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Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description A disease characterized by the association of Antley-Bixler syndrome with steroidogenesis defects and abnormal genitalia. Antley-Bixler syndrome is characterized by craniosynostosis, radiohumeral synostosis present from the perinatal period, midface hypoplasia, choanal stenosis or atresia, femoral bowing and multiple joint contractures.
Mondo Term and Equivalent IDs
MONDO:0008726:  Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
Orphanet:63269: 
UMLS:C3150099: