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RGD uses the Human Disease Ontology (DO, 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;   BENT BONE DYSPLASIA
 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 DNA:missense mutations:cds:p.M391R, p.Y381D (human)
ClinVar Annotator: match by term: Bent bone dysplasia syndrome
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
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: distinct bent bone dysplasia ClinVar PMID:28492532 PMID:33242826 NCBI chr 3:167,270,296...167,318,370
Ensembl chr 3:167,270,296...167,318,451
JBrowse link
G Sox9 SRY-box transcription factor 9 ISO ClinVar Annotator: match by term: Bent bone dysplasia ClinVar PMID:25741868 NCBI chr10:97,806,485...97,811,994
Ensembl chr10:97,806,485...97,811,994
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    syndrome 9456
      Bent Bone Dysplasia Syndrome 3
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      Skin and Connective Tissue Diseases 6546
        connective tissue disease 4900
          bone disease 3578
            bone development disease 1760
              Bent Bone Dysplasia Syndrome 3
paths to the root