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Metadata
ID DOID:0050441
Name mucosulfatidosis
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
Xrefs

ICD10CM:E75.26

MESH:D052517

NCI:C84908

OMIM:272200

SNOMEDCT_US_2023_03_01:254076009

SNOMEDCT_US_2023_03_01:54898003

UMLS_CUI:C0268263

UMLS_CUI:C1720864

Subsets

NCIthesaurus

Synonyms

multiple sulfatase deficiency disease [EXACT]

Sulfatidosis, Juvenile, Austin Type [EXACT]

Parent Relationships

is_a sphingolipidosis

is_a autosomal recessive disease

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