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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
 xref: EFO:1000666
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 OMIM
ClinVar		 PMID:12542527 PMID:20518781 PMID:24033266 PMID:25741868 PMID:26467025 More... NCBI chr12:34,072,710...34,122,142
Ensembl chr12:34,072,683...34,122,101 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20988
    sensory system disease 7132
      skin disease 4324
        keratosis 178
          acrokeratosis verruciformis 1
Path 2
Term Annotations click to browse term
  disease 20988
    Developmental Disease 18234
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18064
        genetic disease 17984
          monogenic disease 10259
            autosomal genetic disease 9395
              autosomal dominant disease 6400
                acrokeratosis verruciformis 1
paths to the root