cerebrotendinous xanthomatosis
Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.
MONDO:0002615
xanthomatosis
is_a
MONDO:0005328
eye disorder
is_a
MONDO:0015905
syndromic dyslipidemia
is_a
MONDO:0019046
leukodystrophy
is_a
MONDO:0019218
inborn disorder of bile acid synthesis
is_a
MONDO:0019296
subcutaneous tissue disorder
is_a
MONDO:0020044
autosomal recessive metabolic cerebellar ataxia
is_a
MONDO:0020127
hereditary peripheral neuropathy
is_a
MONDO:0020143
cerebral lipidosis with dementia
is_a
MONDO:0045016
cholesterol catabolic process disease
is_a
CTX
exact
CTx
exact
cerebrotendinous xanthomatosis
exact
cholestanol storage disease
exact
sterol 27-hydroxylase deficiency
exact