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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:Spastic Paraplegia 91, Autosomal Dominant, with or without Cerebellar Ataxia
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Accession:DOID:9008626 term browser browse the term
Definition:A highly variable neurologic disorder characterized by early-onset gait abnormalities due to spastic paraplegia of the lower limbs, sometimes with cerebellar ataxia. Caused by heterozygous mutation in the SPTAN1 gene on chromosome 9q34.
Synonyms:exact_synonym: SPG91
 primary_id: MIM:620538


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Spastic Paraplegia 91, Autosomal Dominant, with or without Cerebellar Ataxia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:35150594 PMID:36331550 NCBI chr 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19051
    disease of anatomical entity 18384
      nervous system disease 14258
        central nervous system disease 12591
          paraplegia 692
            hereditary spastic paraplegia 453
              Spastic Paraplegia 91, Autosomal Dominant, with or without Cerebellar Ataxia 1
Path 2
Term Annotations click to browse term
  disease 19051
    disease of anatomical entity 18384
      nervous system disease 14258
        central nervous system disease 12591
          neurodegenerative disease 5004
            Nervous System Heredodegenerative Disorders 3352
              motor peripheral neuropathy 1287
                hereditary spastic paraplegia 453
                  Spastic Paraplegia 91, Autosomal Dominant, with or without Cerebellar Ataxia 1
paths to the root