hereditary spastic paraplegia 5A

Summary

DOID:0110810 - hereditary spastic paraplegia 5A

Disease Ontology 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.

Synonyms: autosomal recessive spastic paraplegia 5A, autosomal recessive spastic paraplegia type 5A, SPG5A

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: cyp7b1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010047 - hereditary spastic paraplegia 5A

MONDO:0010047 - hereditary spastic paraplegia 5A

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), hereditary spastic paraplegia (is_a)