DISEASES

Disease-gene associations mined from literature

Human genes for metachromatic leukodystrophy

Metachromatic leukodystrophy [DOID:10581]

A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.

Synonyms:  metachromatic leukodystrophy,  DOID:10581,  MLD,  Scholz cerebral sclerosis,  arylsulfatase A deficiency ...

Linkouts:  OMIM #1 #2