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DOID:0110781 - hereditary spastic paraplegia 30
Disease Ontology Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF1A gene on chromosome 2q37.
Synonyms: autosomal dominant spastic paraplegia 30, autosomal recessive spastic paraplegia 30, autosomal spastic paraplegia type 30, SPG30
Xenbase Genes
:
kif1a
| MONDO:0012476 - skeleton of pelvic complex |
| MIM:610357 - SPASTIC PARAPLEGIA 30A, AUTOSOMAL DOMINANT; SPG30A |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal genetic disease (is_a),
autosomal recessive disease (is_a),
hereditary spastic paraplegia (is_a)