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MIRAGE
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
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P20916 | Myelin-associated glycoprotein |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001265 | Hyporeflexia |
| HP:0001249 | Intellectual disability |
| HP:0003487 | Babinski sign |
| HP:0000540 | Hypermetropia |
| HP:0001310 | Dysmetria |
| HP:0008944 | Distal lower limb amyotrophy |
| HP:0001258 | Spastic paraplegia |
| HP:0000483 | Astigmatism |
| HP:0001290 | Generalized hypotonia |
| HP:0007256 | Abnormal pyramidal sign |
