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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:atrioventricular septal defect
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Accession:DOID:0050651 term browser browse the term
Definition:A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs. (DO)
Synonyms:exact_synonym: AVC defect;   AVCD;   AVSD;   Atrioventricular Canal Defect;   ECD;   endocardial cushion defect
 narrow_synonym: AVSD1;   atrioventricular septal defect, somatic;   atrioventricular septal defect, susceptibility to, 1
 primary_id: MESH:C562831
 alt_id: OMIM:606215
 xref: GARD:802;   ICD10CM:Q21.2;   ICD9CM:745.6;   NCI:C101029;   OMIM:PS606215;   ORDO:98722
For additional species annotation, visit the Alliance of Genome Resources.



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atrioventricular septal defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISS OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
JBrowse link
G Ccn1 cellular communication network factor 1 ISS OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484
JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Atrioventricular septal defect ClinVar PMID:25741868 NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 ISS OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536
JBrowse link
G Eln elastin ISO ClinVar Annotator: match by term: Atrioventricular septal defect ClinVar PMID:25741868 PMID:28492532 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
JBrowse link
G Foxp1 forkhead box P1 ISO ClinVar Annotator: match by term: ENDOCARDIAL CUSHION DEFECT ClinVar PMID:25741868 NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258
JBrowse link
G Gata4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
JBrowse link
G Gata6 GATA binding protein 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532
JBrowse link
G Gja1 gap junction protein, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
JBrowse link
G Ift172 intraflagellar transport 172 ISS OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr 6:25,081,933...25,121,271 JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISS OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655
JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, somatic ClinVar PMID:15342699 PMID:15917268 NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934
JBrowse link
G Nr1d2 nuclear receptor subfamily 1, group D, member 2 ISS
ISO
OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474
ClinVar Annotator: match by term: Atrioventricular septal defect
MouseDO
ClinVar
PMID:27058611 NCBI chr15:7,524,257...7,550,553
Ensembl chr15:7,524,257...7,550,553
JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:19538633 RGD:12801428 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
JBrowse link
G Smarcal1 Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect ClinVar PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 More... NCBI chr 9:74,239,718...74,286,156
Ensembl chr 9:74,240,241...74,286,146
JBrowse link
G Tbx5 T-box transcription factor 5 ISO ClinVar Annotator: match by term: Atrioventricular septal defect ClinVar PMID:25741868 NCBI chr12:36,686,344...36,739,253
Ensembl chr12:36,688,014...36,734,885
JBrowse link
Atrioventricular Septal Defect 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arpc4 actin related protein 2/3 complex, subunit 4 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr 4:146,522,255...146,532,784
Ensembl chr 4:146,522,176...146,532,785
JBrowse link
G Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 4:146,750,821...146,766,050
Ensembl chr 4:146,750,821...146,768,856
JBrowse link
G Brpf1 bromodomain and PHD finger containing, 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr 4:146,456,344...146,472,781
Ensembl chr 4:146,456,318...146,472,649
JBrowse link
G Camk1 calcium/calmodulin-dependent protein kinase I ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr 4:146,481,196...146,492,039
Ensembl chr 4:146,481,196...146,492,081
JBrowse link
G Cidec cell death-inducing DFFA-like effector c ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr 4:146,569,288...146,582,173
Ensembl chr 4:146,569,289...146,582,173
JBrowse link
G Cpne9 copine family member 9 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr 4:146,429,961...146,454,335
Ensembl chr 4:146,430,792...146,454,333
JBrowse link
G Creld1 cysteine-rich with EGF-like domains 1 susceptibility ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2
ClinVar Annotator: match by term: CRELD1-related condition
ClinVar
OMIM
PMID:11376440 PMID:12632326 PMID:15857420 PMID:17036335 PMID:23040494 More... NCBI chr 4:146,631,883...146,641,493
Ensembl chr 4:146,631,883...146,641,499
JBrowse link
G Emc3 ER membrane protein complex subunit 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 4:146,663,065...146,678,976
Ensembl chr 4:146,663,067...146,679,029
JBrowse link
G Fancd2 FA complementation group D2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412
JBrowse link
G Fancd2os FANCD2 opposite strand ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 4:146,740,863...146,747,547
Ensembl chr 4:146,740,863...146,747,569
JBrowse link
G Il17rc interleukin 17 receptor C ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr 4:146,618,321...146,631,444
Ensembl chr 4:146,619,004...146,631,442
JBrowse link
G Il17re interleukin 17 receptor E ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr 4:146,604,547...146,618,206
Ensembl chr 4:146,605,526...146,618,206
JBrowse link
G Jagn1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr 4:146,591,577...146,596,287
Ensembl chr 4:146,591,510...146,596,288
JBrowse link
G Mtmr14 myotubularin related protein 14 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr 4:146,386,949...146,429,990
Ensembl chr 4:146,386,956...146,429,990
JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
JBrowse link
G Prrt3 proline-rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 4:146,641,173...146,650,487
Ensembl chr 4:146,641,173...146,650,317
JBrowse link
G Rpusd3 RNA pseudouridine synthase D3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr 4:146,553,230...146,562,794
Ensembl chr 4:146,558,562...146,562,794
JBrowse link
G Tada3 transcriptional adaptor 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr 4:146,510,213...146,521,975
Ensembl chr 4:146,510,246...146,521,590
JBrowse link
G Ttll3 tubulin tyrosine ligase like 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:28492532 NCBI chr 4:146,532,958...146,558,425
Ensembl chr 4:146,533,953...146,557,889
JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
JBrowse link
Atrioventricular Septal Defect 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 3 OMIM
ClinVar
PMID:11470490 PMID:22090377 PMID:25741868 PMID:28492532 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
JBrowse link
Atrioventricular Septal Defect 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 4 OMIM
ClinVar
PMID:9536098 PMID:12845333 PMID:12939651 PMID:15235040 PMID:15863664 More... NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
JBrowse link
Atrioventricular Septal Defect 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 5 OMIM
ClinVar
PMID:18414213 PMID:20581743 PMID:20631719 PMID:22158542 PMID:23223019 More... NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    physical disorder 3103
      congenital heart disease 1088
        heart septal defect 134
          ventricular septal defect 84
            atrioventricular septal defect 36
              Atrioventricular Septal Defect 2 20
              Atrioventricular Septal Defect 3 1
              Atrioventricular Septal Defect 4 1
              Atrioventricular Septal Defect 5 1
              Atrioventricular Septal Defect and Common Atrioventricular Junction 0
              Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects 0
              Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        Congenital Abnormalities 5603
          Cardiovascular Abnormalities 1145
            congenital heart disease 1088
              heart septal defect 134
                atrial heart septal defect 83
                  atrioventricular septal defect 36
                    Atrioventricular Septal Defect 2 20
                    Atrioventricular Septal Defect 3 1
                    Atrioventricular Septal Defect 4 1
                    Atrioventricular Septal Defect 5 1
                    Atrioventricular Septal Defect and Common Atrioventricular Junction 0
                    Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects 0
                    Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome 1
paths to the root