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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: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;   Piepkorn dysplasia
 broad_synonym: FLNB-related spectrum disorder
 primary_id: MESH:C536573
 alt_id: OMIM:112310
 xref: GARD:933
For additional species annotation, visit the Alliance of Genome Resources.


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Boomerang dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flnb filamin B ISO ClinVar Annotator: match by OMIM:112310
ClinVar Annotator: match by term: Boomerang dysplasia
OMIM
ClinVar
PMID:12955767 PMID:14991055 PMID:17510210 PMID:25741868 NCBI chr15:18,750,152...18,883,019
Ensembl chr15:18,750,118...18,883,005
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      endocrine system disease 5000
        Dwarfism 486
          Boomerang dysplasia 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      musculoskeletal system disease 5740
        connective tissue disease 4137
          bone disease 3507
            bone development disease 1307
              Dwarfism 486
                Boomerang dysplasia 1
paths to the root