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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, Cataracts motor neuropathy-short stature-skeletal anomalies syndrome, SPG9A, autosomal dominant complex spastic paraplegia type 9A, autosomal dominant spastic paraplegia 9A, cataracts with motor neuronopathy, short stature and skeletal abnormalities, spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux, spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome,
Xenbase Genes
:
aldh18a1
| MONDO:0011006 - hereditary spastic paraplegia 9A |
Other Model Organisms: AGR, 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)