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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.



show annotations for term's descendants           Sort by:
 
situs inversus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvr2b activin receptor IIB ISO CTD Direct Evidence: marker/mechanism CTD PMID:9916847 NCBI chr 9:119,401,583...119,442,148
Ensembl chr 9:119,402,118...119,434,995
JBrowse link
G Anks6 ankyrin repeat and sterile alpha motif domain containing 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23793029 NCBI chr 4:47,015,365...47,057,327
Ensembl chr 4:47,015,669...47,057,427
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 chr11:67,924,806...67,965,669
Ensembl chr11:67,924,806...67,965,651
JBrowse link
G Nodal nodal ISS OMIM:270100 MouseDO NCBI chr10:61,417,972...61,425,338
Ensembl chr10:61,417,972...61,425,338
JBrowse link
G Nphp3 nephronophthisis 3 (adolescent) IMP RGD PMID:18371931 RGD:11352488 NCBI chr 9:104,002,544...104,043,811
Ensembl chr 9:104,002,544...104,043,818
JBrowse link
G Pkd1l1 polycystic kidney disease 1 like 1 ISO ClinVar Annotator: match by term: Situs inversus totalis ClinVar PMID:27616478 NCBI chr11:8,825,696...8,974,709
Ensembl chr11:8,826,708...8,973,266
JBrowse link
G Zic3 zinc finger protein of the cerebellum 3 ISO X-linked visceral heterotaxy, OMIM:306955 RGD PMID:9354794 RGD:1599909 NCBI chr  X:58,030,628...58,036,630
Ensembl chr  X:58,022,700...58,041,736
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 zinc finger protein of the cerebellum 3 ISO ClinVar Annotator: match by OMIM:306955
ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked
ClinVar Annotator: match by term: Heterotaxy, visceral, X-linked
ClinVar Annotator: match by term: Congenital heart defects, multiple types, 1, X-linked
ClinVar Annotator: match by term: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED
ClinVar
OMIM
PMID:2629409 PMID:3674105 PMID:9354794 PMID:10980576 PMID:14681828 More... NCBI chr  X:58,030,628...58,036,630
Ensembl chr  X:58,022,700...58,041,736
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 chr18:74,283,100...74,359,984
Ensembl chr18:74,283,090...74,359,986
JBrowse link
G Myrf myelin regulatory factor ISO ClinVar Annotator: match by term: Dextrocardia ClinVar PMID:25741868 PMID:30532227 NCBI chr19:10,208,271...10,240,777
Ensembl chr19:10,208,272...10,240,748
JBrowse link
G Rai2 retinoic acid induced 2 ISO ClinVar Annotator: match by term: Dextrocardia ClinVar NCBI chr  X:161,717,036...161,779,494
Ensembl chr  X:161,717,069...161,779,496
JBrowse link
G Rock2 Rho-associated coiled-coil containing protein kinase 2 ISO ClinVar Annotator: match by term: Dextrocardia ClinVar NCBI chr12:16,894,978...16,988,274
Ensembl chr12:16,894,895...16,987,823
JBrowse link
G Supt16 SPT16, facilitates chromatin remodeling subunit ISO ClinVar Annotator: match by term: Dextrocardia ClinVar NCBI chr14:52,160,419...52,197,239
Ensembl chr14:52,160,414...52,197,416
JBrowse link
G Zfyve16 zinc finger, FYVE domain containing 16 ISO ClinVar Annotator: match by term: Dextrocardia ClinVar NCBI chr13:92,487,749...92,530,810
Ensembl chr13:92,487,108...92,530,868
JBrowse link
G Zic3 zinc finger protein of the cerebellum 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17127413 NCBI chr  X:58,030,628...58,036,630
Ensembl chr  X:58,022,700...58,041,736
JBrowse link
Kartagener syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1b1 adaptor protein complex AP-1, beta 1 subunit IEA MouseDO NCBI chr11:4,947,320...5,042,794
Ensembl chr11:4,986,824...5,042,791
JBrowse link
