Neuronal Ceroid Lipofuscinosis 10
Disease ID: disease_node_15960
Connections displayed (default: 10).
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| Dbxref | GARD:1218, ICD10CM:E75.4, MIM:610127, ORDO:228337 |
|---|---|
| Subclassof | DOID_0050737, DOID_14503 |
| Data Source | DOID |
| Synonyms | CLN10, Cathepsin D deficiency, neuronal ceroid lipofuscinosis cathepsin D-deficient, neuronal ceroid lipofuscinosis due to cathepsin D deficiency |
| Doid Label | neuronal ceroid lipofuscinosis 10 |
| Doid Description | A neuronal ceroid lipofuscinosis that has_material_basis_in homozygous or compound heterozygous mutation in the CTSD gene on chromosome 11p15. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15960 |
| Doid Id | DOID_0110725 |
| Label | Neuronal Ceroid Lipofuscinosis 10 |
- Outgoing r'ship
SUBCLASS_OFto/from Neuronal Ceroid-Lipofuscinoses(ID:disease_node_5584) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)