ONTOLOGY REPORT - ANNOTATIONS


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
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Hailey-Hailey disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp2c1 ATPase secretory pathway Ca2+ transporting 1 JBrowse link 8 113,953,959 114,039,965 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    sensory system disease 4246
      skin disease 2253
        Genetic Skin Diseases 580
          Hailey-Hailey disease 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          skin disease 2253
            Infectious Skin Diseases 137
              cellulitis 41
                bullous skin disease 20
                  pemphigus 13
                    Hailey-Hailey disease 1
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