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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 Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities
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Accession:DOID:9008961 term browser browse the term
Synonyms:exact_synonym: NEDMILEG;   Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities, Autosomal Dominant
 primary_id: OMIM:619092
For additional species annotation, visit the Alliance of Genome Resources.



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Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nars1 asparaginyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities OMIM
ClinVar
PMID:25741868 PMID:32738225 NCBI chr18:57,989,308...58,005,639
Ensembl chr18:57,989,308...58,005,622
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18246
    Developmental Disease 13102
      Neurodevelopmental Disorders 6220
        Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities 1
Path 2
Term Annotations click to browse term
  disease 18246
    disease of anatomical entity 17610
      nervous system disease 13264
        central nervous system disease 11415
          brain disease 10712
            disease of mental health 7590
              developmental disorder of mental health 4924
                specific developmental disorder 4191
                  communication disorder 315
                    language disorder 146
                      Language Development Disorders 52
                        Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities 1
paths to the root