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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 or without Anomalies of the Brain, Eye, or Heart
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Accession:DOID:9004468 term browser browse the term
Definition:An autosomal dominant syndrome characterized by onset in infancy of developmental delay, intellectual disability, and behavioral disorders, such as autism spectrum disorders. (OMIM)
Synonyms:exact_synonym: NEDBEH;   RERE-RELATED CONDITION
 primary_id: MIM:616975
 xref: EFO:0009645


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Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rere arginine-glutamic acid dipeptide repeats ISO DNA:missense mutations, duplications, deletion:CDS:multiple (human)
ClinVar Annotator: match by term: Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | ClinVar Annotator: match by term: RERE-related condition		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26350515 PMID:27087320 More... RGD:329849005 NCBI chr 5:160,765,855...161,097,678
Ensembl chr 5:160,765,934...161,097,677 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    physical disorder 5180
      congenital heart disease 1404
        Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart 1
Path 2
Term Annotations click to browse term
  disease 19099
    Pathological Conditions, Signs and Symptoms 13605
      Signs and Symptoms 11184
        Neurologic Manifestations 10420
          sensory system disease 7331
            eye disease 3696
              Eye Abnormalities 811
                Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart 1
paths to the root