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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;   Familial Benign Chronic Pemphigus;   HHD;   benign chronic pemphigus;   benign familial pemphigus
 primary_id: MESH:D016506
 alt_id: OMIM:169600;   RDO:0006961
 xref: GARD:6559
For additional species annotation, visit the Alliance of Genome Resources.


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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 14759
    sensory system disease 4231
      skin disease 2240
        Genetic Skin Diseases 576
          Hailey-Hailey disease 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        sensory system disease 4231
          skin disease 2240
            Infectious Skin Diseases 137
              cellulitis 41
                bullous skin disease 20
                  pemphigus 13
                    Hailey-Hailey disease 1
paths to the root