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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:situs inversus
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Accession:DOID:758 term browser browse the term
Definition:A visceral heterotaxy that is characterized by complete right-to-left reversal of the position of the major thoracic and abdominal organs. (DO)
Synonyms:exact_synonym: complete transposition;   laterality sequence;   situs inversus totalis;   situs inversus viscerum
 primary_id: MESH:D012857
 xref: GARD:4883;   ICD10CM:Q89.3;   ICD9CM:759.3;   NCI:C87121
For additional species annotation, visit the Alliance of Genome Resources.


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situs inversus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvr2b activin A receptor type 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:9916847 NCBI chrNW_004955427:25,438,652...25,467,360
Ensembl chrNW_004955427:25,438,652...25,467,360
JBrowse link
G Anks6 ankyrin repeat and sterile alpha motif domain containing 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23793029 NCBI chrNW_004955419:26,801,924...26,852,116
Ensembl chrNW_004955419:26,801,925...26,851,627
JBrowse link
G Cfap52 cilia and flagella associated protein 52 ISO ClinVar Annotator: match by term: Situs inversus totalis ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955467:7,461,258...7,524,178
Ensembl chrNW_004955467:7,459,322...7,524,522
JBrowse link
G Nphp3 nephrocystin 3 ISO RGD PMID:18371931 RGD:11352488 NCBI chrNW_004955501:5,799,879...5,837,022 JBrowse link
G Pkd1l1 polycystin 1 like 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Situs inversus totalis ClinVar PMID:27616478 NCBI chrNW_004955456:5,497,126...5,582,342 JBrowse link
G Zic3 Zic family member 3 ISO X-linked visceral heterotaxy, OMIM:306955 RGD PMID:9354794 RGD:1599909 NCBI chrNW_004955489:7,560,684...7,571,739
Ensembl chrNW_004955489:7,560,684...7,571,892
JBrowse link
Congenital Heart Defects, Multiple Types, 1, X-Linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zic3 Zic family member 3 ISO OMIM NCBI chrNW_004955489:7,560,684...7,571,739
Ensembl chrNW_004955489:7,560,684...7,571,892
JBrowse link
dextrocardia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap53 cilia and flagella associated protein 53 ISO ClinVar Annotator: match by term: Dextrocardia ClinVar PMID:26531781 NCBI chrNW_004955402:35,295,007...35,318,800
Ensembl chrNW_004955402:35,295,007...35,318,799
JBrowse link
G Myrf myelin regulatory factor ISO ClinVar Annotator: match by term: Dextrocardia ClinVar PMID:25741868 PMID:30532227 NCBI chrNW_004955511:5,927,103...5,949,289
Ensembl chrNW_004955511:5,927,698...5,942,242
JBrowse link
G Rai2 retinoic acid induced 2 ISO ClinVar Annotator: match by term: Dextrocardia ClinVar NCBI chrNW_004955519:494,463...553,839
Ensembl chrNW_004955519:494,463...553,839
JBrowse link
G Rock2 Rho associated coiled-coil containing protein kinase 2 ISO ClinVar Annotator: match by term: Dextrocardia ClinVar NCBI chrNW_004955487:5,856,190...5,972,408
Ensembl chrNW_004955487:5,859,204...5,972,401
JBrowse link
G Supt16h SPT16 homolog, facilitates chromatin remodeling subunit ISO ClinVar Annotator: match by term: Dextrocardia ClinVar NCBI chrNW_004955550:2,074,646...2,114,634
Ensembl chrNW_004955550:2,074,941...2,114,528
JBrowse link
G Zfyve16 zinc finger FYVE-type containing 16 ISO ClinVar Annotator: match by term: Dextrocardia ClinVar NCBI chrNW_004955418:29,353,276...29,403,336 JBrowse link
G Zic3 Zic family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17127413 NCBI chrNW_004955489:7,560,684...7,571,739
Ensembl chrNW_004955489:7,560,684...7,571,892
JBrowse link
Kartagener syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc103 coiled-coil domain containing 103 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Kartagener syndrome
CTD
ClinVar
PMID:22581229 PMID:23891469 PMID:24033266 PMID:24357714 PMID:25326635 More... NCBI chrNW_004955451:17,690,148...17,693,285
Ensembl chrNW_004955451:17,690,368...17,693,285
JBrowse link
G Ccdc40 coiled-coil domain containing 40 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Kartagener syndrome
CTD
ClinVar
PMID:21131974 PMID:22693285 PMID:23255504 PMID:28492532 PMID:31443223 NCBI chrNW_004955506:2,783,837...2,840,248
Ensembl chrNW_004955506:2,784,548...2,838,026
JBrowse link
G Ccno cyclin O ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24747639 PMID:25741868 PMID:28492532 PMID:30067075 PMID:31879361 More... NCBI chrNW_004955446:12,432,889...12,435,435
Ensembl chrNW_004955446:12,432,309...12,435,435
JBrowse link
