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Human Disease

multiple synostoses syndrome 1

Term ID
DOID:0081317
Synonyms
Definition
A multiple synostoses syndrome 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 NOG gene on chromosome 17q22. https://pubmed.ncbi.nlm.nih.gov/11846737/
References
Ontology
Human Disease   ( DOID:0081317 )
Relationships
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Genes Involved
Zebrafish Models