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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.


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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:7668257, PMID:7719344, PMID:7773284, PMID:7874170, PMID:7987400, PMID:8651276, PMID:8957519, PMID:9462761, PMID:9677057, PMID:9700203, PMID:9719378, PMID:10851026, PMID:11121055, PMID:11390973, PMID:12124745, PMID:14499350, PMID:15389579, PMID:15975938, PMID:16158432, PMID:16440883, PMID:16838304, PMID:16969861, PMID:17251833, PMID:17525745, PMID:18552176, PMID:20301628, PMID:20489451, PMID:21367659, PMID:22238366, PMID:22387015, PMID:22664175, PMID:23002168, PMID:23495007, PMID:23546041, PMID:23786770, PMID:24127277, PMID:24489893, PMID:24656465, PMID:25157968, PMID:25271085, PMID:25741868, PMID:25867380, PMID:26380986, PMID:26619011, PMID:28492532, PMID:30311386, PMID:31145570, PMID:22387015 RGD:12801468 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Bent Bone Dysplasia Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Skin and Connective Tissue Diseases 5474
        connective tissue disease 4099
          bone disease 3528
            bone development disease 1335
              Bent Bone Dysplasia Syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.