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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 Corporis Diffusum with Arteriovenous Fistulas
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Accession:DOID:9000043 term browser browse the term
Synonyms:primary_id: MESH:C563940;   RDO:0013062
For additional species annotation, visit the Alliance of Genome Resources.


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Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankib1 ankyrin repeat and IBR domain containing 1 ISO ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:25741868 NCBI chrNW_004955432:9,220,318...9,358,728
Ensembl chrNW_004955432:9,220,318...9,358,728
JBrowse link
G Krit1 KRIT1 ankyrin repeat containing ISO ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:20419355 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004955432:9,168,678...9,219,947 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12528
    disease of anatomical entity 12209
      cardiovascular system disease 3144
        vascular disease 2252
          Vascular Fistula 14
            Arteriovenous Fistula 14
              Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas 2
Path 2
Term Annotations click to browse term
  disease 12528
    disease of anatomical entity 12209
      nervous system disease 10127
        central nervous system disease 8880
          brain disease 8337
            Metabolic Brain Diseases 530
              Metabolic Brain Diseases, Inborn 466
                Lysosomal Storage Diseases, Nervous System 62
                  sphingolipidosis 47
                    Fabry disease 8
                      Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas 2
paths to the root