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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: MED12L-RELATED CONDITION;   NIZIDS
 primary_id: OMIM:618872


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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: MED12L-related condition | 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 18969
    syndrome 10888
      Nizon-Isidor Syndrome 2
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        central nervous system disease 12430
          brain disease 11668
            disease of mental health 8318
              Neurodevelopmental Disorders 6845
                Developmental Disabilities 775
                  Nizon-Isidor Syndrome 2
paths to the root