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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 classic type 2
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Accession:DOID:0080726 term browser browse the term
Definition:An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the collagen alpha-2(V) gene on chromosome 2q31 and that is characterized by the absence of widened atrophic scars. (DO)
Synonyms:exact_synonym: EDS II;   EDS2;   EDSCL2;   Ehlers-Danlos Syndrome Type 2;   Ehlers-Danlos Syndrome, Type 2 Atypical;   Ehlers-Danlos syndrome type II;   Ehlers-Danlos syndrome, MITIS type;   Ehlers-Danlos syndrome, mild classic type
 primary_id: MESH:C536195
 alt_id: OMIM:130010
 xref: NCI:C125697
For additional species annotation, visit the Alliance of Genome Resources.


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Ehlers-Danlos syndrome classic type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col5a1 collagen type V alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2
CTD
ClinVar
PMID:8752669 PMID:9042913 PMID:25741868 PMID:28492532 NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2
ClinVar Annotator: match by term: Ehlers-Danlos syndrome classic type 2
ClinVar
OMIM
PMID:2855059 PMID:11940702 PMID:25326637 PMID:25741868 PMID:27854218 PMID:28132693 PMID:28166811 PMID:28492532 PMID:28550590 NCBI chr 9:52,091,088...52,238,735
Ensembl chr 9:52,092,511...52,238,564
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    syndrome 7653
      Ehlers-Danlos syndrome 116
        Ehlers-Danlos syndrome classic type 2 2
Path 2
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      Hemic and Lymphatic Diseases 2175
        hematopoietic system disease 1760
          blood coagulation disease 641
            hemorrhagic disease 631
              vascular hemostatic disease 311
                Ehlers-Danlos syndrome 116
                  Ehlers-Danlos syndrome classic type 2 2
paths to the root