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neurodevelopmental disorder with cerebellar atrophy and motor dysfunction - Ontology Report - Rat Genome Database

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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:0070443 term browser browse the term
Definition:An autosomal recessive intellectual developmental disorder characterized by cerebellar atrophy and global developmental delay with cognitive impairment, speech delay, and prominent motor abnormalities including axial hypotonia, gait ataxia, and appendicular spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GEMIN5 gene on chromosome 5q33.2. (DO)
Synonyms:exact_synonym: GEMIN5-RELATED CONDITION;   GEMIN5-RELATED NEURODEVELOPMENTAL DISORDER;   NEDCAM
 primary_id: MIM:619333
 alt_id: DOID:9000830

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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: GEMIN5-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction OMIM
ClinVar		 PMID:23892092 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 19145
    disease of anatomical entity 18457
      nervous system disease 14363
        neurodegenerative disease 5079
          primary cerebellar degeneration 592
            neurodevelopmental disorder with cerebellar atrophy and motor dysfunction 1
Path 2
Term Annotations click to browse term
  disease 19145
    disease of anatomical entity 18457
      nervous system disease 14363
        central nervous system disease 12646
          brain disease 11866
            disease of mental health 8477
              developmental disorder of mental health 5661
                specific developmental disorder 4628
                  intellectual disability 4396
                    autosomal recessive intellectual developmental disorder 298
                      neurodevelopmental disorder with cerebellar atrophy and motor dysfunction 1
paths to the root