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ONTOLOGY REPORT - ANNOTATIONS


Term:hereditary spastic paraplegia 9A
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Accession:DOID:0110824 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in autosomal dominant heterozygous mutation in the ALDH18A1 gene on chromosome 10q24. (DO)
Synonyms:exact_synonym: AD-SPG9A;   Cataracts With Motor Neuronopathy, Short Stature, And Skeletal Abnormalities;   Cataracts motor neuropathy-short stature-skeletal anomalies syndrome;   Cataracts, motor neuronopathy, short stature and skeletal abnormalities;   SPG9A;   autosomal dominant complex spastic paraplegia type 9A;   autosomal dominant spastic paraparesis;   autosomal dominant spastic paraplegia 9A;   bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy;   spastic paraparesis with amyopathy, cataracts, and gastroesophageal reflux;   spastic paraparesis with amyotrophy, cataracts, and gastroesophageal reflux;   spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome
 primary_id: MESH:C536868
 alt_id: OMIM:601162;   RDO:0002581
 xref: ORDO:100990;   ORDO:447753
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hereditary spastic paraplegia 9A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 JBrowse link 1 259,641,673 259,674,521 RGD:7240710
RGD:8554872
RGD:11056004

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Path 1
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  disease 15619
    Pathological Conditions, Signs and Symptoms 8030
      Pathologic Processes 5078
        Growth Disorders 246
          hereditary spastic paraplegia 9A 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          neurodegenerative disease 2691
            Nervous System Heredodegenerative Disorders 1718
              motor peripheral neuropathy 457
                hereditary spastic paraplegia 117
                  hereditary spastic paraplegia 9A 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.