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congenital malabsorptive diarrhea 4 - Ontology Report - Rat Genome Database

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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:congenital malabsorptive diarrhea 4
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Accession:DOID:0060779 term browser browse the term
Definition:A congenital diarrhea characterized by chronic unremitting malabsorptive diarrhea and a profound dysgenesis of the enteroendocrine cells that has_material_basis_in mutation in the gene encoding neurogenin-3 (NEUROG3) on chromosome 10q21.3. (DO)
Synonyms:exact_synonym: DIAR4;   congenital malabsorptive diarrhea 4 with diabetes mellitus and combined pituitary hormone deficiency;   congenital malabsorptive diarrhea due to paucity of enteroendocrine cells;   congenital malabsorptive diarrhoea 4;   congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells;   enteric anendocrinosis
 xref: MESH:C563673;   MIM:610370;   MONDO:0012479;   ORDO:83620

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congenital malabsorptive diarrhea 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Neurog3 neurogenin 3 ISO ClinVar Annotator: match by term: Congenital malabsorptive diarrhea 4 | ClinVar Annotator: match by term: ENTERIC ANENDOCRINOSIS OMIM
ClinVar		 PMID:16855267 PMID:24033266 PMID:25741868 PMID:26541772 PMID:28492532 More... NCBI chrNW_004955437:21,577,896...21,578,546 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14338
    syndrome 9847
      Malabsorption Syndromes 189
        congenital malabsorptive diarrhea 4 1
Path 2
Term Annotations click to browse term
  disease 14338
    Developmental Disease 12614
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11878
        genetic disease 11608
          monogenic disease 9985
            autosomal genetic disease 9590
              autosomal recessive disease 6649
                congenital malabsorptive diarrhea 4 1
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