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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:Atelosteogenesis Type 3
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Accession:DOID:9004436 term browser browse the term
Synonyms:exact_synonym: AO3;   AOIII;   Atelosteogenesis Type III
 broad_synonym: FLNB-related spectrum disorder
 primary_id: MESH:C579928
 alt_id: MIM:108721


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Atelosteogenesis Type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flnb filamin B ISO ClinVar Annotator: match by term: Atelosteogenesis type 3 | ClinVar Annotator: match by term: Atelosteogenesis type III OMIM
ClinVar		 PMID:9536098 PMID:14991055 PMID:17576681 PMID:20301736 PMID:22190451 More... NCBI chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19072
    disease of anatomical entity 18365
      endocrine system disease 6883
        Dwarfism 865
          Atelosteogenesis Type 3 1
Path 2
Term Annotations click to browse term
  disease 19072
    disease of anatomical entity 18365
      musculoskeletal system disease 8468
        connective tissue disease 5942
          bone disease 4396
            bone development disease 2366
              osteochondrodysplasia 867
                atelosteogenesis 2
                  Atelosteogenesis Type 3 1
paths to the root