Total: 12287 diseases

• Burn-McKeown syndrome
• Aspartylglucosaminuria
• Atrial septal defect 4
• Atrophoderma vermiculatum
• Atypical mycobacteriosis, familial, X-linked 2
• Baller-Gerold syndrome
• Bothnia retinal dystrophy
• Branchiootic syndrome
• Brugada syndrome 2
• Burkitt lymphoma
• Capillary malformation-arteriovenous malformation
• Conduction disorder of the heart
• Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
• Primary dilated cardiomyopathy
• Deficiency of carnitine acetyltransferase
• Sengers syndrome
• Dilated cardiomyopathy 1P
• Infantile histiocytoid cardiomyopathy
• Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced
• Cataract 3, multiple types
• Cataract 30
• Cataract 6, multiple types
• Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
• Cerebrooculofacioskeletal syndrome 2
• Charcot-Marie-Tooth disease, axonal, type 2b
• Charcot-Marie-Tooth disease, dominant intermediate B
• Abruzzo Erickson syndrome
• Benign hereditary chorea
• Chromosome 16p13.3 deletion syndrome, proximal
• Chromosome 22q11.2 deletion syndrome, distal
• Ciliary dyskinesia, primary, 7
• Coffin-Lowry syndrome
• Combined cellular and humoral immune defects with granulomas
• Congenital disorder of glycosylation type 1J
• Lattice corneal dystrophy type 3A
• Temtamy syndrome
• Craniosynostosis 2
• Cholestanol storage disease
• Charcot-Marie-Tooth disease, type 2L
• Charcot-Marie-Tooth disease, demyelinating, type 1d
• Chondrocalcinosis 2
• Choreoathetosis, hypothyroidism, and neonatal respiratory distress
• Chudley-McCullough syndrome
• Cutis laxa-corneal clouding-oligophrenia syndrome
• Bifunctional peroxisomal enzyme deficiency
• Aminoglycoside-induced deafness
• Deafness, autosomal dominant 23
• Deafness, autosomal recessive 28
• Deafness, autosomal recessive 26, modifier of
• Coenzyme Q10 deficiency, primary 1