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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: MIM:607411
 xref: GARD:7342;   ICD10CM:Q25.0;   ICD9CM:747.0;   MIM:PS607411;   NCI:C84492;   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 IAGP ClinVar Annotator: match by term: Patency of the ductus arteriosus ClinVar PMID:22608503 PMID:22610116 PMID:23307537 PMID:25741868 PMID:25790160 More... NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543 		JBrowse link
G AGTR1 angiotensin II receptor type 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12904590 PMID:19336370 NCBI chr 3:148,697,903...148,743,003
Ensembl chr 3:148,697,784...148,743,008 		JBrowse link
G BMP2 bone morphogenetic protein 2 IAGP ClinVar Annotator: match by term: PDA1 ClinVar NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246 		JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP ClinVar Annotator: match by term: Patency of the ductus arteriosus ClinVar PMID:15786477 PMID:19668216 PMID:25741868 PMID:26748598 PMID:27401686 More... NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845 		JBrowse link
G MYH11 myosin heavy chain 11 IAGP DNA:mutation:cds:c.4599+1delG (human) RGD PMID:16444274 PMID:27418595 RGD:1580903, RGD:155883161 NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,858,438 		JBrowse link
G MYOCD myocardin ISS OMIM:607411 MouseDO NCBI chr17:12,665,890...12,768,949
Ensembl chr17:12,665,890...12,768,949 		JBrowse link
G NPPA natriuretic peptide A EXP CTD Direct Evidence: marker/mechanism CTD PMID:1421905 NCBI chr 1:11,845,709...11,847,783
Ensembl chr 1:11,845,709...11,848,345 		JBrowse link
G PTGER4 prostaglandin E receptor 4 ISO RGD PMID:9600059 RGD:10003086 NCBI chr 5:40,679,915...40,746,800
Ensembl chr 5:40,679,915...40,693,735 		JBrowse link
G PTGIS prostaglandin I2 synthase susceptibility EXP
IAGP		 CTD Direct Evidence: marker/mechanism
DNA:SNP, haplotype:intron: (rs493694) (human)		 CTD
RGD		 PMID:19336370 PMID:19336370 RGD:401959325 NCBI chr20:49,503,874...49,568,137
Ensembl chr20:49,503,874...49,568,137 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP ClinVar Annotator: match by term: Patency of the ductus arteriosus ClinVar PMID:11992261 PMID:12325025 PMID:12634870 PMID:12717436 PMID:12960218 More... NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G SOX17 SRY-box transcription factor 17 IAGP DNA:nonsense mutation:CDS:p.E185* (human) RGD PMID:33794346 RGD:329853328 NCBI chr 8:54,457,935...54,460,892
Ensembl chr 8:54,457,935...54,460,892 		JBrowse link
G TFAP2B transcription factor AP-2 beta susceptibility IAGP
ISS
EXP		 Char Syndrome, OMIM:169100;DNA:missense mutations:p.A264D, p.R289C
OMIM:607411
CTD Direct Evidence: marker/mechanism		 MouseDO
CTD
RGD		 PMID:10802654 PMID:19336370 PMID:10802654 RGD:1601543 NCBI chr 6:50,818,355...50,847,619
Ensembl chr 6:50,818,723...50,847,619 		JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B IAGP ClinVar Annotator: match by term: Patency of the ductus arteriosus ClinVar PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 More... NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118 		JBrowse link
G TRAF1 TNF receptor associated factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19336370 NCBI chr 9:120,902,393...120,929,171
Ensembl chr 9:120,902,393...120,929,173 		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 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Char syndrome
OMIM:169100
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:2010091 PMID:7645594 PMID:8326495 PMID:10368122 PMID:10802654 More... NCBI chr 6:50,818,355...50,847,619
Ensembl chr 6:50,818,723...50,847,619 		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 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 ClinVar PMID:22318994 PMID:27884122 PMID:28492532 PMID:29179725 NCBI chr16:15,434,588...15,588,259
Ensembl chr16:15,434,475...15,625,028 		JBrowse link
G CEP20 centrosomal protein 20 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 ClinVar PMID:22318994 PMID:27884122 PMID:28492532 PMID:29179725 NCBI chr16:15,865,719...15,888,603
Ensembl chr16:15,865,719...15,888,625 		JBrowse link
G LOC113939949 Sharpr-MPRA regulatory region 5546 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 ClinVar PMID:22318994 PMID:25407000 PMID:27884122 PMID:28492532 PMID:29179725 More... NCBI chr16:15,765,912...15,766,206 JBrowse link
