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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
 alt_id: RDO:9000339
 xref: ORDO:401785
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:615681
ClinVar Annotator: match by term: Spastic paraplegia 62, autosomal recessive
ClinVar
OMIM
PMID:24482476 PMID:28492532 NCBI chr 1:263,810,439...263,845,762
Ensembl chr 1:263,810,439...263,845,762
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          paraplegia 162
            hereditary spastic paraplegia 146
              hereditary spastic paraplegia 62 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          neurodegenerative disease 3235
            Nervous System Heredodegenerative Disorders 1952
              motor peripheral neuropathy 536
                hereditary spastic paraplegia 146
                  hereditary spastic paraplegia 62 1
paths to the root