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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


show annotations for term's descendants           Sort by:
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 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:1556139 More... NCBI chr 1:45,350,698...45,388,866
Ensembl chr 1:45,350,698...45,388,866 		JBrowse link
G Col5a2 collagen, type V, alpha 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 ClinVar PMID:20648054 PMID:22696272 PMID:23587214 PMID:24922459 PMID:28492532 NCBI chr 1:45,413,491...45,542,442
Ensembl chr 1:45,413,481...45,542,442 		JBrowse link
G Slc40a1 solute carrier family 40 (iron-regulated transporter), member 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 ClinVar PMID:20648054 PMID:23587214 PMID:28492532 NCBI chr 1:45,947,230...45,965,690
Ensembl chr 1:45,947,228...45,965,683 		JBrowse link
G Wdr75 WD repeat domain 75 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 ClinVar PMID:20648054 PMID:23587214 PMID:28492532 NCBI chr 1:45,834,313...45,862,798
Ensembl chr 1:45,834,326...45,862,779 		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 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:7695699 PMID:8218237 PMID:8514866 More... NCBI chr 1:45,350,698...45,388,866
Ensembl chr 1:45,350,698...45,388,866 		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 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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16106
    syndrome 10387
      Ehlers-Danlos syndrome 254
        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 16106
    Pathological Conditions, Signs and Symptoms 12371
      Signs and Symptoms 10146
        Neurologic Manifestations 9803
          sensory system disease 6767
            skin disease 3833
              Genetic Skin Diseases 1848
                Ehlers-Danlos syndrome 254
                  Ehlers-Danlos Syndrome Type 4 4
                    autosomal recessive type IV Ehlers-Danlos syndrome 0
                    vascular type Ehlers-Danlos syndrome + 1
paths to the root