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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 81
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Accession:DOID:0112349 term browser browse the term
Definition:A hereditary spastic paraplegia characterized by onset in infancy, delayed motor development, progressive spasticity, and other neurologic impairments that has_material_basis_in homozygous or compound heterozygous mutation in the SELENOI gene on chromosome 2p23.3. (DO)
Synonyms:exact_synonym: SPG81;   autosomal recessive complex SPG due to Kennedy pathway dysfunction;   autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction;   spastic paraplegia 81 autosomal recessive
 primary_id: OMIM:618768
 alt_id: DOID:9005550
 xref: ORDO:506353


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hereditary spastic paraplegia 81 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Selenoi selenoprotein I ISO ClinVar Annotator: match by term: Spastic paraplegia 81, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28052917 PMID:29500230 PMID:33454747 PMID:36942482 NCBI chr 6:26,073,127...26,111,326
Ensembl chr 6:26,072,648...26,111,314 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        central nervous system disease 12399
          paraplegia 562
            hereditary spastic paraplegia 445
              hereditary spastic paraplegia 81 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        central nervous system disease 12399
          neurodegenerative disease 4893
            Nervous System Heredodegenerative Disorders 3247
              motor peripheral neuropathy 1202
                hereditary spastic paraplegia 445
                  hereditary spastic paraplegia 81 1
paths to the root