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vascular type Ehlers-Danlos syndrome - Ontology Report - Rat Genome Database

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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;   Ehlers-Danlos syndrome type IV;   autosomal dominant type IV Ehlers-Danlos syndrome
 broad_synonym: COL3A1-RELATED CONDITION
 primary_id: MIM: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 N Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: COL3A1-related condition | ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type | ClinVar Annotator: match by term: Ehlers Danlos syndrome, arterial type | ClinVar Annotator: match by term: Ehlers Danlos syndrome, ecchymotic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome vascular type OMIM
ClinVar		 PMID:1352273 PMID:1556139 PMID:1939638 PMID:2049575 PMID:2235526 More... NCBI chrNW_004624899:1,192,078...1,230,528
Ensembl chrNW_004624899:1,192,360...1,230,404 		JBrowse link
G G COL3A1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: COL3A1-related condition | ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type | ClinVar Annotator: match by term: Ehlers Danlos syndrome, arterial type | ClinVar Annotator: match by term: Ehlers Danlos syndrome, ecchymotic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome vascular type OMIM
ClinVar		 PMID:1352273 PMID:1556139 PMID:1939638 PMID:2049575 PMID:2235526 More... NCBI chr10:74,455,133...74,493,392 JBrowse link
G P COL3A1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: COL3A1-related condition | ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type | ClinVar Annotator: match by term: Ehlers Danlos syndrome, arterial type | ClinVar Annotator: match by term: Ehlers Danlos syndrome, ecchymotic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome vascular type OMIM
ClinVar		 PMID:1352273 PMID:1556139 PMID:1939638 PMID:2049575 PMID:2235526 More... NCBI chr15:93,556,914...93,595,678
Ensembl chr15:93,526,603...93,596,363 		JBrowse link
G S Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: COL3A1-related condition | ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type | ClinVar Annotator: match by term: Ehlers Danlos syndrome, arterial type | ClinVar Annotator: match by term: Ehlers Danlos syndrome, ecchymotic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome vascular type OMIM
ClinVar		 PMID:1352273 PMID:1556139 PMID:1939638 PMID:2049575 PMID:2235526 More... NCBI chrNW_004936506:8,886,494...8,923,921
Ensembl chrNW_004936506:8,886,494...8,923,930 		JBrowse link
G D COL3A1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: COL3A1-related condition | ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type | ClinVar Annotator: match by term: Ehlers Danlos syndrome, arterial type | ClinVar Annotator: match by term: Ehlers Danlos syndrome, ecchymotic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome vascular type OMIM
ClinVar		 PMID:1352273 PMID:1556139 PMID:1939638 PMID:2049575 PMID:2235526 More... NCBI chr36:30,488,250...30,526,367
Ensembl chr36:30,488,488...30,536,765 		JBrowse link
G B COL3A1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: COL3A1-related condition | ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type | ClinVar Annotator: match by term: Ehlers Danlos syndrome, arterial type | ClinVar Annotator: match by term: Ehlers Danlos syndrome, ecchymotic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome vascular type OMIM
ClinVar		 PMID:1352273 PMID:1556139 PMID:1939638 PMID:2049575 PMID:2235526 More... NCBI chr2B:76,285,115...76,322,703
Ensembl chr2B:194,204,613...194,242,956 		JBrowse link
G C Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: COL3A1-related condition | ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type | ClinVar Annotator: match by term: Ehlers Danlos syndrome, arterial type | ClinVar Annotator: match by term: Ehlers Danlos syndrome, ecchymotic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome vascular type OMIM
ClinVar		 PMID:1352273 PMID:1556139 PMID:1939638 PMID:2049575 PMID:2235526 More... NCBI chrNW_004955403:9,720,831...9,758,019
Ensembl chrNW_004955403:9,721,114...9,757,887 		JBrowse link
G R Col3a1 collagen type III alpha 1 chain ISO
ISS		 ClinVar Annotator: match by term: COL3A1-related condition | ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type | ClinVar Annotator: match by term: Ehlers Danlos syndrome, arterial type | ClinVar Annotator: match by term: Ehlers Danlos syndrome, ecchymotic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome vascular type
OMIM:130050		 OMIM
ClinVar
MouseDO		 PMID:1352273 PMID:1556139 PMID:1939638 PMID:2049575 PMID:2235526 More... NCBI chr 9:54,866,646...54,902,578
Ensembl chr 9:47,374,593...47,410,547 		JBrowse link
G M Col3a1 collagen, type III, alpha 1 IAGP
ISO		 OMIM:130050
ClinVar Annotator: match by term: COL3A1-related condition | ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type | ClinVar Annotator: match by term: Ehlers Danlos syndrome, arterial type | ClinVar Annotator: match by term: Ehlers Danlos syndrome, ecchymotic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome vascular type		 MouseDO
