Mucolipidoses
Disease ID: disease_node_5250
Connections displayed (default: 10).
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| Dbxref | GARD:10670, MESH:D009081, MIM:256550, NCI:C61267, SNOMEDCT_US_2023_03_01:70528007, UMLS_CUI:C0026697 |
|---|---|
| Subclassof | DOID_0080488 |
| Data Source | DOID, MESH |
| Synonyms | Mucolipidosis type I, sialidosis |
| Mesh Id | D009081 |
| Mesh Label | Mucolipidoses |
| Mesh Subclassof | D020140, D002239, D001851 |
| Doid Label | glycoproteinosis |
| Doid Description | A mucolipidosis that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase). OMIM mapping submitted by NeuroDevNet. [LS]. |
| Disease Node Id | disease_node_5250 |
| Doid Id | DOID_3343 |
| Label | Mucolipidoses |
- Outgoing r'ship
SUBCLASS_OFto/from Mucolipidosis(ID:disease_node_20503) (Disease)