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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 VISUAL DEFECTS AND BRAIN ANOMALIES
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Accession:DOID:9003818 term browser browse the term
Definition:A disease characterized by global developmental delay with impaired intellectual development and speech delay, visual defects, and structural brain abnormalities.
Synonyms:exact_synonym: NEDVIBA
 primary_id: MIM:618547


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NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddx23 DEAD-box helicase 23 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with visual defects and brain anomalies ClinVar PMID:25741868 NCBI chr 7:129,797,620...129,814,909
Ensembl chr 7:129,797,614...129,814,949 		JBrowse link
G Hk1 hexokinase 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with visual defects and brain anomalies OMIM
ClinVar		 PMID:11783948 PMID:12211198 PMID:25741868 PMID:28492532 PMID:30778173 More... NCBI chr20:30,230,488...30,332,099
Ensembl chr20:30,230,486...30,332,131 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    sensory system disease 7373
      eye disease 3721
        NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES 2
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      nervous system disease 14355
        central nervous system disease 12628
          brain disease 11845
            disease of mental health 8440
              Neurodevelopmental Disorders 6962
                NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES 2
paths to the root