ONTOLOGY REPORT - ANNOTATIONS


Term:hereditary hemorrhagic telangiectasia
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Accession:DOID:1270 term browser browse the term
Definition:An autosomal dominant vascular anomaly characterized by telangiectases of the skin and mucous membranes and by recurrent gastrointestinal bleeding. This disorder is caused by mutations of a gene (on chromosome 9q3) which encodes endoglin, a membrane glycoprotein that binds TRANSFORMING GROWTH FACTOR BETA.
Synonyms:exact_synonym: HHT;   Osler Disease;   Osler Rendu Disease;   Osler Rendu Weber Disease;   Osler Weber Rendu syndrome;   Osler's Disease;   Rendu Osler Weber;   Weber Osler;   hereditary hemorrhagic telangiectasia, of Rendu, Osler, and Weber
 related_synonym: OSLER HEMORRHAGIC TELANGIECTASIA SYNDROME
 primary_id: MESH:D013683
 alt_id: RDO:0002917
 xref: GARD:6626;   OMIM:PS187300;   ORDO:774
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hereditary hemorrhagic telangiectasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acvrl1 activin A receptor like type 1 JBrowse link 7 142,769,942 142,787,336 RGD:1300352
RGD:8554872
RGD:11554173
G Eng endoglin JBrowse link 3 11,679,530 11,717,486 RGD:1601038
RGD:8554872
RGD:11035216
RGD:11554173
RGD:11041566
RGD:11041563
RGD:11041183
RGD:11041169
RGD:1300352
G Gdf2 growth differentiation factor 2 JBrowse link 16 10,267,510 10,293,545 RGD:11554173
G Smad4 SMAD family member 4 JBrowse link 18 69,626,682 69,657,373 RGD:11035218
RGD:8554872
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:10450733
Hereditary Hemorrhagic Telangiectasia, Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acvrl1 activin A receptor like type 1 JBrowse link 7 142,769,942 142,787,336 RGD:8554872
G Eng endoglin JBrowse link 3 11,679,530 11,717,486 RGD:8554872
RGD:7240710
RGD:11041166
G Smad4 SMAD family member 4 JBrowse link 18 69,626,682 69,657,373 RGD:8554872
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:11041166
Hereditary Hemorrhagic Telangiectasia, Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acvrl1 activin A receptor like type 1 JBrowse link 7 142,769,942 142,787,336 RGD:7240710
RGD:8554872
RGD:10769364
RGD:11035213
RGD:11035214
RGD:11035216
G Eng endoglin JBrowse link 3 11,679,530 11,717,486 RGD:8554872
Hereditary Hemorrhagic Telangiectasia, Type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf2 growth differentiation factor 2 JBrowse link 16 10,267,510 10,293,545 RGD:7240710
RGD:8554872
Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smad3 SMAD family member 3 JBrowse link 8 68,569,530 68,678,349 RGD:8554872
G Smad4 SMAD family member 4 JBrowse link 18 69,626,682 69,657,373 RGD:7240710
RGD:8554872
RGD:11062720
RGD:11070199

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      hematopoietic system disease 1375
        hemorrhagic disease 378
          vascular hemostatic disease 184
            hereditary hemorrhagic telangiectasia 7
              Hereditary Hemorrhagic Telangiectasia, Type 1 4
              Hereditary Hemorrhagic Telangiectasia, Type 2 2
              Hereditary Hemorrhagic Telangiectasia, Type 3 0
              Hereditary Hemorrhagic Telangiectasia, Type 4 0
              Hereditary Hemorrhagic Telangiectasia, Type 5 1
              Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia 2
Path 2
Term Annotations click to browse term
  disease 14920
    Developmental Diseases 7769
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7091
        genetic disease 6451
          monogenic disease 3222
            autosomal genetic disease 2160
              autosomal dominant disease 1111
                hereditary hemorrhagic telangiectasia 7
                  Hereditary Hemorrhagic Telangiectasia, Type 1 4
                  Hereditary Hemorrhagic Telangiectasia, Type 2 2
                  Hereditary Hemorrhagic Telangiectasia, Type 3 0
                  Hereditary Hemorrhagic Telangiectasia, Type 4 0
                  Hereditary Hemorrhagic Telangiectasia, Type 5 1
                  Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.