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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:patent ductus arteriosus
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Accession:DOID:13832 term browser browse the term
Definition:A congenital heart defect characterized by the persistent opening of fetal DUCTUS ARTERIOSUS that connects the PULMONARY ARTERY to the descending aorta (AORTA, DESCENDING) allowing unoxygenated blood to bypass the lung and flow to the PLACENTA. Normally, the ductus is closed shortly after birth.
Synonyms:exact_synonym: PATENT DUCTUS ARTERIOSUS 1;   PDA;   PDA1;   patency of the ductus arteriosus;   patent ductus arteriosus familial;   patent ductus botalli
 primary_id: MESH:D004374
 alt_id: OMIM:607411
 xref: GARD:7342;   ICD10CM:Q25.0;   ICD9CM:747.0;   NCI:C84492;   OMIM:PS607411;   ORDO:95485
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
patent ductus arteriosus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agtr1a angiotensin II receptor, type 1a ISO CTD Direct Evidence: marker/mechanism CTD PMID:12904590, PMID:19336370 NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Patency of the ductus arteriosus ClinVar PMID:16400610, PMID:18414213, PMID:21158681, PMID:22461308, PMID:23024289, PMID:24368733, PMID:28492532, PMID:28832562, PMID:30311386 NCBI chr 5:21,769,087...21,952,036
Ensembl chr 5:21,830,882...21,950,696
JBrowse link
G Myh11 myosin heavy chain 11 ISO RGD PMID:16444274 RGD:1580903 NCBI chr10:764,421...859,184
Ensembl chr10:764,421...859,184
JBrowse link
G Myocd myocardin ISS OMIM:607411 MouseDO NCBI chr10:51,682,053...51,781,458
Ensembl chr10:51,683,540...51,778,986
JBrowse link
G Nppa natriuretic peptide A ISO CTD Direct Evidence: marker/mechanism CTD PMID:1421905 NCBI chr 5:164,808,407...164,809,716
Ensembl chr 5:164,808,323...164,809,705
JBrowse link
G Prdm6 PR/SET domain 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:48,433,747...48,538,834
Ensembl chr18:48,434,652...48,538,023
JBrowse link
G Ptger4 prostaglandin E receptor 4 ISO RGD PMID:9600059 RGD:10003086 NCBI chr 2:54,951,625...54,966,470
Ensembl chr 2:54,952,821...54,963,448
JBrowse link
G Ptgis prostaglandin I2 synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19336370 NCBI chr 3:163,950,746...163,986,129 JBrowse link
G Tfap2b transcription factor AP-2 beta susceptibility ISO Char Syndrome, OMIM:169100;DNA:missense mutations:p.A264D, p.R289C
CTD Direct Evidence: marker/mechanism
CTD PMID:10802654, PMID:19336370, PMID:10802654 RGD:1601543 NCBI chr 9:25,410,669...25,440,568
Ensembl chr 9:25,410,669...25,440,411
JBrowse link
G Traf1 TNF receptor-associated factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19336370 NCBI chr 3:14,003,340...14,022,955
Ensembl chr 3:14,003,340...14,022,672
JBrowse link
Char syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tfap2b transcription factor AP-2 beta ISO ClinVar Annotator: match by term: Char syndrome
ClinVar Annotator: match by OMIM:169100
OMIM
ClinVar
PMID:7645594, PMID:8326495, PMID:10368122, PMID:10802654, PMID:10955477, PMID:11505339, PMID:15684060, PMID:21643846, PMID:25741868, PMID:29555671 NCBI chr 9:25,410,669...25,440,568
Ensembl chr 9:25,410,669...25,440,411
JBrowse link
Familial Thoracic Aortic Aneurysm 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc1 ATP binding cassette subfamily C member 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 ClinVar PMID:22318994, PMID:27884122, PMID:28492532, PMID:29179725 NCBI chr10:549,537...672,235
Ensembl chr10:549,883...672,196
JBrowse link
G Abcc6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 ClinVar PMID:22318994, PMID:27884122, PMID:28492532, PMID:29179725 NCBI chr 1:101,954,786...102,013,252
Ensembl chr 1:101,959,540...102,013,243
JBrowse link
G Bmerb1 bMERB domain containing 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 ClinVar PMID:22318994, PMID:27884122, PMID:28492532, PMID:29179725 NCBI chr10:3,411,380...3,570,689
Ensembl chr10:3,411,380...3,570,688
JBrowse link
G Cep20 centrosomal protein 20 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 ClinVar PMID:22318994, PMID:27884122, PMID:28492532, PMID:29179725 NCBI chr10:730,215...751,061
Ensembl chr10:730,247...751,061
JBrowse link
G Marf1 meiosis regulator and mRNA stability factor 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 ClinVar PMID:22318994, PMID:27884122, PMID:28492532, PMID:29179725 NCBI chr10:908,806...953,481
Ensembl chr10:908,806...953,474
JBrowse link
G Mpv17l MPV17 mitochondrial inner membrane protein like ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 ClinVar PMID:22318994, PMID:27884122, PMID:28492532, PMID:29179725 NCBI chr10:3,321,488...3,359,219
Ensembl chr10:3,321,476...3,357,470
JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4
ClinVar Annotator: match by OMIM:132900
OMIM
ClinVar
PMID:7923625, PMID:10199307, PMID:10854329, PMID:11249915, PMID:14722581, PMID:16444274, PMID:17666408, PMID:17956658, PMID:18391202, PMID:18796164, PMID:20226094, PMID:20734336, PMID:21698135, PMID:21937134, PMID:22001912, PMID:22318994, PMID:22511748, PMID:22955375, PMID:22968129, PMID:23099432, PMID:23142374, PMID:23696586, PMID:24033266, PMID:24337657, PMID:24676022, PMID:25407000, PMID:25424711, PMID:25433566, PMID:25500235, PMID:25637381, PMID:25741868, PMID:25839328, PMID:26000489, PMID:26017485, PMID:26077850, PMID:26133393, PMID:26188975, PMID:26332594, PMID:26436109, PMID:26467025, PMID:26792327, PMID:27081537, PMID:27146836, PMID:27149842, PMID:27153395, PMID:27367753, PMID:27418595, PMID:27611364, PMID:27879251, PMID:27884122, PMID:28074631, PMID:28074886, PMID:28492532, PMID:28659821, PMID:28855619, PMID:29179725, PMID:29494672, PMID:29510914, PMID:29543232, PMID:29907982, PMID:29961567, PMID:30311386, PMID:32238909 NCBI chr10:764,421...859,184
Ensembl chr10:764,421...859,184
JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4
ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus
ClinVar PMID:16444274, PMID:18391202, PMID:20226094, PMID:21698135, PMID:21937134, PMID:22001912, PMID:22318994, PMID:23099432, PMID:23142374, PMID:24033266, PMID:25500235, PMID:25637381, PMID:25741868, PMID:26017485, PMID:26133393, PMID:26188975, PMID:26436109, PMID:26467025, PMID:27146836, PMID:27153395, PMID:27367753, PMID:27418595, PMID:27611364, PMID:27884122, PMID:28074631, PMID:28492532, PMID:28659821, PMID:29179725, PMID:29510914, PMID:29543232, PMID:29907982, PMID:30311386, PMID:32238909 NCBI chr10:860,513...904,624
Ensembl chr10:860,521...896,938
JBrowse link
Multisystemic Smooth Muscle Dysfunction Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle ISO ClinVar Annotator: match by OMIM:613834
ClinVar Annotator: match by term: Multisystemic smooth muscle dysfunction syndrome
ClinVar Annotator: match by term: MYDRIASIS, CONGENITAL, WITH PATENT DUCTUS ARTERIOSUS, THORACIC AORTIC ANEURYSM, AND VASCULOPATHY
OMIM
ClinVar
PMID:10532176, PMID:13129918, PMID:14730227, PMID:15138499, PMID:15472996, PMID:19409525, PMID:20734336, PMID:20970362, PMID:22302747, PMID:22543189, PMID:22752479, PMID:22790431, PMID:22831780, PMID:22946110, PMID:23253043, PMID:23613326, PMID:24033266, PMID:24293535, PMID:24621862, PMID:24998021, PMID:25326635, PMID:25741868, PMID:25759435, PMID:25944730, PMID:26034244, PMID:26637293, PMID:27176728, PMID:27481187, PMID:27549731, PMID:27551047, PMID:28492532, PMID:29300374, PMID:30311386 NCBI chr 1:252,537,614...252,550,394
Ensembl chr 1:252,537,615...252,550,394
JBrowse link
G Fas Fas cell surface death receptor ISO ClinVar Annotator: match by term: Multisystemic smooth muscle dysfunction syndrome ClinVar NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
Patent Ductus Arteriosus 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tfap2b transcription factor AP-2 beta ISO ClinVar Annotator: match by term: Patent ductus arteriosus 2 ClinVar
OMIM
PMID:15684060, PMID:18752453, PMID:21643846 NCBI chr 9:25,410,669...25,440,568
Ensembl chr 9:25,410,669...25,440,411
JBrowse link
Patent Ductus Arteriosus 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prdm6 PR/SET domain 6 ISO ClinVar Annotator: match by term: Patent ductus arteriosus 3 ClinVar
OMIM
PMID:27181681 NCBI chr18:48,433,747...48,538,834
Ensembl chr18:48,434,652...48,538,023
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      congenital heart disease 1074
        patent ductus arteriosus 22
          Char syndrome 1
          Familial Thoracic Aortic Aneurysm 4 8
          Gorlin Chaudhry Moss Syndrome 0
          Intestinal Pseudoobstruction with Patent Ductus Arteriosus and Natal Teeth 0
          Multisystemic Smooth Muscle Dysfunction Syndrome 2
          Patent Ductus Arteriosus 2 1
          Patent Ductus Arteriosus 3 1
          Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies 0
          Ramos Arroyo Clark Syndrome 0
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        Congenital Abnormalities 4759
          Cardiovascular Abnormalities 1129
            congenital heart disease 1074
              patent ductus arteriosus 22
                Char syndrome 1
                Familial Thoracic Aortic Aneurysm 4 8
                Gorlin Chaudhry Moss Syndrome 0
                Intestinal Pseudoobstruction with Patent Ductus Arteriosus and Natal Teeth 0
                Multisystemic Smooth Muscle Dysfunction Syndrome 2
                Patent Ductus Arteriosus 2 1
                Patent Ductus Arteriosus 3 1
                Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies 0
                Ramos Arroyo Clark Syndrome 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.