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Metadata
ID DOID:0110810
Name hereditary spastic paraplegia 5A
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
Xrefs

GARD:4926

ICD10CM:G11.4

MIM:270800

ORDO:100986

Subsets

DO_rare_slim

Synonyms

autosomal recessive spastic paraplegia 5A [EXACT]

autosomal recessive spastic paraplegia type 5A [EXACT]

SPG5A [EXACT]

Parent Relationships

is_a hereditary spastic paraplegia

is_a autosomal recessive disease

Subclass Logical Relationships

has symptom some progressive weakness

has material basis in some autosomal recessive inheritance

has symptom some muscle weakness

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