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C syndrome
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Canavan disease
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cardiofaciocutaneous syndrome
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Carney complex
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Carney triad
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cartilage-hair hypoplasia
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caudal dysplasia
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caudal dysplasia with lumbosacral agenesis
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CD36 deficiency
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CDAGS syndrome
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CEDNIK syndrome
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cellular patterning
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cerebrooculofacioskeletal syndrome type 4
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cerebrooculogacioskeletal syndrome
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CHARGE association
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CHILD syndrome
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chondroectodermal disorders
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chromosomal instability syndromes
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chromosomal mosaicism
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classic hemochromatosis
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clinical genetics
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CNPPB syndrome
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cobalamin C disease
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Cockayne syndrome
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codominance
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Coffin-Lowry syndrome
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COFS syndrome
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Cohen syndrome
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cold-induced sweating syndrome
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combined deficiency of coagulation factors V and (...)
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complex traits
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conformational diseases
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Congenital anomalies
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congenital central hypoventilation syndrome
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congenital generalized lipodystrophy
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congenital generalized osteosclerosis with bilateral (...)
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congenital soft tissue dysplasias
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connective tissue diseases
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constitutional chromosomal anomalies
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Cornelia de Lange syndrome
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Costello syndrome
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Cousin syndrome
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Cowden disease
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Cowden-like syndromes
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COX deficiency
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Crawfurd syndrome
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creatine deficiency
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Cri du chat syndrome
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Crigler-Najjar disease
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Crisponi syndrome
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Cumming syndrome
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Currarino syndrome
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cutaneovisceral angiomatosis
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cyclic neutropenia
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Cystic fibrosis
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cystic malformations
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