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ONTOLOGY REPORT - ANNOTATIONS


Term:pulmonary valve stenosis
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Accession:DOID:6420 term browser browse the term
Definition:The pathologic narrowing of the orifice of the PULMONARY VALVE. This lesion restricts blood outflow from the RIGHT VENTRICLE to the PULMONARY ARTERY. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete.
Synonyms:exact_synonym: Pulmonary Stenose;   Pulmonary Stenoses;   Pulmonary Stenosis;   Pulmonary Valve Stenoses;   Pulmonic Stenoses;   Pulmonic Stenosis;   valvular pulmonic stenoses;   valvular pulmonic stenosis
 primary_id: MESH:D011666
 alt_id: OMIM:265500;   RDO:0001489
 xref: GARD:4596
For additional species annotation, visit the Alliance of Genome Resources.


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pulmonary valve stenosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Braf B-Raf proto-oncogene, serine/threonine kinase JBrowse link 4 67,389,331 67,520,549 RGD:8554872
G Gata4 GATA binding protein 4 JBrowse link 15 46,386,703 46,458,679 RGD:8554872
G Hras HRas proto-oncogene, GTPase JBrowse link 1 214,178,404 214,181,841 RGD:8554872
G Lrrc56 leucine rich repeat containing 56 JBrowse link 1 214,182,232 214,197,184 RGD:8554872
G Myh11 myosin heavy chain 11 JBrowse link 10 764,421 859,184 RGD:8554872
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 JBrowse link 6 3,105,443 3,182,977 RGD:8554872
G Zfp526 zinc finger protein 526 JBrowse link 1 82,088,955 82,097,444 RGD:8554872
Keutel Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mgp matrix Gla protein JBrowse link 4 170,856,783 170,860,105 RGD:1600783
RGD:7240710
RGD:8554872
RGD:11554173
LEOPARD syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Braf B-Raf proto-oncogene, serine/threonine kinase JBrowse link 4 67,389,331 67,520,549 RGD:8554872
G Epha2 Eph receptor A2 JBrowse link 5 159,845,773 159,874,203 RGD:11554173
G Map2k2 mitogen activated protein kinase kinase 2 JBrowse link 7 11,458,971 11,478,520 RGD:8554872
G Ppp1r13l protein phosphatase 1, regulatory subunit 13 like JBrowse link 1 80,271,288 80,290,946 RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:11554173
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:1601571
RGD:8554872
RGD:11062587
RGD:11062391
RGD:11070277
RGD:11554173
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase JBrowse link 4 147,532,040 147,592,769 RGD:8554872
RGD:11554173
G Rpl6 ribosomal protein L6 JBrowse link 12 40,877,578 40,882,032 RGD:8554872
LEOPARD syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:7240710
RGD:8554872
LEOPARD syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase JBrowse link 4 147,532,040 147,592,769 RGD:7240710
RGD:8554872
LEOPARD syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Braf B-Raf proto-oncogene, serine/threonine kinase JBrowse link 4 67,389,331 67,520,549 RGD:7240710
RGD:8554872
Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Igfbp7 insulin-like growth factor binding protein 7 JBrowse link 14 33,010,300 33,070,193 RGD:7240710
RGD:8554872
tetralogy of Fallot term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actn2 actinin alpha 2 JBrowse link 17 66,304,530 66,397,647 RGD:8554872
G Bmp10 bone morphogenetic protein 10 JBrowse link 4 119,224,906 119,230,534 RGD:13592920
G Cers1 ceramide synthase 1 JBrowse link 16 20,845,580 20,860,789 RGD:8554872
G Cited2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 JBrowse link 1 12,823,363 12,825,806 RGD:13592920
G Creld1 cysteine-rich with EGF-like domains 1 JBrowse link 4 145,440,284 145,449,894 RGD:8554872
G Dnah5 dynein, axonemal, heavy chain 5 JBrowse link 2
2
80,947,730
81,159,060
81,143,997
81,337,560
RGD:13592920
G Dock1 dedicator of cyto-kinesis 1 JBrowse link 1 206,900,617 207,414,852 RGD:13592920
G Ephb4 EPH receptor B4 JBrowse link 12 22,393,338 22,418,332 RGD:8554872
G Fgf8 fibroblast growth factor 8 JBrowse link 1 265,492,949 265,498,965 RGD:13592920
G Flt4 Fms related receptor tyrosine kinase 4 JBrowse link 10 35,078,782 35,120,296 RGD:11554173
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:11554173
