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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 9B
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Accession:DOID:0110825 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the ALDH18A1 gene on chromosome 10q24. (DO)
Synonyms:exact_synonym: SPG9B;   autosomal recessive complex spastic paraplegia type 9B;   autosomal recessive spastic paraplegia 9B
 primary_id: OMIM:616586
 alt_id: RDO:9001562
 xref: ORDO:447760
For additional species annotation, visit the Alliance of Genome Resources.



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hereditary spastic paraplegia 9B 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 term: Autosomal recessive complex spastic paraplegia type 9B | ClinVar Annotator: match by term: Spastic paraplegia 9b, autosomal recessive OMIM
ClinVar
PMID:25741868 PMID:26026163 PMID:26297558 PMID:28492532 NCBI chr 1:239,375,657...239,407,967
Ensembl chr 1:239,375,669...239,407,890
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        central nervous system disease 11323
          paraplegia 275
            hereditary spastic paraplegia 228
              hereditary spastic paraplegia 9B 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        central nervous system disease 11323
          neurodegenerative disease 3902
            Nervous System Heredodegenerative Disorders 2394
              motor peripheral neuropathy 683
                hereditary spastic paraplegia 228
                  hereditary spastic paraplegia 9B 1
paths to the root