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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 congenital abnormality in which organs in the THORAX and the ABDOMEN are opposite to their normal positions (situs solitus) due to lateral transposition. Normally the STOMACH and SPLEEN are on the left, LIVER on the right, the three-lobed right lung is on the right, and the two-lobed left lung on the left. Situs inversus has a familial pattern and has been associated with a number of genes related to microtubule-associated proteins.
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 A receptor type 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:9916847 NCBI chr 8:128,087,308...128,126,776
Ensembl chr 8:128,087,345...128,118,746
JBrowse link
G Anks6 ankyrin repeat and sterile alpha motif domain containing 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23793029 NCBI chr 5:62,642,974...62,684,387
Ensembl chr 5:62,640,645...62,683,964
JBrowse link
G Cfap52 cilia and flagella associated protein 52 ISO ClinVar Annotator: match by term: Situs inversus totalis ClinVar PMID:28492532 NCBI chr10:54,470,834...54,512,157
Ensembl chr10:54,470,835...54,512,169
JBrowse link
G Nodal nodal growth differentiation factor ISS OMIM:270100 MouseDO NCBI chr20:31,035,729...31,044,096
Ensembl chr20:31,035,729...31,044,096
JBrowse link
G Nphp3 nephrocystin 3 ISO RGD PMID:18371931 RGD:11352488 NCBI chr 8:112,526,553...112,575,745
Ensembl chr 8:112,526,553...112,575,745
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 chr14:89,047,949...89,193,579
Ensembl chr14:89,060,447...89,179,507
JBrowse link
G Zic3 Zic family member 3 ISO X-linked visceral heterotaxy, OMIM:306955 RGD PMID:9354794 RGD:1599909 NCBI chr  X:140,875,191...140,888,344
Ensembl chr  X:140,878,216...140,888,795
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 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 PMID:17295247 PMID:17764085 PMID:18716025 PMID:23427188 PMID:23872418 PMID:24033266 PMID:24123890 PMID:25741868 PMID:26294094 PMID:28492532 NCBI chr  X:140,875,191...140,888,344
Ensembl chr  X:140,878,216...140,888,795
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 chr18:70,263,290...70,330,420
Ensembl chr18:70,263,359...70,329,907
JBrowse link
G Myrf myelin regulatory factor ISO ClinVar Annotator: match by term: Dextrocardia ClinVar PMID:25741868 PMID:30532227 NCBI chr 1:226,260,558...226,292,650
Ensembl chr 1:226,260,558...226,292,480
JBrowse link
G Rai2 retinoic acid induced 2 ISO ClinVar Annotator: match by term: Dextrocardia ClinVar NCBI chr  X:34,731,891...34,794,589
Ensembl chr  X:34,731,891...34,794,589
JBrowse link
G Rock2 Rho-associated coiled-coil containing protein kinase 2 ISO ClinVar Annotator: match by term: Dextrocardia ClinVar NCBI chr 6:42,180,864...42,289,910
Ensembl chr 6:42,180,894...42,289,908
JBrowse link
G Supt16h SPT16 homolog, facilitates chromatin remodeling subunit ISO ClinVar Annotator: match by term: Dextrocardia ClinVar NCBI chr15:28,574,841...28,611,959
Ensembl chr15:28,575,480...28,611,946
JBrowse link
G Zfyve16 zinc finger FYVE-type containing 16 ISO ClinVar Annotator: match by term: Dextrocardia ClinVar NCBI chr 2:22,060,879...22,105,822
Ensembl chr 2:22,062,050...22,105,710
JBrowse link
G Zic3 Zic family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17127413 NCBI chr  X:140,875,191...140,888,344
Ensembl chr  X:140,878,216...140,888,795
JBrowse link
Kartagener syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1b1 adaptor related protein complex 1 subunit beta 1 ISS MouseDO NCBI chr14:85,230,652...85,281,806
Ensembl chr14:85,230,648...85,281,803
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 PMID:25741868 PMID:26123568 PMID:27637300 PMID:28492532 PMID:28790179 NCBI chr10:90,984,213...90,987,829
Ensembl chr10:90,984,227...90,987,823
JBrowse link
G Ccdc39 coiled-coil domain containing 39 ISS MouseDO NCBI chr 2:120,278,605...120,367,829
Ensembl chr 2:120,278,605...120,316,600
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:28492532 PMID:31443223 NCBI chr10:108,055,270...108,393,408
Ensembl chr10:108,340,240...108,372,862
JBrowse link
G Ccno cyclin O ISO ClinVar Annotator: match by term: Kartagener syndrome
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar PMID:24747639 PMID:28492532 NCBI chr 2:44,857,043...44,860,317
Ensembl chr 2:44,857,213...44,860,315
JBrowse link
G Cfap298 cilia and flagella associated protein 298 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24094744 PMID:28492532 NCBI chr11:31,094,103...31,103,487
