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Shprintzen-Goldberg syndrome

Disease Summary
Associated Targets (3)
Tbio

3


Explore Associated Targets
Mondo Description Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.
Uniprot Description A very rare syndrome characterized by a marfanoid habitus, craniosynostosis, characteristic dysmorphic facial features, skeletal and cardiovascular abnormalities, mental retardation, developmental delay and learning disabilities.
Mondo Term and Equivalent IDs
MONDO:0008426:  Shprintzen-Goldberg syndrome
GARD:0004861: 
NCIT:C124840: 
Orphanet:2462: 
SCTID:719069008: 
UMLS:C1321551: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)
No novelty measurements found