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	ID	Subtypes	Genes
Familial mucolipidosis	MONDO:0031422	8
GNPTAB-mucolipidosis	MONDO:0100122	2	GNPTAB

Rare disease

Projects

Including projects on subtypes.

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