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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, Shohat Type
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Accession:DOID:9006563 term browser browse the term
Synonyms:exact_synonym: SEMD, Shohat Type;   SEMDSH
 primary_id: MESH:C566523
 alt_id: OMIM:602557;   RDO:0014855
For additional species annotation, visit the Alliance of Genome Resources.


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Spondyloepimetaphyseal Dysplasia, Shohat Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddrgk1 DDRGK domain containing 1 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia Shohat type ClinVar
OMIM
PMID:8357004 PMID:28263186 NCBI chr 3:123,195,580...123,206,828
Ensembl chr 3:123,195,580...123,206,828
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16158
    Developmental Disease 9628
      bone development disease 1325
        osteochondrodysplasia 446
          spondyloepimetaphyseal dysplasia 77
            Spondyloepimetaphyseal Dysplasia, Shohat Type 1
Path 2
Term Annotations click to browse term
  disease 16158
    disease of anatomical entity 15408
      musculoskeletal system disease 5294
        connective tissue disease 3641
          bone disease 2998
            bone development disease 1325
              osteochondrodysplasia 446
                spondyloepimetaphyseal dysplasia 77
                  Spondyloepimetaphyseal Dysplasia, Shohat Type 1
paths to the root