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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:Cor pulmonale
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Accession:DOID:8515 term browser browse the term
Definition:Hypertrophy and dilation of the RIGHT VENTRICLE of the heart that is caused by PULMONARY HYPERTENSION. This condition is often associated with pulmonary parenchymal or vascular diseases, such as CHRONIC OBSTRUCTIVE PULMONARY DISEASE and PULMONARY EMBOLISM.
Synonyms:exact_synonym: Pulmonary Heart Diseases;   cardiopulmonary disease;   pulmonary heart disease
 primary_id: MESH:D011660
 alt_id: RDO:0006439
 xref: ICD10CM:I27.81
For additional species annotation, visit the Alliance of Genome Resources.


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Cor pulmonale term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ager advanced glycosylation end product-specific receptor ISO RGD PMID:21450080 RGD:6767563 NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 ISO RGD PMID:20669672 RGD:4143386 NCBI chr19:10,644,267...10,654,861
Ensembl chr19:10,644,244...10,653,800
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum RGD PMID:20669672 RGD:4143386 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar
PMID:11015450 PMID:11115378 PMID:12358323 PMID:16429395 PMID:16429403 PMID:16717148 PMID:16728714 PMID:19324947 PMID:19555857 PMID:20096498 PMID:20534176 PMID:21801371 PMID:24033266 PMID:25460361 PMID:25741868 PMID:26387786 PMID:26820968 PMID:28492532 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 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 Kcnk3 potassium two pore domain channel subfamily K member 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:27,154,274...27,190,209
Ensembl chr 6:27,151,612...27,190,132
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 Smad9 SMAD family member 9 ISO CTD Direct Evidence: marker/mechanism 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 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
Primary Pulmonary Hypertension, 1 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: Pulmonary Hypertension, Primary, 1 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 Bmpr2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia
ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1
ClinVar
OMIM
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:25429696 PMID:25612240 PMID:25688877 PMID:25741868 PMID:25917481 PMID:26387786 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 Eng endoglin ISO ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1 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 Kcna5 potassium voltage-gated channel subfamily A member 5 ISO ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1 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: Pulmonary Hypertension, Primary, 1 ClinVar 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: Pulmonary Hypertension, Primary, 1 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 Smad1 SMAD family member 1 ISO ClinVar Annotator: match by term: Pulmonary Hypertension, Primary, 1 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: Pulmonary Hypertension, Primary, 1 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: Pulmonary Hypertension, Primary, 1 ClinVar 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: Pulmonary Hypertension, Primary, 1 ClinVar PMID:25741868 PMID:31151956 NCBI chr10:73,331,864...73,362,784
Ensembl chr10:73,333,119...73,362,783
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 16085
    disease of anatomical entity 15340
      cardiovascular system disease 4413
        heart disease 2673
          congestive heart failure 384
            Cor pulmonale 25
              acute pulmonary heart disease + 0
              chronic pulmonary heart disease + 22
paths to the root