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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: BMPER-RELATED CONDITION;   defect in vertebral ossification with nephrogenic rests
 primary_id: MESH:C564305
 alt_id: MIM:608022


show annotations for term's descendants           Sort by:
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 term: BMPER-related condition | ClinVar Annotator: match by term: Diaphanospondylodysostosis
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:20869035 PMID:21990102 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 8:21,732,225...21,977,261
Ensembl chr 8:21,732,225...21,977,256 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    Developmental Disease 14663
      bone development disease 2385
        dysostosis 637
          Diaphanospondylodysostosis 1
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      Skin and Connective Tissue Diseases 7769
        connective tissue disease 5917
          bone disease 4362
            bone development disease 2385
              dysostosis 637
                Diaphanospondylodysostosis 1
paths to the root