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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 73
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Accession:DOID:0110818 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the CPT1C gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: SPG73;   autosomal dominant spastic paraplegia 73;   autosomal dominant spastic paraplegia type 73
 primary_id: OMIM:616282
 alt_id: RDO:9001558
 xref: ORDO:444099


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hereditary spastic paraplegia 73 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpt1c carnitine palmitoyltransferase 1c ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 73
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:25751282 More... NCBI chr 1:95,442,814...95,457,347
Ensembl chr 1:95,442,817...95,457,342 		JBrowse link
G Gpt2 glutamic--pyruvic transaminase 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 73 ClinVar PMID:25741868 NCBI chr19:21,526,800...21,561,314
Ensembl chr19:21,517,621...21,560,610 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        central nervous system disease 12430
          paraplegia 562
            hereditary spastic paraplegia 445
              hereditary spastic paraplegia 73 2
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        central nervous system disease 12430
          neurodegenerative disease 4902
            Nervous System Heredodegenerative Disorders 3254
              motor peripheral neuropathy 1201
                hereditary spastic paraplegia 445
                  hereditary spastic paraplegia 73 2
paths to the root