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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 PMID:35296718 NCBI chr12:40,726,137...40,757,690 JBrowse link
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: MASS syndrome | ClinVar Annotator: match by term: Overlap connective tissue disease OMIM
ClinVar		 PMID:627879 PMID:948948 PMID:1569206 PMID:2005308 PMID:2254511 More... NCBI chr15:27,358,780...27,593,539
Ensembl chr15:45,682,450...45,918,111 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15685
    syndrome 10220
      MASS Syndrome 2
Path 2
Term Annotations click to browse term
  disease 15685
    disease of anatomical entity 15296
      nervous system disease 13321
        Neurologic Manifestations 9655
          sensory system disease 6646
            eye disease 3391
              refractive error 232
                myopia 177
                  MASS Syndrome 2
paths to the root