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Hereditary Angioedema 6 - Ontology Report - Rat Genome Database

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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
 broad_synonym: KNG1-RELATED CONDITION
 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 PMID:37992228 NCBI chr11:91,317,354...91,340,148
Ensembl chr11:77,812,752...77,835,555 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    sensory system disease 7381
      skin disease 4322
        vascular skin disease 249
          angioedema 18
            hereditary angioedema 11
              Hereditary Angioedema 6 1
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        Neurologic Manifestations 10464
          sensory system disease 7381
            skin disease 4322
              vascular skin disease 249
                angioedema 18
                  hereditary angioedema 11
                    Hereditary Angioedema 6 1
paths to the root