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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:Diaphanospondylodysostosis
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Accession:DOID:9000836 term browser browse the term
Synonyms:exact_synonym: defect in vertebral ossification with nephrogenic rests
 primary_id: MESH:C564305
 alt_id: OMIM:608022
For additional species annotation, visit the Alliance of Genome Resources.


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Diaphanospondylodysostosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmper BMP-binding endothelial regulator ISO ClinVar Annotator: match by OMIM:608022
ClinVar Annotator: match by term: Diaphanospondylodysostosis
OMIM
ClinVar
PMID:20869035 PMID:21990102 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30006055 NCBI chr 8:24,369,916...24,615,484
Ensembl chr 8:24,369,916...24,615,479
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16977
    Developmental Disease 10670
      bone development disease 1380
        dysostosis 380
          Diaphanospondylodysostosis 1
Path 2
Term Annotations click to browse term
  disease 16977
    disease of anatomical entity 16343
      Skin and Connective Tissue Diseases 5682
        connective tissue disease 4374
          bone disease 3055
            bone development disease 1380
              dysostosis 380
                Diaphanospondylodysostosis 1
paths to the root