Search Ontology:
Human Disease
multiple synostoses syndrome 3
- Term ID
- DOID:0081319
- Synonyms
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- Definition
- A multiple synostoses syndrome that is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion and that has_material_basis_in heterozygous mutation in the FGF9 gene on chromosome 13q12. https://pubmed.ncbi.nlm.nih.gov/28730625/
- References
- Ontology
- Human Disease ( DOID:0081319 )
- is a type of
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Genes Involved
Zebrafish Models