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steroid dehydrogenase deficiency-dental anomalies syndrome

Disease Summary
Associated Targets ()

Mondo Description Steroid dehydrogenase deficiency-dental anomalies syndrome is an autosomal recessive liver disease which was associated with numerical dental aberrations in a consanguineous Arabi Saudi family. This association suggests that the same gene is involved in both defects. General hypomineralisation and enamel hypoplasia found in this family is thought to be secondary to malabsorption due to liver disease.
Mondo Term and Equivalent IDs
MONDO:0017904:  steroid dehydrogenase deficiency-dental anomalies syndrome
GARD:0005015: 
MESH:C537490: 
Orphanet:3196: 
SCTID:723583009: 
UMLS:C2931508: