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.
An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull. (DO)
Synonyms:
exact_synonym:
CCD; CLCD1; Marie Sainton syndrome; Marie-Sainton disease; Scheuthauer Marie Sainton syndrome; cleidocranial digital dysostoses; cleidocranial digital dysostosis; cleidocranial dysostoses; cleidocranial dysostosis; cleidocranial dysplasia 1; cleidocranial dysplasias
narrow_synonym:
CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE; LARGE FONTANELLES; cleidocranial dysplasia 1, forme fruste, dental anomalies only; cleidocranial dysplasia 1, forme fruste, with brachydactyly; severe cleidocranial dysplasia with osteoporosis and scoliosis
DNA:insertion, point mutation:exon:p.W283X (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CLEIDOCRANIAL DYSPLASIA 1 | ClinVar Annotator: match by term: Cleidocranial dysostosis | ClinVar Annotator: match by term: Cleidocranial dysplasia 1, forme fruste, dental anomalies only | ClinVar Annotator: match by term: Cleidocranial dysplasia 1, forme fruste, with brachydactyly OMIM:119600 | OMIM:216330
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