G Cfap298 cilia and flagella associated protein 298 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24094744 PMID:28492532 NCBI chrNW_004955407:32,076,670...32,089,307
Ensembl chrNW_004955407:32,076,507...32,089,307
JBrowse link
G Dnaaf1 dynein axonemal assembly factor 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:19944400 PMID:19944405 NCBI chrNW_004955564:132,497...149,399 JBrowse link
G Dnaaf11 dynein axonemal assembly factor 11 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:23122589 PMID:23891469 PMID:24307375 PMID:28492532 NCBI chrNW_004955461:7,204,165...7,311,524
Ensembl chrNW_004955461:7,204,339...7,312,241
JBrowse link
G Dnaaf2 dynein axonemal assembly factor 2 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:19052621 PMID:24498942 NCBI chrNW_004955409:13,019,941...13,028,378
Ensembl chrNW_004955409:13,020,313...13,027,849
JBrowse link
G Dnaaf3 dynein axonemal assembly factor 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Kartagener syndrome
CTD
ClinVar
PMID:10745040 PMID:22387996 PMID:28492532 NCBI chrNW_004955567:1,030,467...1,036,562 JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23872636 NCBI chrNW_004955409:498,450...523,067 JBrowse link
G Dnah1 dynein axonemal heavy chain 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:25927852 NCBI chrNW_004955430:2,323,928...2,391,470
Ensembl chrNW_004955430:2,327,584...2,391,423
JBrowse link
G Dnah11 dynein axonemal heavy chain 11 susceptibility ISO DNA:nonsense mutation, missense mutation:R2852X, R3004Q RGD PMID:12142464 RGD:734893 NCBI chrNW_004955410:24,045,333...24,352,626
Ensembl chrNW_004955410:24,044,886...24,352,626
JBrowse link
G Dnah5 dynein axonemal heavy chain 5 susceptibility ISO DNA:mutations
ClinVar Annotator: match by term: Kartagener syndrome
RGD
ClinVar
PMID:11788826 PMID:16627867 PMID:19357118 PMID:19630565 PMID:23477994 More... RGD:1601080 NCBI chrNW_004955426:3,105,631...3,406,587
Ensembl chrNW_004955426:3,106,410...3,353,502
JBrowse link
G Dnah8 dynein axonemal heavy chain 8 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24307375 NCBI chrNW_004955437:4,441,776...4,722,261
Ensembl chrNW_004955437:4,441,655...4,718,247
JBrowse link
G Dnai1 dynein axonemal intermediate chain 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Kartagener syndrome
DNA:missense mutation, insertion, deletion:exon, intron:p.G515S
CTD
ClinVar
RGD
PMID:10577904 PMID:11231901 PMID:16199547 PMID:16858015 PMID:18434704 More... RGD:1601083 NCBI chrNW_004955472:1,599,265...1,668,214
Ensembl chrNW_004955472:1,599,493...1,668,024
JBrowse link
G Dnai2 dynein axonemal intermediate chain 2 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:9536098 PMID:17576681 PMID:18950741 PMID:28492532 NCBI chrNW_004955553:1,188,279...1,212,053
Ensembl chrNW_004955553:1,188,279...1,212,053
JBrowse link
G Dnal1 dynein axonemal light chain 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:21496787 NCBI chrNW_004955523:1,682,955...1,719,468
Ensembl chrNW_004955523:1,678,951...1,719,468
JBrowse link
G Drc1 dynein regulatory complex subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Kartagener syndrome
CTD
ClinVar
PMID:12746204 PMID:23354437 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004955469:8,416,934...8,479,961
Ensembl chrNW_004955469:8,417,017...8,479,802
JBrowse link
G Hydin HYDIN axonemal central pair apparatus protein ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:14985390 PMID:23022101 NCBI chrNW_004955484:3,567,896...3,948,807
Ensembl chrNW_004955484:3,567,396...3,949,261
JBrowse link
G Mbl2 mannose binding lectin 2 severity ISO DNA:haplotype:promoter: RGD PMID:24753481 RGD:11250592 NCBI chrNW_004955425:7,704,371...7,708,951
Ensembl chrNW_004955425:7,702,137...7,709,006
JBrowse link
G Mcidas multiciliate differentiation and DNA synthesis associated cell cycle protein ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:1523039 PMID:8813877 PMID:25048963 NCBI chrNW_004955446:12,438,737...12,445,254
Ensembl chrNW_004955446:12,438,737...12,445,254
JBrowse link
G Odad1 outer dynein arm docking complex subunit 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:23261302 PMID:23261303 PMID:25741868 PMID:28492532 NCBI chrNW_004955559:2,123,941...2,153,192
Ensembl chrNW_004955559:2,124,525...2,151,610
JBrowse link
G Odad2 outer dynein arm docking complex subunit 2 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:23806086 PMID:23849778 PMID:24088041 PMID:28492532 NCBI chrNW_004955462:1,709,493...1,885,094
Ensembl chrNW_004955462:1,709,493...1,884,900
JBrowse link
G Odad3 outer dynein arm docking complex subunit 3 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:25192045 PMID:25224326 PMID:25741868 NCBI chrNW_004955495:2,318,840...2,330,966
