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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;   Intellectual Disability, Motor Dysfunction, and Joint Contractures;   SPG18;   autosomal recessive spastic paraplegia 18;   autosomal recessive spastic paraplegia type 18
 primary_id: MESH:C567628
 alt_id: OMIM:611225;   RDO:0012019
 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 OMIM
ClinVar
PMID:21330303, PMID:23109145 NCBI chr16:69,179,005...69,195,452
Ensembl chr16:69,179,588...69,195,097
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Neurodevelopmental Disorders 4582
        intellectual disability 2131
          hereditary spastic paraplegia 18 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            disease of mental health 6015
              developmental disorder of mental health 3136
                specific developmental disorder 2310
                  intellectual disability 2131
                    hereditary spastic paraplegia 18 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.