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CHARGE syndrome

Disease Summary
Associated Targets (2)
Tbio

2


Explore Associated Targets
Mondo Description CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).
Uniprot Description Common cause of congenital anomalies. Is characterized by a non-random pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina.
Disease Ontology Description A syndrome that is acterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina.
Mondo Term and Equivalent IDs
MONDO:0008965:  CHARGE syndrome
GARD:0000029: 
MESH:D058747: 
NCIT:C75100: 
Orphanet:138: 
SCTID:47535005: 
UMLS:C0265354: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)