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Metadata
ID	DOID:0080676
Name	Stickler syndrome 1
Definition	A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13. https://pubmed.ncbi.nlm.nih.gov/21671392/
Xrefs	MIM:108300 ORDO:90653
Subsets	DO_rare_slim
Parent Relationships	is_a Stickler syndrome is_a autosomal dominant disease