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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:angiokeratoma
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Accession:DOID:479 term browser browse the term
Definition:A vascular, horny neoplasm of the skin characterized by TELANGIECTASIS and secondary epithelial changes including acanthosis and hyperkeratosis.
Synonyms:exact_synonym: Angiokeratomas;   angiokeratoma of skin;   cutaneous angiokeratoma;   skin angiokeratoma
 primary_id: MESH:D000794
 xref: ICDO:9141/0;   NCI:C2874;   NCI:C4488
For additional species annotation, visit the Alliance of Genome Resources.


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angiokeratoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLA galactosidase alpha EXP CTD Direct Evidence: therapeutic CTD PMID:19925601 NCBI chr  X:101,397,803...101,407,925
Ensembl chr  X:101,393,273...101,408,012 		JBrowse link
G NAGA alpha-N-acetylgalactosaminidase IAGP Kanzaki Disease, OMIM:609242, DNA:point mutation:exon:R329W RGD PMID:8040340 RGD:1600558 NCBI chr22:42,058,334...42,070,842
Ensembl chr22:42,058,334...42,070,842 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 53596
    disease of cellular proliferation 12256
      Neoplasms by Histologic Type 8574
        Vascular Tissue Neoplasms 209
          angiokeratoma 2
            angiokeratoma circumscriptum 0
            angiokeratoma of mibelli 0
Path 2
Term Annotations click to browse term
  disease 53596
    disease of anatomical entity 49284
      nervous system disease 34048
        Neurologic Manifestations 18593
          sensory system disease 12827
            skin disease 6570
              Skin Neoplasms 617
                skin benign neoplasm 215
                  skin hemangioma 35
                    angiokeratoma 2
                      angiokeratoma circumscriptum 0
                      angiokeratoma of mibelli 0
paths to the root