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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:vascular type Ehlers-Danlos syndrome
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Accession:DOID:14756 term browser browse the term
Definition:An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL3A1 gene on chromosome 2q32 and that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits. (DO)
Synonyms:exact_synonym: EDSVASC;   Ehlers Danlos Syndrome, arterial type;   Ehlers Danlos syndrome, Ecchymotic type;   Ehlers Danlos syndrome, Sack Barabas type;   autosomal dominant type IV Ehlers-Danlos syndrome
 primary_id: OMIM:130050
 xref: GARD:2082;   NCI:C125699;   ORDO:286
For additional species annotation, visit the Alliance of Genome Resources.


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vascular type Ehlers-Danlos syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col3a1 collagen type III alpha 1 chain ISO OMIM NCBI chrNW_004936506:8,886,494...8,923,921 JBrowse link
Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col3a1 collagen type III alpha 1 chain ISO OMIM NCBI chrNW_004936506:8,886,494...8,923,921 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12837
    syndrome 6582
      Ehlers-Danlos syndrome 107
        Ehlers-Danlos Syndrome Type 4 4
          vascular type Ehlers-Danlos syndrome 1
            Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome 1
Path 2
Term Annotations click to browse term
  disease 12837
    disease of anatomical entity 12515
      Hemic and Lymphatic Diseases 1871
        hematopoietic system disease 1521
          blood coagulation disease 557
            hemorrhagic disease 547
              vascular hemostatic disease 280
                Ehlers-Danlos syndrome 107
                  Ehlers-Danlos Syndrome Type 4 4
                    vascular type Ehlers-Danlos syndrome 1
                      Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome 1
paths to the root