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ONTOLOGY REPORT - ANNOTATIONS


Term:Hereditary Hemorrhagic Telangiectasia, Type 1
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Accession:DOID:9002350 term browser browse the term
Definition:Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia leading to telangiectases and arteriovenous malformations of skin, mucosa, and viscera. Epistaxis and gastrointestinal bleeding are frequent complications of mucosal involvement. Visceral involvement includes that of the lung, liver, and brain. The most frequent form of hereditary hemorrhagic telangiectasia maps to the long arm of chromosome 9. Hereditary hemorrhagic telangiectasia type 1 (HHT1) is caused by heterozygous mutation in the gene encoding endoglin (ENG) on chromosome 9q34. (OMIM)
Synonyms:exact_synonym: HHT1;   Haemorrhagic Telangiectasia 1
 primary_id: OMIM:187300
 alt_id: RDO:9000767
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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:11041166
RGD:7240710
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

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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 1 4
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 1 4
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.