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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 due to paucity of enteroendocrine cells;   congenital malabsorptive diarrhoea 4;   congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells;   enteric anendocrinosis
 primary_id: MESH:C563673
 alt_id: OMIM:610370;   RDO:0012870
 xref: ORDO:83620
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:610370
ClinVar Annotator: match by term: Diarrhea 4, malabsorptive, congenital
OMIM
ClinVar
PMID:16855267, PMID:25741868 NCBI chr20:31,761,419...31,762,893
Ensembl chr20:31,761,405...31,762,893
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    syndrome 6993
      Malabsorption Syndromes 118
        congenital malabsorptive diarrhea 4 1
Path 2
Term Annotations click to browse term
  disease 16096
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5628
            autosomal genetic disease 4631
              autosomal recessive disease 2512
                congenital malabsorptive diarrhea 4 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.