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C syndrome
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CADASIL
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carbamyl phosphate synthetase deficiency
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cardiofaciocutaneous syndrome
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Carney triad
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carnitine palmitoyltransferase deficiencies
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carnitine palmitoyltransferase deficiency type (...)
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carnitine palmitoyltransferase deficiency type (...)
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cartilage-hair hypoplasia
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cblC type of combined methylmalonic aciduria and (...)
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CD18 deficiency
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CD3Z-associated primary T-cell immunodeficiency
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CD40L deficiency
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CDAGS syndrome
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CDG1A
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CDG1B
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CDG1M
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CDG2C
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CEDNIK syndrome
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central core disease
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centronuclear myopathy
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cerebral capillary malformation
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cerebrooculofacioskeletal syndrome type 4
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cerebrooculogacioskeletal syndrome
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cerebrotendinous xanthomatosis
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CHARGE association
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cherubism
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CHILD syndrome
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chronic granulomatous disease
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chronic recurrent multifocal osteomyelitis
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citrin deficiency
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classic hemochromatosis
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CNPPB syndrome
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cobalamin C disease
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Cockayne syndrome
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coenzyme Q10 deficiency
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Coffin-Lowry syndrome
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Cohen syndrome
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combined deficiency of coagulation factors V and (...)
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common variable immune deficiency
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cone rod dystrophies
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conformational diseases
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congenital bile adid synthesis defect type 1
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congenital bile adid synthesis defect type 2
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congenital erythropoietic porphyria
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congenital generalized osteosclerosis with bilateral (...)
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Cornelia de Lange syndrome
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Cousin syndrome
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Cowden disease
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COX deficiency
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Crigler-Najjar disease
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Crigler-Najjar syndrome type 1
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Crisponi syndrome
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Currarino syndrome
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cystinosis
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