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Meckel syndrome

Disease Summary
Associated Targets (19)
Tbio

19


Explore Associated Targets
Mondo Description Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.
Disease Ontology Description A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia.
Mondo Term and Equivalent IDs
MONDO:0018921:  Meckel syndrome
GARD:0003436: 
NCIT:C98978: 
OMIMPS:249000: 
Orphanet:564: 
SCTID:29076005: 
UMLS:C0265215: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)