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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


show annotations for term's descendants           Sort by:
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 chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761 		JBrowse link
G CCN1 cellular communication network factor 1 ISS
ISO		 OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO
RGD		 PMID:17023674 RGD:329845526 NCBI chr 1:85,580,761...85,583,950
Ensembl chr 1:85,580,761...85,584,589 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G DNAH11 dynein axonemal heavy chain 11 ISS OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr 7:21,543,039...21,901,839
Ensembl chr 7:21,543,039...21,901,839 		JBrowse link
G ELN elastin IAGP ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G FOXP1 forkhead box P1 IAGP ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978 		JBrowse link
G GATA4 GATA binding protein 4 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002 		JBrowse link
G GATA6 GATA binding protein 6 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528 		JBrowse link
G GLYR1 glyoxylate reductase 1 homolog ISS OMIM:600309 | OMIM:606215 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr16:4,803,203...4,847,288
Ensembl chr16:4,803,203...4,847,288 		JBrowse link
G IFT172 intraflagellar transport 172 ISS OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805 		JBrowse link
G MKS1 MKS transition zone complex subunit 1 ISS OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605 		JBrowse link
G NKX2-5 NK2 homeobox 5 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, somatic ClinVar PMID:15342699 PMID:15917268 NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311 		JBrowse link
G NR1D2 nuclear receptor subfamily 1 group D member 2 ISS
IAGP		 OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474
ClinVar Annotator: match by term: AVC DEFECT		 MouseDO
ClinVar		 PMID:27058611 NCBI chr 3:23,945,286...23,980,617
Ensembl chr 3:23,945,286...23,980,617 		JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:19538633 RGD:12801428 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463 		JBrowse link
G SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 IAGP ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 More... NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053 		JBrowse link
G TBX5 T-box transcription factor 5 IAGP ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442 		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 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,792,518...9,807,101
Ensembl chr 3:9,792,495...9,807,101 		JBrowse link
G ARPC4-TTLL3 ARPC4-TTLL3 readthrough IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,792,548...9,836,356
Ensembl chr 3:9,793,082...9,835,401 		JBrowse link
G ATP2B2 ATPase plasma membrane Ca2+ transporting 2 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:10,324,023...10,708,007
Ensembl chr 3:10,324,023...10,708,007 		JBrowse link
G BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 3:10,115,675...10,127,190
Ensembl chr 3:10,115,675...10,127,190 		JBrowse link
G BRPF1 bromodomain and PHD finger containing 1 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,731,735...9,748,015
Ensembl chr 3:9,731,729...9,748,019 		JBrowse link
G CAMK1 calcium/calmodulin dependent protein kinase I IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,757,347...9,769,947
Ensembl chr 3:9,757,347...9,769,992 		JBrowse link
G CAV3 caveolin 3 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:8,733,802...8,746,758
Ensembl chr 3:8,733,802...8,841,808 		JBrowse link
G CIDEC cell death inducing DFFA like effector c IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,866,710...9,880,253
Ensembl chr 3:9,866,711...9,880,255 		JBrowse link
G CPNE9 copine family member 9 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,703,833...9,729,908
Ensembl chr 3:9,703,826...9,729,908 		JBrowse link
G CRELD1 cysteine rich with EGF like domains 1 susceptibility IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2
ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 | ClinVar Annotator: match by term: CRELD1-related condition		 ClinVar
OMIM		 PMID:11376440 PMID:12632326 PMID:15857420 PMID:17036335 PMID:21080147 More... NCBI chr 3:9,933,834...9,945,406
Ensembl chr 3:9,933,793...9,945,413 		JBrowse link
G EMC3 ER membrane protein complex subunit 3 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 3:9,962,682...10,011,118
Ensembl chr 3:9,962,682...10,011,202 		JBrowse link
G FANCD2 FA complementation group D2 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932 		JBrowse link
