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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:visceral heterotaxy
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Accession:DOID:0050545 term browser browse the term
Definition:Abnormal thoracoabdominal VISCERA arrangement (visceral heterotaxy) or malformation that involves additional CONGENITAL HEART DEFECTS (e.g., heart isomerism; DEXTROCARDIA) and/or abnormal SPLEEN (e.g., asplenia and polysplenia). Irregularities with the central nervous system, the skeleton and urinary tract are often associated with the syndrome.
Synonyms:exact_synonym: HETEROTAXIA SYNDROME;   Left Atrial Isomerism;   Left Atrial Isomerism with Polysplenia;   Left Atrial Isomerisms;   Polysplenia Syndrome;   Polysplenia Syndromes;   RAI;   Situs Ambiguus;   Situs Ambiguus Viscerum;   asplenia syndrome;   asplenia syndromes;   asplenia with cardiovascular anomalies;   bilateral right-sidedness sequence;   heterotaxia;   heterotaxy syndrome;   heterotaxy syndromes;   situs ambiguus viscerums;   situs ambiguus with asplenia;   situs ambiguus with polysplenia;   visceral heterotaxies
 narrow_synonym: HETEROTAXY, VISCEROATRIAL, AUTOSOMAL RECESSIVE;   POLYASPLENIA;   VAH, autosomal recessive
 primary_id: MESH:D059446
 alt_id: OMIM:208530
 xref: GARD:10875;   OMIM:PS306955;   ORDO:450
For additional species annotation, visit the Alliance of Genome Resources.


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visceral heterotaxy 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
ClinVar Annotator: match by term: Heterotaxy syndrome
CTD
ClinVar
PMID:9916847 NCBI chr 8:119,138,901...119,178,477
Ensembl chr 8:119,138,812...119,170,458
JBrowse link
G Anks6 ankyrin repeat and sterile alpha motif domain containing 6 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 5:61,309,183...61,350,596
Ensembl chr 5:61,309,183...61,350,596
JBrowse link
G Ap1b1 adaptor related protein complex 1 subunit beta 1 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr14:79,879,482...79,930,778
Ensembl chr14:79,879,533...79,930,778
JBrowse link
G Bicc1 BicC family RNA binding protein 1 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr20:17,449,644...17,686,775
Ensembl chr20:17,449,560...17,686,776
JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
JBrowse link
G Ccdc39 coiled-coil domain containing 39 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 2:116,665,261...116,703,364
Ensembl chr 2:116,665,261...116,703,350
JBrowse link
G Cep290 centrosomal protein 290 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 7:35,310,071...35,399,392
Ensembl chr 7:35,310,199...35,399,392
JBrowse link
G Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Heterotaxy syndrome
ClinVar Annotator: match by term: Bilateral right-sidedness sequence
ClinVar Annotator: match by term: Heterotaxia
ClinVar Annotator: match by term: Asplenia syndrome
ClinVar PMID:14648004 PMID:17924340 PMID:20413652 PMID:25741868 PMID:28492532 More... NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,104,466...19,112,519
JBrowse link
G Cfap53 cilia and flagella associated protein 53 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr18:67,884,651...67,955,873
Ensembl chr18:67,869,855...67,952,318
JBrowse link
G Cfc1 cripto, FRL-1, cryptic family 1 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 9:36,742,106...36,751,931
Ensembl chr 9:36,739,071...36,751,930
JBrowse link
G Cplane2 ciliogenesis and planar polarity effector 2 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 5:153,515,507...153,516,455
Ensembl chr 5:153,515,376...153,522,508
JBrowse link
G Daw1 dynein assembly factor with WD repeats 1 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 9:84,435,552...84,472,632
Ensembl chr 9:84,435,552...84,472,635
JBrowse link
G Dnaaf3 dynein, axonemal, assembly factor 3 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 1:69,291,300...69,299,365
Ensembl chr 1:69,291,454...69,299,344
JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536
JBrowse link
G Dnah5 dynein, axonemal, heavy chain 5 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 2:78,937,788...79,255,551
