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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 ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type OMIM
ClinVar
PMID:2049575 PMID:2235526 PMID:2349939 PMID:7695699 PMID:8218237 More... NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
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 ClinVar Annotator: match by term: POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME
ClinVar Annotator: match by term: Polymicrogyria with or without vascular-type ehlers-danlos syndrome
OMIM
ClinVar
PMID:2235526 PMID:9050868 PMID:9536098 PMID:11577371 PMID:17576681 More... NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    syndrome 8170
      Ehlers-Danlos syndrome 116
        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 17286
    disease of anatomical entity 16621
      Hemic and Lymphatic Diseases 2338
        hematopoietic system disease 1914
          blood coagulation disease 651
            hemorrhagic disease 641
              vascular hemostatic disease 318
                Ehlers-Danlos syndrome 116
                  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