alpha-mannosidosis
Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit.
MONDO:0005328
eye disorder
is_a
MONDO:0019251
oligosaccharidosis
is_a
MONDO:0800088
lysosomal storage disease with skeletal involvement
is_a
Alpha mannosidase B deficiency
related
MANSA
related
alpha-mannosidosis
exact
lysosomal alpha-D-mannosidase deficiency
exact
mannosidosis, ALPHA B, lysosomal
related
mannosidosis, alpha B lysosomal
related
mannosidosis, alpha-, types I and II
exact