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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:osteoglophonic dysplasia
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Accession:DOID:0111532 term browser browse the term
Definition:An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has_material_basis_in heterozygous missense mutation in the FGFR1 gene on chromosome 8p11.23. (DO)
Synonyms:exact_synonym: Fairbank-Keats syndrome;   OGD;   osteoglophonic dwarfism
 primary_id: MESH:C536050
 alt_id: OMIM:166250
 xref: GARD:4142;   ORDO:2645


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osteoglophonic dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 Fibroblast growth factor receptor 1 ISO DNA:missense mutation:exon:p.Y372C (1115G>A) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fairbank-Keats syndrome | ClinVar Annotator: match by term: Osteoglophonic dysplasia		 OMIM
CTD
ClinVar
RGD		 PMID:9536098 PMID:10629055 PMID:11173846 PMID:12627230 PMID:12952917 More... RGD:11567266 NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    Developmental Disease 14397
      bone development disease 2307
        osteochondrodysplasia 861
          osteoglophonic dysplasia 1
Path 2
Term Annotations click to browse term
  disease 18976
    Developmental Disease 14397
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13406
        genetic disease 13024
          monogenic disease 10419
            autosomal genetic disease 9577
              autosomal dominant disease 6310
                osteoglophonic dysplasia 1
paths to the root