A mucolipidosis that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase). [ url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/302/viewAbstract url:https://en.wikipedia.org/wiki/Glycoproteinosis http://purl.obolibrary.org/obo/ECO_0007638 http://purl.obolibrary.org/obo/ECO_0007636 url:http://en.wikipedia.org/wiki/Sialidosis ]
Synonyms: Mucolipidosis type I sialidosis
Term information
- SNOMEDCT_US_2023_03_01:70528007
- NCI:C61267
- UMLS_CUI:C0026697
- MESH:D009081
- GARD:10670
- MIM:256550
DO_FlyBase_slim, DO_rare_slim, NCIthesaurus