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ONTOLOGY REPORT - ANNOTATIONS


Term:GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15
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Accession:DOID:9009067 term browser browse the term
Definition:An autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. (OMIM)
Synonyms:exact_synonym: DEVELOPMENTAL DELAY, EPILEPSY, CEREBELLAR ATROPHY, AND OSTEOPENIA;   GPIBD15
 primary_id: OMIM:617810
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GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpaa1 glycosylphosphatidylinositol anchor attachment 1 JBrowse link 7 117,394,367 117,397,950 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        lipid metabolism disorder 734
          Glycosylphosphatidylinositol Deficiency 13
            GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          brain disease 7561
            epilepsy 1080
              Glycosylphosphatidylinositol Deficiency 13
                GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.