| Metadata | |
|---|---|
| ID | DOID:3343 |
| Name | glycoproteinosis |
| Definition | A mucolipidosis that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase). http://en.wikipedia.org/wiki/Sialidosis, https://en.wikipedia.org/wiki/Glycoproteinosis, https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/302/viewAbstract |
| Xrefs |
SNOMEDCT_US_2023_03_01:70528007 |
| Subsets |
DO_FlyBase_slim DO_rare_slim NCIthesaurus |
| Synonyms |
Mucolipidosis type I [EXACT] sialidosis [EXACT] |
| Parent Relationships |
is_a mucolipidosis |