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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:Spondylometaphyseal Dysplasia, Axial
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Accession:DOID:9006983 term browser browse the term
Synonyms:exact_synonym: Axial SMD
 primary_id: MESH:C535795
 alt_id: OMIM:602271
For additional species annotation, visit the Alliance of Genome Resources.


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Spondylometaphyseal Dysplasia, Axial term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap410 cilia and flagella associated protein 410 ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia axial
ClinVar Annotator: match by term: Axial spondylometaphyseal dysplasia
ClinVar
OMIM
PMID:11702989 PMID:20503334 PMID:21910225 PMID:23105016 PMID:25741868 PMID:26167768 PMID:26974433 PMID:27548899 PMID:27596865 PMID:28041643 PMID:28422394 PMID:28492532 NCBI chr20:11,417,428...11,424,301
Ensembl chr20:11,417,429...11,424,324
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      bone development disease 1307
        osteochondrodysplasia 441
          Spondylometaphyseal Dysplasia, Axial 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      Skin and Connective Tissue Diseases 5431
        connective tissue disease 4137
          bone disease 3507
            bone development disease 1307
              osteochondrodysplasia 441
                Spondylometaphyseal Dysplasia, Axial 1
paths to the root