OBO ID: DOID:0110824
Term Name: hereditary spastic paraplegia 9A Search Ontology:
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:
Ontology: Human Disease   (DOID:0110824)
Relationships
is a type of:
OTHER hereditary spastic paraplegia 9A PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ALDH18A1 Spastic paraplegia 9A, autosomal dominant 601162
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None