Metadata | |
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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 | |
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 | |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |