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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: OMIM:108721
For additional species annotation, visit the Alliance of Genome Resources.


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atelosteogenesis type III		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:14991055 PMID:17576681 PMID:20301736 PMID:25741868 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 20988
    disease of anatomical entity 18178
      endocrine system disease 6696
        Dwarfism 866
          Atelosteogenesis Type 3 1
Path 2
Term Annotations click to browse term
  disease 20988
    disease of anatomical entity 18178
      musculoskeletal system disease 8297
        connective tissue disease 5735
          bone disease 4262
            bone development disease 2282
              osteochondrodysplasia 876
                atelosteogenesis 2
                  Atelosteogenesis Type 3 1
paths to the root