G Ccdc103 coiled-coil domain containing 103 ISO ClinVar Annotator: match by term: Kartagener syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22581229 PMID:23891469 PMID:24033266 PMID:24357714 PMID:25326635 More... NCBI chr11:102,881,224...102,885,216
Ensembl chr11:102,881,204...102,885,216
JBrowse link
G Ccdc39 coiled-coil domain containing 39 IEA MouseDO NCBI chr 3:33,810,757...33,844,325
Ensembl chr 3:33,812,362...33,844,310
JBrowse link
G Ccdc40 coiled-coil domain containing 40 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar Annotator: match by term: Kartagener syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:21131974 PMID:22693285 PMID:23255504 PMID:28492532 PMID:31443223 NCBI chr11:119,228,490...119,265,248
Ensembl chr11:119,228,572...119,265,238
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 chr13:112,987,802...112,990,778
Ensembl chr13:112,987,802...112,990,777
JBrowse link
G Cfap298 cilia and flagella associate protien 298 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24094744 PMID:28492532 NCBI chr16:90,925,811...90,934,849
Ensembl chr16:90,925,809...90,935,114
JBrowse link
G Daw1 dynein assembly factor with WDR repeat domains 1 IEA MouseDO NCBI chr 1:83,159,742...83,210,577
Ensembl chr 1:83,159,752...83,210,574
JBrowse link
G Dnaaf1 dynein, axonemal assembly factor 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:19944400 PMID:19944405 NCBI chr 8:119,575,235...119,598,454
Ensembl chr 8:119,575,235...119,598,454
JBrowse link
G Dnaaf2 dynein, axonemal assembly factor 2 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:19052621 PMID:24498942 NCBI chr12:69,189,087...69,200,083
Ensembl chr12:69,189,087...69,198,429
JBrowse link
G Dnaaf3 dynein, axonemal assembly factor 3 ISO
IEA
ClinVar Annotator: match by term: Kartagener syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
PMID:10745040 PMID:22387996 PMID:28492532 NCBI chr 7:4,522,933...4,532,488
Ensembl chr 7:4,522,933...4,532,453
JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23872636 NCBI chr 9:72,957,372...72,973,689
Ensembl chr 9:72,958,785...72,973,064
JBrowse link
G Dnah1 dynein, axonemal, heavy chain 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:25927852 NCBI chr14:31,260,375...31,325,891
Ensembl chr14:31,260,375...31,323,896
JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 susceptibility IEA
ISO
DNA:nonsense mutation, missense mutation:R2852X, R3004Q MouseDO
RGD
PMID:12142464 RGD:734893 NCBI chr12:117,877,982...118,199,043
Ensembl chr12:117,877,982...118,199,043
JBrowse link
G Dnah5 dynein, axonemal, heavy chain 5 susceptibility ISO
IEA
DNA:mutations
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
MouseDO
RGD
PMID:11788826 PMID:16627867 PMID:19357118 PMID:19630565 PMID:23477994 More... RGD:1601080 NCBI chr15:28,154,854...28,472,045
Ensembl chr15:28,203,752...28,472,052
JBrowse link
G Dnah8 dynein, axonemal, heavy chain 8 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24307375 NCBI chr17:30,626,935...30,875,762
Ensembl chr17:30,624,354...30,877,365
JBrowse link
G Dnai1 dynein axonemal intermediate chain 1 susceptibility ISO
IEA
DNA:missense mutation, insertion, deletion:exon, intron:p.G515S
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar Annotator: match by term: Primary ciliary dyskinesia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:244400
ClinVar
MouseDO
CTD
RGD
PMID:10577904 PMID:11231901 PMID:16199547 PMID:16858015 PMID:18434704 More... RGD:1601083 NCBI chr 4:41,569,647...41,638,158
Ensembl chr 4:41,569,775...41,638,158
JBrowse link
G Dnai2 dynein axonemal intermediate chain 2 ISO
IEA
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
