| General Information | |||
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| Term | glycoproteinosis | ID (Ontology) | DOID:3343 (Human Disease) |
| Definition | A mucolipidosis that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase). | ||
| Also Known As | "Mucolipidosis type I" ; "sialidosis" | ||
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| DO.org | |||
| Annotations | |||
| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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lipid storage disease |__mucolipidosis |__glycoproteinosis 4 rec. |
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Relationships
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| Is a | mucolipidosis | ||
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Synonyms & Secondary IDs
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External Crossreferences & Linkouts
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GARD:10670 MESH:D009081 MIM:256550 NCI:C61267 SNOMEDCT_US_2023_03_01:70528007 UMLS_CUI:C0026697 |
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