Smith-Lemli-Opitz syndrome
Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.
MONDO:0005328
eye disorder
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0015905
syndromic dyslipidemia
is_a
MONDO:0045017
cholesterol biosynthetic process disease
is_a
7-dehydrocholesterol reductase deficiency
exact
RSH syndrome
exact
Rutledge lethal multiple congenital anomaly syndrome
exact
SLO syndrome
exact
SLOS
exact
Smith Lemli Opitz syndrome
related
Smith-Lemli-Opitz syndrome
exact
polydactyly, sex reversal, renal hypoplasia, and unilobular lung
related
SPAC20G4.07c