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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 JBrowse Chr Start Stop Reference
G Erlin2 ER lipid raft associated 2 JBrowse link 16 69,179,005 69,195,452 RGD:7240710
RGD:8554872

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  disease 14759
    Developmental Diseases 7628
      Neurodevelopmental Disorders 2745
        intellectual disability 1146
          hereditary spastic paraplegia 18 1
Path 2
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  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            disease of mental health 4314
              developmental disorder of mental health 2584
                specific developmental disorder 1319
                  intellectual disability 1146
                    hereditary spastic paraplegia 18 1
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