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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 76
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Accession:DOID:0110821 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the CAPN1 gene on chromosome 11q13. (DO)
Synonyms:exact_synonym: AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 76;   SPG76;   autosomal recessive hereditary spastic paraplegia-76;   autosomal recessive spastic paraplegia 76;   spastic paraplegia-76;   spinocerebellar ataxia, CAPN1-related
 primary_id: OMIM:616907
 alt_id: OMIA:001820;   RDO:9000338
 xref: EFO:0009019;   NCI:C157150


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hereditary spastic paraplegia 76 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Capn1 calpain 1 ISO ClinVar Annotator: match by term: Autosomal recessive spastic paraplegia type 76
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27153400 PMID:27320912 More... NCBI chr 1:203,275,912...203,300,848
Ensembl chr 1:203,277,344...203,300,177 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        central nervous system disease 12429
          paraplegia 562
            hereditary spastic paraplegia 445
              hereditary spastic paraplegia 76 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        central nervous system disease 12429
          neurodegenerative disease 4905
            Nervous System Heredodegenerative Disorders 3254
              motor peripheral neuropathy 1201
                hereditary spastic paraplegia 445
                  hereditary spastic paraplegia 76 1
paths to the root