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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 16
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Accession:DOID:9009068 term browser browse the term
Synonyms:exact_synonym: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 62;   MRT62
 primary_id: OMIM:617816
For additional species annotation, visit the Alliance of Genome Resources.



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Glycosylphosphatidylinositol Biosynthesis Defect 16 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigc phosphatidylinositol glycan anchor biosynthesis, class C ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16 ClinVar
OMIM
PMID:25741868 PMID:25741900 PMID:27694521 NCBI chr13:74,343,619...74,346,148
Ensembl chr13:74,296,854...74,346,211
JBrowse link
G RGD1309106 similar to hypothetical protein ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16 ClinVar PMID:25741868 PMID:25741900 PMID:27694521 NCBI chr13:74,313,320...74,356,322
Ensembl chr13:74,313,322...74,356,322
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Neurodevelopmental Disorders 5718
        intellectual disability 3475
          Glycosylphosphatidylinositol Biosynthesis Defect 16 2
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            disease of mental health 7070
              developmental disorder of mental health 4405
                specific developmental disorder 3664
                  intellectual disability 3475
                    Glycosylphosphatidylinositol Biosynthesis Defect 16 2
paths to the root