Term Name: Stickler syndrome 2
Synonyms:
Definition: A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL11A1 gene on chromosome 1p21.
Ontology: Human Disease [DOID:0080675]   ( DOID:0080675 )

Relationships
is a type of: autosomal dominant disease Stickler syndrome