OBO ID: DOID:0050441
Term Name: mucosulfatidosis Search Ontology:
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
  • NCI:C84908
  • OMIM:272200
  • SNOMEDCT_US_2023_03_01:254076009
  • SNOMEDCT_US_2023_03_01:54898003
  • UMLS_CUI:C0268263
  • UMLS_CUI:C1720864
Ontology: Human Disease   ( DOID:0050441 )
Relationships
is a type of:
OTHER mucosulfatidosis PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SUMF1 Multiple sulfatase deficiency 272200
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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