MouseDO
PMID:9536098 PMID:17576681 PMID:18950741 PMID:28492532 NCBI chr11:114,721,341...114,757,889
Ensembl chr11:114,727,408...114,757,889
JBrowse link
G Dnal1 dynein, axonemal, light chain 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:21496787 NCBI chr12:84,114,279...84,143,517
Ensembl chr12:84,114,366...84,147,498
JBrowse link
G Drc1 dynein regulatory complex subunit 1 ISO
IEA
ClinVar Annotator: match by term: Kartagener syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
PMID:12746204 PMID:23354437 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:30,281,335...30,366,695
Ensembl chr 5:30,281,388...30,366,695
JBrowse link
G Foxj1 forkhead box J1 IEA MouseDO NCBI chr11:116,330,704...116,335,499
Ensembl chr11:116,330,704...116,335,399
JBrowse link
G Gm572 predicted gene 572 IEA MouseDO NCBI chr 4:148,643,317...148,677,105
Ensembl chr 4:148,643,317...148,671,572
JBrowse link
G Hydin HYDIN, axonemal central pair apparatus protein ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:14985390 PMID:23022101 NCBI chr 8:110,266,968...110,610,253
Ensembl chr 8:110,266,977...110,610,253
JBrowse link
G Lrrc6 leucine rich repeat containing 6 (testis) ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:23122589 PMID:23891469 PMID:24307375 PMID:28492532 NCBI chr15:66,379,858...66,500,921
Ensembl chr15:66,379,858...66,500,910
JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 severity ISO DNA:haplotype:promoter: RGD PMID:24753481 RGD:11250592 NCBI chr19:30,232,906...30,239,687
Ensembl chr19:30,232,942...30,239,687
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 chr13:112,993,581...113,000,394
Ensembl chr13:112,993,845...113,000,394
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 chr 7:45,923,159...45,948,963
Ensembl chr 7:45,924,072...45,948,963
JBrowse link
G Odad2 outer dynein arm docking complex subunit 2 IEA
ISO
ClinVar Annotator: match by term: Kartagener syndrome MouseDO
ClinVar
PMID:23806086 PMID:23849778 PMID:24088041 PMID:28492532 NCBI chr18:7,088,233...7,298,273
Ensembl chr18:7,088,209...7,297,936
JBrowse link
G Odad3 outer dynein arm docking complex subunit 3 ISO
IEA
ClinVar Annotator: match by term: Kartagener syndrome ClinVar
MouseDO
PMID:25192045 PMID:25224326 PMID:25741868 NCBI chr 9:21,989,871...22,002,972
Ensembl chr 9:21,989,871...22,002,634
JBrowse link
G Polr2k polymerase (RNA) II (DNA directed) polypeptide K ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24055112 NCBI chr15:36,174,010...36,177,012
Ensembl chr15:36,174,010...36,177,010
JBrowse link
G Rsph1 radial spoke head 1 homolog (Chlamydomonas) ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:23993197 PMID:24033266 PMID:24518672 PMID:24568568 PMID:25741868 More... NCBI chr17:31,255,019...31,277,296
Ensembl chr17:31,255,019...31,277,383
JBrowse link
G Rsph3a radial spoke 3A homolog (Chlamydomonas) ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:26073779 PMID:28492532 NCBI chr17:7,945,614...7,979,556
Ensembl chr17:7,945,614...7,979,824
JBrowse link
G Rsph4a radial spoke head 4 homolog A (Chlamydomonas) ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:9536098 PMID:17576681 PMID:23798057 PMID:24824133 PMID:25741868 More... NCBI chr10:33,905,111...33,916,021
Ensembl chr10:33,905,111...33,916,021
JBrowse link
G Slit2 slit guidance ligand 2 IEA MouseDO NCBI chr 5:47,981,291...48,307,735
Ensembl chr 5:47,983,138...48,307,733
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 chr15:36,176,229...36,235,621
Ensembl chr15:36,178,099...36,235,621
JBrowse link
