Metadata | |
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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 | |
Parent Relationships |
is_a Stickler syndrome |