osteoglophonic dysplasia
Information
- Disease name
- osteoglophonic dysplasia
- Disease ID
- DOID:0111532
- Description
- "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." [url:https\://ghr.nlm.nih.gov/condition/osteoglophonic-dysplasia, url:https\://www.ncbi.nlm.nih.gov/pubmed/15625620, url:https\://www.ncbi.nlm.nih.gov/pubmed/7422392]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:2256
- Cross Reference ID (Disease Ontology)
- GARD:4142
- Cross Reference ID (Disease Ontology)
- MESH:C536050
- Cross Reference ID (Disease Ontology)
- MIM:166250
- Cross Reference ID (Disease Ontology)
- ORDO:2645
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:254144002
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0432283
- Exact Synonym (Disease Ontology)
- Fairbank-Keats syndrome
- Exact Synonym (Disease Ontology)
- OGD
- Exact Synonym (Disease Ontology)
- osteoglophonic dwarfism