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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:Spondyloepiphyseal Dysplasia, Nishimura Type
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Accession:DOID:9007564 term browser browse the term
Synonyms:exact_synonym: SEDN
 primary_id: OMIM:618618
For additional species annotation, visit the Alliance of Genome Resources.


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Spondyloepiphyseal Dysplasia, Nishimura Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir140 microRNA 140 ISO ClinVar Annotator: match by term: SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE OMIM
ClinVar
PMID:30804514 NCBI chr19:39,608,951...39,609,049
Ensembl chr19:39,608,951...39,609,049
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      bone development disease 1330
        osteochondrodysplasia 435
          Spondyloepiphyseal Dysplasia, Nishimura Type 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      Skin and Connective Tissue Diseases 5474
        connective tissue disease 4073
          bone disease 3528
            bone development disease 1330
              osteochondrodysplasia 435
                Spondyloepiphyseal Dysplasia, Nishimura Type 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.