type 2 collagenopathy
Any disease or disorder in which the cause of the disease is a mutation in the COL2A1 gene.
MONDO:0002254
syndromic disease
is_a
MONDO:0004603
collagenopathy
is_a
MONDO:0018230
skeletal dysplasia
is_a
MONDO:0023603
hereditary disorder of connective tissue
is_a
COL2A1
related
COL2A1 disease or disorder
exact
cartilage collagen
related
collagen II
related
collagenopathy type 2 alpha 1
exact
disease or disorder caused by mutation in COL2A1
exact
SPBC11G11.04