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Repository for lectin-assisted multimodality data
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mucosulfatidosis
Summary
- Synonym
-
- Sulfatidosis, Juvenile, Austin Type
- multiple sulfatase deficiency disease
- 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.
- Super Class
- autosomal recessive disease sphingolipidosis
External Links
- Disease Ontology
- DOID:0050441
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8NBK3 | Formylglycine-generating enzyme |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8R0F3 | Formylglycine-generating enzyme |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000238 | Hydrocephalus |
| HP:0000252 | Microcephaly |
| HP:0010059 | Broad hallux phalanx |
| HP:0000280 | Coarse facial features |
| HP:0008064 | Ichthyosis |
| HP:0000319 | Smooth philtrum |
| HP:0011304 | Broad thumb |
| HP:0000505 | Visual impairment |
| HP:0005280 | Depressed nasal bridge |
| HP:0000518 | Cataract |
