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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:cutaneous Paget's disease
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Accession:DOID:3450 term browser browse the term
Definition:A rare cutaneous neoplasm that occurs in the elderly. It develops more frequently in women and predominantly involves apocrine gland-bearing areas, especially the vulva, scrotum, and perianal areas. The lesions develop as erythematous scaly patches that progress to crusted, pruritic, erythematous plaques. The clinical differential diagnosis includes squamous cell carcinoma in situ and superficial fungal infection. It is generally thought to be an adenocarcinoma of the epidermis, from which it extends into the contiguous epithelium of hair follicles and eccrine sweat ducts. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1478)
Synonyms:exact_synonym: Extra Mammary Paget Disease;   Extra Mammary Paget's Disease;   Extra-Mammary Pagets Disease;   Extramammary Paget's Disease;   Extramammary Pagets Disease;   Paget Disease, Extramammary;   Paget's disease of skin;   cutaneous Paget disease
 primary_id: MESH:D010145
 alt_id: RDO:0006263
 xref: NCI:C3302
For additional species annotation, visit the Alliance of Genome Resources.


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cutaneous Paget's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha severity ISO DNA:mutations:multiple: RGD PMID:22522847 RGD:14402410 NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    disease of cellular proliferation 6943
      Neoplasms by Histologic Type 4764
        Glandular and Epithelial Neoplasms 3423
          Ductal, Lobular, and Medullary Neoplasms 261
            cutaneous Paget's disease 1
              anal Paget's disease + 0
              anal canal Paget's disease 0
              perianal skin Paget's disease 0
              scrotum Paget's disease 0
              vulval Paget's disease 0
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        sensory system disease 5580
          skin disease 2943
            Skin Neoplasms 249
              skin cancer 117
                skin carcinoma 54
                  cutaneous Paget's disease 1
                    anal Paget's disease + 0
                    anal canal Paget's disease 0
                    perianal skin Paget's disease 0
                    scrotum Paget's disease 0
                    vulval Paget's disease 0
paths to the root