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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 PMID:8514866 PMID:8881656 PMID:8990011 PMID:9036918 PMID:9399899 PMID:10706896 PMID:10923041 PMID:16751282 PMID:17053184 PMID:18043893 PMID:18272325 PMID:19011090 PMID:19344236 PMID:19424605 PMID:20052764 PMID:21086191 PMID:21520333 PMID:21533953 PMID:21637106 PMID:21984974 PMID:22001912 PMID:22019127 PMID:22713205 PMID:23148498 PMID:23234825 PMID:24033266 PMID:24036952 PMID:24055113 PMID:24399159 PMID:24922459 PMID:25503501 PMID:25637381 PMID:25741868 PMID:25758994 PMID:25776230 PMID:25834947 PMID:25846194 PMID:25944730 PMID:26017485 PMID:26188975 PMID:26332594 PMID:26854089 PMID:27011056 PMID:27153395 PMID:27306637 PMID:27888582 PMID:27964749 PMID:28492532 PMID:28655553 PMID:28748566 PMID:29543232 PMID:29778910 PMID:30115950 PMID:30122538 PMID:30374176 PMID:30379966 PMID:30793832 PMID:30919682 PMID:31719132 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
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 OMIM
ClinVar
PMID:9050868 PMID:11577371 PMID:19455184 PMID:25205403 PMID:25741868 PMID:25758994 PMID:28258187 PMID:28492532 PMID:28742248 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      Ehlers-Danlos syndrome 104
        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 16085
    disease of anatomical entity 15340
      Hemic and Lymphatic Diseases 2075
        hematopoietic system disease 1659
          blood coagulation disease 627
            hemorrhagic disease 614
              vascular hemostatic disease 298
                Ehlers-Danlos syndrome 104
                  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