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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.


show annotations for term's descendants           Sort by:
 
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 ClinVar
OMIM
PMID:31155615 NCBI chr 2:149,213,134...149,316,569
Ensembl chr 2:149,213,134...149,532,292
JBrowse link
G P2ry12 purinergic receptor P2Y12 ISO ClinVar Annotator: match by term: NIZON-ISIDOR SYNDROME ClinVar PMID:31155615 NCBI chr 2:149,440,807...149,482,592
Ensembl chr 2:149,441,598...149,444,548
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17150
    syndrome 8039
      Nizon-Isidor Syndrome 2
Path 2
Term Annotations click to browse term
  disease 17150
    disease of anatomical entity 16494
      nervous system disease 12094
        central nervous system disease 10374
          brain disease 9730
            disease of mental health 7036
              Neurodevelopmental Disorders 5684
                Developmental Disabilities 556
                  Nizon-Isidor Syndrome 2
paths to the root