classic homocystinuria
Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system.
MONDO:0001176
lens disorder
is_a
MONDO:0004737
homocystinuria
is_a
MONDO:0015327
developmental anomaly of metabolic origin
is_a
CBS deficiency
related
Homocystinuria due to Cystathionine Beta-Synthase Deficiency
exact
classic homocystinuria
exact
cystathionine beta-synthase deficiency
exact
homocystinuria due to CBS deficiency
related
homocystinuria due to cystathionine beta-synthase deficiency
exact
homocystinuria, B6-responsive and nonresponsive types
exact
thrombosis, hyperhomocysteinemic
exact
SPBC36.04