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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 16023
    Developmental Diseases 9537
      Neurodevelopmental Disorders 4619
        Nabais Sa-de Vries Syndrome, Type 2 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            disease of mental health 6047
              Neurodevelopmental Disorders 4619
                Nabais Sa-de Vries Syndrome, Type 2 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.