galactosialidosis
A lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.
MONDO:0005328
eye disorder
is_a
MONDO:0019251
oligosaccharidosis
is_a
MONDO:0800088
lysosomal storage disease with skeletal involvement
is_a
GSL
related
Goldberg syndrome
exact
cathepsin A deficiency of
related
galactosialidosis
exact
lysosomal protective protein deficiency of
related
neuraminidase deficiency with beta-galactosidase deficiency
exact
SPAC19G12.10c SPBC16G5.09