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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 Structural Brain Anomalies and Dysmorphic Facies
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Accession:DOID:9002267 term browser browse the term
Synonyms:exact_synonym: NEDBAF
 primary_id: OMIM:618577
 xref: EFO:0010563


show annotations for term's descendants           Sort by:
Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAC3 Rac family small GTPase 3 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies OMIM
ClinVar		 PMID:25741868 PMID:29276006 PMID:30293988 PMID:35851598 PMID:38214746 NCBI chr17:76,436,264...76,439,492
Ensembl chr17:82,133,217...82,143,623 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      Neurodevelopmental Disorders 6850
        Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        central nervous system disease 11923
          brain disease 11204
            disease of mental health 8111
              Neurodevelopmental Disorders 6850
                Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies 1
paths to the root