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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: SPG5A, autosomal recessive spastic paraplegia 5A, autosomal recessive spastic paraplegia type 5A,
Echinobase Genes :
MIM:270800 - spastic paraplegia 5a, autosomal recessive; spg5a |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
hereditary spastic paraplegia (is_a)