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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;   RDO:0001442
 alt_id: OMIM:604308
For additional species annotation, visit the Alliance of Genome Resources.



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 NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by OMIM:604308
ClinVar Annotator: match by term: MASS syndrome
ClinVar Annotator: match by term: Overlap connective tissue disease
OMIM
ClinVar
PMID:1569206 PMID:2005308 PMID:2739055 PMID:3495735 PMID:4750422 More... NCBI chr 3:112,554,257...112,750,835
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 17289
    syndrome 8166
      MASS Syndrome 2
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      cardiovascular system disease 4526
        heart disease 2702
          heart valve disease 391
            Heart Valve Prolapse 18
              mitral valve prolapse 18
                MASS Syndrome 2
paths to the root