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ONTOLOGY REPORT - ANNOTATIONS


Term:acrokeratosis verruciformis
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Accession:DOID:0050606 term browser browse the term
Definition:A keratosis that has_material_basis_in mutations in the ATP2A2 gene. (DO)
Synonyms:exact_synonym: AKV;   Hopf acrokeratosis verruciformis;   Hopf disease;   acrokeratosis verruciformis of Hopf
 primary_id: OMIM:101900
 alt_id: RDO:9003111
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acrokeratosis verruciformis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 JBrowse link 12 39,553,903 39,603,326 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    sensory system disease 4674
      skin disease 2461
        keratosis 127
          acrokeratosis verruciformis 1
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal dominant disease 2079
                acrokeratosis verruciformis 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.