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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
 xref: MIM:614067;   MONDO:0013552;   NCI:C212890


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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: Hereditary spastic paraplegia 52 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21620353 PMID:23167973 More... NCBI chr 6:74,863,742...74,916,907
Ensembl chr 6:74,868,558...74,912,406 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          paraplegia 704
            hereditary spastic paraplegia 466
              hereditary spastic paraplegia 52 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            Chronic Brain Damage 110
              cerebral palsy 108
                spastic cerebral palsy 50
                  spastic quadriplegic cerebral palsy 44
                    hereditary spastic paraplegia 52 1
paths to the root