Metadata | |
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ID | DOID:0110804 |
Name | hereditary spastic paraplegia 52 |
Definition | A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4S1 gene on chromosome 14q12. https://www.ncbi.nlm.nih.gov/pubmed/21620353 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
autosomal recessive spastic paraplegia 52 [EXACT] CPSQ6 [EXACT] spastic quadriplegic cerebral palsy 6 [EXACT] SPG52 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |