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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
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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    Developmental Disease 11133
      Neurodevelopmental Disorders 5760
        NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES 1
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      nervous system disease 12209
        central nervous system disease 10477
          brain disease 9840
            disease of mental health 7119
              developmental disorder of mental health 4434
                specific developmental disorder 3680
                  communication disorder 259
                    language disorder 110
                      Language Development Disorders 43
                        NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES 1
paths to the root