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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:autosomal dominant craniodiaphyseal dysplasia
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Accession:DOID:0080807 term browser browse the term
Definition:A craniodiaphyseal dysplasia that has_material_basis_in heterozygous mutation in the SOST gene on chromosome 17q21. (DO)
Synonyms:exact_synonym: CDD
 broad_synonym: SOST-RELATED CONDITION
 primary_id: MESH:C567275
 alt_id: OMIM:122860


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autosomal dominant craniodiaphyseal dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sost sclerostin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Craniodiaphyseal dysplasia, autosomal dominant		 OMIM
CTD
ClinVar		 PMID:17853455 PMID:21221996 PMID:25741868 NCBI chr10:86,912,517...86,915,561
Ensembl chr10:86,911,517...86,915,561 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      bone development disease 2304
        osteochondrodysplasia 860
          osteosclerosis 59
            craniodiaphyseal dysplasia 3
              autosomal dominant craniodiaphyseal dysplasia 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      musculoskeletal system disease 8272
        connective tissue disease 5757
          bone disease 4270
            bone development disease 2304
              osteochondrodysplasia 860
                osteosclerosis 59
                  craniodiaphyseal dysplasia 3
                    autosomal dominant craniodiaphyseal dysplasia 1
paths to the root