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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
For additional species annotation, visit the Alliance of Genome Resources.


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hereditary spastic paraplegia 9A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO ClinVar Annotator: match by OMIM:601162
DNA:mutations:cds:p.V243L, p.R252Q(human)
ClinVar Annotator: match by term: SPASTIC PARAPARESIS WITH AMYOTROPHY, CATARACTS, AND GASTROESOPHAGEAL REFLUX
ClinVar Annotator: match by term: Hereditary spastic paraplegia 9A
ClinVar Annotator: match by term: Bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy
OMIM
ClinVar
PMID:8779323, PMID:9973297, PMID:24913064, PMID:25741868, PMID:26026163, PMID:26297558, PMID:28492532, PMID:26297558 RGD:11056004 NCBI chr 1:259,641,673...259,674,521
Ensembl chr 1:259,641,676...259,674,425
Ensembl chr 1:259,641,676...259,674,425
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Pathological Conditions, Signs and Symptoms 8726
      Pathologic Processes 6130
        Growth Disorders 321
          hereditary spastic paraplegia 9A 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          neurodegenerative disease 3186
            Nervous System Heredodegenerative Disorders 1947
              motor peripheral neuropathy 537
                hereditary spastic paraplegia 147
                  hereditary spastic paraplegia 9A 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.