| 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 | |
| Parent Relationships |
is_a autosomal dominant disease is_a Stickler syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |