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ONTOLOGY REPORT - ANNOTATIONS


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: BILATERAL RIGHT-SIDEDNESS SEQUENCE;   Heterotaxy Syndromes;   Left Atrial Isomerism;   Left Atrial Isomerism with Polysplenia;   Left Atrial Isomerisms;   Polysplenia Syndrome;   Polysplenia Syndromes;   RAI;   Situs Ambiguus;   Situs Ambiguus Viscerum;   Situs Ambiguus Viscerums;   asplenia syndrome;   asplenia syndromes;   asplenia with cardiovascular anomalies;   heterotaxia;   heterotaxy syndrome;   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;   RDO:0009970
 xref: GARD:10875;   ORDO:450
For additional species annotation, visit the Alliance of Genome Resources.


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visceral heterotaxy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acvr2b activin A receptor type 2B JBrowse link 8 128,087,308 128,126,776 RGD:11554173
RGD:8554872
G Anks6 ankyrin repeat and sterile alpha motif domain containing 6 JBrowse link 5 62,642,974 62,684,387 RGD:13592920
G Ap1b1 adaptor related protein complex 1 subunit beta 1 JBrowse link 14 85,230,652 85,281,806 RGD:13592920
G Armc4 armadillo repeat containing 4 JBrowse link 17 60,283,926 60,474,289 RGD:13592920
G Bicc1 BicC family RNA binding protein 1 JBrowse link 20 18,780,605 18,940,429 RGD:13592920
G Cc2d2a coiled-coil and C2 domain containing 2A JBrowse link 14 71,895,128 71,979,452 RGD:13592920
G Ccdc39 coiled-coil domain containing 39 JBrowse link 2 120,278,605 120,367,829 RGD:13592920
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:13592920
G Cers1 ceramide synthase 1 JBrowse link 16 20,845,580 20,860,789 RGD:8554872
G Cfap52 cilia and flagella associated protein 52 JBrowse link 10 54,470,834 54,512,157 RGD:8554872
G Cfap53 cilia and flagella associated protein 53 JBrowse link 18 70,263,290 70,330,420 RGD:13592920
G Cfc1 cripto, FRL-1, cryptic family 1 JBrowse link 9 41,045,352 41,051,979 RGD:13592920
G Cplane2 ciliogenesis and planar polarity effector 2 JBrowse link 5 159,735,008 159,735,956 RGD:13592920
G Daw1 dynein assembly factor with WD repeats 1 JBrowse link 9 88,964,530 89,001,568 RGD:13592920
G Dnaaf3 dynein, axonemal, assembly factor 3 JBrowse link 1 72,874,131 72,882,867 RGD:13592920
G Dnah11 dynein, axonemal, heavy chain 11 JBrowse link 6 145,784,893 146,099,212 RGD:13592920
G Dnah5 dynein, axonemal, heavy chain 5 JBrowse link 2
2
80,947,730
81,159,060
81,143,997
81,337,560
RGD:13592920
G Dnai1 dynein, axonemal, intermediate chain 1 JBrowse link 5 57,947,796 58,017,985 RGD:13592920
G Drc1 dynein regulatory complex subunit 1 JBrowse link 6 27,425,237 27,460,038 RGD:13592920
G Foxh1 forkhead box H1 JBrowse link 7 117,730,307 117,733,076 RGD:13592920
G Foxp1 forkhead box P1 JBrowse link 4 131,362,178 131,963,466 RGD:8554872
G Gdf1 growth differentiation factor 1 JBrowse link 16 20,845,580 20,860,789 RGD:7240710
RGD:8554872
G Ift74 intraflagellar transport 74 JBrowse link 5 113,579,065 113,682,485 RGD:13592920
G LOC690352 hypothetical protein LOC690352 JBrowse link 14 108,281,908 108,285,008 RGD:13592920
G LOC691354 hypothetical protein LOC691354 JBrowse link 5 165,464,832 165,491,375 RGD:13592920
G Megf8 multiple EGF-like-domains 8 JBrowse link 1 82,184,671 82,234,045 RGD:13592920
G Mmp21 matrix metallopeptidase 21 JBrowse link 1 205,745,119 205,750,786 RGD:11554173
RGD:8554872
G Nodal nodal growth differentiation factor JBrowse link 20 31,035,729 31,044,096 RGD:8554872
G Pcsk5 proprotein convertase subtilisin/kexin type 5 JBrowse link 1 236,031,988 236,313,858 RGD:13592920
G Pkd1l1 polycystin 1 like 1, transient receptor potential channel interacting JBrowse link 14 89,047,949 89,193,579 RGD:8554872
G Rfx3 regulatory factor X3 JBrowse link 1 245,853,332 246,110,648 RGD:13592920
G Slit2 slit guidance ligand 2 JBrowse link 14 66,831,848 67,171,491 RGD:13592920
G Tbc1d32 TBC1 domain family, member 32 JBrowse link 20 37,463,879 37,701,268 RGD:13592920
G Tdgf1 teratocarcinoma-derived growth factor 1 JBrowse link 8 119,215,266 119,220,909 RGD:11554173
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:13592920
G Wdr62 WD repeat domain 62 JBrowse link 1 90,995,545 91,034,592 RGD:13592920
G Zic3 Zic family member 3 JBrowse link X 140,875,191 140,888,344 RGD:13592920
Congenital Heart Defects, Multiple Types, 1, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eif4ebp2 eukaryotic translation initiation factor 4E binding protein 2 JBrowse link 20 31,055,292 31,072,469 RGD:8554872
G Nodal nodal growth differentiation factor JBrowse link 20 31,035,729 31,044,096 RGD:8554872
G Pald1 phosphatase domain containing, paladin 1 JBrowse link 20 30,938,901 30,983,907 RGD:8554872
G Prf1 perforin 1 JBrowse link 20 30,915,294 30,920,804 RGD:8554872
G Zic3 Zic family member 3 JBrowse link X 140,875,191 140,888,344 RGD:8554872
RGD:7240710
dextrocardia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cfap53 cilia and flagella associated protein 53 JBrowse link 18 70,263,290 70,330,420 RGD:8554872
G Rai2 retinoic acid induced 2 JBrowse link X 34,731,891 34,794,589 RGD:8554872
G Rock2 Rho-associated coiled-coil containing protein kinase 2 JBrowse link 6 42,180,864 42,289,910 RGD:8554872
G Supt16h SPT16 homolog, facilitates chromatin remodeling subunit JBrowse link 15 28,574,841 28,611,959 RGD:8554872
G Zfyve16 zinc finger FYVE-type containing 16 JBrowse link 2 22,060,879 22,105,822 RGD:8554872
G Zic3 Zic family member 3 JBrowse link X 140,875,191 140,888,344 RGD:11554173
Kartagener syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap1b1 adaptor related protein complex 1 subunit beta 1 JBrowse link 14 85,230,652 85,281,806 RGD:13592920
G Armc4 armadillo repeat containing 4 JBrowse link 17 60,283,926 60,474,289 RGD:8554872
RGD:13592920
G Ccdc103 coiled-coil domain containing 103 JBrowse link 10 90,984,213 90,987,829 RGD:8554872
G Ccdc114 coiled-coil domain containing 114 JBrowse link 1 101,904,042 101,932,999 RGD:8554872
G Ccdc151 coiled-coil domain containing 151 JBrowse link 8 23,000,912 23,014,707 RGD:8554872
RGD:13592920
G Ccdc39 coiled-coil domain containing 39 JBrowse link 2 120,278,605 120,367,829 RGD:13592920
G Ccdc40 coiled-coil domain containing 40 JBrowse link 10 108,055,270 108,393,408 RGD:8554872
RGD:11554173
G Ccdc65 coiled-coil domain containing 65 JBrowse link 7 140,383,395 140,397,186 RGD:8554872
G Ccno cyclin O JBrowse link 2 44,857,043 44,860,317 RGD:8554872
G Cfap298 cilia and flagella associated protein 298 JBrowse link 11 31,094,103 31,103,487 RGD:8554872
G Daw1 dynein assembly factor with WD repeats 1 JBrowse link 9 88,964,530 89,001,568 RGD:13592920
G Dnaaf1 dynein, axonemal, assembly factor 1 JBrowse link 19 52,217,427 52,245,930 RGD:8554872
G Dnaaf2 dynein, axonemal, assembly factor 2 JBrowse link 6 91,481,439 91,490,189 RGD:8554872
G Dnaaf3 dynein, axonemal, assembly factor 3 JBrowse link 1 72,874,131 72,882,867 RGD:8554872
RGD:11554173
G Dnaaf4 dynein axonemal assembly factor 4 JBrowse link 8 79,637,678 79,651,892 RGD:11554173
G Dnah1 dynein, axonemal, heavy chain 1 JBrowse link 16 7,345,131 7,407,009 RGD:8554872
