Stickler syndrome, type 5
Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A2 gene.
MONDO:0019354
Stickler syndrome
is_a
COL9A2 autosomal recessive Stickler syndrome
exact
STICKLER syndrome, type V
related
STL5
related
autosomal recessive Stickler syndrome caused by mutation in COL9A2
exact