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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:Martinez-Frias Syndrome
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Accession:DOID:9006077 term browser browse the term
Synonyms:exact_synonym: Diabetes, Neonatal, with Pancreatic Hypoplasia, Intestinal Atresia, and Gallbladder Aplasia or Hypoplasia;   Pancreatic Hypoplasia, Intestinal Atresia, and Gallbladder Aplasia or Hypoplasia, with or without Tracheoesophageal Fistula
 primary_id: MESH:C563346
 alt_id: OMIM:601346
For additional species annotation, visit the Alliance of Genome Resources.



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Martinez-Frias 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: DIABETES, NEONATAL, WITH PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA, AND GALLBLADDER APLASIA OR HYPOPLASIA ClinVar 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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18110
    syndrome 9625
      Martinez-Frias Syndrome 1
Path 2
Term Annotations click to browse term
  disease 18110
    Developmental Disease 12861
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11545
        genetic disease 11079
          inherited metabolic disorder 4660
            carbohydrate metabolic disorder 2561
              glucose metabolism disease 1874
                diabetes 1479
                  diabetes mellitus 1462
                    Martinez-Frias Syndrome 1
paths to the root