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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 25
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Accession:DOID:9003554 term browser browse the term
Definition:A glycosylphosphatidylinositol biosynthesis defect caused by homozygous mutation in the C18ORF32 gene on chromosome 18q21.
Synonyms:exact_synonym: GPIBD25;   neurodevelopmental disorder with hypotonia and contractures
 primary_id: MIM:619985


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Glycosylphosphatidylinositol Biosynthesis Defect 25 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C18h18orf32 similar to human chromosome 18 open reading frame 32 ISO ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 25 OMIM
ClinVar		 PMID:28492532 PMID:35107634 NCBI chr18:68,586,278...68,594,851
Ensembl chr18:68,586,211...68,596,787 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19065
    Developmental Disease 14582
      Neurodevelopmental Disorders 6894
        Developmental Disabilities 775
          Glycosylphosphatidylinositol Biosynthesis Defect 25 1
Path 2
Term Annotations click to browse term
  disease 19065
    disease of anatomical entity 18355
      nervous system disease 14221
        central nervous system disease 12556
          brain disease 11776
            disease of mental health 8368
              Neurodevelopmental Disorders 6894
                Developmental Disabilities 775
                  Glycosylphosphatidylinositol Biosynthesis Defect 25 1
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