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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 51
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Accession:DOID:0110803 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4E1 gene on chromosome 15q21. (DO)
Synonyms:exact_synonym: CPSQ4;   Cerebral Palsy, Spastic Quadriplegic, 4;   SPG51;   autosomal dominant spastic paraplegia 51
 primary_id: OMIM:613744
 alt_id: RDO:9001080
 xref: GARD:10999
For additional species annotation, visit the Alliance of Genome Resources.


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hereditary spastic paraplegia 51 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap4e1 adaptor related protein complex 4 subunit epsilon 1 ISO ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 4
ClinVar Annotator: match by OMIM:613744
OMIM
ClinVar
PMID:20972249, PMID:21620353, PMID:21937992, PMID:25741868 NCBI chr 3:119,484,714...119,548,491
Ensembl chr 3:119,484,677...119,548,621
JBrowse link
G Sppl2a signal peptide peptidase-like 2A ISO ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 4 ClinVar PMID:20972249 NCBI chr 3:119,361,651...119,405,453
Ensembl chr 3:119,361,655...119,405,453
JBrowse link

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 51 2
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 51 2
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.