ONTOLOGY REPORT - ANNOTATIONS


Term:Hereditary Hemorrhagic Telangiectasia, Type 2
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Accession:DOID:9005819 term browser browse the term
Synonyms:exact_synonym: HHT2 PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED,;   Osler-Rendu-Weber Syndrome 2;   TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II
 narrow_synonym: Haemorrhagic telangiectasia 2;   LIP TELANGIECTASIA;   ORAL CAVITY TELANGIECTASIA
 primary_id: MESH:C537139
 alt_id: OMIM:600376;   RDO:0002916
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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

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 2 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 2 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.