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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:Mitchell-Riley Syndrome
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Accession:DOID:9007412 term browser browse the term
Synonyms:exact_synonym: MTCHRS;   RFX6-RELATED CONDITION;   neonatal diabetes with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia
 xref: MESH:C567570;   MIM:615710;   MONDO:0017400



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Mitchell-Riley Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rfx6 regulatory factor X, 6 ISO ClinVar Annotator: match by term: Mitchell-Riley syndrome | ClinVar Annotator: match by term: RFX6-related condition
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:15592663 PMID:18414213 PMID:18512226 PMID:19887127 PMID:20148032 More... NCBI chr20:31,019,784...31,073,266 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    syndrome 11370
      Mitchell-Riley Syndrome 1
Path 2
Term Annotations click to browse term
  disease 19139
    Developmental Disease 14664
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13712
        genetic disease 13378
          inherited metabolic disorder 6621
            carbohydrate metabolic disorder 3414
              glucose metabolism disease 2158
                diabetes mellitus 1665
                  Mitchell-Riley Syndrome 1
paths to the root