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Silver-Russell syndrome

Disease Summary
Associated Targets (14)
Tbio

10

Tchem

3

Tclin

1


GARD Rare
Mondo Description Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry.
Uniprot Description A clinically heterogeneous condition characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations. The phenotypic expression changes during childhood and adolescence, with the facial features and asymmetry usually becoming more subtle with age.
Mondo Term and Equivalent IDs
MONDO:0008394:  Silver-Russell syndrome
GARD:0004870: 
MESH:D056730: 
NCIT:C85068: 
OMIMPS:180860: 
Orphanet:813: 
SCTID:15069006: 
UMLS:C0175693: