NCIthesaurus has material basis in mucosulfatidosis NCI:C84908 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. DOID:0050441 disease_ontology MESH:D052517 OMIM mapping confirmed by DO. [SN]. UMLS_CUI:C0268263 SNOMEDCT_US_2025_09_01:54898003 MIM:272200 ICD10CM:E75.26 Sulfatidosis, Juvenile, Austin Type multiple sulfatase deficiency disease autosomal recessive disease sphingolipidosis autosomal recessive inheritance