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Meckel syndrome, type 3

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM67 gene.
Uniprot Description A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.
Mondo Term and Equivalent IDs
MONDO:0011821:  Meckel syndrome, type 3
GARD:0008744: 
MESH:C536132: 
UMLS:C1846357: