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DO Term : mucosulfatidosis [DOID:0050441] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • ICD10CM:E75.26,
  • OMIM:272200,
  • SNOMEDCT_US_2023_03_01:54898003,
  • UMLS_CUI:C1720864,
  • NCI:C84908,
  • multiple sulfatase deficiency disease,
  • MESH:D052517,
  • UMLS_CUI:C0268263,
  • 272200,
  • Sulfatidosis, Juvenile, Austin Type,
  • SNOMEDCT_US_2023_03_01:254076009
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Ontology Term --> All ancestors

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Ontology Term --> Direct children

Ontology Term --> Direct parents