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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.



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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 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356
JBrowse link
G Agtr1a angiotensin II receptor, type 1a ISO CTD Direct Evidence: marker/mechanism CTD PMID:12904590 PMID:19336370 NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
JBrowse link
G Myh11 myosin heavy chain 11 ISO
ISS
OMIM:607411 MouseDO
RGD
PMID:16444274 RGD:1580903 NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
JBrowse link
G Myocd myocardin ISS OMIM:607411 MouseDO NCBI chr10:49,833,219...49,928,806
Ensembl chr10:49,836,641...49,927,627
JBrowse link
G Nppa natriuretic peptide A ISO CTD Direct Evidence: marker/mechanism CTD PMID:1421905 NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351
JBrowse link
G Prdm6 PR/SET domain 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:46,904,115...47,008,482
Ensembl chr18:46,904,127...47,007,823
JBrowse link
G Ptger4 prostaglandin E receptor 4 ISO RGD PMID:9600059 RGD:10003086 NCBI chr 2:54,330,563...54,347,451
Ensembl chr 2:54,335,424...54,346,670
JBrowse link
G Ptgis prostaglandin I2 synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19336370 NCBI chr 3:155,928,564...155,964,228
Ensembl chr 3:155,916,412...155,965,451
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Patency of the ductus arteriosus ClinVar PMID:11992261 PMID:12325025 PMID:12717436 PMID:12960218 PMID:15240615 More... NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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
RGD
PMID:10802654 PMID:19336370 PMID:10802654 RGD:1601543 NCBI chr 9:21,786,250...21,815,785
Ensembl chr 9:21,786,258...21,814,520
JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: Patency of the ductus arteriosus ClinVar PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 More... NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
JBrowse link
G Traf1 TNF receptor-associated factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19336370 NCBI chr 3:18,222,024...18,242,163
Ensembl chr 3:18,222,054...18,241,807
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 OMIM
ClinVar
PMID:2010091 PMID:7645594 PMID:8326495 PMID:10368122 PMID:10802654 More... NCBI chr 9:21,786,250...21,815,785
Ensembl chr 9:21,786,258...21,814,520
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:25407000 PMID:27884122 PMID:28492532 PMID:29179725 More... NCBI chr10:528,961...655,179
Ensembl chr10:531,812...655,114
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:25407000 PMID:27884122 PMID:28492532 PMID:29179725 More... NCBI chr 1:96,447,224...96,501,464
Ensembl chr 1:96,447,251...96,501,464
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 chr10:1,779,834...1,946,586
Ensembl chr10:1,779,835...1,946,575
JBrowse link
G Cep20 centrosomal protein 20 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 ClinVar PMID:22318994 PMID:25407000 PMID:27884122 PMID:28492532 PMID:29179725 More... NCBI chr10:714,051...736,826
Ensembl chr10:714,151...736,837
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 chr10:888,053...932,760
Ensembl chr10:888,076...932,753
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 chr10:1,988,451...2,025,300
Ensembl chr10:1,988,136...2,007,649
JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 | ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus OMIM
ClinVar
PMID:7923625 PMID:9536098 PMID:10199307 PMID:10854329 PMID:11249915 More... NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
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:9536098 PMID:16444274 PMID:17576681 PMID:18391202 PMID:20226094 More... NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869
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 term: MYDRIASIS, CONGENITAL, WITH PATENT DUCTUS ARTERIOSUS, THORACIC AORTIC ANEURYSM, AND VASCULOPATHY | ClinVar Annotator: match by term: Multisystemic smooth muscle dysfunction syndrome OMIM
ClinVar
PMID:10532176 PMID:13129918 PMID:15138499 PMID:15472996 PMID:19409525 More... NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
JBrowse link
G Fas Fas cell surface death receptor ISO ClinVar Annotator: match by term: Multisystemic smooth muscle dysfunction syndrome ClinVar NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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 OMIM
ClinVar
PMID:15684060 PMID:18752453 PMID:21643846 NCBI chr 9:21,786,250...21,815,785
Ensembl chr 9:21,786,258...21,814,520
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 OMIM
ClinVar
PMID:25741868 PMID:27181681 NCBI chr18:46,904,115...47,008,482
Ensembl chr18:46,904,127...47,007,823
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    Developmental Disease 12907
      congenital heart disease 1194
        patent ductus arteriosus 24
          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 18145
    Developmental Disease 12907
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11612
        Congenital Abnormalities 6747
          Cardiovascular Abnormalities 1256
            congenital heart disease 1194
              patent ductus arteriosus 24
                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