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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:Cleidocranial Dysplasia 2
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Accession:DOID:9006628 term browser browse the term
Definition:A disease characterized by clavicular anomalies, ranging from unilateral 'clavicula bipartita' to bilateral clavicular aplasia, and dental anomalies, including delayed or absent eruption of deciduous teeth and supernumerary teeth. Caused by heterozygous mutation in the CBFB gene on chromosome 16q22.
Synonyms:exact_synonym: CCD2;   CLCD2
 primary_id: MIM:620099


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Cleidocranial Dysplasia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbfb core-binding factor subunit beta ISO ClinVar Annotator: match by term: Cleidocranial dysplasia 2 OMIM
ClinVar		 PMID:25741868 PMID:36241386 NCBI chr19:33,049,162...33,092,752
Ensembl chr19:33,049,172...33,092,751 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    Developmental Disease 14663
      bone development disease 2385
        osteochondrodysplasia 881
          Cleidocranial Dysplasia 2 1
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      musculoskeletal system disease 8463
        connective tissue disease 5917
          bone disease 4362
            bone development disease 2385
              osteochondrodysplasia 881
                Cleidocranial Dysplasia 2 1
paths to the root