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
MIM:270800
ORDO:100986

Ontology

Human Disease ( DOID:0110810 )

Relationships

is a type of: autosomal recessive disease hereditary spastic paraplegia

autosomal recessive disease hereditary spastic paraplegia Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations