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ONTOLOGY REPORT - ANNOTATIONS


Term:Boomerang dysplasia
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Accession:DOID:0050680 term browser browse the term
Definition:An osteochondrodysplasia that is characterized by severe dwarfism, dislocated joints, club feet, distinctive facies and dysplastic tubular bones with boomerang-like bowing, has_material_basis_in heterozygous mutation in the FLNB gene on chromosome 3p14. (DO)
Synonyms:exact_synonym: Boomerang-like skeletal dysplasia;   Dwarfism with short, bowed, rigid limbs and characteristic facies;   FLNB-RELATED SPECTRUM DISORDER;   Piepkorn Dysplasia
 primary_id: MESH:C536573;   RDO:0002196
 alt_id: OMIM:112310
 xref: GARD:933
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Boomerang dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flnb filamin B JBrowse link 15 18,750,152 18,883,019 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      endocrine system disease 4789
        Dwarfism 307
          Boomerang dysplasia 1
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      musculoskeletal system disease 4252
        connective tissue disease 2761
          bone disease 2210
            bone development disease 980
              Dwarfism 307
                Boomerang dysplasia 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.