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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:14991055 PMID:25741868 PMID:28492532 NCBI chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      endocrine system disease 6214
        Dwarfism 692
          Atelosteogenesis Type 3 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      musculoskeletal system disease 7137
        connective tissue disease 4899
          bone disease 3577
            bone development disease 1760
              osteochondrodysplasia 604
                atelosteogenesis 2
                  Atelosteogenesis Type 3 1
paths to the root