Hereditary Spastic Paraplegia 9A
Disease ID: disease_node_16647
Connections displayed (default: 10).
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| Dbxref | ICD10CM:G11.4, MIM:601162, ORDO:100990, ORDO:447753 |
|---|---|
| Subclassof | DOID_0050736, DOID_2476 |
| Data Source | DOID |
| Synonyms | AD-SPG9A, Cataracts motor neuropathy-short stature-skeletal anomalies syndrome, SPG9A, autosomal dominant complex spastic paraplegia type 9A, autosomal dominant spastic paraplegia 9A, cataracts with motor neuronopathy, short stature and skeletal abnormalities, spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux, spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome |
| Doid Label | hereditary spastic paraplegia 9A |
| Doid Description | A hereditary spastic paraplegia that has_material_basis_in autosomal domit heterozygous mutation in the ALDH18A1 gene on chromosome 10q24. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_16647 |
| Doid Id | DOID_0110824 |
| Label | Hereditary Spastic Paraplegia 9A |
- Outgoing r'ship
SUBCLASS_OFto/from Spastic Paraplegia, Hereditary(ID:disease_node_8225) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)