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autosomal recessive omodysplasia

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Autosomal recessive form of omodysplasia.
Uniprot Description A rare autosomal recessive skeletal dysplasia characterized by facial dysmorphism and severe congenital micromelia with shortening and distal tapering of the humeri and femora, to give a club-like appearance. Typical facial features include a prominent forehead, frontal bossing, short nose with a depressed broad bridge, short columella, anteverted nostrils, long philtrum, and small chin.
Mondo Term and Equivalent IDs
MONDO:0009779:  autosomal recessive omodysplasia
GARD:0004076: 
Orphanet:93329: 
SCTID:725166005: 
UMLS:C1850318: