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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


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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: NABAIS SA-DE VRIES SYNDROME, TYPE 2 | 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 chr10:80,358,121...80,438,983
Ensembl chr10:80,358,124...80,483,955 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Neurodevelopmental Disorders 6848
        Nabais Sa-de Vries Syndrome, Type 2 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            disease of mental health 8321
              Neurodevelopmental Disorders 6848
                Nabais Sa-de Vries Syndrome, Type 2 1
paths to the root