Hereditary Spastic Paraplegia 5A
Disease ID: disease_node_16661
Connections displayed (default: 10).
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| Dbxref | GARD:4926, ICD10CM:G11.4, MIM:270800, ORDO:100986 |
|---|---|
| Subclassof | DOID_2476, DOID_0050737 |
| Data Source | DOID |
| Synonyms | SPG5A, autosomal recessive spastic paraplegia 5A, autosomal recessive spastic paraplegia type 5A |
| Doid Label | hereditary spastic paraplegia 5A |
| Doid Description | A hereditary spastic paraplegia that is characterized by progressive muscle weakness and paraplegia and has_material_basis_in mutation in the CYP7B1 gene on chromosome 8q12. |
| Has Symptom | SYMP_0000363, SYMP_0000094 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16661 |
| Doid Id | DOID_0110810 |
| Label | Hereditary Spastic Paraplegia 5A |
- Outgoing r'ship
HAS_SYMPTOMto/from Muscle Weakness(ID:disease_node_9835;disease_node_21022) (Disease) - Outgoing r'ship
HAS_SYMPTOMto/from Progressive Weakness(ID:disease_node_21078) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Spastic Paraplegia, Hereditary(ID:disease_node_8225) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)