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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;   MVID1;   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;   microvillus inclusion disease 1
 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 5:149,555,069...149,593,239
Ensembl chr 5:149,553,724...149,593,111
JBrowse link
G Myo5b myosin Vb ISO ClinVar Annotator: match by term: Congenital microvillous atrophy | ClinVar Annotator: match by term: Diarrhea with Microvillus Atrophy OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18724368 PMID:19006234 PMID:20186687 More... NCBI chr18:68,038,759...68,341,568
Ensembl chr18:68,038,759...68,338,745
JBrowse link
Retinal Dystrophy and Microvillus Inclusion Disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stx3 syntaxin 3 ISO ClinVar Annotator: match by term: RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE OMIM
ClinVar
NCBI chr 1:208,617,018...208,686,240
Ensembl chr 1:208,639,115...208,685,805
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    physical disorder 4194
      congenital diarrhea 12
        microvillus inclusion disease 3
          Retinal Dystrophy and Microvillus Inclusion Disease 1
Path 2
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        genetic disease 11174
          inherited metabolic disorder 4673
            lysosomal storage disease 815
              lipid storage disease 653
                mucolipidosis 10
                  glycoproteinosis 9
                    microvillus inclusion disease 3
                      Retinal Dystrophy and Microvillus Inclusion Disease 1
paths to the root