Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.



show annotations for term's descendants           Sort by:
 
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 ClinVar
OMIM
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 17289
    Developmental Disease 10990
      Neurodevelopmental Disorders 5718
        Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            disease of mental health 7070
              developmental disorder of mental health 4405
                specific developmental disorder 3664
                  intellectual disability 3475
                    Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia 1
paths to the root