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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, and Gait Abnormalities
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Accession:DOID:9006331 term browser browse the term
Definition:An autosomal recessive disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, impaired intellectual development with poor or absent speech and language, and progressive microcephaly.
Synonyms:exact_synonym: NEDMILG;   Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive
 primary_id: MIM:619091


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Neurodevelopmental Disorder with Microcephaly, Impaired Language, 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, and gait abnormalities OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32165824 PMID:32738225 PMID:32788587 More... NCBI chr18:57,989,308...58,005,584
Ensembl chr18:57,989,308...58,005,622 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    Developmental Disease 14522
      Neurodevelopmental Disorders 6940
        Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities 1
Path 2
Term Annotations click to browse term
  disease 19050
    disease of anatomical entity 18384
      nervous system disease 14257
        central nervous system disease 12589
          brain disease 11814
            disease of mental health 8411
              developmental disorder of mental health 5640
                specific developmental disorder 4598
                  communication disorder 413
                    language disorder 165
                      Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities 1
paths to the root