G FANCD2OS FANCD2 opposite strand IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 3:10,081,320...10,108,457
Ensembl chr 3:10,081,317...10,108,255 		JBrowse link
G GHRL ghrelin and obestatin prepropeptide IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:10,285,666...10,292,947
Ensembl chr 3:10,285,666...10,292,947 		JBrowse link
G GHRLOS ghrelin opposite strand/antisense RNA IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:10,280,952...10,293,449
Ensembl chr 3:10,285,754...10,294,903 		JBrowse link
G GRM7 glutamate metabotropic receptor 7 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:6,861,115...7,741,533
Ensembl chr 3:6,770,001...7,741,533 		JBrowse link
G IL17RC interleukin 17 receptor C IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,917,098...9,933,621
Ensembl chr 3:9,917,074...9,933,630 		JBrowse link
G IL17RE interleukin 17 receptor E IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,902,093...9,916,402
Ensembl chr 3:9,902,612...9,916,402 		JBrowse link
G IRAK2 interleukin 1 receptor associated kinase 2 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:10,164,919...10,243,745
Ensembl chr 3:10,164,919...10,243,745 		JBrowse link
G JAGN1 jagunal homolog 1 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,890,610...9,894,349
Ensembl chr 3:9,890,574...9,894,349 		JBrowse link
G LHFPL4 LHFPL tetraspan subfamily member 4 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,498,361...9,553,822
Ensembl chr 3:9,498,361...9,553,822 		JBrowse link
G LINC00312 long intergenic non-protein coding RNA 312 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:8,571,782...8,574,668 JBrowse link
G LMCD1 LIM and cysteine rich domains 1 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:8,501,823...8,574,668
Ensembl chr 3:8,501,807...8,574,668 		JBrowse link
G MTMR14 myotubularin related protein 14 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,649,505...9,702,393
Ensembl chr 3:9,649,433...9,702,393 		JBrowse link
G OGG1 8-oxoguanine DNA glycosylase IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,749,952...9,783,108
Ensembl chr 3:9,749,944...9,788,219 		JBrowse link
G OXTR oxytocin receptor IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:8,741,269...8,769,613
Ensembl chr 3:8,750,381...8,769,628 		JBrowse link
G PRRT3 proline rich transmembrane protein 3 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 3:9,945,542...9,952,408
Ensembl chr 3:9,939,450...9,952,408 		JBrowse link
G RAD18 RAD18 E3 ubiquitin protein ligase IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:8,877,075...8,963,472
Ensembl chr 3:8,775,402...8,963,773 		JBrowse link
G RPUSD3 RNA pseudouridine synthase D3 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,837,849...9,844,008
Ensembl chr 3:9,837,849...9,844,602 		JBrowse link
G SEC13 SEC13 homolog, nuclear pore and COPII coat complex component IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:10,300,931...10,321,112
Ensembl chr 3:10,293,131...10,321,112 		JBrowse link
G SETD5 SET domain containing 5 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,397,615...9,478,154
Ensembl chr 3:9,397,615...9,479,240 		JBrowse link
G SLC6A1 solute carrier family 6 member 1 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:10,992,748...11,039,247
Ensembl chr 3:10,992,186...11,039,247 		JBrowse link
G SLC6A11 solute carrier family 6 member 11 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:10,816,228...10,940,714
Ensembl chr 3:10,816,201...10,940,714 		JBrowse link
G SRGAP3 SLIT-ROBO Rho GTPase activating protein 3 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:8,980,591...9,363,027
Ensembl chr 3:8,980,591...9,363,053 		JBrowse link
G SSUH2 ssu-2 homolog IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:8,619,386...8,681,927
Ensembl chr 3:8,619,386...8,745,040 		JBrowse link
G TADA3 transcriptional adaptor 3 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,779,967...9,793,011
Ensembl chr 3:9,779,967...9,793,011 		JBrowse link
G TATDN2 TatD DNase domain containing 2 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:10,248,459...10,281,218
Ensembl chr 3:10,248,023...10,281,218 		JBrowse link
G THUMPD3 THUMP domain containing 3 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,363,054...9,386,791
Ensembl chr 3:9,362,971...9,386,791 		JBrowse link
G TTLL3 tubulin tyrosine ligase like 3 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr 3:9,809,727...9,836,365
