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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 61
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Accession:DOID:0110812 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the ARL6IP1 gene on chromosome 16p12. (DO)
Synonyms:exact_synonym: SPG61;   autosomal recessive spastic paraplegia 61;   autosomal recessive spastic paraplegia type 61;   spastic paraplegia-61
 primary_id: OMIM:615685
 alt_id: RDO:9001113
 xref: ORDO:401780
For additional species annotation, visit the Alliance of Genome Resources.


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hereditary spastic paraplegia 61 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl6ip1 ADP-ribosylation factor like GTPase 6 interacting protein 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 61, autosomal recessive OMIM
ClinVar
PMID:28492532 NCBI chr 1:187,770,160...187,779,675
Ensembl chr 1:187,770,160...187,779,675
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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 61 1
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 61 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.