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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 motor neuropathy-short stature-skeletal anomalies syndrome;   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;   cataracts with motor neuronopathy, short stature, and skeletal abnormalities;   cataracts, motor neuronopathy, short stature and skeletal abnormalities;   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
 xref: ORDO:100990;   ORDO:447753


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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 DNA:mutations:cds:p.V243L, p.R252Q(human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy | ClinVar Annotator: match by term: Cataracts, motor neuronopathy, short stature and skeletal abnormalities | ClinVar Annotator: match by term: Hereditary spastic paraplegia 9A | ClinVar Annotator: match by term: SPASTIC PARAPARESIS WITH AMYOTROPHY, CATARACTS, AND GASTROESOPHAGEAL REFLUX		 OMIM
CTD
ClinVar
RGD		 PMID:8779323 PMID:9643297 PMID:9973297 PMID:21739576 PMID:24913064 More... RGD:11056004 NCBI chr 1:239,375,657...239,407,956
Ensembl chr 1:239,375,669...239,407,890 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13345
      Pathologic Processes 7991
        Growth Disorders 1012
          hereditary spastic paraplegia 9A 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          neurodegenerative disease 4906
            Nervous System Heredodegenerative Disorders 3255
              motor peripheral neuropathy 1201
                hereditary spastic paraplegia 445
                  hereditary spastic paraplegia 9A 1
paths to the root