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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:Ehlers-Danlos Syndrome Type 4
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Accession:DOID:9001287 term browser browse the term
Synonyms:exact_synonym: EDS IV;   EDS4;   Ehlers Danlos Syndrome, Type IV;   Ehlers-Danlos syndrome, Type 4 Variant
For additional species annotation, visit the Alliance of Genome Resources.


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Ehlers-Danlos Syndrome Type 4 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 Type IV
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4
ClinVar PMID:1352273 PMID:1357232 PMID:1370809 PMID:1496983 PMID:1568754 PMID:1619632 PMID:1672129 PMID:1757960 PMID:1895316 PMID:1939638 PMID:1998337 PMID:2002056 PMID:2049575 PMID:2145268 PMID:2235526 PMID:2243125 PMID:2349939 PMID:2365710 PMID:2492273 PMID:2583342 PMID:2710295 PMID:2771024 PMID:2808425 PMID:2834369 PMID:2981879 PMID:3076851 PMID:3162228 PMID:3204406 PMID:6477831 PMID:6507506 PMID:7230200 PMID:7581395 PMID:7695699 PMID:7749417 PMID:7912131 PMID:8098182 PMID:8218237 PMID:8320698 PMID:8477261 PMID:8514866 PMID:8664902 PMID:8680408 PMID:8881656 PMID:8990011 PMID:9036918 PMID:9147870 PMID:9399899 PMID:9536098 PMID:9546243 PMID:9841712 PMID:10051163 PMID:10706896 PMID:10923041 PMID:10928898 PMID:11577371 PMID:12131463 PMID:12694234 PMID:12786757 PMID:16751282 PMID:16863833 PMID:17053184 PMID:17122455 PMID:17224388 PMID:17251678 PMID:17576681 PMID:17728513 PMID:18043893 PMID:18272325 PMID:19011090 PMID:19248182 PMID:19344236 PMID:19424605 PMID:19695909 PMID:19993915 PMID:20052764 PMID:20518783 PMID:20648054 PMID:21086191 PMID:21520333 PMID:21533953 PMID:21637106 PMID:21984974 PMID:22001912 PMID:22019127 PMID:22038052 PMID:22492385 PMID:22610159 PMID:22647446 PMID:22713205 PMID:23148498 PMID:23234825 PMID:23293852 PMID:24033266 PMID:24036952 PMID:24055113 PMID:24399159 PMID:24922459 PMID:24951259 PMID:25149929 PMID:25205403 PMID:25326637 PMID:25355833 PMID:25503501 PMID:25637381 PMID:25644172 PMID:25741868 PMID:25758994 PMID:25776230 PMID:25834947 PMID:25846194 PMID:25944730 PMID:26017485 PMID:26188975 PMID:26332594 PMID:26333736 PMID:26497932 PMID:26854089 PMID:27011056 PMID:27153395 PMID:27168972 PMID:27306637 PMID:27611364 PMID:27888582 PMID:27964749 PMID:28087566 PMID:28166811 PMID:28258187 PMID:28349240 PMID:28492532 PMID:28655553 PMID:28742248 PMID:28748566 PMID:29216800 PMID:29510914 PMID:29543232 PMID:29590070 PMID:29778910 PMID:30087447 PMID:30115950 PMID:30122538 PMID:30374176 PMID:30379966 PMID:30474650 PMID:30675029 PMID:30793832 PMID:30919682 PMID:30999998 PMID:31126764 PMID:31531849 PMID:31719132 NCBI chr15:93,556,914...93,595,678
Ensembl chr15:93,556,912...93,615,815
JBrowse link
G COL5A2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 ClinVar PMID:20648054 PMID:28492532 NCBI chr15:93,611,856...93,981,131
Ensembl chr15:93,611,856...93,981,110
JBrowse link
G SLC40A1 solute carrier family 40 member 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 ClinVar PMID:20648054 PMID:28492532 NCBI chr15:94,140,635...94,161,793
Ensembl chr15:94,140,725...94,168,210
JBrowse link
G WDR75 WD repeat domain 75 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 ClinVar PMID:20648054 PMID:28492532 NCBI chr15:93,981,054...94,026,479
Ensembl chr15:93,981,215...94,026,707
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 chr15:93,556,914...93,595,678
Ensembl chr15:93,556,912...93,615,815
JBrowse link
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 chr15:93,556,914...93,595,678
Ensembl chr15:93,556,912...93,615,815
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13437
    syndrome 6736
      Ehlers-Danlos syndrome 108
        Ehlers-Danlos Syndrome Type 4 4
          autosomal recessive type IV Ehlers-Danlos syndrome 0
          vascular type Ehlers-Danlos syndrome + 1
Path 2
Term Annotations click to browse term
  disease 13437
    disease of anatomical entity 13099
      Hemic and Lymphatic Diseases 1925
        hematopoietic system disease 1563
          blood coagulation disease 582
            hemorrhagic disease 573
              vascular hemostatic disease 286
                Ehlers-Danlos syndrome 108
                  Ehlers-Danlos Syndrome Type 4 4
                    autosomal recessive type IV Ehlers-Danlos syndrome 0
                    vascular type Ehlers-Danlos syndrome + 1
paths to the root