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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: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
For additional species annotation, visit the Alliance of Genome Resources.


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acrokeratosis verruciformis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2a2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Acrokeratosis verruciformis of Hopf ClinVar
OMIM
PMID:12542527, PMID:20518781 NCBI chr12:39,553,903...39,603,326
Ensembl chr12:39,553,903...39,603,326
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    sensory system disease 5213
      skin disease 2758
        keratosis 187
          acrokeratosis verruciformis 1
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                acrokeratosis verruciformis 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.