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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;   Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins;   Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins And Other Congenital Anomalies;   Congenital alveolar capillary dysplasia;   Familial Persistent Pulmonary Hypertension of the Newborn;   Fetal circulation;   Misalignment of the Pulmonary Vessels;   Persistent Fetal Circulation;   Persistent Pulmonary Hypertension of Newborn;   Persistent foetal circulation;   congenital alveolar capillary dysplasia with misalignment of pulmonary veins;   persistent foetal circulation syndrome;   persistent pulmonary hypertension of the newborn
 primary_id: MESH:C536590;   MESH:D010547;   RDO:0002218
 alt_id: OMIM:265380;   RDO:0002217
 xref: 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 Adad2 adenosine deaminase domain containing 2 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome 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: Persistent fetal circulation syndrome ClinVar NCBI chr19:47,754,120...47,811,369
Ensembl chr19:47,754,120...47,811,368
JBrowse link
G Cibar2 CBY1 interacting BAR domain containing 2 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome 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: Persistent fetal circulation syndrome 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: Persistent fetal circulation syndrome 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: Persistent fetal circulation syndrome 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: Persistent fetal circulation syndrome 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: Persistent fetal circulation syndrome ClinVar NCBI chr19:48,708,304...48,721,626
Ensembl chr19:48,582,574...48,721,543
JBrowse link
G Fendrr FOXF1 adjacent non-coding developmental regulatory RNA ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar PMID:25741868 NCBI chr19:49,127,225...49,152,779 JBrowse link
G Foxf1 forkhead box F1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome
ClinVar Annotator: match by OMIM:265380
OMIM
ClinVar
PMID:15520767 PMID:19500772 PMID:23505205 PMID:24033266 PMID:25741868 More... NCBI chr19:49,153,729...49,157,741
Ensembl chr19:49,153,699...49,157,738
JBrowse link
G Gins2 GINS complex subunit 2 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome 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: Persistent fetal circulation syndrome 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: Persistent fetal circulation syndrome 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: Persistent fetal circulation syndrome ClinVar NCBI chr19:48,790,483...48,812,363
Ensembl chr19:48,790,588...48,811,829
JBrowse link
G Kcng4 potassium voltage-gated channel modifier subfamily G member 4 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome 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: Persistent fetal circulation syndrome ClinVar NCBI chr19:47,921,590...47,942,627
Ensembl chr19:47,921,590...47,942,620
JBrowse link
G Mbtps1 membrane-bound transcription factor peptidase, site 1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome 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: Persistent fetal circulation syndrome 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: Persistent fetal circulation syndrome ClinVar NCBI chr19:47,447,931...47,463,794
Ensembl chr19:47,447,970...47,463,793
JBrowse link
G Necab2 N-terminal EF-hand calcium binding protein 2 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome 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: Persistent fetal circulation syndrome 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 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G RGD1304884 similar to RIKEN cDNA 6430548M08 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:48,168,651...48,216,571
Ensembl chr19:48,198,209...48,216,575
JBrowse link
G RGD1309651 similar to 1190005I06Rik protein ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:48,660,288...48,686,569
Ensembl chr19:48,660,288...48,686,349
JBrowse link
G Slc38a8 solute carrier family 38, member 8 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome 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 8:58,549,743...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: Persistent fetal circulation syndrome 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: Persistent fetal circulation syndrome 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: Persistent fetal circulation syndrome ClinVar NCBI chr19:47,720,191...47,739,121
Ensembl chr19:47,720,423...47,739,108
JBrowse link
G Zdhhc7 zinc finger DHHC-type palmitoyltransferase 7 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome 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 17289
    syndrome 8166
      persistent fetal circulation syndrome 32
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      cardiovascular system disease 4526
        vascular disease 3440
          artery disease 2405
            hypertension 1509
              pulmonary hypertension 305
                persistent fetal circulation syndrome 32
paths to the root