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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
 alt_id: RDO:0003169
 xref: OMIM:PS182250
For additional species annotation, visit the Alliance of Genome Resources.



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:17576681 PMID:21070929 PMID:24686847 PMID:24995871 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 Ddx58 DEXD/H-box helicase 58 ISO ClinVar Annotator: match by term: Singleton-Merten syndrome 2 ClinVar
OMIM
PMID:25620203 PMID:25741868 PMID:28166811 PMID:28492532 NCBI chr 5:55,321,229...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 17289
    syndrome 8166
      Singleton Merten Syndrome 2
        Singleton-Merten Syndrome 1 1
        Singleton-Merten Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        sensory system disease 5680
          mouth disease 800
            tooth disease 300
              teeth hard tissue disease 69
                dental enamel hypoplasia 61
                  Singleton Merten Syndrome 2
                    Singleton-Merten Syndrome 1 1
                    Singleton-Merten Syndrome 2 1
paths to the root