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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 16085
    syndrome 7041
      Malabsorption Syndromes 119
        microvillus inclusion disease 2
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          inherited metabolic disorder 2255
            lipid metabolism disorder 908
              lipid storage disease 464
                mucolipidosis 9
                  glycoproteinosis 8
                    microvillus inclusion disease 2
paths to the root