| Metadata | |
|---|---|
| ID | DOID:0110824 |
| Name | hereditary spastic paraplegia 9A |
| 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 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
AD-SPG9A [EXACT] autosomal dominant complex spastic paraplegia type 9A [EXACT] autosomal dominant spastic paraplegia 9A [EXACT] Cataracts motor neuropathy-short stature-skeletal anomalies syndrome [EXACT] cataracts with motor neuronopathy, short stature and skeletal abnormalities [EXACT] spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux [EXACT] spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome [EXACT] SPG9A [EXACT] |
| Parent Relationships |