Ensembl chr 2:78,937,800...79,254,890
JBrowse link
G Dnai1 dynein, axonemal, intermediate chain 1 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925
JBrowse link
G Drc1 dynein regulatory complex subunit 1 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 6:26,025,004...26,059,438
Ensembl chr 6:26,025,005...26,059,414
JBrowse link
G Foxh1 forkhead box H1 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 7:108,387,969...108,391,566
Ensembl chr 7:108,387,969...108,390,049
JBrowse link
G Foxp1 forkhead box P1 ISO ClinVar Annotator: match by term: Heterotaxia ClinVar PMID:25741868 NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258
JBrowse link
G Gdf1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Bilateral right-sidedness sequence
ClinVar Annotator: match by term: Heterotaxia
ClinVar Annotator: match by term: Asplenia syndrome
ClinVar Annotator: match by term: Heterotaxy syndrome
OMIM
ClinVar
PMID:14648004 PMID:17924340 PMID:20413652 PMID:25741868 PMID:28492532 More... NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,097,314...19,112,519
JBrowse link
G Ift74 intraflagellar transport 74 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 5:109,460,372...109,563,839
Ensembl chr 5:109,474,255...109,563,833
JBrowse link
G LOC690352 hypothetical protein LOC690352 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr14:97,493,579...97,496,697
Ensembl chr14:97,493,658...97,496,679
JBrowse link
G LOC691354 hypothetical protein LOC691354 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 5:159,075,217...159,110,642
Ensembl chr 5:159,075,343...159,105,369
JBrowse link
G Megf8 multiple EGF-like-domains 8 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 1:80,902,236...80,951,614
Ensembl chr 1:80,902,574...80,951,613
JBrowse link
G Mmp21 matrix metallopeptidase 21 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Heterotaxia
CTD
ClinVar
PMID:24033266 PMID:26437028 NCBI chr 1:188,480,186...188,485,855
Ensembl chr 1:188,480,186...188,485,855
JBrowse link
G Nodal nodal growth differentiation factor ISO ClinVar Annotator: match by term: Heterotaxy syndrome
ClinVar Annotator: match by term: heterotaxia syndrome
ClinVar PMID:19064609 PMID:25741868 PMID:28492532 NCBI chr20:29,368,436...29,376,837
Ensembl chr20:29,368,436...29,376,837
JBrowse link
G Odad2 outer dynein arm docking complex subunit 2 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr17:55,216,877...55,409,872
Ensembl chr17:55,218,991...55,409,399
JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 1:214,837,847...215,267,626
Ensembl chr 1:214,837,927...215,267,600
JBrowse link
G Pkd1l1 polycystin 1 like 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Heterotaxia ClinVar NCBI chr14:83,552,964...83,670,062
Ensembl chr14:83,545,469...83,638,498
JBrowse link
G Psme4 proteasome activator subunit 4 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr14:104,505,716...104,609,410
Ensembl chr14:104,505,716...104,609,408
JBrowse link
G Rfx3 regulatory factor X3 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 1:225,449,872...225,709,622
Ensembl chr 1:225,456,187...225,709,402
JBrowse link
G Slit2 slit guidance ligand 2 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr14:62,616,337...62,955,934
Ensembl chr14:62,617,067...62,955,948
JBrowse link
G Tbc1d32 TBC1 domain family, member 32 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr20:35,359,865...35,590,992
Ensembl chr20:35,359,863...35,590,415
JBrowse link
G Tdgf1 teratocarcinoma-derived growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11062482 NCBI chr 8:110,924,774...110,938,545
Ensembl chr 8:110,925,024...110,930,308
JBrowse link
G Tmem67 transmembrane protein 67 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
JBrowse link
G Zic3 Zic family member 3 ISS OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779 MouseDO NCBI chr  X:136,123,662...136,134,295
Ensembl chr  X:136,124,026...136,134,746
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 More... NCBI chr  X:136,123,662...136,134,295
Ensembl chr  X:136,124,026...136,134,746
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 chr18:67,884,651...67,955,873
Ensembl chr18:67,869,855...67,952,318
JBrowse link
G Myrf myelin regulatory factor ISO ClinVar Annotator: match by term: Dextrocardia ClinVar PMID:25741868 PMID:30532227 NCBI chr 1:206,854,175...206,886,276
Ensembl chr 1:206,854,175...206,886,157
JBrowse link
G Rai2 retinoic acid induced 2 ISO ClinVar Annotator: match by term: Dextrocardia ClinVar NCBI chr  X:32,948,656...33,011,222
Ensembl chr  X:32,948,656...33,011,264
JBrowse link
G Rock2 Rho-associated coiled-coil containing protein kinase 2 ISO ClinVar Annotator: match by term: Dextrocardia ClinVar NCBI chr 6:39,679,116...39,774,033
Ensembl chr 6:39,679,082...39,774,031
JBrowse link
G Supt16h SPT16 homolog, facilitates chromatin remodeling subunit ISO ClinVar Annotator: match by term: Dextrocardia ClinVar NCBI chr15:24,867,697...24,904,818
Ensembl chr15:24,866,489...24,904,846
JBrowse link
G Zfyve16 zinc finger FYVE-type containing 16 ISO ClinVar Annotator: match by term: Dextrocardia ClinVar NCBI chr 2:23,713,018...23,757,576
Ensembl chr 2:23,713,766...23,756,990
JBrowse link
G Zic3 Zic family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17127413 NCBI chr  X:136,123,662...136,134,295
Ensembl chr  X:136,124,026...136,134,746
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 chr14:79,879,482...79,930,778
Ensembl chr14:79,879,533...79,930,778
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 chr10:87,846,327...87,849,959
Ensembl chr10:87,846,357...87,849,757
JBrowse link
G Ccdc39 coiled-coil domain containing 39 ISS MouseDO NCBI chr 2:116,665,261...116,703,364
Ensembl chr 2:116,665,261...116,703,350
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 chr10:104,486,748...104,527,284
Ensembl chr10:104,486,748...104,527,243
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 2:44,630,640...44,633,914
Ensembl chr 2:44,626,369...44,633,914
JBrowse link
G Cfap298 cilia and flagella associated protein 298 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24094744 PMID:28492532 NCBI chr11:30,181,916...30,191,302
Ensembl chr11:30,181,905...30,191,346
JBrowse link
G Daw1 dynein assembly factor with WD repeats 1 ISS MouseDO NCBI chr 9:84,435,552...84,472,632
Ensembl chr 9:84,435,552...84,472,635
JBrowse link
G Dnaaf1 dynein, axonemal, assembly factor 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:19944400 PMID:19944405 NCBI chr19:47,624,534...47,652,314
Ensembl chr19:47,624,181...47,652,313
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 chr 7:98,141,525...98,245,906
Ensembl chr 7:98,144,763...98,245,837
JBrowse link
G Dnaaf2 dynein, axonemal, assembly factor 2 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:19052621 PMID:24498942 NCBI chr 6:87,661,101...87,670,267
Ensembl chr 6:87,660,821...87,670,199
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 1:69,291,300...69,299,365
Ensembl chr 1:69,291,454...69,299,344
JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23872636 NCBI chr 8:73,696,394...73,711,315
Ensembl chr 8:73,698,103...73,711,292
JBrowse link
G Dnah1 dynein, axonemal, heavy chain 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:25927852 NCBI chr16:6,455,514...6,517,103
Ensembl chr16:6,456,002...6,518,350
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 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536
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:11788826 PMID:16627867 PMID:19357118 PMID:19630565 PMID:23477994 More... RGD:1601080 NCBI chr 2:78,937,788...79,255,551
Ensembl chr 2:78,937,800...79,254,890
JBrowse link
G Dnah8 dynein, axonemal, heavy chain 8 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24307375 NCBI chr20:8,692,939...8,946,780
Ensembl chr20:8,692,963...8,946,772
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:16199547 PMID:16858015 PMID:18434704 More... RGD:1601083 NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925
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:9536098 PMID:17576681 PMID:18950741 PMID:28492532 NCBI chr10:99,759,966...99,793,379
Ensembl chr10:99,759,966...99,793,378
JBrowse link
G Dnal1 dynein, axonemal, light chain 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:21496787 NCBI chr 6:103,747,801...103,779,015