Ensembl chr11:31,094,084...31,103,520
JBrowse link
G Daw1 dynein assembly factor with WD repeats 1 ISS MouseDO NCBI chr 9:88,964,530...89,001,568
Ensembl chr 9:88,964,525...89,001,567
JBrowse link
G Dnaaf1 dynein, axonemal, assembly factor 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:19944400 PMID:19944405 NCBI chr19:52,217,427...52,245,930
Ensembl chr19:52,217,984...52,245,929
JBrowse link
G Dnaaf11 dynein axonemal assembly factor 11 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:23891469 PMID:24307375 PMID:28492532 NCBI chr 7:107,130,402...107,231,507
Ensembl chr 7:107,130,402...107,223,047
JBrowse link
G Dnaaf2 dynein, axonemal, assembly factor 2 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:19052621 PMID:24498942 NCBI chr 6:91,481,439...91,490,189
Ensembl chr 6:91,481,954...91,490,366
JBrowse link
G Dnaaf3 dynein, axonemal, assembly factor 3 ISO ClinVar Annotator: match by term: Kartagener syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:10745040 PMID:22387996 PMID:28492532 NCBI chr 1:72,874,131...72,882,867
Ensembl chr 1:72,874,404...72,883,002
JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23872636 NCBI chr 8:79,637,678...79,651,892
Ensembl chr 8:79,638,696...79,651,884
JBrowse link
G Dnah1 dynein, axonemal, heavy chain 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:25927852 NCBI chr16:7,345,131...7,407,009
Ensembl chr16:7,345,978...7,408,265
JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 susceptibility ISO
ISS
DNA:nonsense mutation, missense mutation: :R2852X, R3004Q MouseDO PMID:12142464 RGD:734893 NCBI chr 6:145,784,893...146,099,212
Ensembl chr 6:145,785,275...146,099,053
JBrowse link
G Dnah5 dynein, axonemal, heavy chain 5 susceptibility ISO
ISS
DNA:mutations
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
MouseDO
PMID:19357118 PMID:19630565 PMID:23477994 PMID:28492532, PMID:11788826 RGD:1601080 NCBI chr 2:80,947,730...81,143,997
NCBI chr 2:81,159,060...81,337,560
Ensembl chr 2:80,948,658...81,143,447
JBrowse link
G Dnah8 dynein, axonemal, heavy chain 8 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24307375 NCBI chr20:9,301,317...9,560,805
Ensembl chr20:9,313,271...9,560,682
JBrowse link
G Dnai1 dynein, axonemal, intermediate chain 1 susceptibility ISO 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
CTD
PMID:10577904 PMID:11231901 PMID:16858015 PMID:18434704 PMID:19675306 PMID:21143860 PMID:21270641 PMID:22416021 PMID:23477994 PMID:24033266 PMID:24498942 PMID:24912412 PMID:25741868 PMID:25802884 PMID:26918822 PMID:28492532 PMID:28939216 PMID:29363216, PMID:11231901 RGD:1601083 NCBI chr 5:57,947,796...58,017,985
Ensembl chr 5:57,947,716...58,017,992
JBrowse link
G Dnai2 dynein, axonemal, intermediate chain 2 ISO
ISS
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
MouseDO
PMID:18950741 NCBI chr10:103,266,343...103,301,521
Ensembl chr10:103,266,296...103,301,544
JBrowse link
G Dnal1 dynein, axonemal, light chain 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:21496787 NCBI chr 6:107,596,785...107,623,869
Ensembl chr 6:107,596,782...107,625,214
JBrowse link
G Drc1 dynein regulatory complex subunit 1 ISO ClinVar Annotator: match by term: Kartagener syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12746204 PMID:23354437 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:27,425,237...27,460,038
Ensembl chr 6:27,425,235...27,460,038
JBrowse link
G Foxj1 forkhead box J1 ISS MouseDO NCBI chr10:105,282,090...105,289,396 JBrowse link
G Hydin Hydin, axonemal central pair apparatus protein ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:14985390 PMID:23022101 NCBI chr19:41,036,507...41,379,634
Ensembl chr19:41,036,510...41,379,588
JBrowse link
G LOC691354 hypothetical protein LOC691354 ISS MouseDO NCBI chr 5:165,464,832...165,491,375
Ensembl chr 5:165,465,095...165,481,914
JBrowse link
G Mbl2 mannose binding lectin 2 severity ISO DNA:haplotype:promoter: RGD PMID:24753481 RGD:11250592 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
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 chr 2:44,863,246...44,869,732
Ensembl chr 2:44,863,252...44,870,536
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 1:101,904,042...101,932,999
Ensembl chr 1:101,906,903...101,932,998
JBrowse link
G Odad2 outer dynein arm docking complex subunit 2 ISS
ISO
ClinVar Annotator: match by term: Kartagener syndrome MouseDO
ClinVar
PMID:23806086 PMID:23849778 PMID:24088041 PMID:28492532 NCBI chr17:60,283,926...60,474,289
Ensembl chr17:60,287,203...60,474,031
JBrowse link
