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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 2
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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

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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 chrNW_004936581:2,944,230...2,976,957
Ensembl chrNW_004936581:2,941,953...2,971,405 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14568
    syndrome 9815
      Malabsorption Syndromes 188
        Microvillus Inclusion Disease 2 1
Path 2
Term Annotations click to browse term
  disease 14568
    Developmental Disease 12727
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11934
        genetic disease 11652
          monogenic disease 9921
            autosomal genetic disease 9218
              autosomal recessive disease 6513
                Microvillus Inclusion Disease 2 1
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