD
Aganglionosis, total intestinal term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
Q Gdil1 Gastrointestinal dilation QTL 1 GBrowse link IAGP 2 57,161,998 75,806,439 RGD:6480217 RGD
S AR-EdnrbSlHkv Aganglionosis rat IED RGD:6480217 RGD
S F344-EdnrbSlHkv Aganglionosis rat IED RGD:6480215 RGD
S LE-EdnrbSlHkv Aganglionosis rat IED RGD:6480215 RGD
Cartilage-hair hypoplasia term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Rmrp RNA component of mitochondrial RNA processing endoribonuclease GBrowse link ISS 15 26,789,869 26,790,125 RGD:7240710 OMIM
Goldberg-Shprintzen megacolon syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G LOC606294 hypothetical protein LOC606294 GBrowse link ISS 20 29,817,255 29,836,819 RGD:7240710 OMIM
Mowat-Wilson syndrome term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Zeb2 zinc finger E-box binding homeobox 2 GBrowse link ISS 3 25,513,009 25,654,964 RGD:7240710 OMIM
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Sox10 SRY (sex determining region Y)-box 10 GBrowse link ISS 7 117,138,694 117,149,939 RGD:7240710 OMIM
WAARDENBURG SYNDROME, TYPE 4A term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Ednrb endothelin receptor type B GBrowse link ISS 15 87,893,141 87,898,700 RGD:7240710 OMIM
Waardenburg Syndrome, Type 4b term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Edn3 endothelin 3 GBrowse link ISS 3 166,491,368 166,514,051 RGD:7240710 OMIM
Waardenburg Syndrome, Type 4c term browser
Symbol Object Name GBrowse Qualifiers Evidence Chr Start Stop Reference Source
G Sox10 SRY (sex determining region Y)-box 10 GBrowse link ISS 7 117,138,694 117,149,939 RGD:7240710 OMIM
Term paths to the root
Path 1
Term Annotations click to browse term
  Diseases 30711
    Digestive System Diseases 2266
      Digestive System Abnormalities 59
        Hirschsprung Disease 39
          Aganglionosis, total intestinal 4
          Al Gazali Hirschsprung syndrome 0
          Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate/Cryptorchidism, And Kidney Dysplasia/Hypoplasia 0
          Cartilage hair hypoplasia like syndrome 0
          Cartilage-hair hypoplasia 1
          Goldberg-Shprintzen megacolon syndrome 1
          Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly 0
          Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 0
          Hirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect 0
          Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction 0
          Hirschsprung disease 1 0
          Hirschsprung disease ganglioneuroblastoma 0
          Hirschsprung disease polydactyly heart disease 0
          Hirschsprung disease type 3 0
          Hirschsprung disease type d brachydactyly 0
          Laurence Prosser Rocker syndrome 0
          Mowat-Wilson syndrome 1
          Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 1
          Santos Mateus Leal syndrome 0
          WAARDENBURG SYNDROME, TYPE 4A 1
          Waardenburg Syndrome, Type 4b 1
          Waardenburg Syndrome, Type 4c 1
Path 2
Term Annotations click to browse term
  Diseases 30711
    Digestive System Diseases 2266
      Gastrointestinal Diseases 810
        Intestinal Diseases 667
          Colonic Diseases 383
            Megacolon 40
              Hirschsprung Disease 39
                Aganglionosis, total intestinal 4
                Al Gazali Hirschsprung syndrome 0
                Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate/Cryptorchidism, And Kidney Dysplasia/Hypoplasia 0
                Cartilage hair hypoplasia like syndrome 0
                Cartilage-hair hypoplasia 1
                Goldberg-Shprintzen megacolon syndrome 1
                Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly 0
                Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 0
                Hirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect 0
                Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction 0
                Hirschsprung disease 1 0
                Hirschsprung disease ganglioneuroblastoma 0
                Hirschsprung disease polydactyly heart disease 0
                Hirschsprung disease type 3 0
                Hirschsprung disease type d brachydactyly 0
                Laurence Prosser Rocker syndrome 0
                Mowat-Wilson syndrome 1
                Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 1
                Santos Mateus Leal syndrome 0
                WAARDENBURG SYNDROME, TYPE 4A 1
                Waardenburg Syndrome, Type 4b 1
                Waardenburg Syndrome, Type 4c 1
paths to the root

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