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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:Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
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Accession:DOID:9000719 term browser browse the term
Synonyms:exact_synonym: MMIHS1
 primary_id: MIM:249210


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Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 OMIM
ClinVar		 PMID:9536098 PMID:11029314 PMID:16399953 PMID:17576681 PMID:21055718 More... NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    syndrome 11372
      megacystis-microcolon-intestinal hypoperistalsis syndrome 7
        Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 1
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      gastrointestinal system disease 7187
        intestinal disease 3108
          intestinal obstruction 220
            ileus 32
              intestinal pseudo-obstruction 24
                Familial Visceral Myopathy 9
                  megacystis-microcolon-intestinal hypoperistalsis syndrome 7
                    Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 1
paths to the root