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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:primary pulmonary hypertension
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Accession:DOID:14557 term browser browse the term
Definition:Familial or idiopathic hypertension in the PULMONARY CIRCULATION which is not secondary to other disease.
Synonyms:exact_synonym: Heritable Pulmonary Arterial Hypertension;   IDIOPATHIC AND/OR FAMILIAL PULMONARY ARTERIAL HYPERTENSION;   Idiopathic Pulmonary Arterial Hypertension;   Idiopathic Pulmonary Hypertension;   Idiopathic Pulmonary Hypertensions;   Primary Pulmonary Hypertensions;   familial primary pulmonary hypertension;   primary pulmonary hypertension, dexfenfluramine-associated;   primary pulmonary hypertension, fenfluramine-associated
 primary_id: MESH:D065627
 alt_id: RDO:0015976
 xref: ICD10CM:I27.0;   ICD9CM:416.0;   NCI:C121945;   NCI:C97119;   OMIM:PS178600;   ORDO:422
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
primary pulmonary hypertension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvrl1 activin A receptor like type 1 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:9245985, PMID:12700602, PMID:14684682, PMID:15024723, PMID:15879500, PMID:15880681, PMID:16429404, PMID:16470787, PMID:16540754, PMID:16705692, PMID:18159113, PMID:19555857, PMID:20414677, PMID:20501893, PMID:21158752, PMID:22632830, PMID:23298310, PMID:23722869, PMID:24753439, PMID:25741868, PMID:26387786, PMID:27316748, PMID:28492532, PMID:29449337, PMID:32581362 NCBI chr 7:142,769,942...142,787,336
Ensembl chr 7:142,776,252...142,787,335
JBrowse link
G Adora2a adenosine A2a receptor ISS OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 MouseDO NCBI chr20:14,265,251...14,282,873
Ensembl chr20:14,265,252...14,282,873
JBrowse link
G Bmpr2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension
ClinVar Annotator: match by term: Pulmonary hypertension, primary, dexfenfluramine-associated
ClinVar Annotator: match by term: Pulmonary hypertension, primary, fenfluramine-associated
ClinVar Annotator: match by term: Idiopathic and/or familial pulmonary arterial hypertension
ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:3291115, PMID:10903931, PMID:10973254, PMID:11015450, PMID:11115378, PMID:11502704, PMID:12045205, PMID:12139571, PMID:12358323, PMID:12446270, PMID:12821254, PMID:14516151, PMID:14583445, PMID:14985116, PMID:15055271, PMID:15059534, PMID:15146475, PMID:15170098, PMID:15358693, PMID:15591269, PMID:15687131, PMID:15775752, PMID:15965979, PMID:16429395, PMID:16429403, PMID:16717148, PMID:16728714, PMID:18159113, PMID:18221724, PMID:18356561, PMID:18364108, PMID:18386374, PMID:18503968, PMID:18792970, PMID:19206171, PMID:19223935, PMID:19324947, PMID:19555857, PMID:19844076, PMID:20002458, PMID:20095988, PMID:20096498, PMID:20496075, PMID:20534176, PMID:21070126, PMID:21228398, PMID:21737554, PMID:21801371, PMID:22632830, PMID:22995991, PMID:23139147, PMID:23298310, PMID:23579436, PMID:23592887, PMID:23675998, PMID:24033266, PMID:24591673, PMID:24853021, PMID:24936649, PMID:25326637, PMID:25429696, PMID:25460361, PMID:25612240, PMID:25688877, PMID:25741868, PMID:25917481, PMID:26387786, PMID:26820968, PMID:27453251, PMID:27630060, PMID:27884767, PMID:28388887, PMID:28492532, PMID:28507310, PMID:29631995, PMID:29650961, PMID:29743074, PMID:29843651, PMID:30029678, PMID:30311386, PMID:30578397, PMID:32581362 NCBI chr 9:66,568,074...66,683,019
Ensembl chr 9:66,568,074...66,676,494
JBrowse link
G Cav1 caveolin 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:18498373, PMID:23298310, PMID:24033266, PMID:25741868, PMID:26167679, PMID:26387786, PMID:28492532, PMID:30029678 NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
JBrowse link
G Foxf1 forkhead box F1 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:19500772, PMID:19592680, PMID:19812545, PMID:20425831, PMID:22766610, PMID:23034409, PMID:23074687, PMID:23335808, PMID:23505205, PMID:23943206, PMID:24033266, PMID:24842713, PMID:26462560 NCBI chr19:53,012,306...53,016,100
Ensembl chr19:53,012,332...53,016,086
JBrowse link
G Hdac1 histone deacetylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22711276 NCBI chr 5:147,716,664...147,743,723
Ensembl chr 5:147,716,664...147,743,723
JBrowse link
G Hdac4 histone deacetylase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22711276 NCBI chr 9:99,052,945...99,299,715
Ensembl chr 9:99,057,089...99,299,715
JBrowse link
G Hdac5 histone deacetylase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22711276 NCBI chr10:90,140,183...90,169,853
Ensembl chr10:90,140,183...90,151,042
JBrowse link
G Id1 inhibitor of DNA binding 1, HLH protein ISO protein:decreased expression:lung, wall of arteriole (human) RGD PMID:20522807 RGD:9686087 NCBI chr 3:148,214,623...148,216,715
Ensembl chr 3:148,215,540...148,216,718
JBrowse link
G Kcna5 potassium voltage-gated channel subfamily A member 5 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:20018952, PMID:21685056, PMID:23861362, PMID:24068186, PMID:25076992, PMID:28492532 NCBI chr 4:159,077,195...159,079,003
