|
COL2A1
(HGNC:2200)
|
otospondylomegaepiphyseal dysplasia, autosomal recessive
(MONDO_0044206)
|
Limited
|
|
|
COL1A1
(HGNC:2197)
|
Ehlers-Danlos syndrome, classic type
(MONDO_0007522)
|
Moderate
|
|
|
COL18A1
(HGNC:2195)
|
Knobloch syndrome 1
(MONDO_0800167)
|
Strong
|
|
|
KCTD7
(HGNC:21957)
|
progressive myoclonus epilepsy
(MONDO_0020074)
|
Strong
|
|
|
COL1A1
(HGNC:2197)
|
Caffey disease
(MONDO_0007244)
|
Strong
|
|
|
COL1A1
(HGNC:2197)
|
osteogenesis imperfecta type 4
(MONDO_0008148)
|
Strong
|
|
|
KCTD7
(HGNC:21957)
|
progressive myoclonic epilepsy type 3
(MONDO_0012721)
|
Strong
|
|
|
COL1A1
(HGNC:2197)
|
osteogenesis imperfecta type 2
(MONDO_0008147)
|
Strong
|
|
|
COL2A1
(HGNC:2200)
|
spondyloperipheral dysplasia
(MONDO_0010078)
|
Strong
|
|
|
COL2A1
(HGNC:2200)
|
mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
(MONDO_0011496)
|
Moderate
|
|
|
COL2A1
(HGNC:2200)
|
spondyloepiphyseal dysplasia with metatarsal shortening
(MONDO_0012206)
|
Strong
|
|
|
COL2A1
(HGNC:2200)
|
achondrogenesis type II
(MONDO_0008702)
|
Definitive
|
|
|
COL2A1
(HGNC:2200)
|
spondylometaphyseal dysplasia, Schmidt type
(MONDO_0008478)
|
Limited
|
|
|
COL2A1
(HGNC:2200)
|
spondyloepiphyseal dysplasia congenita
(MONDO_0008471)
|
Definitive
|
|
|
COL2A1
(HGNC:2200)
|
Kniest dysplasia
(MONDO_0007987)
|
Definitive
|
|
|
COL2A1
(HGNC:2200)
|
platyspondylic dysplasia, Torrance type
(MONDO_0007895)
|
Moderate
|
|
|
COL2A1
(HGNC:2200)
|
Legg-Calve-Perthes disease
(MONDO_0007885)
|
Limited
|
|
|
COL2A1
(HGNC:2200)
|
Stickler syndrome type 1
(MONDO_0007160)
|
Definitive
|
|
|
ADAMTS3
(HGNC:219)
|
hennekam lymphangiectasia-lymphedema syndrome 3
(MONDO_0032564)
|
Limited
|
|
|
COL1A1
(HGNC:2197)
|
osteogenesis imperfecta type 1
(MONDO_0008146)
|
Definitive
|
|