Search Ontology:
Human Disease

hereditary spastic paraplegia 9A

Term ID
DOID:0110824
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 with amyopathy, cataracts and gastroesophageal reflux
  • spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome
  • SPG9A
Definition
A hereditary spastic paraplegia that has_material_basis_in autosomal dominant heterozygous mutation in the ALDH18A1 gene on chromosome 10q24. https://www.ncbi.nlm.nih.gov/pubmed/26026163
References
  • ICD10CM:G11.4
  • MIM:601162
  • ORDO:100990
  • ORDO:447753
Ontology
Human Disease   ( DOID:0110824 )
Relationships
is a type of
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Genes Involved
Zebrafish Models