G Zmynd10 zinc finger, MYND domain 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 chr 9:107,546,872...107,551,321
Ensembl chr 9:107,547,298...107,551,319
JBrowse link
Meckel syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp3 nephronophthisis 3 (adolescent) ISO ClinVar Annotator: match by term: Meckel syndrome type 7 OMIM
ClinVar
PMID:9536098 PMID:12872122 PMID:16199547 PMID:17576681 PMID:17855640 More... NCBI chr 9:104,002,544...104,043,811
Ensembl chr 9:104,002,544...104,043,818
JBrowse link
renal-hepatic-pancreatic dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nek8 NIMA (never in mitosis gene a)-related expressed kinase 8 ISS OMIM:208540 | OMIM:615415 MouseDO NCBI chr11:78,166,106...78,176,695
Ensembl chr11:78,166,106...78,176,675
JBrowse link
G Nphp3 nephronophthisis 3 (adolescent) ISS OMIM:208540 | OMIM:615415 MouseDO NCBI chr 9:104,002,544...104,043,811
Ensembl chr 9:104,002,544...104,043,818
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 nephronophthisis 3 (adolescent) ISO ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 1 OMIM
ClinVar
PMID:8874114 PMID:9536098 PMID:12872122 PMID:16199547 PMID:17576681 More... NCBI chr 9:104,002,544...104,043,811
Ensembl chr 9:104,002,544...104,043,818
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 (never in mitosis gene a)-related expressed kinase 8 ISO ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 2 OMIM
ClinVar
PMID:19550299 PMID:23418306 PMID:25741868 PMID:25741876 PMID:26697755 More... NCBI chr11:78,166,106...78,176,695
Ensembl chr11:78,166,106...78,176,675
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 2 binding protein ISO
IEA
ClinVar Annotator: match by term: Retinitis pigmentosa 82 with or without situs inversus
OMIM:615434
ClinVar Annotator: match by OMIM:615434
OMIM
ClinVar
MouseDO
PMID:23849777 PMID:27790702 PMID:28492532 NCBI chr 8:94,666,600...94,674,457
Ensembl chr 8:94,666,600...94,674,425
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 chr10:61,428,491...61,452,790
Ensembl chr10:61,428,491...61,452,661
JBrowse link
G Nodal nodal ISO ClinVar Annotator: match by term: Visceral heterotaxy 5, autosomal
ClinVar Annotator: match by OMIM:270100
OMIM
ClinVar
PMID:9354794 PMID:9536098 PMID:17576681 PMID:19064609 PMID:19553149 More... NCBI chr10:61,417,972...61,425,338
Ensembl chr10:61,417,972...61,425,338
JBrowse link
G Pald1 phosphatase domain containing, paladin 1 ISO ClinVar Annotator: match by term: Visceral heterotaxy 5, autosomal ClinVar PMID:28492532 NCBI chr10:61,319,656...61,383,546
Ensembl chr10:61,319,656...61,383,530
JBrowse link
G Prf1 perforin 1 (pore forming protein) ISO ClinVar Annotator: match by term: Visceral heterotaxy 5, autosomal ClinVar PMID:28492532 NCBI chr10:61,297,751...61,304,684
Ensembl chr10:61,297,833...61,304,680
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14541
    syndrome 7681
      visceral heterotaxy 97
        situs inversus 53
          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 + 42
          renal-hepatic-pancreatic dysplasia + 2
          retinitis pigmentosa with or without situs inversus 1
Path 2
Term Annotations click to browse term
  disease 14541
    disease of anatomical entity 14141
      Immune & Inflammatory Diseases 3631
        immune system disease 3077
          lymphatic system disease 1306
            splenic disease 142
              visceral heterotaxy 97
                situs inversus 53
                  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 + 42
                  renal-hepatic-pancreatic dysplasia + 2
                  retinitis pigmentosa with or without situs inversus 1
paths to the root