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Spondyloepimetaphyseal dysplasia, matrilin-3 type
1 OMIM reference -
1 associated gene
3 connected diseases
No signs/symptoms info
Disease Type of connection
Multiple epiphyseal dysplasia type 5
Multiple epiphyseal dysplasia type 1
Pseudoachondroplasia
Synonym(s):
- SEMD, MATN3-related
- SEMD, matrilin-3 type
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 recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
MATN3 O15232602109
No signs/symptoms info available.