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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:cerebellar hyplasia/atrophy, epilepsy, and global developmental delay
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Accession:DOID:0070339 term browser browse the term
Definition:A syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus. (DO)
Synonyms:alt_id: OMIM:213000
 xref: ORDO:2246
For additional species annotation, visit the Alliance of Genome Resources.


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cerebellar hyplasia/atrophy, epilepsy, and global developmental delay term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Oxr1 oxidation resistance 1 ISO OMIM NCBI chr 7:80,351,774...80,788,094
Ensembl chr 7:80,351,774...80,788,094
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    syndrome 6993
      cerebellar hyplasia/atrophy, epilepsy, and global developmental delay 1
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      nervous system disease 10864
        central nervous system disease 9008
          brain disease 8328
            disease of mental health 5992
              Neurodevelopmental Disorders 4557
                Developmental Disabilities 641
                  cerebellar hypoplasia 47
                    cerebellar hyplasia/atrophy, epilepsy, and global developmental delay 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.