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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar
OMIM
PMID:25741868 PMID:28492532 PMID:29106825 NCBI chr 7:18,598,991...18,612,132
Ensembl chr 7:18,598,880...18,612,147
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Neurodevelopmental Disorders 4534
        Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          brain disease 8405
            disease of mental health 5990
              Neurodevelopmental Disorders 4534
                Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter 1
paths to the root