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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:An autosomal recessive neurologic disorder characterized by young-adult onset of slowly progressive spasticity of the lower limbs resulting in gait difficulties. (OMIM)
Synonyms:exact_synonym: 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: NCI:C157150
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:616907
ClinVar Annotator: match by term: Spastic paraplegia 76, autosomal recessive
ClinVar
OMIM
PMID:25741868 PMID:27153400 PMID:32214227 PMID:32860008 PMID:33486633 NCBI chr 1:221,346,081...221,370,965
Ensembl chr 1:221,346,066...221,370,322
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          paraplegia 144
            hereditary spastic paraplegia 131
              hereditary spastic paraplegia 76 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          neurodegenerative disease 3220
            Nervous System Heredodegenerative Disorders 1911
              motor peripheral neuropathy 522
                hereditary spastic paraplegia 131
                  hereditary spastic paraplegia 76 1
paths to the root