Multiple Sulfatase Deficiency Disease
Disease ID: disease_node_11561
Connections displayed (default: 10).
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| Dbxref | 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 |
|---|---|
| Subclassof | DOID_1927, DOID_0050737 |
| Data Source | DOID, MESH |
| Synonyms | Sulfatidosis, Juvenile, Austin Type, multiple sulfatase deficiency disease |
| Mesh Id | D052517 |
| Mesh Label | Multiple Sulfatase Deficiency Disease |
| Mesh Subclassof | D052516 |
| Doid Label | mucosulfatidosis |
| Doid 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. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_11561 |
| Doid Id | DOID_0050441 |
| Label | Multiple Sulfatase Deficiency Disease |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Sphingolipidoses(ID:disease_node_7022) (Disease)