Search Ontology:
Human Disease
hereditary spastic paraplegia 81
- Term ID
- DOID:0112349
- Synonyms
-
- autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
- autosomal recessive complex SPG due to Kennedy pathway dysfunction
- spastic paraplegia 81 autosomal recessive
- Definition
- A hereditary spastic paraplegia characterized by onset in infancy, delayed motor development, progressive spasticity, and other neurologic impairments that has_material_basis_in homozygous or compound heterozygous mutation in the SELENOI gene on chromosome 2p23.3. (2)
- References
-
- MIM:618768
- ORDO:506353
- Ontology
- Human Disease ( DOID:0112349 )
- is a type of
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Genes Involved
| Human Gene | Zebrafish Ortholog | OMIM Term | Disease | OMIM Phenotype ID |
|---|---|---|---|---|
| SELENOI | Spastic paraplegia 81, autosomal recessive | hereditary spastic paraplegia 81 | 618768 |
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Zebrafish Models
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