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Keyword Meckel syndrome

UniProtKB (4) rdf/xml obo
DefinitionProtein which, if defective, causes Meckel syndrome, an autosomal recessive disorder characterized by a combination of renal cysts and variably associated features, including developmental anomalies of the central nervous system (usually occipital encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.
Synonyms Dysencephalia splanchnocystica
Gruber syndrome
Meckel-Gruber syndrome
MKS
CategoryDisease