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Robinow syndrome

Disease Summary
Associated Targets (9)
Tbio

7

Tchem

2


GARD Rare
Mondo Description Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia.
Disease Ontology Description A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities.
Mondo Term and Equivalent IDs
MONDO:0019978:  Robinow syndrome
GARD:0000312: 
NCIT:C85048: 
OMIMPS:268310: 
Orphanet:97360: 
UMLS:C0265205: 
UMLS:CN776872: