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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: OMIM:604308



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 NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: MASS syndrome | ClinVar Annotator: match by term: Overlap connective tissue disease
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1569206 PMID:2005308 PMID:2739055 PMID:7802039 PMID:7870075 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 21147
    syndrome 10752
      MASS Syndrome 2
Path 2
Term Annotations click to browse term
  disease 21147
    disease of anatomical entity 18195
      nervous system disease 14024
        Neurologic Manifestations 9997
          sensory system disease 6894
            eye disease 3451
              refractive error 224
                myopia 181
                  MASS Syndrome 2
paths to the root