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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 16021
    disease of anatomical entity 15274
      hematopoietic system disease 1595
        hemorrhagic disease 590
          vascular hemostatic disease 297
            hereditary hemorrhagic telangiectasia 6
              Hereditary Hemorrhagic Telangiectasia, Type 2 2
Path 2
Term Annotations click to browse term
  disease 16021
    Developmental Diseases 9337
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8165
        genetic disease 7689
          monogenic disease 5447
            autosomal genetic disease 4411
              autosomal dominant disease 2754
                hereditary hemorrhagic telangiectasia 6
                  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.