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ONTOLOGY REPORT - ANNOTATIONS


Term:SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY
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Accession:DOID:9008346 term browser browse the term
Definition:An autosomal dominant neurologic disorder characterized by rapid growth in infancy, global developmental delay, spastic paraplegia, variable ophthalmologic defects, and dysmorphic facial features. (OMIM)
Synonyms:exact_synonym: SINO
 primary_id: OMIM:617296;   RDO:9001563
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SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kidins220 kinase D-interacting substrate 220 JBrowse link 6 44,225,142 44,322,938 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    Developmental Diseases 9336
      Neurodevelopmental Disorders 4302
        intellectual disability 1940
          SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY 1
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        central nervous system disease 8860
          brain disease 8147
            disease of mental health 5775
              developmental disorder of mental health 2917
                specific developmental disorder 2099
                  intellectual disability 1940
                    SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.