desmosterolosis
Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.
MONDO:0019702
neonatal osteosclerotic dysplasia
is_a
MONDO:0045017
cholesterol biosynthetic process disease
is_a
desmosterolosis
exact