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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 30
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Accession:DOID:0110781 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF1A gene on chromosome 2q37. (DO)
Synonyms:exact_synonym: SPG30;   autosomal recessive spastic paraplegia 30;   autosomal spastic paraplegia type 30
 primary_id: MESH:C563677
 alt_id: OMIM:610357
 xref: ORDO:101010
For additional species annotation, visit the Alliance of Genome Resources.


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hereditary spastic paraplegia 30 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by OMIM:610357
DNA:missense mutations: :p.A255V, p.R350G (human)
DNA:missense mutation: :p.A255V (human)
ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive
OMIM
ClinVar
PMID:16434418 PMID:18414213 PMID:21376300 PMID:21487076 PMID:21820098 PMID:22258533 PMID:24088041 PMID:25133958 PMID:25253658 PMID:25265257 PMID:25326635 PMID:25585697 PMID:25741868 PMID:26077850 PMID:26125038 PMID:26354034 PMID:26410750 PMID:26467025 PMID:26486474 PMID:26633545 PMID:27034427 PMID:27124789 PMID:27681307 PMID:28332297 PMID:28492532 PMID:28554332 PMID:28708303 PMID:28832565 PMID:28834584 PMID:28970574 PMID:29159194 PMID:29590070 PMID:30311386 PMID:30385166 PMID:30564185 PMID:31488895 PMID:31616253 PMID:31805580 PMID:32096284 PMID:32860008, PMID:22258533, PMID:21487076 RGD:12911224, RGD:12911228 NCBI chr 9:100,171,851...100,253,626
Ensembl chr 9:100,171,772...100,253,609
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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 30 1
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 30 1
paths to the root