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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

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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 OMIM
ClinVar		 PMID:8357004 PMID:25741868 PMID:28263186 PMID:28492532 NCBI chrNW_004936485:15,516,348...15,526,380
Ensembl chrNW_004936485:15,516,302...15,526,376 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      bone development disease 2182
        osteochondrodysplasia 832
          spondyloepimetaphyseal dysplasia 85
            Spondyloepimetaphyseal Dysplasia, Shohat Type 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      musculoskeletal system disease 7378
        connective tissue disease 5008
          bone disease 3672
            bone development disease 2182
              osteochondrodysplasia 832
                spondyloepimetaphyseal dysplasia 85
                  Spondyloepimetaphyseal Dysplasia, Shohat Type 1
paths to the root