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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: OMIM:612813
For additional species annotation, visit the Alliance of Genome Resources.


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Spondyloepimetaphyseal Dysplasia, Aggrecan Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acan aggrecan ISO ClinVar Annotator: match by OMIM:612813
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Aggrecan type
OMIM
ClinVar
PMID:19110214 PMID:25741868 PMID:30124491 NCBI chr 1:140,762,758...140,824,441
Ensembl chr 1:140,762,758...140,824,441
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    Developmental Disease 10571
      bone development disease 1371
        Spondyloepimetaphyseal Dysplasia, Aggrecan Type 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      Skin and Connective Tissue Diseases 5625
        connective tissue disease 4355
          bone disease 3040
            bone development disease 1371
              Spondyloepimetaphyseal Dysplasia, Aggrecan Type 1
paths to the root