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C syndrome

Disease Summary
Associated Targets (3)
Tbio

2

Tchem

1


Explore Associated Targets
Mondo Description C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.
Uniprot Description A syndrome characterized by trigonocephaly, severe mental retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features, including upslanted palpebral fissures, epicanthal folds, depressed nasal bridge, and low-set, posteriorly rotated ears.
Mondo Term and Equivalent IDs
MONDO:0008893:  C syndrome
DOID:0111581: 
GARD:0005978: 
MESH:C537418: 
OMIM:211750: C SYNDROME
Orphanet:1308: 
SCTID:715409005: 
UMLS:C0796095: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)