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MASS Syndrome - Ontology Report - Rat Genome Database

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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:MASS Syndrome
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Accession:DOID:9007706 term browser browse the term
Synonyms:exact_synonym: Mass phenotype;   OCTD;   Overlap connective tissue disease
 primary_id: MESH:C536030
 alt_id: MIM:604308

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show annotations for term's descendants           Sort by:
MASS Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: MASS syndrome ClinVar PMID:25741868 PMID:28492532 PMID:35296718 NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
G Fbn1 fibrillin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MASS PHENOTYPE | ClinVar Annotator: match by term: MASS syndrome | ClinVar Annotator: match by term: OVERLAP CONNECTIVE TISSUE DISEASE | ClinVar Annotator: match by term: Overlap connective tissue disease		 OMIM
CTD
ClinVar		 PMID:627879 PMID:948948 PMID:1569206 PMID:2005308 PMID:2254511 More... NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    syndrome 11403
      MASS Syndrome 2
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      respiratory system disease 5243
        thoracic disease 4046
          heart disease 3473
            heart valve disease 542
              mitral valve disease 25
                mitral valve prolapse 18
                  MASS Syndrome 2
paths to the root