mucosulfatidosis (DOID:0050441)
Alliance: disease page
Synonyms: multiple sulfatase deficiency disease; Sulfatidosis, Juvenile, Austin Type
Alt IDs: OMIM:272200, ICD10CM:E75.26, MESH:D052517, NCI:C84908, UMLS_CUI:C0268263, UMLS_CUI:C1720864
Definition: A sphingolipidosis that is characterized by leukodystrophy, ichthyosis, skeletal abnormalities and shortened life expectancy and has_material_basis_in mutation in the SUMF1 gene that results in deficiency in multiple sulfatase enzymes.