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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: CALVARIAL DOUGHNUT LESIONS WITH BONE FRAGILITY WITH OR WITHOUT SPONDYLOMETAPHYSEAL DYSPLASIA;   CDL;   SGMS2-RELATED CONDITION;   familial doughnut lesions of skull
 narrow_synonym: CALVARIAL DOUGHNUT LESIONS WITH BONE FRAGILITY AND SPONDYLOMETAPHYSEAL DYSPLASIA
 primary_id: MESH:C565089
 alt_id: MIM:126550
 xref: ORDO:85192

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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: Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia | ClinVar Annotator: match by term: Doughnut lesions of skull, familial | ClinVar Annotator: match by term: SGMS2-related condition OMIM
ClinVar		 PMID:19839042 PMID:25741868 PMID:28492532 PMID:30779713 PMID:32028018 NCBI chr 7:55,752,419...55,843,408
Ensembl chr 7:55,753,270...55,838,914 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: CDL ClinVar PMID:18414213 NCBI chr  X:49,514,652...49,558,490
Ensembl chr  X:49,515,061...49,558,447 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15416
    Developmental Disease 13504
      bone development disease 2326
        osteochondrodysplasia 877
          calvarial doughnut lesions with bone fragility 2
Path 2
Term Annotations click to browse term
  disease 15416
    disease of anatomical entity 15079
      musculoskeletal system disease 7844
        connective tissue disease 5363
          bone disease 3869
            bone development disease 2326
              osteochondrodysplasia 877
                calvarial doughnut lesions with bone fragility 2
paths to the root