Ensembl chr 4:159,077,195...159,079,003
JBrowse link
G Kcnk3 potassium two pore domain channel subfamily K member 3 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:23883380 NCBI chr 6:27,154,274...27,190,209
Ensembl chr 6:27,151,612...27,190,132
JBrowse link
G Nop58 NOP58 ribonucleoprotein ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:23579436, PMID:26387786 NCBI chr 9:66,495,881...66,520,521
Ensembl chr 9:66,495,832...66,519,788
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISS OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 MouseDO NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
G Smad1 SMAD family member 1 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:21898662, PMID:26387786 NCBI chr19:32,182,942...32,248,694
Ensembl chr19:32,188,267...32,248,684
JBrowse link
G Smad4 SMAD family member 4 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:21898662, PMID:24728327, PMID:25502805, PMID:25741868, PMID:26387786, PMID:28492532 NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
JBrowse link
G Smad9 SMAD family member 9 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr 2:143,951,725...144,002,025
Ensembl chr 2:144,191,846...144,212,138
Ensembl chr 2:144,191,846...144,212,138
JBrowse link
G Tbx4 T-box transcription factor 4 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension ClinVar PMID:25741868, PMID:31151956 NCBI chr10:73,331,864...73,362,784
Ensembl chr10:73,333,119...73,362,783
JBrowse link
G Tnfsf4 TNF superfamily member 4 ISS OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 MouseDO NCBI chr13:79,269,973...79,293,775
Ensembl chr13:79,269,973...79,293,778
JBrowse link
G Vip vasoactive intestinal peptide ISS OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344 MouseDO NCBI chr 1:42,169,307...42,177,582
Ensembl chr 1:42,169,501...42,177,582
JBrowse link
Neonatal Pulmonary Hypertension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cps1 carbamoyl-phosphate synthase 1 susceptibility ISO ClinVar Annotator: match by term: Pulmonary hypertension, neonatal, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:11407344, PMID:14718356, PMID:15465784, PMID:16708072, PMID:20154341, PMID:21767969 NCBI chr 9:74,113,437...74,236,274
Ensembl chr 9:74,124,016...74,236,274
JBrowse link
Primary Pulmonary Hypertension, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia ClinVar
OMIM
PMID:18792970, PMID:21801371, PMID:23298310, PMID:26387786 NCBI chr 9:66,568,074...66,683,019
Ensembl chr 9:66,568,074...66,676,494
JBrowse link
Primary Pulmonary Hypertension, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad9 SMAD family member 9 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension 2 OMIM
ClinVar
PMID:19211612, PMID:21898662, PMID:21920918, PMID:24033266, PMID:28492532 NCBI chr 2:143,951,725...144,002,025
Ensembl chr 2:144,191,846...144,212,138
Ensembl chr 2:144,191,846...144,212,138
JBrowse link
Primary Pulmonary Hypertension, 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr1b bone morphogenetic protein receptor type 1B ISO ClinVar Annotator: match by term: Primary pulmonary hypertension 3 ClinVar PMID:25741868 NCBI chr 2:247,392,195...247,662,026
Ensembl chr 2:247,403,920...247,446,882
JBrowse link
G Cav1 caveolin 1 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension 3
ClinVar Annotator: match by OMIM:615343
OMIM
ClinVar
PMID:22474227, PMID:25741868, PMID:26387786, PMID:28492532, PMID:29231014 NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
JBrowse link
Primary Pulmonary Hypertension, 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnk3 potassium two pore domain channel subfamily K member 3 ISO ClinVar Annotator: match by term: Primary pulmonary hypertension 4
ClinVar Annotator: match by OMIM:615344
OMIM
ClinVar
PMID:23883380, PMID:25741868, PMID:26387786, PMID:28492532 NCBI chr 6:27,154,274...27,190,209
Ensembl chr 6:27,151,612...27,190,132
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      respiratory system disease 2739
        lung disease 1633
          pulmonary hypertension 302
            primary pulmonary hypertension 22
              Neonatal Pulmonary Hypertension 1
              Primary Pulmonary Hypertension, 1 1
              Primary Pulmonary Hypertension, 2 1
              Primary Pulmonary Hypertension, 3 2
              Primary Pulmonary Hypertension, 4 1
              Primary Pulmonary Hypertension, Autosomal Recessive 0
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      cardiovascular system disease 4478
        heart disease 2664
          congestive heart failure 385
            Cor pulmonale 25
              chronic pulmonary heart disease 22
                primary pulmonary hypertension 22
                  Neonatal Pulmonary Hypertension 1
                  Primary Pulmonary Hypertension, 1 1
                  Primary Pulmonary Hypertension, 2 1
                  Primary Pulmonary Hypertension, 3 2
                  Primary Pulmonary Hypertension, 4 1
                  Primary Pulmonary Hypertension, Autosomal Recessive 0
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.