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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 CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION
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Accession:DOID:9000830 term browser browse the term
Definition:This disease is an autosomal recessive disorder characterized by global developmental delay with prominent motor abnormalities, mainly axial hypotonia, gait ataxia, and appendicular spasticity. Affected individuals have cognitive impairment and speech delay; brain imaging shows cerebellar atrophy.
Synonyms:exact_synonym: NEDCAM
 primary_id: OMIM:619333


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NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gemin5 gem (nuclear organelle) associated protein 5 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33963192 NCBI chr10:42,295,729...42,342,902
Ensembl chr10:42,297,515...42,342,892 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21089
    Developmental Disease 18391
      Neurodevelopmental Disorders 6751
        NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION 1
Path 2
Term Annotations click to browse term
  disease 21089
    disease of anatomical entity 18156
      nervous system disease 13996
        central nervous system disease 12287
          brain disease 11531
            disease of mental health 8203
              Neurodevelopmental Disorders 6751
                NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION 1
paths to the root