Total: 12287 diseases
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- 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