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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:Hailey-Hailey disease
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Accession:DOID:0050429 term browser browse the term
Definition:A pemphigus that is characterized by recurring blistering most commonly occurring in the folds of the skin, particularly the groin and axillary regions, and has_material_basis_in mutations in the ATP2C1 gene that result in loss of adhesion within the skin. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected. (DO)
Synonyms:exact_synonym: ATP2C1-RELATED CONDITION;   BCPM;   HHD;   benign chronic pemphigus;   benign familial pemphigus;   familial benign chronic pemphigus
 primary_id: MESH:D016506
 alt_id: MIM:169600
 xref: GARD:6559;   NCI:C82865


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Hailey-Hailey disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2c1 ATPase secretory pathway Ca2+ transporting 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ATP2C1-related condition | ClinVar Annotator: match by term: Familial benign pemphigus		 OMIM
CTD
ClinVar		 PMID:3978039 PMID:10615129 PMID:10767338 PMID:11450592 PMID:11874499 More... NCBI chr 8:106,034,777...106,155,854
Ensembl chr 8:106,034,636...106,156,006 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    sensory system disease 7376
      skin disease 4320
        Genetic Skin Diseases 1889
          Hailey-Hailey disease 1
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      Immune & Inflammatory Diseases 5767
        immune system disease 5044
          primary immunodeficiency disease 4429
            autoimmune disease 2369
              autoimmune disease of musculoskeletal system 1004
                autoimmune disease of skin and connective tissue 194
                  pemphigus 13
                    Hailey-Hailey disease 1
paths to the root