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Spondyloepimetaphyseal dysplasia, Missouri type
1 OMIM reference -
1 associated gene
24 connected diseases
12 signs/symptoms
Disease Type of connection
Metaphyseal anadysplasia
Achondrogenesis type 2
Autosomal dominant rhegmatogenous retinal detachment
Congenital factor XII deficiency
Czech dysplasia, metatarsal type
Dysspondyloenchondromatosis
Familial avascular necrosis of femoral head
Hereditary angioedema type 3
Hypochondrogenesis
Kniest dysplasia
Legg-Calvé-Perthes disease
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Multiple epiphyseal dysplasia, Beighton type
Nodulosis-arthropathy-osteolysis syndrome
Otospondylomegaepiphyseal dysplasia
Platyspondylic dysplasia, Torrance type
Sorsby's fundus dystrophy
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Spondyloepiphyseal dysplasia congenita
Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Schmidt type
Spondyloperipheral dysplasia - short ulna
Stickler syndrome type 1
Torg-Winchester syndrome
Synonym(s):
- SEMD type 2
- SEMD, Missouri type
- Spondyloepimetaphyseal dysplasia type 2
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
MMP13 P45452600108
Very frequent
- Abnormal vertebral size / shape
- Autosomal dominant inheritance
- Bowed diaphysis / diaphyses / long bones
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Epiphyseal anomaly
- Metaphyseal anomaly

Frequent
- Genu varum
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Osteoarthritis
- Rhizomelic micromelia
- Short stature / dwarfism / nanism

Occasional
- Restricted joint mobility / joint stiffness / ankylosis