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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 ClinVar Annotator: match by OMIM:166250
DNA:missense mutation:exon:p.Y372C (1115G>A) (human)
ClinVar Annotator: match by term: Osteoglophonic dysplasia
OMIM
ClinVar
PMID:7422392 PMID:10629055 PMID:12627230 PMID:12952917 PMID:15365636 PMID:15605412 PMID:15625620 PMID:16470795 PMID:16764984 PMID:17154279 PMID:17360555 PMID:17963255 PMID:18160472 PMID:18985070 PMID:19707180 PMID:20696889 PMID:22378383 PMID:23329143 PMID:23348397 PMID:23657145 PMID:25064402 PMID:25383892 PMID:25425165 PMID:25741868 PMID:25759380 PMID:26467025 PMID:26931467 PMID:27884173 PMID:28492532, PMID:15625620 RGD:11567266 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      bone development disease 1312
        osteochondrodysplasia 446
          osteoglophonic dysplasia 1
Path 2
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          monogenic disease 5725
            autosomal genetic disease 4875
              autosomal dominant disease 3160
                osteoglophonic dysplasia 1
paths to the root