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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:persistent fetal circulation syndrome
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Accession:DOID:13042 term browser browse the term
Definition:A syndrome of persistent PULMONARY HYPERTENSION in the newborn infant (INFANT, NEWBORN) without demonstrable HEART DISEASES. This neonatal condition can be caused by severe pulmonary vasoconstriction (reactive type), hypertrophy of pulmonary arterial muscle (hypertrophic type), or abnormally developed pulmonary arterioles (hypoplastic type). The newborn patient exhibits CYANOSIS and ACIDOSIS due to the persistence of fetal circulatory pattern of right-to-left shunting of blood through a patent ductus arteriosus (DUCTUS ARTERIOSUS, PATENT) and at times a patent foramen ovale (FORAMEN OVALE, PATENT).
Synonyms:exact_synonym: ACD MPV;   ACDMPV;   Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins And Other Congenital Anomalies;   Congenital alveolar capillary dysplasia;   Familial Persistent Pulmonary Hypertension of the Newborn;   Misalignment of the Pulmonary Vessels;   Persistent Fetal Circulation;   alveolar capillary dysplasia;   alveolar capillary dysplasia with misalignment of pulmonary veins;   congenital alveolar capillary dysplasia with misalignment of pulmonary veins;   fetal circulation;   persistent foetal circulation;   persistent foetal circulation syndrome;   persistent pulmonary hypertension of newborn;   persistent pulmonary hypertension of the newborn
 primary_id: MESH:C536590;   MESH:D010547
 alt_id: OMIM:265380
 xref: EFO:1001103;   ICD10CM:P29.3;   ICD10CM:P29.30;   ICD9CM:747.83;   NCI:C85006;   NCI:C98809
For additional species annotation, visit the Alliance of Genome Resources.


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persistent fetal circulation syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 6430548M08Rikl RIKEN cDNA 6430548M08 gene like ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr19:48,168,651...48,216,571
Ensembl chr19:48,198,209...48,216,575 		JBrowse link
G Adad2 adenosine deaminase domain containing 2 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr19:47,665,288...47,669,433
Ensembl chr19:47,665,309...47,669,436 		JBrowse link
G Atp2c2 ATPase secretory pathway Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr19:47,754,120...47,811,369
Ensembl chr19:47,754,120...47,811,368 		JBrowse link
G C19h16orf74 similar to human chromosome 16 open reading frame 74 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr19:48,660,288...48,686,287
Ensembl chr19:48,660,288...48,686,349 		JBrowse link
G C19h16orf95 similar to human chromosome 16 open reading frame 95 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr19:49,605,818...49,618,466
Ensembl chr19:49,605,818...49,618,702 		JBrowse link
G Cibar2 CBY1 interacting BAR domain containing 2 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr19:48,217,617...48,229,418
Ensembl chr19:48,215,486...48,229,404 		JBrowse link
G Cotl1 coactosin-like F-actin binding protein 1 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr19:47,871,689...47,906,010
Ensembl chr19:47,871,694...47,911,689 		JBrowse link
G Cox4i1 cytochrome c oxidase subunit 4i1 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr19:48,721,680...48,727,920
Ensembl chr19:48,721,199...48,727,921 		JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO CACD, OMIM:265380, DNA:polymorphism:T1405N
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:11407344 PMID:11407344 RGD:1600716 NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033 		JBrowse link
G Crispld2 cysteine-rich secretory protein LCCL domain containing 2 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr19:48,053,153...48,111,485
Ensembl chr19:48,053,287...48,110,465 		JBrowse link
G Dnaaf1 dynein, axonemal, assembly factor 1 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr19:47,624,534...47,652,314
Ensembl chr19:47,624,181...47,652,313 		JBrowse link
G Emc8 ER membrane protein complex subunit 8 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr19:48,708,304...48,721,626
Ensembl chr19:48,582,574...48,721,543 		JBrowse link
G Fbxo31 F-box protein 31 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr19:49,624,813...49,656,052
Ensembl chr19:49,627,686...49,656,010 		JBrowse link
G Fendrr FOXF1 adjacent non-coding developmental regulatory RNA ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar PMID:25741868 NCBI chr19:49,127,225...49,152,780
Ensembl chr19:49,121,214...49,153,240 		JBrowse link
G Foxc2 forkhead box C2 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr19:49,186,034...49,188,736
Ensembl chr19:49,185,662...49,188,737 		JBrowse link
G Foxf1 forkhead box F1 ISO
ISS		 ClinVar Annotator: match by term: ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS AND OTHER CONGENITAL ANOMALIES | ClinVar Annotator: match by term: Alveolar capillary dysplasia with misalignment of pulmonary veins | ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia
