Metadata | |
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ID | DOID:0110781 |
Name | hereditary spastic paraplegia 30 |
Definition | A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF1A gene on chromosome 2q37. https://www.ncbi.nlm.nih.gov/pubmed/21487076, https://pubmed.ncbi.nlm.nih.gov/31488895/ |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
autosomal dominant spastic paraplegia 30 [NARROW] autosomal recessive spastic paraplegia 30 [NARROW] autosomal spastic paraplegia type 30 [EXACT] SPG30 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal inheritance |