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.
A craniosynostosis that is characterized by radiohumeral synostosis present from the perinatal period. (DO)
Synonyms:
exact_synonym:
Antley and Bixler's syndrome; Antley-Bixler syndrome phenotype; POR deficiency; combined partial deficiency of 17-hydroxylase and 21-hydroxylase; multisynostotic osteodysgenesis; multisynostotic osteodysgenesis with fractures; multisynostotic osteodysgenesis with long bone fractures; trapezoidocephaly synostosis syndrome; trapezoidocephaly-synostosis syndromes
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Osteodysgenesis, multisynostotic with fractures DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | ClinVar Annotator: match by term: POR Deficiency