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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 eye movement abnormalities and ataxia
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Accession:DOID:0081275 term browser browse the term
Definition:An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy and that has_material_basis_in heterozygous mutation in the FRMD5 gene on chromosome 15q15. Affected individuals show delayed walking with an unsteady gait, variably impaired intellectual development, learning disabilities, and speech difficulties. (DO)
Synonyms:exact_synonym: NEDEMA
 primary_id: MIM:620094
 alt_id: DOID:9000753


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neurodevelopmental disorder with eye movement abnormalities and ataxia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Frmd5 FERM domain containing 5 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with eye movement abnormalities and ataxia OMIM
ClinVar		 PMID:25741868 PMID:36206744 NCBI chr 3:108,492,099...108,763,715
Ensembl chr 3:108,474,562...108,763,498 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    sensory system disease 7326
      eye disease 3695
        Eye Abnormalities 811
          neurodevelopmental disorder with eye movement abnormalities and ataxia 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14333
        central nervous system disease 12605
          brain disease 11834
            disease of mental health 8427
              developmental disorder of mental health 5649
                specific developmental disorder 4605
                  intellectual disability 4384
                    autosomal dominant intellectual developmental disorder 455
                      neurodevelopmental disorder with eye movement abnormalities and ataxia 1
paths to the root