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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



show annotations for term's descendants           Sort by:
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:22814319 PMID:24033266 PMID:25622760 More... NCBI chr12:34,072,710...34,122,142
Ensembl chr12:34,072,683...34,122,101
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6939
      skin disease 3960
        keratosis 185
          acrokeratosis verruciformis 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        genetic disease 18252
          monogenic disease 10362
            autosomal genetic disease 9515
              autosomal dominant disease 6235
                acrokeratosis verruciformis 1
paths to the root