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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 62
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Accession:DOID:0110813 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN1 gene on chromosome 10q24. (DO)
Synonyms:exact_synonym: SPG62;   autosomal recessive spastic paraplegia 62;   autosomal recessive spastic paraplegia type 62;   spastic paraplegia-62
 primary_id: OMIM:615681
 xref: ORDO:401785

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hereditary spastic paraplegia 62 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erlin1 ER lipid raft associated 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 62 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24482476 PMID:25741868 More... NCBI chrNW_004955507:6,029,247...6,062,946
Ensembl chrNW_004955507:6,028,324...6,063,689 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        central nervous system disease 10855
          paraplegia 538
            hereditary spastic paraplegia 429
              hereditary spastic paraplegia 62 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        central nervous system disease 10855
          neurodegenerative disease 4401
            Nervous System Heredodegenerative Disorders 3017
              motor peripheral neuropathy 1148
                hereditary spastic paraplegia 429
                  hereditary spastic paraplegia 62 1
paths to the root