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AREDYLD syndrome

Disease Summary
Associated Targets ()

Mondo Description AREDYLD stands for acral-renal-ectodermal-dysplasia-lipoatrophic-diabetes. This syndrome has been described in three individuals, one of whom was born to consanguineous parents. All patients had lipoatrophy, diabetes mellitus, generalized hypotrichosis, ectodermal dysplasia, renal alterations, dental abnormalities and other manifestations. It is probably transmitted as an autosomal recessive trait.
Mondo Term and Equivalent IDs
MONDO:0008812:  AREDYLD syndrome
GARD:0008509: 
MESH:C537427: 
OMIM:207780: AREDYLD
Orphanet:1133: 
SCTID:237610008: 
UMLS:C0342280: