Spondyloepimetaphyseal dysplasia

MONDO:0100510

An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column, epiphysis, and metaphysis.

Also known as: SEMD, spondylo-epi-(meta)-physeal dysplasia

4 clinical trials for this condition and its sub-types, 0 tagged with Spondyloepimetaphyseal dysplasia itself.

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Where it sits in the disease tree

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↑ Osteochondrodysplasia (381)

Sub-types of Spondyloepimetaphyseal dysplasia

COL2A1-related spondyloepiphyseal dysplasia 0 trials · 3 incl. sub-types
6 sub-types
- Stickler syndrome type 1 3 trials Sub-types →
- Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis 0 trials
- Spondyloepiphyseal dysplasia congenita 0 trials
- Spondyloepiphyseal dysplasia with metatarsal shortening 0 trials
- Spondyloepiphyseal dysplasia, Stanescu type 0 trials
- Spondyloperipheral dysplasia 0 trials
Spondyloepimetaphyseal dysplasia, aggrecan type 1 trial
Spondyloepimetaphyseal dysplasia with joint laxity 0 trials
3 sub-types
Spondyloepimetaphyseal dysplasia, Bieganski type 0 trials
Spondyloepimetaphyseal dysplasia, Genevieve type 0 trials
Spondyloepimetaphyseal dysplasia, Guo-Campeau type 0 trials
Spondyloepimetaphyseal dysplasia, Handigodu type 0 trials
Spondyloepimetaphyseal dysplasia, Irapa type 0 trials
Spondyloepimetaphyseal dysplasia, Isidor type 0 trials
Spondyloepimetaphyseal dysplasia, Isidor-Toutain type 0 trials
Spondyloepimetaphyseal dysplasia, Krakow type 0 trials
Spondyloepimetaphyseal dysplasia, Li-Shao-Li type 0 trials
Spondyloepimetaphyseal dysplasia, Maroteaux type 0 trials
Spondyloepimetaphyseal dysplasia, Missouri type 0 trials
Spondyloepimetaphyseal dysplasia, PAPSS2 type 0 trials
Spondyloepimetaphyseal dysplasia, Shohat type 0 trials
Spondyloepimetaphyseal dysplasia, Strudwick type 0 trials
Spondyloepimetaphyseal dysplasia, di rocco type 0 trials
Spondyloepimetaphyseal dysplasia, matrilin-3 type 0 trials
Spondyloepimetaphyseal dysplasia, sponastrime type 0 trials
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome 0 trials
Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome 0 trials
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome 0 trials

Most studied deeper sub-types

Stickler syndrome, type I, nonsyndromic ocular (0)

Including sub-types (4) Tagged with Spondyloepimetaphyseal dysplasia (0)

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