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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 7
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Accession:DOID:9003195 term browser browse the term
Definition:An autosomal dominant disorder characterized by onset of recurrent episodic swelling of the face, lips, and oral mucosa in the second decade. Caused by heterozygous mutation in the MYOF gene on chromosome 10q24.
Synonyms:exact_synonym: HAE7;   MYOF-RELATED CONDITION
 primary_id: MIM:619366


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Hereditary Angioedema 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myof myoferlin ISO ClinVar Annotator: match by term: Angioedema, hereditary, 7 | ClinVar Annotator: match by term: MYOF-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32542751 NCBI chr 1:235,673,666...235,822,413
Ensembl chr 1:235,673,666...235,822,334 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    sensory system disease 7326
      skin disease 4308
        vascular skin disease 249
          angioedema 18
            hereditary angioedema 11
              Hereditary Angioedema 7 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14333
        Neurologic Manifestations 10417
          sensory system disease 7326
            skin disease 4308
              vascular skin disease 249
                angioedema 18
                  hereditary angioedema 11
                    Hereditary Angioedema 7 1
paths to the root