G Foxc2 forkhead box C2 JBrowse link 19 53,044,379 53,047,081 RGD:11554173
G Foxh1 forkhead box H1 JBrowse link 7 117,730,307 117,733,076 RGD:11554173
G Gata4 GATA binding protein 4 JBrowse link 15 46,386,703 46,458,679 RGD:7240710
RGD:8554872
G Gata6 GATA binding protein 6 JBrowse link 18 2,415,821 2,447,087 RGD:7240710
RGD:8554872
G Gdf1 growth differentiation factor 1 JBrowse link 16 20,845,580 20,860,789 RGD:11554173
RGD:8554872
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:1582666
G Gja5 gap junction protein, alpha 5 JBrowse link 2 199,162,745 199,184,942 RGD:7207464
RGD:13592920
G Hand2 heart and neural crest derivatives expressed 2 JBrowse link 16 36,371,489 36,373,551 RGD:11554173
G Hey2 hes-related family bHLH transcription factor with YRPW motif 2 JBrowse link 1 29,191,170 29,201,257 RGD:13592920
G Invs inversin JBrowse link 5 64,031,131 64,180,830 RGD:13592920
G Irx4 iroquois homeobox 4 JBrowse link 1 32,634,774 32,645,151 RGD:8554872
G Jag1 jagged canonical Notch ligand 1 JBrowse link 3 130,079,361 130,114,781 RGD:1582344
RGD:8554872
RGD:11554173
RGD:7240710
G Mks1 MKS transition zone complex subunit 1 JBrowse link 10 75,149,814 75,160,481 RGD:13592920
G Mt-co1 mitochondrially encoded cytochrome c oxidase I JBrowse link MT 5,323 6,867 RGD:8554872
G Mt-co2 mitochondrially encoded cytochrome c oxidase II JBrowse link MT 7,006 7,689 RGD:8554872
G Mt-co3 mitochondrially encoded cytochrome c oxidase III JBrowse link MT 8,599 9,382 RGD:8554872
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 JBrowse link 6 99,282,850 99,350,367 RGD:12910957
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:11565105
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
G Nipbl NIPBL, cohesin loading factor JBrowse link 2 57,508,830 57,676,197 RGD:8554872
G Nkx2-5 NK2 homeobox 5 JBrowse link 10 16,635,989 16,638,758 RGD:1581133
RGD:8554872
RGD:7240710
G Notch1 notch receptor 1 JBrowse link 3 3,905,562 3,951,015 RGD:8554872
G Ntf3 neurotrophin 3 JBrowse link 4 158,636,883 158,705,886 RGD:13592920
G Phc1 polyhomeotic homolog 1 JBrowse link 4 155,093,947 155,118,838 RGD:13592920
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:12743641
G Ret ret proto-oncogene JBrowse link 4 150,202,170 150,249,196 RGD:8554872
G Tbx1 T-box transcription factor 1 JBrowse link 11 86,552,022 86,561,647 RGD:7240710
RGD:8554872
RGD:11554173
G Tpm1 tropomyosin 1 JBrowse link 8 72,814,737 72,841,496 RGD:8554872
G Zfpm2 zinc finger protein, multitype 2 JBrowse link 7 79,471,277 79,964,405 RGD:1580641
RGD:8554872
RGD:7240710
Watson Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nf1 neurofibromin 1 JBrowse link 10 66,732,460 66,928,706 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15502
    disease of anatomical entity 14856
      cardiovascular system disease 4237
        heart disease 2463
          Ventricular Outflow Obstruction 278
            pulmonary valve stenosis 55
              Ciuffo Syndrome 0
              Hordnes Engebretsen Knudtson syndrome 0
              Keutel Syndrome 1
              LEOPARD syndrome + 8
              Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 0
              Pulmonic Stenosis and Congenital Nephrosis 0
              Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis 1
              Watson Syndrome 1
              pulmonary subvalvular stenosis 0
              tetralogy of Fallot + 40
Path 2
Term Annotations click to browse term
  disease 15502
    disease of anatomical entity 14856
      cardiovascular system disease 4237
        heart disease 2463
          heart valve disease 343
            pulmonary valve disease 55
              pulmonary valve stenosis 55
                Ciuffo Syndrome 0
                Hordnes Engebretsen Knudtson syndrome 0
                Keutel Syndrome 1
                LEOPARD syndrome + 8
                Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 0
                Pulmonic Stenosis and Congenital Nephrosis 0
                Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis 1
                Watson Syndrome 1
                pulmonary subvalvular stenosis 0
                tetralogy of Fallot + 40
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.