DISEASES

Disease-gene associations mined from literature

Human genes for mucolipidosis

Mucolipidosis [DOID:3343]

A lysosomal storage disease that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase).

Synonyms:  mucolipidosis,  DOID:3343,  Mucolipidosis (disorder),  Mucolipidosis type I,  sialidosis ...

Linkouts:  OMIM #1 #2 #3 #4 #5