Ensembl chr 6:103,747,753...103,778,878
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 6:26,025,004...26,059,438
Ensembl chr 6:26,025,005...26,059,414
JBrowse link
G Foxj1 forkhead box J1 ISS MouseDO NCBI chr10:101,566,299...101,570,249 JBrowse link
G Hydin Hydin, axonemal central pair apparatus protein ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:14985390 PMID:23022101 NCBI chr19:38,236,996...38,583,271
Ensembl chr19:38,236,464...38,583,264
JBrowse link
G LOC691354 hypothetical protein LOC691354 ISS MouseDO NCBI chr 5:159,075,217...159,110,642
Ensembl chr 5:159,075,343...159,105,369
JBrowse link
G Mbl2 mannose binding lectin 2 severity ISO DNA:haplotype:promoter: RGD PMID:24753481 RGD:11250592 NCBI chr 1:228,016,439...228,024,736 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 2:44,636,581...44,643,730
Ensembl chr 2:44,636,856...44,642,601
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 1:96,392,132...96,420,926
Ensembl chr 1:96,394,824...96,420,925
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 chr17:55,216,877...55,409,872
Ensembl chr17:55,218,991...55,409,399
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 PMID:25741868 NCBI chr 8:20,520,898...20,534,499
Ensembl chr 8:20,520,898...20,534,499
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 7:67,347,118...67,359,466
Ensembl chr 7:67,356,113...67,357,668
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 chr20:9,341,910...9,360,640
Ensembl chr20:9,341,913...9,360,640
JBrowse link
G Rsph3 radial spoke head 3 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:26073779 PMID:28492532 NCBI chr 1:47,101,961...47,155,201
Ensembl chr 1:47,101,961...47,154,232
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 chr20:30,764,409...30,780,574
Ensembl chr20:30,764,409...30,780,574
JBrowse link
G Slit2 slit guidance ligand 2 ISS MouseDO NCBI chr14:62,616,337...62,955,934
Ensembl chr14:62,617,067...62,955,948
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 7:67,361,474...67,421,369
Ensembl chr 7:67,361,477...67,421,368
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 8:108,220,386...108,224,745
Ensembl chr 8:108,220,386...108,224,744
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: Meckel syndrome type 7 OMIM
ClinVar
PMID:9536098 PMID:12872122 PMID:16199547 PMID:17576681 PMID:17855640 More... NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
JBrowse link
Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Creld1 cysteine-rich with EGF-like domains 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrioventricular septal defect, partial, with heterotaxy syndrome
CTD
ClinVar
PMID:12632326 PMID:24697899 PMID:28492532 NCBI chr 4:146,631,883...146,641,493
Ensembl chr 4:146,631,883...146,641,499
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 chr10:63,060,868...63,073,546
Ensembl chr10:63,061,253...63,072,416
JBrowse link
G Nphp3 nephrocystin 3 ISS OMIM:208540 | OMIM:615415 MouseDO NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
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:9536098 PMID:12872122 PMID:16199547 PMID:17576681 More... NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
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:25741876 PMID:26697755 More... NCBI chr10:63,060,868...63,073,546
Ensembl chr10:63,061,253...63,072,416
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 chr19:10,336,921...10,346,555
Ensembl chr19:10,336,921...10,346,564
JBrowse link
right atrial isomerism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvr2b activin A receptor type 2B ISS OMIM:208530 MouseDO NCBI chr 8:119,138,901...119,178,477
Ensembl chr 8:119,138,812...119,170,458
JBrowse link
G Cfc1 cripto, FRL-1, cryptic family 1 ISS OMIM:208530 MouseDO NCBI chr 9:36,742,106...36,751,931
Ensembl chr 9:36,739,071...36,751,930
JBrowse link
G Gdf1 growth differentiation factor 1 ISS OMIM:208530 MouseDO NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,097,314...19,112,519
JBrowse link
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 8:119,138,901...119,178,477
