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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:calvarial doughnut lesions with bone fragility
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Accession:DOID:0080721 term browser browse the term
Definition:An osteochondrodysplasia that is characterized by low bone mineral density, multiple spinal and peripheral fractures beginning in childhood, and sclerotic doughnut-shaped lesions in the cranial bones. (DO)
Synonyms:exact_synonym: CDL;   familial doughnut lesions of skull
 narrow_synonym: CALVARIAL DOUGHNUT LESIONS WITH BONE FRAGILITY AND SPONDYLOMETAPHYSEAL DYSPLASIA
 primary_id: MESH:C565089
 alt_id: OMIM:126550
 xref: ORDO:85192
For additional species annotation, visit the Alliance of Genome Resources.


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calvarial doughnut lesions with bone fragility term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sgms2 sphingomyelin synthase 2 ISO ClinVar Annotator: match by term: Doughnut lesions of skull, familial
ClinVar Annotator: match by term: CALVARIAL DOUGHNUT LESIONS WITH BONE FRAGILITY AND SPONDYLOMETAPHYSEAL DYSPLASIA
ClinVar
OMIM
PMID:19839042 PMID:30779713 NCBI chr 2:236,458,276...236,530,667
Ensembl chr 2:236,458,279...236,480,502
JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: CDL ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr  X:21,710,976...21,755,708
Ensembl chr  X:21,711,019...21,755,525
JBrowse link
G Smc3 structural maintenance of chromosomes 3 ISO ClinVar Annotator: match by term: CDL ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 1:274,310,120...274,352,856
Ensembl chr 1:274,309,758...274,352,854
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      bone development disease 1307
        osteochondrodysplasia 441
          calvarial doughnut lesions with bone fragility 3
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
                calvarial doughnut lesions with bone fragility 3
paths to the root