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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.


show annotations for term's descendants           Sort by:
 
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 IAGP ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:25741868 NCBI chr 7:92,245,974...92,401,383
Ensembl chr 7:92,245,974...92,401,383
JBrowse link
G KRIT1 KRIT1 ankyrin repeat containing IAGP ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:20419355 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:92,198,969...92,246,100
Ensembl chr 7:92,131,774...92,245,924
Ensembl chr 7:92,131,774...92,245,924
JBrowse link
G LOC113748416 Sharpr-MPRA regulatory region 5961 IAGP ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:25741868 NCBI chr 7:92,245,795...92,246,089 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19905
    disease of anatomical entity 18516
      cardiovascular system disease 3917
        vascular disease 2811
          Vascular Fistula 16
            Arteriovenous Fistula 16
              Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas 3
Path 2
Term Annotations click to browse term
  disease 19905
    disease of anatomical entity 18516
      nervous system disease 14515
        central nervous system disease 12755
          brain disease 11998
            Metabolic Brain Diseases 653
              Metabolic Brain Diseases, Inborn 581
                Lysosomal Storage Diseases, Nervous System 73
                  sphingolipidosis 56
                    Fabry disease 11
                      Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas 3
paths to the root