Ensembl chr 8:119,138,812...119,170,458
JBrowse link
G Anks6 ankyrin repeat and sterile alpha motif domain containing 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23793029 NCBI chr 5:61,309,183...61,350,596
Ensembl chr 5:61,309,183...61,350,596
JBrowse link
G Cfap52 cilia and flagella associated protein 52 ISO ClinVar Annotator: match by term: Situs inversus totalis ClinVar PMID:28492532 NCBI chr10:52,613,761...52,654,922
Ensembl chr10:52,613,762...52,654,934
JBrowse link
G Nodal nodal growth differentiation factor ISS OMIM:270100 MouseDO NCBI chr20:29,368,436...29,376,837
Ensembl chr20:29,368,436...29,376,837
JBrowse link
G Nphp3 nephrocystin 3 ISO RGD PMID:18371931 RGD:11352488 NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
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 chr14:83,552,964...83,670,062
Ensembl chr14:83,545,469...83,638,498
JBrowse link
G Zic3 Zic family member 3 ISO X-linked visceral heterotaxy, OMIM:306955 RGD PMID:9354794 RGD:1599909 NCBI chr  X:136,123,662...136,134,295
Ensembl chr  X:136,124,026...136,134,746
JBrowse link
Visceral Heterotaxy 4, Autosomal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaa1a acetyl-CoA acyltransferase 1A ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 8:119,079,401...119,088,624
Ensembl chr 8:119,079,775...119,088,624
JBrowse link
G Acvr2b activin A receptor type 2B ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal
ClinVar Annotator: match by OMIM:613751
OMIM
ClinVar
PMID:2049719 PMID:9536098 PMID:9916847 PMID:17576681 PMID:21864452 More... NCBI chr 8:119,138,901...119,178,477
Ensembl chr 8:119,138,812...119,170,458
JBrowse link
G Ctdspl CTD small phosphatase like ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 8:118,642,729...118,767,238
Ensembl chr 8:118,642,672...118,767,117
JBrowse link
G Dlec1 DLEC1 cilia and flagella associated protein ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 8:118,826,429...118,873,183
Ensembl chr 8:118,826,466...118,873,655
JBrowse link
G Exog exo/endonuclease G ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 8:119,184,974...119,204,819
Ensembl chr 8:119,185,136...119,204,672
JBrowse link
G Itga9 integrin subunit alpha 9 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 8:118,307,424...118,615,527
Ensembl chr 8:118,307,381...118,613,754
JBrowse link
G LOC685081 similar to solute carrier family 22 (organic cation transporter), member 13 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 8:118,958,209...118,972,614
Ensembl chr 8:118,961,000...118,966,046
JBrowse link
G Mir26a microRNA 26a ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 8:118,755,289...118,755,378
Ensembl chr 8:118,755,289...118,755,378
JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
JBrowse link
G Oxsr1 oxidative stress responsive kinase 1 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 8:118,972,754...119,062,102
Ensembl chr 8:118,972,754...119,062,027
JBrowse link
G Plcd1 phospholipase C, delta 1 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 8:118,795,196...118,818,186
Ensembl chr 8:118,795,201...118,818,186
JBrowse link
G Scn10a sodium voltage-gated channel alpha subunit 10 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 8:119,350,723...119,462,882
Ensembl chr 8:119,350,724...119,462,614
JBrowse link
G Scn11a sodium voltage-gated channel alpha subunit 11 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 8:119,495,550...119,567,044
Ensembl chr 8:119,496,769...119,567,044
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
JBrowse link
G Slc22a14 solute carrier family 22, member 14 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 8:118,894,537...118,916,446 JBrowse link
G Vill villin-like ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 8:118,776,718...118,794,983
Ensembl chr 8:118,776,742...118,794,983
JBrowse link
G Xylb xylulokinase ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal ClinVar PMID:28492532 NCBI chr 8:119,093,466...119,128,858
Ensembl chr 8:119,096,029...119,128,848
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 chr20:29,379,444...29,400,131
Ensembl chr20:29,382,668...29,399,946
