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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Hereditary Hemorrhagic Telangiectasia, Type 5
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Accession:DOID:9001906 term browser browse the term
Synonyms:exact_synonym: HHT5
 primary_id: OMIM:615506

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Hereditary Hemorrhagic Telangiectasia, Type 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf2 growth differentiation factor 2 ISO ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 5 OMIM
ClinVar		 PMID:23972370 PMID:25741868 PMID:26801773 PMID:27081547 PMID:28492532 More... NCBI chrNW_004936554:7,307,461...7,322,048
Ensembl chrNW_004936554:7,316,435...7,322,060 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      cardiovascular system disease 4133
        Cardiovascular Abnormalities 1470
          Vascular Malformations 117
            hereditary hemorrhagic telangiectasia 14
              Hereditary Hemorrhagic Telangiectasia, Type 5 1
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        genetic disease 16311
          monogenic disease 9607
            autosomal genetic disease 8891
              autosomal dominant disease 5828
                hereditary hemorrhagic telangiectasia 14
                  Hereditary Hemorrhagic Telangiectasia, Type 5 1
paths to the root