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
- NCI:C61267
- SNOMEDCT_US_2023_03_01:70528007
- UMLS_CUI:C0026697
- Ontology
- Human Disease ( DOID:3343 )
- is a type of
-
Other Pages
Genes Involved
Zebrafish Models