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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 Ataxic Gait, Absent Speech, and Decreased Cortical White Matter
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Accession:DOID:9009096 term browser browse the term
Definition:A neurodevelopmental disorder characterized by severely delayed psychomotor development apparent from infancy. Brain imaging shows decreased cortical white matter. (OMIM)
Synonyms:exact_synonym: NDAGSCW
 primary_id: OMIM:617807


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Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab11b RAB11B, member RAS oncogene family ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29106825 NCBI chr 7:14,521,448...14,534,589
Ensembl chr 7:14,521,368...14,534,593 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Neurodevelopmental Disorders 6831
        Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            disease of mental health 8300
              Neurodevelopmental Disorders 6831
                Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter 1
paths to the root