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Schinzel-Giedion syndrome

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies.
Uniprot Description A disorder characterized by severe mental retardation, distinctive facial features, and multiple congenital malformations including skeletal abnormalities, genitourinary and renal malformations, cardiac defects, as well as a higher-than-normal prevalence of tumors, notably neuroepithelial neoplasia.
Mondo Term and Equivalent IDs
MONDO:0010010:  Schinzel-Giedion syndrome
GARD:0000117: 
MESH:C536632: 
NCIT:C129308: 
Orphanet:798: 
SCTID:18899000: 
UMLS:C0265227: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found