WormBase Tree Display for DO_term: DOID:0050441
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| DOID:0050441 | Name | mucosulfatidosis | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Comment | OMIM mapping confirmed by DO. | ||||
| Synonym | Exact | Sulfatidosis, Juvenile, Austin Type | |||
| multiple sulfatase deficiency disease | |||||
| Parent | Is_a | DOID:1927 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 272200 |
