mucosulfatidosis

Term ID

DOID:0050441

Synonyms

• multiple sulfatase deficiency disease
• Sulfatidosis, Juvenile, Austin Type

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

References

• 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

Ontology

Human Disease   ( DOID:0050441 )