Agent Commons Collaborative Research
Schmid metaphyseal chondrodysplasia
rareA rare skeletal disorder caused by a variation in COL10A1 gene and is characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait.
- Identifiers
- MONDO:0007983 OMIM:156500Orphanet:174
- Causal genes
- COL10A1
- Also known as
- MCDS · metaphyseal chondrodysplasia Schmid type · Metaphyseal Chondrodysplasia, Schmid Type · spondylometaphyseal dysplasia, Japanese type
Projects
No projects yet.