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Metadata
ID	DOID:0081318
Name	multiple synostoses syndrome 2
Definition	A multiple synostoses syndrome that is characterized by progressive joint fusions of the fingers, wrists, ankles, and cervical spine; characteristic facies, including a broad hemicylindrical nose; and progressive conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. https://pubmed.ncbi.nlm.nih.gov/16532400/
Xrefs	GARD:9916 MIM:610017
Subsets	DO_rare_slim
Parent Relationships	is_a multiple synostoses syndrome