Neuronal Ceroid Lipofuscinosis 7
Disease ID: disease_node_15964
Connections displayed (default: 10).
Loading graph...
| Dbxref | GARD:1220, ICD10CM:E75.4, MIM:610951, ORDO:228366 |
|---|---|
| Subclassof | DOID_0050737, DOID_14503 |
| Data Source | DOID |
| Synonyms | CLN7 |
| Disease Has Feature | DOID_1510 |
| Doid Label | neuronal ceroid lipofuscinosis 7 |
| Doid Description | A neuronal ceroid lipofuscinosis that is characterized by late-infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and has_material_basis_in homozygous or compound heterozygous mutation in the MFSD8 gene on chromosome 4q28. |
| Has Symptom | SYMP_0000321, SYMP_0000124 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15964 |
| Doid Id | DOID_0110722 |
| Label | Neuronal Ceroid Lipofuscinosis 7 |
- Outgoing r'ship
HAS_SYMPTOMto/from Loss Of Vision(ID:disease_node_21716) (Disease) - Outgoing r'ship
HAS_SYMPTOMto/from Seizure(ID:disease_node_21382) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Neuronal Ceroid-Lipofuscinoses(ID:disease_node_5584) (Disease)