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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 1
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Accession:DOID:9001256 term browser browse the term
Synonyms:exact_synonym: NEDMIDF;   NSDVS1;   neurodevelopmental disorder with microcephaly and dysmorphic facies
 primary_id: OMIM:618828


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Nabais Sa-de Vries Syndrome, Type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPOP speckle type BTB/POZ protein IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and dysmorphic facies OMIM
ClinVar		 PMID:25741868 PMID:32109420 NCBI chr17:49,598,884...49,678,163
Ensembl chr17:49,598,884...49,678,163 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Neurodevelopmental Disorders 13563
        Nabais Sa-de Vries Syndrome, Type 1 1
Path 2
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33606
        genetic disease 33187
          monogenic disease 18511
            autosomal genetic disease 16781
              autosomal dominant disease 10884
                complex cortical dysplasia with other brain malformations 2173
                  Malformations of Cortical Development, Group I 1862
                    microcephaly 1521
                      Nabais Sa-de Vries Syndrome, Type 1 1
paths to the root