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Metadata
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://pubmed.ncbi.nlm.nih.gov/31488895/, https://www.ncbi.nlm.nih.gov/pubmed/21487076
Xrefs

ICD10CM:G11.4

OMIM:610357

ORDO:101010

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

is_a hereditary spastic paraplegia

is_a autosomal genetic disease

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