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DO Term : hereditary spastic paraplegia 9A [DOID:0110824] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A hereditary spastic paraplegia that has_material_basis_in autosomal dominant heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.
  • synonyms:
  • ORDO:447753,
  • ICD10CM:G11.4,
  • Cataracts motor neuropathy-short stature-skeletal anomalies syndrome,
  • spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome,
  • spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux,
  • OMIM:601162,
  • ORDO:100990,
  • cataracts with motor neuronopathy, short stature and skeletal abnormalities,
  • autosomal dominant complex spastic paraplegia type 9A,
  • 601162,
  • SPG9A,
  • autosomal dominant spastic paraplegia 9A,
  • AD-SPG9A
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents