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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 Impaired Intellectual Development, Hypotonia, and Ataxia
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Accession:DOID:9002933 term browser browse the term
Definition:NEDIDHA is caused by homozygous or compound heterozygous mutation in the DOCK3 gene (603123) on chromosome 3p21. (OMIM)
Synonyms:exact_synonym: NEDIDHA
 primary_id: OMIM:618292
For additional species annotation, visit the Alliance of Genome Resources.


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Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dock3 dedicator of cyto-kinesis 3 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia OMIM
ClinVar		 PMID:25741868 PMID:28195318 PMID:28492532 PMID:29130632 PMID:30976111 NCBI chr 8:107,552,462...107,903,527
Ensembl chr 8:107,552,463...107,903,514 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20988
    Developmental Disease 18234
      Neurodevelopmental Disorders 6720
        Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia 1
Path 2
Term Annotations click to browse term
  disease 20988
    disease of anatomical entity 18178
      nervous system disease 14109
        central nervous system disease 12333
          brain disease 11575
            disease of mental health 8170
              developmental disorder of mental health 5419
                specific developmental disorder 4409
                  intellectual disability 4220
                    Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia 1
paths to the root