ClinVar
OMIM		 PMID:1352273 PMID:1556139 PMID:1939638 PMID:2049575 PMID:2235526 More... NCBI chr 1:45,350,698...45,388,866
Ensembl chr 1:45,350,698...45,388,866 		JBrowse link
G H COL3A1 collagen type III alpha 1 chain IAGP
ISS		 ClinVar Annotator: match by term: COL3A1-related condition | ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type | ClinVar Annotator: match by term: Ehlers Danlos syndrome, arterial type | ClinVar Annotator: match by term: Ehlers Danlos syndrome, ecchymotic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome vascular type
ClinVar Annotator: match by term: COL3A1-related condition | ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type | ClinVar Annotator: match by term: Ehlers Danlos syndrome, ecchymotic type
ClinVar Annotator: match by term: COL3A1-related condition | ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type | ClinVar Annotator: match by term: Ehlers Danlos syndrome, ecchymotic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome vascular type
OMIM:130050		 OMIM
ClinVar
MouseDO		 PMID:1352273 PMID:1556139 PMID:1939638 PMID:2049575 PMID:2235526 More... NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746 		JBrowse link
G H LOC126806446 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:189866210-189867409 IAGP ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type
ClinVar Annotator: match by term: COL3A1-related condition | ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type		 ClinVar PMID:1939638 PMID:2243125 PMID:2934645 PMID:7695699 PMID:8218237 More... NCBI chr 2:189,001,484...189,002,683 JBrowse link
G H MIR3606 microRNA 3606 IAGP ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:188,995,630...188,995,692
Ensembl chr 2:188,995,630...188,995,692 		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 N 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:2049575 PMID:2235526 PMID:2934645 PMID:7695699 PMID:8218237 More... NCBI chrNW_004624899:1,192,078...1,230,528
Ensembl chrNW_004624899:1,192,360...1,230,404 		JBrowse link
G 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:2049575 PMID:2235526 PMID:2934645 PMID:7695699 PMID:8218237 More... NCBI chr10:74,455,133...74,493,392 JBrowse link
G P 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:2049575 PMID:2235526 PMID:2934645 PMID:7695699 PMID:8218237 More... NCBI chr15:93,556,914...93,595,678
Ensembl chr15:93,526,603...93,596,363 		JBrowse link
G S 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:2049575 PMID:2235526 PMID:2934645 PMID:7695699 PMID:8218237 More... NCBI chrNW_004936506:8,886,494...8,923,921
Ensembl chrNW_004936506:8,886,494...8,923,930 		JBrowse link
G D 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:2049575 PMID:2235526 PMID:2934645 PMID:7695699 PMID:8218237 More... NCBI chr36:30,488,250...30,526,367
Ensembl chr36:30,488,488...30,536,765 		JBrowse link
G B 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:2049575 PMID:2235526 PMID:2934645 PMID:7695699 PMID:8218237 More... NCBI chr2B:76,285,115...76,322,703
Ensembl chr2B:194,204,613...194,242,956 		JBrowse link
G C 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:2049575 PMID:2235526 PMID:2934645 PMID:7695699 PMID:8218237 More... NCBI chrNW_004955403:9,720,831...9,758,019
Ensembl chrNW_004955403:9,721,114...9,757,887 		JBrowse link
G R 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:2049575 PMID:2235526 PMID:2934645 PMID:7695699 PMID:8218237 More... NCBI chr 9:54,866,646...54,902,578
Ensembl chr 9:47,374,593...47,410,547 		JBrowse link
G M Col3a1 collagen, type III, alpha 1 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:2049575 PMID:2235526 PMID:2934645 PMID:7695699 PMID:8218237 More... NCBI chr 1:45,350,698...45,388,866
Ensembl chr 1:45,350,698...45,388,866 		JBrowse link
G H COL3A1 collagen type III alpha 1 chain IAGP 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 | ClinVar Annotator: match by term: Polymicrogyria with or without vascular-type ehlers-danlos syndrome		 OMIM
ClinVar		 PMID:2049575 PMID:2235526 PMID:2934645 PMID:7695699 PMID:8218237 More... NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746 		JBrowse link
G H LOC126806446 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:189866210-189867409 IAGP ClinVar Annotator: match by term: Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:189,001,484...189,002,683 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    syndrome 133013
      Ehlers-Danlos syndrome 2574
        Ehlers-Danlos Syndrome Type 4 49
          vascular type Ehlers-Danlos syndrome 18
            Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome 11
Path 2
Term Annotations click to browse term
  disease 288179
    Pathological Conditions, Signs and Symptoms 178736
      Signs and Symptoms 137100
        Neurologic Manifestations 126178
          sensory system disease 89068
            skin disease 49602
              Genetic Skin Diseases 19506
                Ehlers-Danlos syndrome 2574
                  Ehlers-Danlos Syndrome Type 4 49
                    vascular type Ehlers-Danlos syndrome 18
                      Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome 11
paths to the root