Niemann-Pick Diseases
Disease ID: disease_node_5606
Connections displayed (default: 10).
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| Dbxref | GARD:13334, ICD10CM:E75.24, MESH:D009542, NCI:C61269, SNOMEDCT_US_2023_03_01:58459009, UMLS_CUI:C0028064 |
|---|---|
| Subclassof | DOID_1927 |
| Data Source | DOID, MESH |
| Synonyms | Sphingomyelinase Deficiency Disease, lipoid histiocytosis, sphingomyelin lipidosis |
| Mesh Id | D009542 |
| Mesh Label | Niemann-Pick Diseases |
| Mesh Subclassof | D013106, D015616 |
| Doid Label | Niemann-Pick disease |
| Doid Description | A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells. OMIM mapping confirmed by DO. [SN]. |
| Disease Node Id | disease_node_5606 |
| Doid Id | DOID_14504 |
| Label | Niemann-Pick Diseases |
| Doid Alternate Ids | DOID_0050442, DOID_0050443, DOID_14770 |
- Outgoing r'ship
SUBCLASS_OFto/from Sphingolipidoses(ID:disease_node_7022) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Niemann-Pick Disease Type C1(ID:disease_node_20498) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Niemann-Pick Disease Type C2(ID:disease_node_20497) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Niemann-Pick Disease Type B(ID:disease_node_20499) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Niemann-Pick Disease Type A(ID:disease_node_20500) (Disease)