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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:Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures
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Accession:DOID:9001146 term browser browse the term
Synonyms:exact_synonym: GPIBD22;   NEDHCAS;   glycosylphosphatidylinositol biosynthesis defect 22
 primary_id: OMIM:618879
For additional species annotation, visit the Alliance of Genome Resources.



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Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigk phosphatidylinositol glycan anchor biosynthesis, class K ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
ClinVar
OMIM
PMID:25741868 PMID:32220290 PMID:33392778 NCBI chr 2:241,630,021...241,715,493
Ensembl chr 2:241,630,053...241,716,134
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    Developmental Disease 11029
      Neurodevelopmental Disorders 5786
        Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures 1
Path 2
Term Annotations click to browse term
  disease 17445
    Developmental Disease 11029
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9553
        genetic disease 9078
          inherited metabolic disorder 2663
            lipid metabolism disorder 1029
              Glycosylphosphatidylinositol Deficiency 37
                Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures 1
paths to the root