Schmid metaphyseal chondrodysplasia
A 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.
MONDO:0000138
metaphyseal chondrodysplasia
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0005516
osteochondrodysplasia
is_a
MCDS
exact
Metaphyseal Chondrodysplasia, Schmid Type
exact
metaphyseal chondrodysplasia Schmid type
exact
metaphyseal chondrodysplasia, Schmid type
exact
spondylometaphyseal dysplasia, Japanese type
exact