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ONTOLOGY REPORT - ANNOTATIONS


Term:microvillus inclusion disease
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Accession:DOID:0060775 term browser browse the term
Definition:A congenital diarrhea characterized by onset of intractable life-threatening watery diarrhea during infancy, lack of microvilli on the surface of enterocytes and occurrence of intracellular vacuolar structures containing microvilli that has_material_basis_in homozygous or compound heterozygous mutation in the MYO5B gene on chromosome 18q21. (DO)
Synonyms:exact_synonym: DIAR2;   Davidson disease;   Diarrhea 2, With Microvillus Atrophy;   MVD;   MVID;   congenital familial protracted diarrhea with enterocyte brush-border abnormalities;   congenital microvillous atrophy;   congenital microvillus atrophy;   diarrhea with microvillus atrophy;   intractable diarrhea of infancy
 primary_id: MESH:C537470
 alt_id: OMIM:251850;   RDO:0003315
 xref: GARD:7039;   ORDO:2290
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microvillus inclusion disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdc42 cell division cycle 42 JBrowse link 5 155,690,267 155,728,385 RGD:13592920
G Myo5b myosin Vb JBrowse link 18 70,426,865 70,729,985 RGD:7240710
RGD:8554872

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Path 1
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  disease 15619
    syndrome 5154
      Malabsorption Syndromes 114
        microvillus inclusion disease 2
Path 2
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  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          inherited metabolic disorder 1864
            lipid metabolism disorder 734
              lipid storage disease 353
                mucolipidosis 10
                  glycoproteinosis 9
                    microvillus inclusion disease 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.