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mammary-digital-nail syndrome

Disease Summary
Associated Targets ()

Mondo Description Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females.
Mondo Term and Equivalent IDs
MONDO:0013368:  mammary-digital-nail syndrome
Orphanet:238744: 
SCTID:718679004: 
UMLS:C3150946: