Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
hereditary spastic paraplegia 73
Summary
- Synonym
-
- SPG73
- autosomal dominant spastic paraplegia 73
- autosomal dominant spastic paraplegia type 73
- Definition
- A hereditary spastic paraplegia that has_material_basis_in mutation in the CPT1C gene on chromosome 19q13.
- Super Class
- autosomal dominant disease hereditary spastic paraplegia
External Links
- Disease Ontology
- DOID:0110818
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003457 | EMG abnormality |
| HP:0001347 | Hyperreflexia |
| HP:0008944 | Distal lower limb amyotrophy |
| HP:0002166 | Impaired vibration sensation in the lower limbs |
| HP:0012898 | Abnormal lower-limb motor evoked potentials |
| HP:0002061 | Lower limb spasticity |
| HP:0007020 | Progressive spastic paraplegia |
| HP:0000726 | Dementia |
| HP:0002355 | Difficulty walking |
| HP:0003677 | Slowly progressive |