Ensembl chrNW_004955495:2,318,471...2,330,508
JBrowse link
G Polr2k RNA polymerase II, I and III subunit K ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24055112 NCBI chrNW_004955417:15,412,527...15,416,090
Ensembl chrNW_004955417:15,412,527...15,416,090
JBrowse link
G Rsph1 radial spoke head component 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:23993197 PMID:24033266 PMID:24518672 PMID:24568568 PMID:25741868 More... NCBI chrNW_004955407:39,266,888...39,284,972
Ensembl chrNW_004955407:39,266,888...39,284,972
JBrowse link
G Rsph3 radial spoke head 3 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:26073779 PMID:28492532 NCBI chrNW_004955439:3,510,076...3,533,924
Ensembl chrNW_004955439:3,509,395...3,534,392
JBrowse link
G Rsph4a radial spoke head component 4A ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:9536098 PMID:17576681 PMID:23798057 PMID:24824133 PMID:25741868 More... NCBI chrNW_004955436:30,638...43,581
Ensembl chrNW_004955436:27,902...43,704
JBrowse link
G Spag1 sperm associated antigen 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24055112 PMID:25741868 PMID:26228299 PMID:27637300 PMID:28492532 NCBI chrNW_004955417:15,417,604...15,482,650
Ensembl chrNW_004955417:15,421,737...15,481,797
JBrowse link
G Zmynd10 zinc finger MYND-type containing 10 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar PMID:23891469 PMID:23891471 PMID:25741868 PMID:28492532 NCBI chrNW_004955532:2,142,114...2,147,622
Ensembl chrNW_004955532:2,142,229...2,147,621
JBrowse link
Meckel syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp3 nephrocystin 3 ISO OMIM NCBI chrNW_004955501:5,799,879...5,837,022 JBrowse link
Renal-Hepatic-Pancreatic Dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp3 nephrocystin 3 ISO OMIM NCBI chrNW_004955501:5,799,879...5,837,022 JBrowse link
Renal-Hepatic-Pancreatic Dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nek8 NIMA related kinase 8 ISO OMIM NCBI chrNW_004955481:4,417,773...4,427,885
Ensembl chrNW_004955481:4,417,773...4,427,885
JBrowse link
retinitis pigmentosa with or without situs inversus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl2bp ADP ribosylation factor like GTPase 2 binding protein ISO OMIM NCBI chrNW_004955433:14,887,094...14,894,119 JBrowse link
Visceral Heterotaxy 5, Autosomal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif4ebp2 eukaryotic translation initiation factor 4E binding protein 2 ISO ClinVar Annotator: match by term: Visceral heterotaxy 5, autosomal ClinVar PMID:28492532 NCBI chrNW_004955437:20,844,750...20,879,874
Ensembl chrNW_004955437:20,844,750...20,879,885
JBrowse link
G Nodal nodal growth differentiation factor ISO OMIM NCBI chrNW_004955437:20,828,448...20,835,486
Ensembl chrNW_004955437:20,828,448...20,835,628
JBrowse link
G Pald1 phosphatase domain containing paladin 1 ISO ClinVar Annotator: match by term: Visceral heterotaxy 5, autosomal ClinVar PMID:28492532 NCBI chrNW_004955437:20,721,328...20,799,090
Ensembl chrNW_004955437:20,720,562...20,785,492
JBrowse link
G Prf1 perforin 1 ISO ClinVar Annotator: match by term: Visceral heterotaxy 5, autosomal ClinVar PMID:28492532 NCBI chrNW_004955437:20,700,912...20,705,076
Ensembl chrNW_004955437:20,700,718...20,706,929
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12762
    syndrome 6844
      visceral heterotaxy 73
        situs inversus 47
          Fraser Jequier Chen Syndrome 0
          Hypoglossia with Situs Inversus 0
          Jeune Syndrome Situs Inversus 0
          Levocardia 0
          Marfanoid Habitus with Situs Inversus 0
          Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas 0
          Visceral Heterotaxy 5, Autosomal 4
          dextrocardia + 36
          renal-hepatic-pancreatic dysplasia + 2
          retinitis pigmentosa with or without situs inversus 1
Path 2
Term Annotations click to browse term
  disease 12762
    disease of anatomical entity 12446
      Immune & Inflammatory Diseases 3176
        immune system disease 2729
          lymphatic system disease 1161
            splenic disease 105
              visceral heterotaxy 73
                situs inversus 47
                  Fraser Jequier Chen Syndrome 0
                  Hypoglossia with Situs Inversus 0
                  Jeune Syndrome Situs Inversus 0
                  Levocardia 0
                  Marfanoid Habitus with Situs Inversus 0
                  Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas 0
                  Visceral Heterotaxy 5, Autosomal 4
                  dextrocardia + 36
                  renal-hepatic-pancreatic dysplasia + 2
                  retinitis pigmentosa with or without situs inversus 1
paths to the root