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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;   SPG51;   autosomal dominant spastic paraplegia 51;   spastic quadriplegic cerebral palsy 4
 broad_synonym: AP4E1-RELATED CONDITION
 primary_id: OMIM:613744
 xref: GARD:10999


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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 IAGP
EXP		 ClinVar Annotator: match by term: Hereditary spastic paraplegia 51
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:18414213 PMID:20972249 PMID:21937992 PMID:23472171 PMID:25167861 More... NCBI chr15:50,907,492...51,005,895
Ensembl chr15:50,908,672...51,005,895 		JBrowse link
G LOC125078079 Sharpr-MPRA regulatory region 3374 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 51 ClinVar PMID:20972249 NCBI chr15:50,811,672...50,811,966 JBrowse link
G LOC130057047 ATAC-STARR-seq lymphoblastoid silent region 6430 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 51 ClinVar PMID:20972249 NCBI chr15:50,765,281...50,765,740 JBrowse link
G LOC130057048 ATAC-STARR-seq lymphoblastoid active region 9398 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 51 ClinVar PMID:20972249 NCBI chr15:50,854,708...50,854,757 JBrowse link
G LOC130057049 ATAC-STARR-seq lymphoblastoid active region 9399 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 51 ClinVar PMID:20972249 NCBI chr15:50,879,036...50,879,205 JBrowse link
G LOC130057050 ATAC-STARR-seq lymphoblastoid active region 9400 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 51 ClinVar PMID:20972249 NCBI chr15:50,884,267...50,884,386 JBrowse link
G SPPL2A signal peptide peptidase like 2A IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 51 ClinVar PMID:20972249 NCBI chr15:50,702,266...50,765,706
Ensembl chr15:50,702,266...50,765,948 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        central nervous system disease 23468
          paraplegia 718
            hereditary spastic paraplegia 568
              hereditary spastic paraplegia 51 7
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        central nervous system disease 23468
          brain disease 21902
            Chronic Brain Damage 131
              cerebral palsy 129
                spastic cerebral palsy 61
                  spastic quadriplegic cerebral palsy 58
                    hereditary spastic paraplegia 51 7
paths to the root