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ONTOLOGY REPORT - ANNOTATIONS


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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Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      Neurodevelopmental Disorders 4071
        intellectual disability 1705
          hereditary spastic paraplegia 18 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        central nervous system disease 8096
          brain disease 7565
            disease of mental health 5517
              developmental disorder of mental health 2710
                specific developmental disorder 1882
                  intellectual disability 1705
                    hereditary spastic paraplegia 18 1
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