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ONTOLOGY REPORT - ANNOTATIONS


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;   enteric anendocrinosis
 primary_id: MESH:C563673
 alt_id: OMIM:610370;   RDO:0012870
 xref: ORDO:83620
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congenital malabsorptive diarrhea 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Neurog3 neurogenin 3 JBrowse link 20 31,761,419 31,762,893 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15599
    syndrome 5135
      Malabsorption Syndromes 115
        congenital malabsorptive diarrhea 4 1
Path 2
Term Annotations click to browse term
  disease 15599
    Developmental Diseases 8726
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7507
        genetic disease 6997
          monogenic disease 4558
            autosomal genetic disease 3509
              autosomal recessive disease 1978
                congenital malabsorptive diarrhea 4 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.