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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:Nizon-Isidor Syndrome
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Accession:DOID:9000668 term browser browse the term
Synonyms:exact_synonym: NIZIDS
 primary_id: OMIM:618872
For additional species annotation, visit the Alliance of Genome Resources.



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Nizon-Isidor Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med12l mediator complex subunit 12L ISO ClinVar Annotator: match by term: Nizon-Isidor syndrome OMIM
ClinVar
PMID:25741868 PMID:31155615 NCBI chr 2:143,253,048...143,576,507
Ensembl chr 2:143,252,139...143,573,741
JBrowse link
G P2ry12 purinergic receptor P2Y12 ISO ClinVar Annotator: match by term: Nizon-Isidor syndrome ClinVar PMID:25741868 PMID:31155615 NCBI chr 2:143,481,468...143,523,340
Ensembl chr 2:143,481,430...143,523,361
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    syndrome 9691
      Nizon-Isidor Syndrome 2
Path 2
Term Annotations click to browse term
  disease 18145
    disease of anatomical entity 17519
      nervous system disease 13182
        central nervous system disease 11306
          brain disease 10593
            disease of mental health 7503
              Neurodevelopmental Disorders 6154
                Developmental Disabilities 660
                  Nizon-Isidor Syndrome 2
paths to the root