G MARF1 meiosis regulator and mRNA stability factor 1 IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 ClinVar PMID:22318994 PMID:27884122 PMID:28492532 PMID:29179725 NCBI chr16:15,594,387...15,643,154
Ensembl chr16:15,594,387...15,643,154 		JBrowse link
G MPV17L MPV17 mitochondrial inner membrane protein like IAGP ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 ClinVar PMID:22318994 PMID:27884122 PMID:28492532 PMID:29179725 NCBI chr16:15,395,754...15,413,271
Ensembl chr16:15,395,754...15,413,271 		JBrowse link
G MYH11 myosin heavy chain 11 IAGP
EXP		 ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 | ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus		 ClinVar
OMIM
CTD		 PMID:9536098 PMID:11249915 PMID:16199547 PMID:16444274 PMID:17576681 More... NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,858,438 		JBrowse link
G NDE1 nudE neurodevelopment protein 1 IAGP 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 term: Aortic aneurysm/aortic dissection and patent ductus arteriosus		 ClinVar PMID:9536098 PMID:16199547 PMID:16444274 PMID:17576681 PMID:18391202 More... NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691 		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 IAGP 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
ClinVar Annotator: match by term: SMOOTH MUSCLE DYSFUNCTION SYNDROME
ClinVar Annotator: match by term: MYDRIASIS, CONGENITAL, WITH PATENT DUCTUS ARTERIOSUS, THORACIC AORTIC ANEURYSM, AND VASCULOPATHY | ClinVar Annotator: match by term: SMOOTH MUSCLE DYSFUNCTION SYNDROME
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 chr10:88,935,074...88,991,337
Ensembl chr10:88,934,822...88,991,339 		JBrowse link
G ACTA2-AS1 ACTA2 antisense RNA 1 IAGP 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
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 PMID:646322 PMID:19409525 PMID:21248741 PMID:25741868 PMID:25759435 More... NCBI chr10:88,932,684...88,939,974
Ensembl chr10:88,932,390...88,940,820 		JBrowse link
G FAS Fas cell surface death receptor IAGP ClinVar Annotator: match by term: Multisystemic smooth muscle dysfunction syndrome ClinVar NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		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 IAGP ClinVar Annotator: match by term: Patent ductus arteriosus 2 ClinVar
OMIM		 PMID:15684060 PMID:18752453 PMID:20301285 PMID:21643846 NCBI chr 6:50,818,355...50,847,619
Ensembl chr 6:50,818,723...50,847,619 		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 IAGP ClinVar Annotator: match by term: Patent ductus arteriosus 3 OMIM
ClinVar		 PMID:25741868 PMID:27181681 NCBI chr 5:123,089,241...123,194,266
Ensembl chr 5:123,089,241...123,194,266 		JBrowse link
G PRDM6-AS1 PRDM6 antisense RNA 1 IAGP ClinVar Annotator: match by term: Patent ductus arteriosus 3 ClinVar PMID:25741868 NCBI chr 5:123,086,231...123,090,316 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97557
    Developmental Disease 35231
      congenital heart disease 2004
        patent ductus arteriosus 25
          Char syndrome 1
          Familial Thoracic Aortic Aneurysm 4 7
          Gorlin Chaudhry Moss Syndrome 0
          Intestinal Pseudoobstruction with Patent Ductus Arteriosus and Natal Teeth 0
          Multisystemic Smooth Muscle Dysfunction Syndrome 3
          Patent Ductus Arteriosus 2 1
          Patent Ductus Arteriosus 3 2
          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 97557
    Developmental Disease 35231
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 28744
        Congenital Abnormalities 15056
          Cardiovascular Abnormalities 2221
            congenital heart disease 2004
              patent ductus arteriosus 25
                Char syndrome 1
                Familial Thoracic Aortic Aneurysm 4 7
                Gorlin Chaudhry Moss Syndrome 0
                Intestinal Pseudoobstruction with Patent Ductus Arteriosus and Natal Teeth 0
                Multisystemic Smooth Muscle Dysfunction Syndrome 3
                Patent Ductus Arteriosus 2 1
                Patent Ductus Arteriosus 3 2
                Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies 0
                Ramos Arroyo Clark Syndrome 0
paths to the root