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Ontology Term : Meckel syndrome UniProtKeyword

description  Protein 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:
  • Gruber syndrome,
  • Dysencephalia splanchnocystica,
  • MKS,
  • Meckel-Gruber syndrome
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