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Summary Literature (0)
DOID:0050441 - mucosulfatidosis

Disease 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.

Synonyms: multiple sulfatase deficiency disease, Sulfatidosis, Juvenile, Austin Type

Xenbase Genes : sumf1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010088 - mucosulfatidosis

MIM:
MIM:272200 - MULTIPLE SULFATASE DEFICIENCY; MSD

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), sphingolipidosis (is_a)