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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: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;   MVD;   MVID;   congenital familial protracted diarrhea with enterocyte brush-border abnormalities;   congenital microvillous atrophy;   congenital microvillus atrophy;   diarrhea 2 with microvillus atrophy;   diarrhea with microvillus atrophy;   intractable diarrhea of infancy
 primary_id: MESH:C537470
 alt_id: OMIM:251850
 xref: GARD:7039;   ORDO:2290
For additional species annotation, visit the Alliance of Genome Resources.


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microvillus inclusion disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc42 cell division cycle 42 ISS OMIM:251850 MouseDO NCBI chr 5:155,690,267...155,728,385
Ensembl chr 5:155,691,390...155,728,300
JBrowse link
G Myo5b myosin Vb ISO ClinVar Annotator: match by OMIM:251850
ClinVar Annotator: match by term: Diarrhea with Microvillus Atrophy
ClinVar Annotator: match by term: Congenital microvillous atrophy
OMIM
ClinVar
PMID:18724368, PMID:19006234, PMID:20186687, PMID:21206382, PMID:24014347, PMID:24033266, PMID:25111220, PMID:25741868, PMID:27242896, PMID:28492532, PMID:29266534 NCBI chr18:70,426,865...70,729,985
Ensembl chr18:70,427,007...70,729,030
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    syndrome 6993
      Malabsorption Syndromes 118
        microvillus inclusion disease 2
Path 2
Term Annotations click to browse term
  disease 16096
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          inherited metabolic disorder 2222
            lipid metabolism disorder 900
              lipid storage disease 467
                mucolipidosis 9
                  glycoproteinosis 8
                    microvillus inclusion disease 2
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.