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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: MIM:601346


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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 chr20:31,019,784...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 19099
    syndrome 11270
      Martinez-Frias Syndrome 1
Path 2
Term Annotations click to browse term
  disease 19099
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13610
        genetic disease 13271
          inherited metabolic disorder 6602
            carbohydrate metabolic disorder 3407
              glucose metabolism disease 2155
                diabetes mellitus 1660
                  Martinez-Frias Syndrome 1
paths to the root