G Dnah11 dynein, axonemal, heavy chain 11 JBrowse link 6 145,784,893 146,099,212 RGD:734893
RGD:13592920
G Dnah5 dynein, axonemal, heavy chain 5 JBrowse link 2
2
80,947,730
81,159,060
81,143,997
81,337,560
RGD:1601080
RGD:13592920
RGD:8554872
G Dnah8 dynein, axonemal, heavy chain 8 JBrowse link 20 9,301,317 9,560,805 RGD:8554872
G Dnai1 dynein, axonemal, intermediate chain 1 JBrowse link 5 57,947,796 58,017,985 RGD:1601083
RGD:8554872
RGD:11554173
RGD:7240710
G Dnai2 dynein, axonemal, intermediate chain 2 JBrowse link 10 103,266,343 103,301,521 RGD:8554872
RGD:13592920
G Dnal1 dynein, axonemal, light chain 1 JBrowse link 6 107,596,785 107,623,869 RGD:8554872
G Drc1 dynein regulatory complex subunit 1 JBrowse link 6 27,425,237 27,460,038 RGD:8554872
RGD:11554173
G Foxj1 forkhead box J1 JBrowse link 10 105,282,090 105,289,396 RGD:13592920
G Hydin Hydin, axonemal central pair apparatus protein JBrowse link 19 41,036,507 41,379,634 RGD:8554872
G LOC691354 hypothetical protein LOC691354 JBrowse link 5 165,464,832 165,491,375 RGD:13592920
G Lrrc6 leucine rich repeat containing 6 JBrowse link 7 107,130,402 107,231,507 RGD:8554872
G Mbl2 mannose binding lectin 2 JBrowse link 1 248,435,069 248,442,669 RGD:11250592
G Mcidas multiciliate differentiation and DNA synthesis associated cell cycle protein JBrowse link 2 44,863,246 44,869,732 RGD:8554872
G Polr2k RNA polymerase II subunit K JBrowse link 7 74,939,010 74,992,594 RGD:8554872
G Rsph1 radial spoke head component 1 JBrowse link 20 9,998,698 10,020,719 RGD:8554872
G Rsph3 radial spoke head 3 homolog JBrowse link 1 47,412,151 47,478,924 RGD:8554872
G Rsph4a radial spoke head component 4A JBrowse link 20 32,450,701 32,467,362 RGD:8554872
G Rsph9 radial spoke head 9 homolog JBrowse link 9 17,224,589 17,245,093 RGD:8554872
G Slit2 slit guidance ligand 2 JBrowse link 14 66,831,848 67,171,491 RGD:13592920
G Spag1 sperm associated antigen 1 JBrowse link 7 74,994,379 75,054,294 RGD:8554872
G Zmynd10 zinc finger, MYND-type containing 10 JBrowse link 8 116,302,513 116,306,871 RGD:8554872
Meckel syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nphp3 nephrocystin 3 JBrowse link 8 112,526,553 112,575,745 RGD:7240710
RGD:8554872
Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Creld1 cysteine-rich with EGF-like domains 1 JBrowse link 4 145,440,284 145,449,894 RGD:11554173
RGD:8554872
renal-hepatic-pancreatic dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nek8 NIMA-related kinase 8 JBrowse link 10 65,404,489 65,439,059 RGD:13592920
G Nphp3 nephrocystin 3 JBrowse link 8 112,526,553 112,575,745 RGD:8554872
RGD:13592920
Renal-Hepatic-Pancreatic Dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nphp3 nephrocystin 3 JBrowse link 8 112,526,553 112,575,745 RGD:7240710
RGD:8554872
Renal-Hepatic-Pancreatic Dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nek8 NIMA-related kinase 8 JBrowse link 10 65,404,489 65,439,059 RGD:7240710
RGD:8554872
retinitis pigmentosa with or without situs inversus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arl2bp ADP-ribosylation factor like GTPase 2 binding protein JBrowse link 19 10,753,670 10,763,247 RGD:7240710
RGD:8554872
right atrial isomerism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acvr2b activin A receptor type 2B JBrowse link 8 128,087,308 128,126,776 RGD:13592920
G Cfc1 cripto, FRL-1, cryptic family 1 JBrowse link 9 41,045,352 41,051,979 RGD:13592920
G Gdf1 growth differentiation factor 1 JBrowse link 16 20,845,580 20,860,789 RGD:13592920
situs inversus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acvr2b activin A receptor type 2B JBrowse link 8 128,087,308 128,126,776 RGD:11554173
