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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 1
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Accession:DOID:9003885 term browser browse the term
Definition:Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the IFIH1 gene. (MONDO)
Synonyms:exact_synonym: SGMRT1
 primary_id: OMIM:182250
 xref: MONDO:0024535


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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 2:62,426,137...62,476,599
Ensembl chr 2:62,426,142...62,476,599 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16121
    syndrome 10387
      Singleton Merten Syndrome 2
        Singleton-Merten Syndrome 1 1
Path 2
Term Annotations click to browse term
  disease 16121
    disease of anatomical entity 15680
      nervous system disease 13560
        Neurologic Manifestations 9852
          sensory system disease 6828
            mouth disease 1008
              tooth disease 443
                teeth hard tissue disease 114
                  dental enamel hypoplasia 105
                    Singleton Merten Syndrome 2
                      Singleton-Merten Syndrome 1 1
paths to the root