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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 chr19:52,258,908...52,263,031
Ensembl chr19:52,258,947...52,262,959
JBrowse link
G Atp2c2 ATPase secretory pathway Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,347,480...52,404,608
Ensembl chr19:52,347,580...52,404,607
JBrowse link
G Cibar2 CBY1 interacting BAR domain containing 2 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:53,740,763...53,754,738
Ensembl chr19:53,743,383...53,754,602
JBrowse link
G Cotl1 coactosin-like F-actin binding protein 1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,465,074...52,499,433
Ensembl chr19:52,465,087...52,499,433
JBrowse link
G Cox4i1 cytochrome c oxidase subunit 4i1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:54,245,958...54,252,198
Ensembl chr19:54,245,950...54,252,225
JBrowse link
G Cps1 carbamoyl-phosphate synthase 1 ISO CACD, OMIM:265380, DNA:polymorphism:T1405N
CTD Direct Evidence: marker/mechanism
CTD PMID:11407344, PMID:11407344 RGD:1600716 NCBI chr 9:74,113,437...74,236,274
Ensembl chr 9:74,124,016...74,236,274
JBrowse link
G Crispld2 cysteine-rich secretory protein LCCL domain containing 2 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,647,038...52,705,118
Ensembl chr19:52,647,070...52,705,131
JBrowse link
G Dnaaf1 dynein, axonemal, assembly factor 1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,217,427...52,245,930
Ensembl chr19:52,217,984...52,245,929
JBrowse link
G Emc8 ER membrane protein complex subunit 8 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:54,235,949...54,245,810
Ensembl chr19:54,235,936...54,245,855
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 chr19:52,991,283...53,010,509 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, PMID:28492532, PMID:30380203 NCBI chr19:53,012,306...53,016,100
Ensembl chr19:53,012,332...53,016,086
JBrowse link
G Gins2 GINS complex subunit 2 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:54,151,048...54,163,701
Ensembl chr19:54,151,048...54,163,608
JBrowse link
G Gse1 Gse1 coiled-coil protein ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:53,799,945...54,153,732
Ensembl chr19:54,060,622...54,148,970
JBrowse link
G Hsdl1 hydroxysteroid dehydrogenase like 1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,209,403...52,225,486
Ensembl chr19:52,210,859...52,217,728
JBrowse link
G Irf8 interferon regulatory factor 8 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:54,314,859...54,336,643
Ensembl chr19:54,314,865...54,336,640
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 chr19:52,270,907...52,283,317
Ensembl chr19:52,270,927...52,282,877
JBrowse link
G Klhl36 kelch-like family member 36 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,515,022...52,536,055
Ensembl chr19:52,515,022...52,536,476
JBrowse link
G Mbtps1 membrane-bound transcription factor peptidase, site 1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,146,507...52,206,310
Ensembl chr19:52,146,808...52,206,310
JBrowse link
G Meak7 MTOR associated protein, eak-7 homolog ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,408,700...52,430,198
Ensembl chr19:52,408,917...52,424,318
JBrowse link
G Mlycd malonyl-CoA decarboxylase ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,032,950...52,048,773
Ensembl chr19:52,032,886...52,048,753
JBrowse link
G Necab2 N-terminal EF-hand calcium binding protein 2 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,086,325...52,112,633
Ensembl chr19:52,086,325...52,112,629
JBrowse link
G Nos3 nitric oxide synthase 3 ISS OMIM:265380 MouseDO NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Osgin1 oxidative stress induced growth inhibitor 1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,056,808...52,085,491
Ensembl chr19:52,077,109...52,085,496
JBrowse link
G Pten phosphatase and tensin homolog ISS OMIM:265380 MouseDO NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G RGD1304884 similar to RIKEN cDNA 6430548M08 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,763,352...53,742,184
Ensembl chr19:53,723,822...53,740,329
JBrowse link
G RGD1309651 similar to 1190005I06Rik protein ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:54,184,554...54,210,872
Ensembl chr19:54,184,946...54,210,515
JBrowse link
G Slc38a8 solute carrier family 38, member 8 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,110,517...52,142,500
Ensembl chr19:52,119,992...52,139,633
JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17273977 NCBI chr 8:62,925,364...62,944,438
Ensembl chr 8:62,925,357...62,944,437
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 chr19:52,246,061...52,252,642
Ensembl chr19:52,246,068...52,252,587
JBrowse link
G Usp10 ubiquitin specific peptidase 10 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,566,274...52,608,820
Ensembl chr19:52,566,607...52,608,817
JBrowse link
G Wfdc1 WAP four-disulfide core domain 1 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,313,771...52,332,721
Ensembl chr19:52,313,795...52,332,697
JBrowse link
G Zdhhc7 zinc finger DHHC-type palmitoyltransferase 7 ISO ClinVar Annotator: match by term: Persistent fetal circulation syndrome ClinVar NCBI chr19:52,733,161...52,750,307
Ensembl chr19:52,733,161...52,750,307
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      persistent fetal circulation syndrome 32
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      cardiovascular system disease 4454
        vascular disease 3386
          artery disease 2372
            hypertension 1502
              pulmonary hypertension 302
                persistent fetal circulation syndrome 32
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.