cartilage-hair hypoplasia
Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.
MONDO:0005172
skeletal system disorder
is_a
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0015708
immuno-osseous dysplasia
is_a
MONDO:0019287
ectodermal dysplasia syndrome
is_a
CHH
related
McKusick Type Metaphyseal Chondrodysplasia
exact
autosomal recessive metaphyseal chondrodysplasia
exact
cartilage hair hypoplasia
exact
cartilage hair hypoplasia like syndrome
related
cartilage-hair hypoplasia
exact
metaphyseal chondrodysplasia McKusick type
related
metaphyseal chondrodysplasia, McKusick type
exact
SPNCRNA.82