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Disease Ontology Browser
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.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
03/25/2025
MGI 6.24 		The Jackson Laboratory