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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 chr 4:27,473,477...27,597,206
Ensembl chr 4:27,473,477...27,597,206
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 chr 4:27,438,609...27,473,150
Ensembl chr 4:27,438,609...27,473,150
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      cardiovascular system disease 4399
        vascular disease 3323
          Vascular Fistula 15
            Arteriovenous Fistula 15
              Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas 2
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        central nervous system disease 10197
          brain disease 9570
            Metabolic Brain Diseases 587
              Metabolic Brain Diseases, Inborn 517
                Lysosomal Storage Diseases, Nervous System 66
                  sphingolipidosis 50
                    Fabry disease 9
                      Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas 2
paths to the root