Search Ontology:
Human Disease
glycoproteinosis
- Term ID
- DOID:3343
- Synonyms
-
- Mucolipidosis type I
- sialidosis
- Definition
- A mucolipidosis that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase). (3)
- References
-
- GARD:10670
- MESH:D009081
- MIM:256550
- Ontology
- Human Disease ( DOID:3343 )
- is a type of
-
Other Pages
Genes Involved
Human Gene | Zebrafish Ortholog | OMIM Term | Disease | OMIM Phenotype ID |
---|---|---|---|---|
NEU1 | Sialidosis, type I | glycoproteinosis | 256550 | |
NEU1 | Sialidosis, type II | glycoproteinosis | 256550 |
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Zebrafish Models
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