G Anks6 ankyrin repeat and sterile alpha motif domain containing 6 JBrowse link 5 62,642,974 62,684,387 RGD:11554173
G Cfap52 cilia and flagella associated protein 52 JBrowse link 10 54,470,834 54,512,157 RGD:8554872
G Nodal nodal growth differentiation factor JBrowse link 20 31,035,729 31,044,096 RGD:8554872
RGD:13592920
G Nphp3 nephrocystin 3 JBrowse link 8 112,526,553 112,575,745 RGD:11352488
G Pkd1l1 polycystin 1 like 1, transient receptor potential channel interacting JBrowse link 14 89,047,949 89,193,579 RGD:8554872
G Zic3 Zic family member 3 JBrowse link X 140,875,191 140,888,344 RGD:1599909
Visceral Heterotaxy 5, Autosomal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eif4ebp2 eukaryotic translation initiation factor 4E binding protein 2 JBrowse link 20 31,055,292 31,072,469 RGD:8554872
G Nodal nodal growth differentiation factor JBrowse link 20 31,035,729 31,044,096 RGD:7240710
RGD:8554872
G Pald1 phosphatase domain containing, paladin 1 JBrowse link 20 30,938,901 30,983,907 RGD:8554872
G Prf1 perforin 1 JBrowse link 20 30,915,294 30,920,804 RGD:8554872
Visceral Heterotaxy, 4, Autosomal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acvr2b activin A receptor type 2B JBrowse link 8 128,087,308 128,126,776 RGD:7240710
RGD:8554872
Visceral Heterotaxy, 6, Autosomal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cfap53 cilia and flagella associated protein 53 JBrowse link 18 70,263,290 70,330,420 RGD:8554872
RGD:7240710
RGD:11554173
Visceral Heterotaxy, 7, Autosomal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mmp21 matrix metallopeptidase 21 JBrowse link 1 205,745,119 205,750,786 RGD:11554173
RGD:7240710
RGD:8554872
Visceral Heterotaxy, 8, Autosomal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pkd1l1 polycystin 1 like 1, transient receptor potential channel interacting JBrowse link 14 89,047,949 89,193,579 RGD:8554872
RGD:7240710
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    physical disorder 740
      visceral heterotaxy 74
        Congenital Heart Defects, Multiple Types, 1, X-Linked 5
        Laterality Defects, Autosomal Dominant 0
        Left-Right Axis Malformations 0
        Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome 1
        Polyasplenia 0
        Visceral Heterotaxy, 3, Autosomal 0
        Visceral Heterotaxy, 4, Autosomal 1
        Visceral Heterotaxy, 6, Autosomal 1
        Visceral Heterotaxy, 7, Autosomal 1
        Visceral Heterotaxy, 8, Autosomal 1
        Visceroatrial Heterotaxy, Autosomal Recessive 0
        right atrial isomerism 3
        situs inversus + 54
Path 2
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        Congenital Abnormalities 3137
          Cardiovascular Abnormalities 781
            congenital heart disease 730
              visceral heterotaxy 74
                Congenital Heart Defects, Multiple Types, 1, X-Linked 5
                Laterality Defects, Autosomal Dominant 0
                Left-Right Axis Malformations 0
                Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome 1
                Polyasplenia 0
                Visceral Heterotaxy, 3, Autosomal 0
                Visceral Heterotaxy, 4, Autosomal 1
                Visceral Heterotaxy, 6, Autosomal 1
                Visceral Heterotaxy, 7, Autosomal 1
                Visceral Heterotaxy, 8, Autosomal 1
                Visceroatrial Heterotaxy, Autosomal Recessive 0
                right atrial isomerism 3
                situs inversus + 54
paths to the root