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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:Bent Bone Dysplasia Syndrome
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Accession:DOID:9001258 term browser browse the term
Synonyms:exact_synonym: BBDS
 primary_id: OMIM:614592;   RDO:9000196
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Bent Bone Dysplasia Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by OMIM:614592
DNA:missense mutations:cds:p.M391R, p.Y381D (human)
ClinVar Annotator: match by term: Bent bone dysplasia syndrome
OMIM
ClinVar
PMID:7558045 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... RGD:12801468 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    syndrome 8125
      Bent Bone Dysplasia Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      Skin and Connective Tissue Diseases 5811
        connective tissue disease 4420
          bone disease 3106
            bone development disease 1414
              Bent Bone Dysplasia Syndrome 1
paths to the root