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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:Nabais Sa-de Vries Syndrome, Type 2
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Accession:DOID:9004007 term browser browse the term
Synonyms:exact_synonym: NEDMACE;   NSDVS2;   neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies
 primary_id: OMIM:618829
For additional species annotation, visit the Alliance of Genome Resources.


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Nabais Sa-de Vries Syndrome, Type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spop speckle type BTB/POZ protein ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies OMIM
ClinVar
PMID:25741868 PMID:32109420 NCBI chr10:83,231,187...83,311,987
Ensembl chr10:83,231,238...83,311,592
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    Developmental Disease 10589
      Neurodevelopmental Disorders 5572
        Nabais Sa-de Vries Syndrome, Type 2 1
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        central nervous system disease 10208
          brain disease 9580
            disease of mental health 6937
              Neurodevelopmental Disorders 5572
                Nabais Sa-de Vries Syndrome, Type 2 1
paths to the root