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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:23307537 PMID:25741868 PMID:25790160 More... NCBI chr27:25,199,580...25,352,637
Ensembl chr27:25,200,418...25,388,477 		JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12904590 PMID:19336370 NCBI chr23:43,569,658...43,617,113
Ensembl chr23:43,614,035...43,616,238 		JBrowse link
G BMP2 bone morphogenetic protein 2 ISO ClinVar Annotator: match by term: PDA1 ClinVar NCBI chr24:15,199,667...15,211,509
Ensembl chr24:15,200,291...15,212,217 		JBrowse link
G MYH11 myosin heavy chain 11 ISO DNA:mutation:cds:c.4599+1delG (human) RGD PMID:16444274 PMID:27418595 RGD:155883161 RGD:1580903 NCBI chr 6:28,041,330...28,157,277
Ensembl chr 6:28,041,318...28,262,184 		JBrowse link
G MYOCD myocardin ISO OMIM:607411 MouseDO NCBI chr 5:36,674,476...36,774,435
Ensembl chr 5:36,674,300...36,769,327 		JBrowse link
G NPPA natriuretic peptide A ISO CTD Direct Evidence: marker/mechanism CTD PMID:1421905 NCBI chr 2:84,406,317...84,408,115
Ensembl chr 2:84,396,073...84,408,385 		JBrowse link
G PRDM6 PR/SET domain 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:12,942,789...13,046,278
Ensembl chr11:12,943,432...13,044,673 		JBrowse link
G PTGER4 prostaglandin E receptor 4 ISO RGD PMID:9600059 RGD:10003086 NCBI chr 4:68,663,362...68,676,241
Ensembl chr 4:68,663,364...68,676,358 		JBrowse link
G PTGIS prostaglandin I2 synthase susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP, haplotype:intron: (rs493694) (human)		 CTD
RGD		 PMID:19336370 RGD:401959325 NCBI chr24:36,129,091...36,162,525
Ensembl chr24:36,132,173...36,162,509 		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:12634870 PMID:12717436 PMID:12960218 More... NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481 		JBrowse link
G SOX17 SRY-box transcription factor 17 ISO DNA:nonsense mutation:CDS:p.E185* (human) RGD PMID:33794346 RGD:329853328 NCBI chr29:5,979,092...5,981,504
Ensembl chr29:5,979,261...5,981,124 		JBrowse link
G TFAP2B transcription factor AP-2 beta susceptibility ISO Char Syndrome, OMIM:169100;DNA:missense mutations:p.A264D, p.R289C
OMIM:607411
CTD Direct Evidence: marker/mechanism		 RGD
MouseDO
CTD		 PMID:10802654 PMID:19336370 RGD:1601543 NCBI chr12:18,544,176...18,574,300
Ensembl chr12:18,544,446...18,572,902 		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 chr 5:42,448,976...42,483,792
Ensembl chr 5:42,449,053...42,482,740 		JBrowse link
G TRAF1 TNF receptor associated factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19336370 NCBI chr11:73,920,729...73,939,644
Ensembl chr11:73,927,007...73,937,655 		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 chr12:18,544,176...18,574,300
Ensembl chr12:18,544,446...18,572,902 		JBrowse link
Familial Thoracic Aortic Aneurysm 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chr 6:28,242,190...28,356,218
Ensembl chr 6:28,225,677...28,357,180 		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 chr 6:28,016,253...28,035,117
Ensembl chr 6:28,016,317...28,033,720 		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 chr 6:28,194,771...28,231,908
Ensembl chr 6:28,041,318...28,262,184 		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 chr 6:28,385,199...28,393,560 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 chr 6:28,041,330...28,157,277
Ensembl chr 6:28,041,318...28,262,184 		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:9536098 PMID:16199547 PMID:16444274 PMID:17576681 PMID:18391202 More... NCBI chr 6:28,143,244...28,186,069
Ensembl chr 6:28,143,244...28,186,051 		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 | ClinVar Annotator: match by term: SMOOTH MUSCLE DYSFUNCTION SYNDROME OMIM
ClinVar		 PMID:646322 PMID:9536098 PMID:10532176 PMID:13129918 PMID:14730227 More... NCBI chr26:38,700,434...38,714,915
Ensembl chr26:38,700,480...38,711,753 		JBrowse link
G FAS Fas cell surface death receptor ISO ClinVar Annotator: match by term: Multisystemic smooth muscle dysfunction syndrome ClinVar NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321 		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:20301285 PMID:21643846 NCBI chr12:18,544,176...18,574,300
Ensembl chr12:18,544,446...18,572,902 		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 chr11:12,942,789...13,046,278
Ensembl chr11:12,943,432...13,044,673 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    Developmental Disease 17564
      congenital heart disease 1341
        patent ductus arteriosus 21
          Char syndrome 1
          Familial Thoracic Aortic Aneurysm 4 6
          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 17773
    Developmental Disease 17564
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17452
        Congenital Abnormalities 7452
          Cardiovascular Abnormalities 1537
            congenital heart disease 1341
              patent ductus arteriosus 21
                Char syndrome 1
                Familial Thoracic Aortic Aneurysm 4 6
                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