Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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;   SPG51;   autosomal dominant spastic paraplegia 51;   spastic quadriplegic cerebral palsy 4
 primary_id: OMIM:613744
 xref: GARD:10999
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 PMID:28492532 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 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        central nervous system disease 10192
          paraplegia 144
            hereditary spastic paraplegia 131
              hereditary spastic paraplegia 51 2
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        central nervous system disease 10192
          neurodegenerative disease 3342
            Nervous System Heredodegenerative Disorders 1977
              motor peripheral neuropathy 480
                hereditary spastic paraplegia 131
                  hereditary spastic paraplegia 51 2
paths to the root