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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, Periodontal Type 2
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Accession:DOID:9002437 term browser browse the term
Synonyms:exact_synonym: EDSPD2
 primary_id: OMIM:617174
For additional species annotation, visit the Alliance of Genome Resources.


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Ehlers-Danlos Syndrome, Periodontal Type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1r complement C1r ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type, 2 ClinVar PMID:890102 PMID:2260589 PMID:12776252 PMID:22739343 PMID:27663155 PMID:27745832 NCBI chr 4:157,126,060...157,136,825
Ensembl chr 4:157,125,998...157,136,829
JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type, 2
ClinVar
OMIM
PMID:25741868 PMID:27745832 NCBI chr 4:157,143,592...157,155,592
Ensembl chr 4:157,143,592...157,155,609
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, Periodontal 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, Periodontal Type 2 2
paths to the root