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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 SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE
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Accession:DOID:9009099 term browser browse the term
Definition:A neurodevelopmental disorder characterized by severely delayed psychomotor development and hypotonia apparent from early infancy, resulting in feeding difficulties, ataxic gait or inability to walk, minimal or absent speech development, and severe intellectual disability, often with behavioral abnormalities, such as hand-flapping. (OMIM)
Synonyms:exact_synonym: NEDMIAL
 primary_id: OMIM:617804


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NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhx30 DExH-box helicase 30 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with severe motor impairment and absent language OMIM
ClinVar		 PMID:25741868 PMID:28327206 PMID:28492532 PMID:29100085 PMID:32581362 More... NCBI chr 8:110,064,751...110,096,954
Ensembl chr 8:110,064,752...110,097,381 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21108
    Developmental Disease 18429
      Neurodevelopmental Disorders 6770
        NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE 1
Path 2
Term Annotations click to browse term
  disease 21108
    disease of anatomical entity 18147
      nervous system disease 13987
        central nervous system disease 12334
          brain disease 11564
            disease of mental health 8223
              developmental disorder of mental health 5467
                specific developmental disorder 4432
                  communication disorder 369
                    language disorder 150
                      NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE 1
paths to the root