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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 1
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Accession:DOID:0080986 term browser browse the term
Definition:An Ehlers-Danlos syndrome that is characterized by an Ehlers-Danlos syndrome phenotype combined with severe periodontal inflammation and that has_material_basis_in heterozygous mutation in the C1R gene on chromosome 12p13. (DO)
Synonyms:exact_synonym: EDS VIII;   EDS8;   EDSPD1;   Ehlers-Danlos Syndrome Type 8;   Ehlers-Danlos Syndrome, Periodontitis Type;   Ehlers-Danlos Syndrome, Periodontosis Type;   Ehlers-Danlos Syndrome, Type VIII
 primary_id: MESH:C562626
 alt_id: DOID:9004784;   OMIM:130080
For additional species annotation, visit the Alliance of Genome Resources.


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Ehlers-Danlos syndrome periodontal type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1r complement C1r ISO ClinVar Annotator: match by OMIM:130080
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 8
ClinVar
OMIM
PMID:890102 PMID:2260589 PMID:12776252 PMID:22739343 PMID:25741868 More... NCBI chr 4:157,412,718...157,423,483
Ensembl chr 4:157,412,692...157,423,484
JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, PERIODONTOSIS TYPE ClinVar PMID:27745832 NCBI chr 4:157,430,249...157,442,438
Ensembl chr 4:157,430,117...157,442,303
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    syndrome 8125
      Ehlers-Danlos syndrome 116
        Ehlers-Danlos syndrome periodontal type 1 2
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      Hemic and Lymphatic Diseases 2326
        hematopoietic system disease 1908
          blood coagulation disease 648
            hemorrhagic disease 638
              vascular hemostatic disease 318
                Ehlers-Danlos syndrome 116
                  Ehlers-Danlos syndrome periodontal type 1 2
paths to the root