G Odad3 outer dynein arm docking complex subunit 3 ISO
ISS
ClinVar Annotator: match by term: Kartagener syndrome ClinVar
MouseDO
PMID:25192045 PMID:25224326 NCBI chr 8:23,000,912...23,014,707
Ensembl chr 8:23,000,872...23,014,499
JBrowse link
G Polr2k RNA polymerase II, I and III subunit K ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24055112 NCBI chr 7:74,939,010...74,992,594
Ensembl chr 7:74,989,223...74,992,582
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:26139845 PMID:28492532 NCBI chr20:9,998,698...10,020,719
Ensembl chr20:9,998,701...10,013,559
JBrowse link
G Rsph3 radial spoke head 3 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:26073779 PMID:28492532 NCBI chr 1:47,412,151...47,478,924
Ensembl chr 1:47,426,258...47,477,524
JBrowse link
G Rsph4a radial spoke head component 4A ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:23798057 PMID:24824133 PMID:25741868 PMID:28492532 NCBI chr20:32,450,701...32,467,362
Ensembl chr20:32,450,733...32,467,194
Ensembl chr20:32,450,733...32,467,194
JBrowse link
G Slit2 slit guidance ligand 2 ISS MouseDO NCBI chr14:66,831,848...67,171,491
Ensembl chr14:66,831,848...67,170,361
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 chr 7:74,994,379...75,054,294
Ensembl chr 7:74,994,605...75,054,293
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 chr 8:116,302,513...116,306,871
Ensembl chr 8:116,302,513...116,306,870
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 ClinVar Annotator: match by term: Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia
ClinVar Annotator: match by term: Meckel syndrome type 7
OMIM
ClinVar
PMID:12872122 PMID:17855640 PMID:18371931 PMID:20007846 PMID:23188109 PMID:23559409 PMID:24033266 PMID:25741868 PMID:26184788 PMID:26673778 PMID:27894351 PMID:28492532 NCBI chr 8:112,526,553...112,575,745
Ensembl chr 8:112,526,553...112,575,745
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-related kinase 8 ISS OMIM:208540 | OMIM:615415 MouseDO NCBI chr10:65,404,489...65,439,059
Ensembl chr10:65,425,771...65,437,143
JBrowse link
G Nphp3 nephrocystin 3 ISS OMIM:208540 | OMIM:615415 MouseDO NCBI chr 8:112,526,553...112,575,745
Ensembl chr 8:112,526,553...112,575,745
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 ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 1 OMIM
ClinVar
PMID:8874114 PMID:12872122 PMID:17855640 PMID:18371931 PMID:20007846 PMID:23188109 PMID:23559409 PMID:24033266 PMID:25741868 PMID:26184788 PMID:26673778 PMID:27894351 PMID:28492532 PMID:28991257 NCBI chr 8:112,526,553...112,575,745
Ensembl chr 8:112,526,553...112,575,745
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 ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 2 OMIM
ClinVar
PMID:19550299 PMID:23418306 PMID:25741868 PMID:26697755 PMID:26862157 PMID:26967905 PMID:28492532 NCBI chr10:65,404,489...65,439,059
Ensembl chr10:65,425,771...65,437,143
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 ClinVar Annotator: match by term: Retinitis pigmentosa 82 with or without situs inversus
ClinVar Annotator: match by OMIM:615434
OMIM
ClinVar
PMID:23849777 PMID:27790702 PMID:28492532 NCBI chr19:10,753,670...10,763,247
Ensembl chr19:10,753,681...10,763,110
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 chr20:31,055,292...31,072,469
Ensembl chr20:31,055,789...31,072,469
JBrowse link
G Nodal nodal growth differentiation factor ISO ClinVar Annotator: match by term: Visceral heterotaxy 5, autosomal
ClinVar Annotator: match by OMIM:270100
OMIM
ClinVar
PMID:9354794 PMID:19064609 PMID:19553149 PMID:22352765 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr20:31,035,729...31,044,096
Ensembl chr20:31,035,729...31,044,096
JBrowse link
G Pald1 phosphatase domain containing, paladin 1 ISO ClinVar Annotator: match by term: Visceral heterotaxy 5, autosomal ClinVar PMID:28492532 NCBI chr20:30,938,901...30,983,907
Ensembl chr20:30,938,901...30,975,472
JBrowse link
G Prf1 perforin 1 ISO ClinVar Annotator: match by term: Visceral heterotaxy 5, autosomal ClinVar PMID:28492532 NCBI chr20:30,915,294...30,920,804
Ensembl chr20:30,915,213...30,921,382
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    syndrome 7057
      visceral heterotaxy 91
        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 16122
    disease of anatomical entity 15369
      Immune & Inflammatory Diseases 3588
        immune system disease 2957
          lymphatic system disease 1103
            splenic disease 131
              visceral heterotaxy 91
                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