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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 1
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Accession:DOID:9001258 term browser browse the term
Synonyms:exact_synonym: BBDS1;   FGFR2-related bent bone dysplasia;   perinatal lethal bent bone dysplasia
 narrow_synonym: DISTINCT BENT BONE DYSPLASIA
 primary_id: OMIM:614592
 xref: GARD:10965;   MONDO:0013815;   ORDO:313855


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Bent Bone Dysplasia Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR2 fibroblast growth factor receptor 2 IAGP
EXP		 DNA:missense mutations:cds:p.M391R, p.Y381D (human)
ClinVar Annotator: match by term: BENT BONE DYSPLASIA SYNDROME 1
ClinVar Annotator: match by term: Bent bone dysplasia syndrome 1
ClinVar Annotator: match by term: FGFR2-related bent bone dysplasia
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD
RGD		 PMID:1641873 PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 More... RGD:12801468 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G LAMA5 laminin subunit alpha 5 IAGP ClinVar Annotator: match by term: distinct bent bone dysplasia ClinVar PMID:28492532 PMID:33242826 NCBI chr20:62,309,065...62,367,312
Ensembl chr20:62,307,955...62,367,312 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    syndrome 18075
      Bent Bone Dysplasia Syndrome 4
        Bent Bone Dysplasia Syndrome 1 2
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      Skin and Connective Tissue Diseases 9687
        connective tissue disease 7446
          bone disease 5601
            bone development disease 3275
              Bent Bone Dysplasia Syndrome 4
                Bent Bone Dysplasia Syndrome 1 2
paths to the root