hereditary spastic paraplegia 5A

Term ID

DOID:0110810

Synonyms

• autosomal recessive spastic paraplegia 5A
• autosomal recessive spastic paraplegia type 5A
• SPG5A

Definition

A hereditary spastic paraplegia that is characterized by progressive muscle weakness and paraplegia and has_material_basis_in mutation in the CYP7B1 gene on chromosome 8q12. https://www.ncbi.nlm.nih.gov/pubmed/18252231

References

• GARD:4926
• ICD10CM:G11.4
• OMIM:270800
• ORDO:100986

Ontology

Human Disease   ( DOID:0110810 )