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ONTOLOGY REPORT - ANNOTATIONS


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: DOID:9002365;   OMIM:166250
 xref: GARD:4142;   ORDO:2645
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osteoglophonic dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:7240710
RGD:8554872
RGD:11567266

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      bone development disease 1009
        osteochondrodysplasia 414
          osteoglophonic dysplasia 1
Path 2
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7613
        genetic disease 7096
          monogenic disease 4788
            autosomal genetic disease 3768
              autosomal dominant disease 2310
                osteoglophonic dysplasia 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.