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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 18
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Accession:DOID:0110771 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN2 gene on chromosome 8p11. (DO)
Synonyms:exact_synonym: IDMDC;   SPG18;   autosomal recessive spastic paraplegia 18;   autosomal recessive spastic paraplegia type 18;   intellectual disability, motor dysfunction, and joint contractures
 primary_id: MESH:C567628
 alt_id: OMIM:611225
 xref: GARD:4922;   ORDO:209951
For additional species annotation, visit the Alliance of Genome Resources.



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hereditary spastic paraplegia 18 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erlin2 ER lipid raft associated 2 ISO ClinVar Annotator: match by OMIM:611225
ClinVar Annotator: match by term: Hereditary spastic paraplegia 18
OMIM
ClinVar
PMID:21330303 PMID:23109145 PMID:25741868 NCBI chr16:65,017,654...65,034,184
Ensembl chr16:65,018,532...65,033,671
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    Developmental Disease 11133
      Neurodevelopmental Disorders 5760
        intellectual disability 3492
          hereditary spastic paraplegia 18 1
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      nervous system disease 12209
        central nervous system disease 10477
          brain disease 9840
            disease of mental health 7119
              developmental disorder of mental health 4434
                specific developmental disorder 3680
                  intellectual disability 3492
                    hereditary spastic paraplegia 18 1
paths to the root