OBO ID: DOID:0112348 |
Term Name: | hereditary spastic paraplegia 78 | Search Ontology: | |
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Definition: | A hereditary spastic paraplegia characterized predominantly by spasticity and muscle weakness of the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the ATP13A2 gene on chromosome 1p36.13. https://pubmed.ncbi.nlm.nih.gov/28137957/ | ||
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Ontology: | Human Disease ( DOID:0112348 ) |
OTHER hereditary spastic paraplegia 78 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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