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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 ClinVar
OMIM
PMID:10854253, PMID:10884317, PMID:12432077, PMID:12566533, PMID:14569117, PMID:14682358, PMID:15234347, PMID:15284851, PMID:15494731, PMID:15829629, PMID:17046689, PMID:17055478, PMID:17911219, PMID:19129390, PMID:20368433, PMID:24870542, PMID:24896178, PMID:25016980, PMID:25348405, PMID:25599672, PMID:25741868, PMID:28139846, PMID:28195318, PMID:28492532, PMID:29130632, PMID:30976111 NCBI chr 8:115,627,282...115,982,260
Ensembl chr 8:115,629,583...115,981,910
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Neurodevelopmental Disorders 4582
        Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            disease of mental health 6015
              developmental disorder of mental health 3136
                specific developmental disorder 2310
                  intellectual disability 2131
                    Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.