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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:28362824, PMID:28492532, PMID:28554332, PMID:28708278, PMID:28708303, PMID:28832565, PMID:28834584, PMID:28835676, PMID:28970574, PMID:29159194, PMID:29590070, PMID:30311386, PMID:30385166, PMID:30564185, PMID:31488895, 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 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          paraplegia 163
            hereditary spastic paraplegia 147
              hereditary spastic paraplegia 30 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          neurodegenerative disease 3191
            Nervous System Heredodegenerative Disorders 1950
              motor peripheral neuropathy 536
                hereditary spastic paraplegia 147
                  hereditary spastic paraplegia 30 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.