beta-mannosidosis
Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.
MONDO:0019251
oligosaccharidosis
is_a
MONDO:0020127
hereditary peripheral neuropathy
is_a
MONDO:0800088
lysosomal storage disease with skeletal involvement
is_a
Beta-mannosidase deficiency
exact
MANSB
related
beta-mannosidase deficiency
exact
beta-mannosidosis
exact
lysosomal beta-mannosidase deficiency
exact
mannosidosis, BETA A, lysosomal
related
mannosidosis, beta
exact