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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
 primary_id: MESH:C567275
 alt_id: OMIM:122860
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by OMIM:122860 OMIM
ClinVar
PMID:17853455 PMID:21221996 NCBI chr10:89,897,087...89,900,131
Ensembl chr10:89,897,087...89,900,131
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      bone development disease 1344
        osteochondrodysplasia 449
          osteosclerosis 42
            craniodiaphyseal dysplasia 1
              autosomal dominant craniodiaphyseal dysplasia 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      musculoskeletal system disease 5799
        connective tissue disease 4166
          bone disease 3538
            bone development disease 1344
              osteochondrodysplasia 449
                osteosclerosis 42
                  craniodiaphyseal dysplasia 1
                    autosomal dominant craniodiaphyseal dysplasia 1
paths to the root