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Metadata
ID DOID:0070643
Name hereditary spastic paraplegia 91
Definition A hereditary spastic paraplegia that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34.
https://pubmed.ncbi.nlm.nih.gov/35150594/, https://pubmed.ncbi.nlm.nih.gov/36331550/
Xrefs

MIM:620538

SKOS

exactMatch MIM:620538

Subsets

DO_rare_slim

Synonyms

autosomal dominant spastic paraplegia 91 [EXACT]

autosomal dominant spastic paraplegia 91 with or without cerebellar ataxia [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a hereditary spastic paraplegia

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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