| 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 |
SNOMEDCT_US_2023_03_01:254076009 SNOMEDCT_US_2023_03_01:54898003 |
| Subsets |
NCIthesaurus |
| Synonyms |
multiple sulfatase deficiency disease [EXACT] Sulfatidosis, Juvenile, Austin Type [EXACT] |
| Parent Relationships |
is_a sphingolipidosis |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |