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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:An autosomal dominantly inherited skin disorder characterized by recurrent eruptions of vesicles and BULLAE mainly on the neck, axillae, and groin. Mutations in the ATP2C1 gene (encoding the secretory pathway Ca2++/Mn2++ ATPase 1 (SPCA1)) cause this disease. It is clinically and histologically similar to DARIER DISEASE - both have abnormal, unstable DESMOSOMES between KERATINOCYTES and defective CALCIUM-TRANSPORTING ATPASES. It is unrelated to PEMPHIGUS VULGARIS though it closely resembles that disease.
Synonyms:exact_synonym: BCPM;   HHD;   benign chronic pemphigus;   benign familial pemphigus;   familial benign chronic pemphigus
 primary_id: MESH:D016506
 alt_id: OMIM:169600;   RDO:0006961
 xref: GARD:6559;   NCI:C82865
For additional species annotation, visit the Alliance of Genome Resources.

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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 ClinVar Annotator: match by OMIM:169600
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial benign pemphigus		 OMIM
ClinVar
CTD		 PMID:3978039 PMID:10615129 PMID:10767338 PMID:11450592 PMID:11874499 PMID:15545997 PMID:16621454 PMID:20338123 PMID:21883398 PMID:25741868 PMID:28492532 NCBI chr 8:113,953,959...114,039,965
Ensembl chr 8:113,955,647...114,013,623 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    sensory system disease 5245
      skin disease 2715
        Genetic Skin Diseases 893
          Hailey-Hailey disease 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      Immune & Inflammatory Diseases 3585
        immune system disease 2954
          primary immunodeficiency disease 2373
            autoimmune disease 1693
              autoimmune disease of musculoskeletal system 942
                autoimmune disease of skin and connective tissue 186
                  pemphigus 13
                    Hailey-Hailey disease 1
paths to the root