Spastic Paraplegia 52, Autosomal Recessive

Preferred Label : Spastic Paraplegia 52, Autosomal Recessive;

NCIt synonyms : SPG52;

NCIt definition : An autosomal recessive subtype of hereditary spastic paraplegia caused by mutation(s) in the AP4S1 gene, encoding AP-4 complex subunit sigma-1.;

Détails

Origin ID

C212890;

Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
disease_mapped_to_gene
- AP4S1 Gene [NCIt concept]

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