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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 Abcc9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Patency of the ductus arteriosus ClinVar PMID:22608503 PMID:22610116 PMID:25741868 PMID:26871653 PMID:28492532 NCBI chr 4:176,806,098...176,928,540
Ensembl chr 4:176,805,431...176,922,424
JBrowse link
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 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:29650765 PMID:29907982 PMID:29961567 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: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:27567161 PMID:28492532 PMID:29300374 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 16092
    Developmental Diseases 9588
      congenital heart disease 1057
        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 16092
    Developmental Diseases 9588
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8436
        Congenital Abnormalities 4716
          Cardiovascular Abnormalities 1109
            congenital heart disease 1057
              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