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 75
Summary
- Synonym
-
- SPG75
- autosomal recessive spastic paraplegia 75
- autosomal recessive spastic paraplegia type 75
- Definition
- A hereditary spastic paraplegia that has_material_basis_in mutation in the MAG gene on chromosome 19q13.
- Super Class
- autosomal recessive disease hereditary spastic paraplegia
External Links
- Disease Ontology
- DOID:0110820
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002464 | Spastic dysarthria |
| HP:0009830 | Peripheral neuropathy |
| HP:0001347 | Hyperreflexia |
| HP:0000648 | Optic atrophy |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002313 | Spastic paraparesis |
| HP:0006886 | Impaired distal vibration sensation |
| HP:0001260 | Dysarthria |
| HP:0001319 | Neonatal hypotonia |
| HP:0002600 | Hyporeflexia of lower limbs |
