Cytoscape Web
Click node...

Spondyloepiphyseal dysplasia, Kimberley type
1 OMIM reference -
1 associated gene
8 connected diseases
8 signs/symptoms
Disease Type of connection
Familial osteochondritis dissecans
Spondyloepimetaphyseal dysplasia, aggrecan type
Nodulosis-arthropathy-osteolysis syndrome
Torg-Winchester syndrome
Wagner disease
Synpolydactyly type 2
Hypomaturation amelogenesis imperfecta
Severe generalized recessive dystrophic epidermolysis bullosa
Synonym(s):
(no synonyms)
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: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
ACAN P16112155760
Very frequent
- Abnormal vertebral size / shape
- Autosomal dominant inheritance
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Epiphyseal anomaly
- Osteoarthritis
- Short limbs / micromelia / brachymelia
- Short rib cage / thorax
- Short stature / dwarfism / nanism