Metadata | |
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ID | DOID:0110811 |
Name | hereditary spastic paraplegia 6 |
Definition | A hereditary spastic paraplegia that is usually characterized by rapidly progressive and severe spastic paraplegia and has_material_basis_in mutation in the NIPA1 gene on chromosome 15q11.2. https://www.ncbi.nlm.nih.gov/pubmed/14508710 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
autosomal dominant familial spastic paraplegia type 3 [EXACT] autosomal dominant spastic paraplegia 6 [EXACT] autosomal dominant spastic paraplegia type 6 [EXACT] FSP3 [EXACT] SPG6 [EXACT] |
Parent Relationships |