| Metadata | |
|---|---|
| ID | DOID:0111532 |
| Name | osteoglophonic dysplasia |
| 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. https://ghr.nlm.nih.gov/condition/osteoglophonic-dysplasia, https://www.ncbi.nlm.nih.gov/pubmed/15625620, https://www.ncbi.nlm.nih.gov/pubmed/7422392 |
| Xrefs |
SNOMEDCT_US_2023_03_01:254144002 |
| Subsets |
DO_rare_slim |
| Synonyms |
Fairbank-Keats syndrome [EXACT] OGD [EXACT] osteoglophonic dwarfism [EXACT] |
| Parent Relationships |