CTD Direct Evidence: marker/mechanism
OMIM:265380		 OMIM
ClinVar
CTD
MouseDO		 PMID:15520767 PMID:19500772 PMID:23505205 PMID:24033266 PMID:25741868 More... NCBI chr19:49,153,949...49,157,741
Ensembl chr19:49,153,699...49,157,738 		JBrowse link
G Foxl1 forkhead box L1 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr19:49,197,269...49,200,682
Ensembl chr19:49,197,400...49,198,425 		JBrowse link
G Gins2 GINS complex subunit 2 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr19:48,626,770...48,639,523
Ensembl chr19:48,626,770...48,639,339 		JBrowse link
G Gse1 Gse1 coiled-coil protein ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr19:48,274,164...48,629,456
Ensembl chr19:48,274,127...48,629,458 		JBrowse link
G Hsdl1 hydroxysteroid dehydrogenase like 1 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr19:47,615,794...47,631,892
Ensembl chr19:47,615,796...47,631,846 		JBrowse link
G Irf8 interferon regulatory factor 8 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr19:48,790,581...48,812,363
Ensembl chr19:48,790,588...48,811,829 		JBrowse link
G Itgam integrin subunit alpha M ISO DNA:missense mutation:CDS:p.E1071D (human) RGD PMID:32054482 RGD:329853760 NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503 		JBrowse link
G Jph3 junctophilin 3 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr19:49,793,967...49,855,338
Ensembl chr19:49,793,092...49,855,338 		JBrowse link
G Kcng4 potassium voltage-gated channel modifier subfamily G member 4 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr19:47,677,307...47,689,410
Ensembl chr19:47,677,327...47,689,268 		JBrowse link
G Klhl36 kelch-like family member 36 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr19:47,921,590...47,942,627
Ensembl chr19:47,921,590...47,942,620 		JBrowse link
G Map1lc3b microtubule-associated protein 1 light chain 3 beta ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr19:49,665,795...49,673,655
Ensembl chr19:49,665,791...49,677,690 		JBrowse link
G Mbtps1 membrane-bound transcription factor peptidase, site 1 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr19:47,561,598...47,612,769
Ensembl chr19:47,561,598...47,612,791 		JBrowse link
G Meak7 MTOR associated protein, eak-7 homolog ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr19:47,813,899...47,836,830
Ensembl chr19:47,811,416...47,841,278 		JBrowse link
G Mlycd malonyl-CoA decarboxylase ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr19:47,447,931...47,463,794
Ensembl chr19:47,447,970...47,463,793 		JBrowse link
G Mthfsd methenyltetrahydrofolate synthetase domain containing ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr19:49,164,266...49,178,233
Ensembl chr19:49,167,183...49,178,232 		JBrowse link
G Necab2 N-terminal EF-hand calcium binding protein 2 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr19:47,501,351...47,527,722
Ensembl chr19:47,501,302...47,527,684 		JBrowse link
G Nos3 nitric oxide synthase 3 ISS OMIM:265380 MouseDO NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Osgin1 oxidative stress induced growth inhibitor 1 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr19:47,471,750...47,500,517
Ensembl chr19:47,492,171...47,500,516 		JBrowse link
G Pten phosphatase and tensin homolog ISS OMIM:265380 MouseDO NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Slc38a8 solute carrier family 38, member 8 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr19:47,522,781...47,561,443
Ensembl chr19:47,525,301...47,554,726 		JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17273977 NCBI chr 8:58,548,899...58,568,861
Ensembl chr 8:58,549,736...58,568,860 		JBrowse link
G Taf1c TATA-box binding protein associated factor, RNA polymerase 1 subunit C ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr19:47,652,451...47,658,971
Ensembl chr19:47,652,452...47,658,971 		JBrowse link
G Usp10 ubiquitin specific peptidase 10 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr19:47,972,858...48,014,900
Ensembl chr19:47,972,611...48,014,897 		JBrowse link
G Wfdc1 WAP four-disulfide core domain 1 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr19:47,720,191...47,739,121
Ensembl chr19:47,720,423...47,739,108 		JBrowse link
G Zcchc14 zinc finger CCHC-type containing 14 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr19:49,674,185...49,718,004
Ensembl chr19:49,674,195...49,718,029 		JBrowse link
G Zdhhc7 zinc finger DHHC-type palmitoyltransferase 7 ISO ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia ClinVar NCBI chr19:48,139,309...48,156,673
Ensembl chr19:48,139,527...48,156,673 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      persistent fetal circulation syndrome 41
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      cardiovascular system disease 5412
        vascular disease 4012
          artery disease 2825
            hypertension 1728
              pulmonary hypertension 415
                persistent fetal circulation syndrome 41
paths to the root