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Human Disease

multiple synostoses syndrome 3

Term ID
DOID:0081319
Synonyms
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 )
Relationships
is a type of
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Genes Involved
Zebrafish Models