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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 7
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Accession:DOID:0110816 term browser browse the term
Definition:A hereditary spastic paraplegia that is characterized by slowly progressive onset, usually between 18-60 years of age, and generally more severe spasticity and has_material_basis_in mutation in the SPG7 gene on chromosome 16q24. (DO)
Synonyms:exact_synonym: SPG7;   autosomal recessive spastic paraplegia 7;   hereditary spastic paraplegia, paraplegin type;   spastic paraplegia 7;   spastic paraplegia type 7
 primary_id: MESH:C564599;   MESH:C580457
 alt_id: OMIM:607259
 xref: ORDO:99013
For additional species annotation, visit the Alliance of Genome Resources.


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hereditary spastic paraplegia 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1b calcium voltage-gated channel subunit alpha1 B ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:25741868 NCBI chr 3:1,740,026...1,924,959
Ensembl chr 3:1,740,024...1,924,827
JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Spastic paraplegia 7, autosomal recessive ClinVar PMID:25326637 PMID:25741868 PMID:30311386 NCBI chr 8:68,569,530...68,678,349
Ensembl chr 8:68,569,530...68,678,349
JBrowse link
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin ISS OMIM:607259 MouseDO NCBI chr19:55,880,549...55,914,729
Ensembl chr19:55,880,561...55,915,502
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          paraplegia 162
            hereditary spastic paraplegia 146
              hereditary spastic paraplegia 7 3
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          neurodegenerative disease 3235
            Nervous System Heredodegenerative Disorders 1952
              motor peripheral neuropathy 536
                hereditary spastic paraplegia 146
                  hereditary spastic paraplegia 7 3
paths to the root