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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 48
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Accession:DOID:0110800 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the AP5Z1 gene on chromosome 7p22.1. (DO)
Synonyms:exact_synonym: SPG48;   autosomal recessive spastic paraplegia 48;   autosomal recessive spastic paraplegia type 48;   spastic paraplegia 48
 primary_id: MIM:613647
 xref: ORDO:306511


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hereditary spastic paraplegia 48 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP5Z1 adaptor related protein complex 5 subunit zeta 1 IAGP
ISS		 ClinVar Annotator: match by term: Hereditary spastic paraplegia 48
OMIM:613647		 OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20613862 PMID:24033266 More... NCBI chr 7:4,775,623...4,794,397
Ensembl chr 7:4,775,615...4,794,397 		JBrowse link
G LOC129997861 ATAC-STARR-seq lymphoblastoid active region 25565 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 48 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:4,775,702...4,775,771 JBrowse link
G LOC129997864 ATAC-STARR-seq lymphoblastoid silent region 17903 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 48 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:4,792,234...4,792,353 JBrowse link
G LOC129997865 ATAC-STARR-seq lymphoblastoid active region 25568 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 48 ClinVar PMID:28492532 NCBI chr 7:4,792,744...4,792,823 JBrowse link
G MIR4656 microRNA 4656 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 48 ClinVar PMID:25741868 PMID:28492532 PMID:31673878 NCBI chr 7:4,788,565...4,788,639
Ensembl chr 7:4,788,565...4,788,639 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97386
    disease of anatomical entity 91015
      nervous system disease 53020
        central nervous system disease 38426
          paraplegia 856
            hereditary spastic paraplegia 583
              hereditary spastic paraplegia 48 5
Path 2
Term Annotations click to browse term
  disease 97386
    disease of anatomical entity 91015
      nervous system disease 53020
        central nervous system disease 38426
          neurodegenerative disease 7862
            Nervous System Heredodegenerative Disorders 4903
              motor peripheral neuropathy 1659
                hereditary spastic paraplegia 583
                  hereditary spastic paraplegia 48 5
paths to the root