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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:Spondyloepimetaphyseal Dysplasia, Aggrecan Type
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Accession:DOID:9001088 term browser browse the term
Synonyms:exact_synonym: SEMD, Aggrecan Type;   SEMDAG
 primary_id: MESH:C567558;   RDO:0015607
 alt_id: MIM:612813


show annotations for term's descendants           Sort by:
Spondyloepimetaphyseal Dysplasia, Aggrecan Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acan aggrecan ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, aggrecan type		 OMIM
CTD
ClinVar		 PMID:11942407 PMID:19110214 PMID:25741868 PMID:28492532 PMID:30124491 More... NCBI chr 1:132,981,582...133,044,416
Ensembl chr 1:132,981,582...133,043,627 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    Developmental Disease 14663
      bone development disease 2385
        Spondyloepimetaphyseal Dysplasia, Aggrecan Type 1
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      Skin and Connective Tissue Diseases 7769
        connective tissue disease 5917
          bone disease 4362
            bone development disease 2385
              Spondyloepimetaphyseal Dysplasia, Aggrecan Type 1
paths to the root