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Metadata
ID	DOID:0081317
Name	multiple synostoses syndrome 1
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/
Xrefs	GARD:3836 MIM:186500
Subsets	DO_rare_slim
Parent Relationships	is_a multiple synostoses syndrome
Subclass Logical Relationships	has material basis in some autosomal dominant inheritance