Type 2 collagenopathy

MONDO:0022800

Any disease or disorder in which the cause of the disease is a mutation in the COL2A1 gene.

Also known as: COL2A1 disease or disorder, collagenopathy type 2 alpha 1, disease or disorder caused by mutation in COL2A1, COL2A1, cartilage collagen, collagen II

40 clinical trials for this condition and its sub-types, 0 tagged with Type 2 collagenopathy itself.

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Where it sits in the disease tree

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Part of

↑ Syndromic disease (7133) ↑ Hereditary disorder of connective tissue (1311) ↑ Skeletal dysplasia (660) ↑ Collagenopathy (42)

Sub-types of Type 2 collagenopathy

Dysplasia of the proximal femoral epiphyses 0 trials · 36 incl. sub-types
3 sub-types
- Avascular necrosis of femoral head, primary, 1 34 trials
- Legg-Calve-Perthes disease 9 trials
- Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis 0 trials
Stickler syndrome type 1 3 trials
1 sub-type
- Stickler syndrome, type I, nonsyndromic ocular 0 trials
Kniest dysplasia 0 trials
Achondrogenesis type II 0 trials
Hypochondrogenesis 0 trials
Multiple epiphyseal dysplasia, Beighton type 0 trials
Platyspondylic dysplasia, Torrance type 0 trials
Spondyloepimetaphyseal dysplasia, Strudwick type 0 trials
Spondyloepiphyseal dysplasia congenita 0 trials
Spondyloepiphyseal dysplasia with metatarsal shortening 0 trials
Spondyloepiphyseal dysplasia, Stanescu type 0 trials
Spondylometaphyseal dysplasia, 'corner fracture' type 0 trials
Spondylometaphyseal dysplasia, Schmidt type 0 trials
Spondyloperipheral dysplasia 0 trials

Including sub-types (40) Tagged with Type 2 collagenopathy (0)

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