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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 52
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Accession:DOID:0110804 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4S1 gene on chromosome 14q12. (DO)
Synonyms:exact_synonym: CPSQ6;   Cerebral Palsy, Spastic Quadriplegic, 6;   SPG52;   autosomal recessive spastic paraplegia 52
 primary_id: OMIM:614067
For additional species annotation, visit the Alliance of Genome Resources.



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hereditary spastic paraplegia 52 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap4s1 adaptor related protein complex 4 subunit sigma 1 ISO ClinVar Annotator: match by term: Spastic paraplegia 52, autosomal recessive OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18414213 PMID:21620353 PMID:23167973 More... NCBI chr 6:69,133,403...69,174,488
Ensembl chr 6:69,133,373...69,175,496
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        central nervous system disease 11254
          paraplegia 262
            hereditary spastic paraplegia 227
              hereditary spastic paraplegia 52 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        central nervous system disease 11254
          brain disease 10539
            Chronic Brain Damage 74
              cerebral palsy 72
                spastic cerebral palsy 17
                  spastic quadriplegia 15
                    hereditary spastic paraplegia 52 1
paths to the root