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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: Angiokeratoma of skin;   Angiokeratomas;   Cutaneous Angiokeratoma;   skin angiokeratoma
 primary_id: MESH:D000794;   RDO:0004850
 xref: 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 ISO CTD Direct Evidence: therapeutic CTD PMID:19925601 NCBI chr  X:75,311,536...75,320,391
Ensembl chr  X:75,311,536...75,320,249
JBrowse link
G NAGA alpha-N-acetylgalactosaminidase ISO Kanzaki Disease, OMIM:609242, DNA:point mutation:exon:R329W RGD PMID:8040340 RGD:1600558 NCBI chr10:23,303,950...23,312,409
Ensembl chr10:23,304,354...23,396,068
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12699
    disease of cellular proliferation 5499
      Neoplasms by Histologic Type 3539
        Vascular Tissue Neoplasms 129
          angiokeratoma 2
            angiokeratoma circumscriptum 0
            angiokeratoma of mibelli 0
Path 2
Term Annotations click to browse term
  disease 12699
    disease of anatomical entity 12239
      nervous system disease 10001
        sensory system disease 4836
          skin disease 2530
            Skin Neoplasms 238
              skin benign neoplasm 67
                skin hemangioma 17
                  angiokeratoma 2
                    angiokeratoma circumscriptum 0
                    angiokeratoma of mibelli 0
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.