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:9536098 PMID:17576681 PMID:19064609 PMID:19553149 More... NCBI chr20:29,368,436...29,376,837
Ensembl chr20:29,368,436...29,376,837
JBrowse link
G Pald1 phosphatase domain containing, paladin 1 ISO ClinVar Annotator: match by term: Visceral heterotaxy 5, autosomal ClinVar PMID:28492532 NCBI chr20:29,269,814...29,334,850
Ensembl chr20:29,270,193...29,334,858
JBrowse link
G Prf1 perforin 1 ISO ClinVar Annotator: match by term: Visceral heterotaxy 5, autosomal ClinVar PMID:28492532 NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701
JBrowse link
Visceral Heterotaxy 6, Autosomal 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 OMIM:614779
ClinVar Annotator: match by term: Heterotaxy, visceral, 6, autosomal
ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:22577226 PMID:25504577 PMID:25741868 More... NCBI chr18:67,884,651...67,955,873
Ensembl chr18:67,869,855...67,952,318
JBrowse link
Visceral Heterotaxy 7, Autosomal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp21 matrix metallopeptidase 21 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 7, autosomal ClinVar
OMIM
PMID:24033266 PMID:25741868 PMID:26437028 NCBI chr 1:188,480,186...188,485,855
Ensembl chr 1:188,480,186...188,485,855
JBrowse link
Visceral Heterotaxy 8, Autosomal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pkd1l1 polycystin 1 like 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: HETEROTAXY, VISCERAL, 8, AUTOSOMAL
ClinVar Annotator: match by term: Heterotaxy, visceral, 8, autosomal
ClinVar
OMIM
PMID:25741868 PMID:27616478 PMID:28492532 PMID:30664273 PMID:31026592 More... NCBI chr14:83,552,964...83,670,062
Ensembl chr14:83,545,469...83,638,498
JBrowse link
Visceral Heterotaxy 9, Autosomal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mns1 meiosis-specific nuclear structural 1 ISO ClinVar Annotator: match by term: HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY ClinVar
OMIM
PMID:30148830 NCBI chr 8:73,148,877...73,169,570
Ensembl chr 8:73,148,877...73,176,925
JBrowse link
G Tex9 testis expressed 9 ISO ClinVar Annotator: match by term: HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY ClinVar PMID:30148830 NCBI chr 8:73,168,519...73,213,935
Ensembl chr 8:73,177,810...73,214,261
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    syndrome 8125
      visceral heterotaxy 91
        Congenital Heart Defects, Multiple Types, 1, X-Linked 1
        Laterality Defects, Autosomal Dominant 0
        Left-Right Axis Malformations 0
        Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome 1
        Polyasplenia 0
        Visceral Heterotaxy 2, Autosomal 0
        Visceral Heterotaxy 3, Autosomal 0
        Visceral Heterotaxy 4, Autosomal 17
        Visceral Heterotaxy 5, Autosomal 4
        Visceral Heterotaxy 6, Autosomal 1
        Visceral Heterotaxy 7, Autosomal 1
        Visceral Heterotaxy 8, Autosomal 1
        Visceral Heterotaxy 9, Autosomal 2
        Visceroatrial Heterotaxy, Autosomal Recessive 0
        right atrial isomerism 3
        situs inversus + 53
Path 2
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        Congenital Abnormalities 5588
          Cardiovascular Abnormalities 1138
            congenital heart disease 1080
              visceral heterotaxy 91
                Congenital Heart Defects, Multiple Types, 1, X-Linked 1
                Laterality Defects, Autosomal Dominant 0
                Left-Right Axis Malformations 0
                Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome 1
                Polyasplenia 0
                Visceral Heterotaxy 2, Autosomal 0
                Visceral Heterotaxy 3, Autosomal 0
                Visceral Heterotaxy 4, Autosomal 17
                Visceral Heterotaxy 5, Autosomal 4
                Visceral Heterotaxy 6, Autosomal 1
                Visceral Heterotaxy 7, Autosomal 1
                Visceral Heterotaxy 8, Autosomal 1
                Visceral Heterotaxy 9, Autosomal 2
                Visceroatrial Heterotaxy, Autosomal Recessive 0
                right atrial isomerism 3
                situs inversus + 53
paths to the root