|OBO ID: DOID:0050441|
|Term Name:||mucosulfatidosis||Search Ontology:|
|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. https://ghr.nlm.nih.gov/condition/multiple-sulfatase-deficiency|
|Ontology:||Human Disease (DOID:0050441)|
|is a type of:||
OTHER mucosulfatidosis PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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