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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:Multisystemic Smooth Muscle Dysfunction Syndrome
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Accession:DOID:9007900 term browser browse the term
Synonyms:exact_synonym: MSMDS;   congenital mydriasis with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy
 primary_id: OMIM:613834


show annotations for term's descendants           Sort by:
Multisystemic Smooth Muscle Dysfunction Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle ISO ClinVar Annotator: match by term: MYDRIASIS, CONGENITAL, WITH PATENT DUCTUS ARTERIOSUS, THORACIC AORTIC ANEURYSM, AND VASCULOPATHY | ClinVar Annotator: match by term: Multisystemic smooth muscle dysfunction syndrome OMIM
ClinVar		 PMID:9536098 PMID:13129918 PMID:15138499 PMID:17576681 PMID:17994018 More... NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554 		JBrowse link
G Fas Fas cell surface death receptor ISO ClinVar Annotator: match by term: Multisystemic smooth muscle dysfunction syndrome ClinVar NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21122
    syndrome 10725
      Multisystemic Smooth Muscle Dysfunction Syndrome 2
Path 2
Term Annotations click to browse term
  disease 21122
    disease of anatomical entity 18162
      nervous system disease 14004
        Neurologic Manifestations 9984
          sensory system disease 6884
            eye disease 3446
              pupil disease 25
                Mydriasis 3
                  Congenital Mydriasis 3
                    Multisystemic Smooth Muscle Dysfunction Syndrome 2
paths to the root