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singleton-Merten dysplasia

Disease Summary
Associated Targets (2)
Tbio

2


GARD Rare
Mondo Description Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).
Mondo Term and Equivalent IDs
MONDO:0008429:  singleton-Merten dysplasia
DC:0000703: 
GARD:0000122: 
MESH:C537343: 
OMIMPS:182250: 
Orphanet:85191: 
SCTID:254114000: 
UMLS:C0432254: