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RGD uses the Human Disease Ontology (DO, 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;   neonatal diabetes with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia
 primary_id: MESH:C567570
 alt_id: OMIM:615710
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
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 OMIM:615710
ClinVar Annotator: match by term: Mitchell-Riley syndrome
PMID:15592663 PMID:18414213 PMID:18512226 PMID:19887127 PMID:20148032 More... NCBI chr20:31,020,221...31,073,266
Ensembl chr20:31,019,829...31,073,147
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    syndrome 8262
      Mitchell-Riley Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17435
    Nutritional and Metabolic Diseases 5591
      disease of metabolism 5591
        acquired metabolic disease 2907
          carbohydrate metabolism disease 1802
            glucose metabolism disease 1802
              diabetes mellitus 1409
                Mitchell-Riley Syndrome 1
paths to the root