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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: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
For additional species annotation, visit the Alliance of Genome Resources.


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GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpaa1 glycosylphosphatidylinositol anchor attachment 1 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 ClinVar
OMIM
PMID:25741868, PMID:29100095 NCBI chr 7:117,394,367...117,397,950
Ensembl chr 7:117,394,372...117,397,956
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Nutritional and Metabolic Diseases 4725
      disease of metabolism 4725
        lipid metabolism disorder 900
          Glycosylphosphatidylinositol Deficiency 14
            GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 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
            epilepsy 1528
              Glycosylphosphatidylinositol Deficiency 14
                GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 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.