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DOID:0110824 - hereditary spastic paraplegia 9A
Disease Ontology Definition:A hereditary spastic paraplegia that has_material_basis_in autosomal dominant heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.
Synonyms: AD-SPG9A, autosomal dominant complex spastic paraplegia type 9A, autosomal dominant spastic paraplegia 9A, Cataracts motor neuropathy-short stature-skeletal anomalies syndrome, cataracts with motor neuronopathy, short stature and skeletal abnormalities, spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome, spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux, SPG9A
Xenbase Genes : aldh18a1
MONDO:0011006 - hereditary spastic paraplegia 9A |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
autosomal recessive disease (is_a),
hereditary spastic paraplegia (is_a)