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hereditary spastic paraplegia 9A

Go to external page http://purl.obolibrary.org/obo/DOID_0110824

A hereditary spastic paraplegia that has_material_basis_in autosomal dominant heterozygous mutation in the ALDH18A1 gene on chromosome 10q24. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

Term info

Label

hereditary spastic paraplegia 9A

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
database cross reference
has obo namespace

disease_ontology

id

DOID:0110824