Disease Term Disease ID Gene Symbol References
Stickler syndrome (disorder) C0265253 COL2A1
COL9A1 16718610, 16909383, 15802199, 21421862
COL9A2 15710493, 23530037, 27666725, 23159952, 20686772, 25852475, 15802199, 21671392, 17721977
COL9A3 18448257, 20686772, 31090205, 15802199, 24273071, 30450842
Stickler Syndrome, Type I, Nonsyndromic Ocular C1836080 COL2A1 11007540, 2543071, 18541977, 16752401, 17721977, 15671297, 8317498, 21922596
Stickler syndrome, type 3 C1861481 COL2A1 21438135, 16189708
COL11A2 15372529
Stickler syndrome, type 1 C2020284 COL2A1 7977371, 11007540, 20513134, 21922596, 1677770, 18541977
COL9A2 21671392
COL9A3 24273071
COL11A1
LOXL3 25663169
STICKLER SYNDROME, TYPE IV C3279941 COL9A1 16691584, 11565064
STICKLER SYNDROME, TYPE V C3280342 COL9A2 12244547, 21671392, 20358595
STICKLER SYNDROME, TYPE II (disorder) C1858084 COL11A1 20513134, 8872475, 10486316, 11668615, 27081569, 17236192, 10725403
Autosomal recessive Stickler syndrome 250984 COL11A1
COL9A1
COL9A2
COL9A3
LOXL3
Stickler syndrome type 1 90653 COL2A1
Stickler syndrome type 2 90654 COL11A1