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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: DOCK3-RELATED CONDITION;   NEDIDHA
 primary_id: MIM:618292


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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: DOCK3-related condition | 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 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    Developmental Disease 14664
      Neurodevelopmental Disorders 6967
        Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      nervous system disease 14359
        central nervous system disease 12634
          brain disease 11853
            disease of mental health 8450
              developmental disorder of mental health 5646
                specific developmental disorder 4609
                  intellectual disability 4381
                    Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia 1
paths to the root