Mucolipidosis

rare

A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations.

Identifiers: MONDO:0019248 Orphanet:79212
Part of: Developmental anomaly of metabolic origin Glycoproteinosis

Subtypes

All diseases Rare only

Disease Rare Not rare Subtypes

Familial mucolipidosis MONDO:0031422 8
GNPTAB-mucolipidosis MONDO:0100122 GNPTAB 2

Projects

Including projects on subtypes.

No projects yet.