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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
 xref: 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16855267 PMID:24033266 PMID:25741868 PMID:26541772 PMID:28492532 More... NCBI chr20:30,079,780...30,081,262
Ensembl chr20:30,079,780...30,081,262 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    syndrome 10839
      Malabsorption Syndromes 214
        congenital malabsorptive diarrhea 4 1
Path 2
Term Annotations click to browse term
  disease 21126
    Developmental Disease 18447
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18306
        genetic disease 18250
          monogenic disease 10365
            autosomal genetic disease 9518
              autosomal recessive disease 6585
                congenital malabsorptive diarrhea 4 1
paths to the root