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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:Singleton Merten Syndrome
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Accession:DOID:9007304 term browser browse the term
Synonyms:primary_id: MESH:C537343
 xref: MIM:PS182250


show annotations for term's descendants           Sort by:
Singleton Merten Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifih1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456 		JBrowse link
Singleton-Merten Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifih1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Singleton-Merten syndrome 1 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21070929 PMID:24686847 More... NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456 		JBrowse link
Singleton-Merten Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rig1 RNA sensor RIG-1 ISO ClinVar Annotator: match by term: Singleton-Merten syndrome 2 OMIM
ClinVar		 PMID:25620203 PMID:25741868 PMID:28180316 PMID:28492532 NCBI chr 5:55,321,351...55,369,947
Ensembl chr 5:55,321,235...55,370,819 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19055
    syndrome 11175
      Singleton Merten Syndrome 2
        Singleton-Merten Syndrome 1 1
        Singleton-Merten Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 19055
    disease of anatomical entity 18391
      nervous system disease 14264
        Neurologic Manifestations 10337
          sensory system disease 7249
            mouth disease 1032
              tooth disease 460
                teeth hard tissue disease 119
                  dental enamel hypoplasia 110
                    Singleton Merten Syndrome 2
                      Singleton-Merten Syndrome 1 1
                      Singleton-Merten Syndrome 2 1
paths to the root