Gaucher Disease
Disease ID: disease_node_3415
Connections displayed (default: 10).
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| Dbxref | GARD:8233, ICD10CM:E75.22, MESH:D005776, NCI:C61268, ORDO:355, SNOMEDCT_US_2023_03_01:190794006, UMLS_CUI:C0017205 |
|---|---|
| Subclassof | DOID_1927 |
| Data Source | DOID, MESH |
| Synonyms | Gaucher disease, acid beta-glucosidase deficiency, glocucerebrosidase deficiency, glucosylceramide beta-glucosidase deficiency, kerasin thesaurismosis |
| Mesh Id | D005776 |
| Mesh Label | Gaucher Disease |
| Mesh Subclassof | D013106 |
| Doid Label | Gaucher's disease |
| Doid Description | A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver. Xref MGI. OMIM mapping confirmed by DO. [SN]. |
| Disease Node Id | disease_node_3415 |
| Doid Id | DOID_1926 |
| Label | Gaucher Disease |
- Incoming r'ship
SUBCLASS_OFto/from Gaucher'S Disease Type I(ID:disease_node_20496) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Gaucher'S Disease Type Iii(ID:disease_node_20493) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Sphingolipidoses(ID:disease_node_7022) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Gaucher'S Disease Perinatal Lethal(ID:disease_node_20492) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Gaucher'S Disease Type Ii(ID:disease_node_20495) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Atypical Gaucher'S Disease Due To Saposin C Deficiency(ID:disease_node_20491) (Disease)