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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
 narrow_synonym: SPG18A;   SPG18B;   autosomal dominant spastic paraplegia 18A;   autosomal recessive spastic paraplegia 18B
 primary_id: MESH:C567628
 alt_id: OMIM:611225;   OMIM:620512
 xref: GARD:4922;   ORDO:209951


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 18 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 18A, AUTOSOMAL DOMINANT		 OMIM
CTD
ClinVar		 PMID:21330303 PMID:23109145 PMID:25741868 PMID:28492532 PMID:29528531 More... NCBI chr16:65,017,654...65,034,184
Ensembl chr16:65,018,532...65,033,671 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21122
    Developmental Disease 18454
      Neurodevelopmental Disorders 6792
        intellectual disability 4253
          hereditary spastic paraplegia 18 1
Path 2
Term Annotations click to browse term
  disease 21122
    disease of anatomical entity 18162
      nervous system disease 14004
        central nervous system disease 12353
          brain disease 11587
            disease of mental health 8249
              developmental disorder of mental health 5493
                specific developmental disorder 4448
                  intellectual disability 4253
                    hereditary spastic paraplegia 18 1
paths to the root