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Metadata
ID DOID:0080675
Name Stickler syndrome 2
Definition A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL11A1 gene on chromosome 1p21.
https://pubmed.ncbi.nlm.nih.gov/15286167/
Xrefs

OMIM:604841

Parent Relationships

is_a Stickler syndrome

is_a autosomal dominant disease

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