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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 FGFR1 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
For additional species annotation, visit the Alliance of Genome Resources.



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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)
ClinVar Annotator: match by term: Osteoglophonic dysplasia
OMIM
ClinVar
RGD
PMID:9536098 PMID:10629055 PMID:12627230 PMID:12952917 PMID:15365636 More... RGD:11567266 NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      bone development disease 1760
        osteochondrodysplasia 605
          osteoglophonic dysplasia 1
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        genetic disease 10994
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal dominant disease 5048
                osteoglophonic dysplasia 1
paths to the root