FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term mucosulfatidosis ID (Ontology) DOID:0050441 (Human Disease)
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.
Also Known As "multiple sulfatase deficiency disease" ; "Sulfatidosis, Juvenile, Austin Type"
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Data Class Field Records
Human Disease Models (FBhh)  DOID       1
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 Genes Human Disease Models
 mucosulfatidosis       1      1
 for disease ribbon | mucosulfatidosis       1       --
 model of | mucosulfatidosis       1       --
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
lipid storage disease            |
 |__sphingolipidosis_____________|
                                 mucosulfatidosis  2 rec.
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Is a autosomal recessive disease
sphingolipidosis
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Synonyms
  • "multiple sulfatase deficiency disease" EXACT
    "Sulfatidosis, Juvenile, Austin Type" EXACT
Secondary IDs
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ICD10CM:E75.26
MESH:D052517
MIM:272200
NCI:C84908
SNOMEDCT_US_2023_03_01:254076009
SNOMEDCT_US_2023_03_01:54898003
UMLS_CUI:C0268263
UMLS_CUI:C1720864