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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:brittle cornea syndrome 2
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Accession:DOID:0080729 term browser browse the term
Definition:An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the PRDM5 gene on chromosome 4q27. (DO)
Synonyms:exact_synonym: BCS2
 primary_id: OMIM:614170
For additional species annotation, visit the Alliance of Genome Resources.



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brittle cornea syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by OMIM:614170
ClinVar Annotator: match by This custom term has been created by RGD curators.
ClinVar Annotator: match by term: Brittle cornea syndrome 2
OMIM
ClinVar
PMID:8458232 PMID:21664999 PMID:22122778 PMID:25741868 PMID:26395458 More... NCBI chr 4:95,075,736...95,237,921
Ensembl chr 4:95,075,768...95,238,301
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17427
    sensory system disease 5708
      eye disease 2797
        scleral disease 2
          brittle cornea syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 17427
    disease of anatomical entity 16758
      Hemic and Lymphatic Diseases 2392
        hematopoietic system disease 1968
          blood coagulation disease 688
            hemorrhagic disease 657
              vascular hemostatic disease 321
                Ehlers-Danlos syndrome 116
                  Brittle Cornea Syndrome 2
                    brittle cornea syndrome 2 1
paths to the root