Term Name: | mucosulfatidosis |
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Synonyms: | multiple sulfatase deficiency disease, Sulfatidosis, Juvenile, Austin Type |
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. |
Ontology: | Human Disease [DOID:0050441] ( DOID:0050441 ) |