Ensembl chr 3:9,808,086...9,855,138 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,667 		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 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect 3 ClinVar PMID:25741868 PMID:28492532 PMID:30653986 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		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 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar
OMIM		 PMID:2087424 PMID:9536098 PMID:12845333 PMID:12939651 PMID:15235040 More... NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002 		JBrowse link
G LOC110120689 VISTA enhancer hs508 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:22318994 PMID:23239632 PMID:23696316 PMID:28492532 NCBI chr 8:11,746,673...11,747,186 JBrowse link
G LOC110121280 VISTA enhancer hs2204 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:22318994 PMID:23239632 PMID:23696316 PMID:28492532 NCBI chr 8:11,699,806...11,703,497 JBrowse link
G LOC110121281 VISTA enhancer hs2205 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:22318994 PMID:23239632 PMID:23696316 PMID:28492532 NCBI chr 8:11,739,275...11,744,047 JBrowse link
G LOC111365225 HNF4 motif-containing MPRA enhancer 121 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:22318994 PMID:23239632 PMID:23696316 PMID:28492532 NCBI chr 8:11,718,788...11,718,932 JBrowse link
G LOC129999900 ATAC-STARR-seq lymphoblastoid silent region 18936 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:22318994 PMID:23239632 PMID:23696316 PMID:28492532
G LOC129999901 ATAC-STARR-seq lymphoblastoid active region 27031 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:22318994 PMID:23239632 PMID:23696316 PMID:28492532
G SNORA99 small nucleolar RNA, H/ACA box 99 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:22318994 PMID:23239632 PMID:23696316 PMID:28492532 NCBI chr 8:11,705,362...11,705,558 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 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect 5 ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:19666519 PMID:20581743 More... NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528 		JBrowse link
G MIB1 MIB E3 ubiquitin protein ligase 1 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect 5 ClinVar PMID:22318994 PMID:28492532 NCBI chr18:21,704,916...21,870,953
Ensembl chr18:21,704,957...21,870,953 		JBrowse link
G MIR1-2 microRNA 1-2 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect 5 ClinVar PMID:22318994 PMID:28492532 NCBI chr18:21,829,004...21,829,088
Ensembl chr18:21,829,004...21,829,088 		JBrowse link
G MIR133A1 microRNA 133a-1 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect 5 ClinVar PMID:22318994 PMID:28492532 NCBI chr18:21,825,698...21,825,785
Ensembl chr18:21,825,698...21,825,785 		JBrowse link
Atrioventricular Septal Defect and Common Atrioventricular Junction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJA1 gap junction protein alpha 1 IAGP ClinVar Annotator: match by term: Atrioventricular septal defect and common atrioventricular junction ClinVar PMID:11470490 PMID:22090377 PMID:25741868 PMID:28492532 PMID:30653986 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		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 EXP
IAGP		 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 3:9,933,834...9,945,406
Ensembl chr 3:9,933,793...9,945,413 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    physical disorder 7135
      congenital heart disease 1894
        heart septal defect 250
          ventricular septal defect 175
            atrioventricular septal defect 67
              Atrioventricular Septal Defect 2 40
              Atrioventricular Septal Defect 3 1
              Atrioventricular Septal Defect 4 8
              Atrioventricular Septal Defect 5 4
              Atrioventricular Septal Defect and Common Atrioventricular Junction 1
              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 41189
    Developmental Disease 36464
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33606
        Congenital Abnormalities 14117
          Cardiovascular Abnormalities 2110
            congenital heart disease 1894
              heart septal defect 250
                atrial heart septal defect 147
                  atrioventricular septal defect 67
                    Atrioventricular Septal Defect 2 40
                    Atrioventricular Septal Defect 3 1
                    Atrioventricular Septal Defect 4 8
                    Atrioventricular Septal Defect 5 4
                    Atrioventricular Septal Defect and Common Atrioventricular Junction 1
                    Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects 0
                    Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome 1
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