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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 6
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Accession:DOID:0110811 term browser browse the term
Definition:A hereditary spastic paraplegia that is usually characterized by rapidly progressive and severe spastic paraplegia and has_material_basis_in mutation in the NIPA1 gene on chromosome 15q11.2. (DO)
Synonyms:exact_synonym: FSP3;   SPG6;   autosomal dominant familial spastic paraplegia type 3;   autosomal dominant spastic paraplegia 6;   autosomal dominant spastic paraplegia type 6;   familial spastic paraplegia, autosomal dominant 3;   spastic paraplegia 6
 primary_id: MESH:C536866
 alt_id: OMIM:600363
 xref: ICD10CM:G11.4;   ORDO:100988
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
hereditary spastic paraplegia 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyfip1 cytoplasmic FMR1 interacting protein 1 ISO ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT ClinVar PMID:17268193, PMID:23032108, PMID:25689425, PMID:28492532 NCBI chr 1:114,258,773...114,347,138
Ensembl chr 1:114,258,719...114,347,137
JBrowse link
G Nipa1 NIPA magnesium transporter 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 6
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT
OMIM
ClinVar
PMID:7825577, PMID:14508710, PMID:15643603, PMID:15711826, PMID:16267846, PMID:17166836, PMID:17268193, PMID:17928003, PMID:19091982, PMID:19620182, PMID:20816793, PMID:21419568, PMID:21599812, PMID:22302102, PMID:22378146, PMID:23032108, PMID:23850684, PMID:24075313, PMID:24128679, PMID:25341883, PMID:25689425, PMID:26467025, PMID:27084228, PMID:28492532, PMID:28832565, PMID:30311386, PMID:32581362 NCBI chr 1:114,385,484...114,422,741
Ensembl chr 1:114,386,757...114,422,733
JBrowse link
G Nipa2 NIPA magnesium transporter 2 ISO ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT ClinVar PMID:17268193, PMID:23032108, PMID:25689425, PMID:28492532 NCBI chr 1:114,346,005...114,371,907
Ensembl chr 1:114,348,038...114,371,897
JBrowse link
G Tubgcp5 tubulin, gamma complex associated protein 5 ISO ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT ClinVar PMID:17268193, PMID:23032108, PMID:25689425, PMID:28492532 NCBI chr 1:114,186,853...114,222,516
Ensembl chr 1:114,186,853...114,222,516
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          paraplegia 163
            hereditary spastic paraplegia 147
              hereditary spastic paraplegia 6 4
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          neurodegenerative disease 3186
            Nervous System Heredodegenerative Disorders 1947
              motor peripheral neuropathy 537
                hereditary spastic paraplegia 147
                  hereditary spastic paraplegia 6 4
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.