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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:Bruck syndrome
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Accession:DOID:0060231 term browser browse the term
Definition:A syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta. (DO)
Synonyms:exact_synonym: osteogenesis imperfecta with congenital joint contractures
 primary_id: RDO:9004938
 xref: ICD10CM:M21.8;   ORDO:2771
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Bruck syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkbp10 FKBP prolyl isomerase 10 ISS
ISO
OMIM:259450 | OMIM:609220
ClinVar Annotator: match by term: Bruck Syndrome
MouseDO
ClinVar
PMID:25741868 NCBI chr10:88,326,337...88,338,199
Ensembl chr10:88,326,080...88,338,207
JBrowse link
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 ISS OMIM:259450 | OMIM:609220 MouseDO NCBI chr 8:99,977,334...100,059,736
Ensembl chr 8:99,977,334...100,059,736
JBrowse link
Bruck Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkbp10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:259450
ClinVar Annotator: match by term: Kuskokwim disease
ClinVar Annotator: match by term: Bruck syndrome 1
ClinVar
OMIM
PMID:9129737 PMID:9481655 PMID:9927692 PMID:20362275 PMID:20696291 PMID:20839288 PMID:21567934 PMID:22949511 PMID:23712425 PMID:25741868 NCBI chr10:88,326,337...88,338,199
Ensembl chr10:88,326,080...88,338,207
JBrowse link
Bruck Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 ISO ClinVar Annotator: match by term: Bruck syndrome 2
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:609220
OMIM
ClinVar
PMID:9927692 PMID:12881513 PMID:15523624 PMID:22689593 PMID:25086671 PMID:25741868 PMID:28492532 PMID:29178448 NCBI chr 8:99,977,334...100,059,736
Ensembl chr 8:99,977,334...100,059,736
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    syndrome 7053
      Bruck syndrome 2
        Bruck Syndrome 1 1
        Bruck Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      Skin and Connective Tissue Diseases 4954
        connective tissue disease 3626
          bone disease 2987
            bone development disease 1312
              osteochondrodysplasia 446
                osteogenesis imperfecta 39
                  Bruck syndrome 2
                    Bruck Syndrome 1 1
                    Bruck Syndrome 2 1
paths to the root