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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 75
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Accession:DOID:0110820 term browser browse the term
Definition:An autosomal recessive, slowly progressive neurodegenerative disorder characterized by onset of spastic paraplegia and cognitive impairment in childhood. (OMIM)
Synonyms:exact_synonym: SPG75;   autosomal recessive spastic paraplegia 75;   autosomal recessive spastic paraplegia type 75
 primary_id: OMIM:616680
 alt_id: RDO:9000771
 xref: ORDO:459056
For additional species annotation, visit the Alliance of Genome Resources.


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hereditary spastic paraplegia 75 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mag myelin-associated glycoprotein ISO ClinVar Annotator: match by term: Spastic paraplegia 75, autosomal recessive OMIM
ClinVar
PMID:24482476 PMID:25741868 PMID:26179919 PMID:28492532 PMID:28832565 NCBI chr 1:89,345,325...89,360,905
Ensembl chr 1:89,345,429...89,360,733
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          paraplegia 151
            hereditary spastic paraplegia 135
              hereditary spastic paraplegia 75 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          neurodegenerative disease 3216
            Nervous System Heredodegenerative Disorders 1915
              motor peripheral neuropathy 526
                hereditary spastic paraplegia 135
                  hereditary spastic paraplegia 75 1
paths to the root