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Metadata
ID DOID:0070457
Name hereditary spastic paraplegia 88
Definition A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that slowly progresses with variable severity that has_material_basis_in heterozygous mutation in the KPNA3 gene on chromosome 13q14.2.
https://pubmed.ncbi.nlm.nih.gov/34564892/, https://pubmed.ncbi.nlm.nih.gov/34825409/, https://pubmed.ncbi.nlm.nih.gov/34981581/
Xrefs

MIM:620106
SKOS

exactMatch MIM:620106
Synonyms

autosomal dominant spastic paraplegia 88 [EXACT]

SPG88 [EXACT]
Parent Relationships

is_a autosomal dominant disease

is_a hereditary spastic paraplegia
Subclass Logical Relationships

existence starts during some (Infantile onset or Childhood onset)

has material basis in some autosomal dominant inheritance

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