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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 Angioedema 6
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Accession:DOID:9002291 term browser browse the term
Definition:An autosomal dominant disorder characterized by onset of episodic subcutaneous and submucosal swelling in adulthood. Caused by heterozygous mutation in the KNG1 gene on chromosome 3q27. (OMIM)
Synonyms:exact_synonym: HAE6
 primary_id: MIM:619363


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Hereditary Angioedema 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kng1 kininogen 1 ISO ClinVar Annotator: match by term: Angioedema, hereditary, 6 OMIM
ClinVar		 PMID:25741868 PMID:31087670 PMID:33114181 NCBI chr16:22,876,970...22,900,828
Ensembl chr16:22,876,615...22,900,828 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16230
    sensory system disease 7138
      skin disease 4170
        vascular skin disease 250
          angioedema 17
            hereditary angioedema 11
              Hereditary Angioedema 6 1
Path 2
Term Annotations click to browse term
  disease 16230
    disease of anatomical entity 15849
      nervous system disease 13769
        Neurologic Manifestations 10167
          sensory system disease 7138
            skin disease 4170
              vascular skin disease 250
                angioedema 17
                  hereditary angioedema 11
                    Hereditary Angioedema 6 1
paths to the root