Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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 2
go back to main search page
Accession:DOID:9006044 term browser browse the term
Definition:A congenital enteropathy characterized by neonatal-onset intractable secretory diarrhea, resulting in severe dehydration and metabolic acidosis. Caused by homozygous mutation in the STX3 gene on chromosome 11q12. (OMIM)
Synonyms:exact_synonym: DIAR12;   MVID2;   diarrhea 12 with microvillus atrophy
 primary_id: MIM:619445


show annotations for term's descendants           Sort by:
Microvillus Inclusion Disease 2 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: Diarrhea 12, with microvillus atrophy OMIM
ClinVar		 PMID:24726755 PMID:28492532 PMID:29282386 NCBI chr21:50,298,040...50,322,773
Ensembl chr21:50,298,158...50,318,663 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15673
    syndrome 10406
      Malabsorption Syndromes 206
        Microvillus Inclusion Disease 2 1
Path 2
Term Annotations click to browse term
  disease 15673
    Developmental Disease 13615
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12660
        genetic disease 12355
          monogenic disease 10466
            autosomal genetic disease 9688
              autosomal recessive disease 6779
                Microvillus Inclusion Disease 2 1
paths to the root