Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Cochlear nerve deficiency
Neonatal
Cochleosaccular degeneration-cataract syndrome
Adult
Cochleovestibular malformation
Neonatal
Cockayne syndrome
Autosomal recessive
All ages
Cockayne syndrome type 1
Autosomal recessive
Antenatal, Infancy, Neonatal
Cockayne syndrome type 2
Autosomal recessive
Antenatal, Infancy, Neonatal
Cockayne syndrome type 3
Autosomal recessive
Antenatal, Infancy, Neonatal
Coenzyme Q10 deficiency
Autosomal recessive
All ages
Coffin-Lowry syndrome
X-linked dominant
Childhood, Infancy, Neonatal
Coffin-Siris syndrome
Autosomal dominant
Antenatal, Neonatal
Cogan syndrome
Not applicable
Adolescent, Adult, Childhood
Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
Autosomal dominant, Not applicable
Antenatal, Neonatal
Cohen syndrome
Autosomal recessive
Antenatal, Infancy, Neonatal
Cohen-Gibson syndrome
Autosomal dominant
Antenatal, Neonatal
Colchicine poisoning
Not applicable
All ages
Cold agglutinin disease
Multigenic/multifactorial
Adult
Cold-induced sweating syndrome
Autosomal recessive
Adult, Childhood
Cold-induced sweating syndrome-hyperthermia spectrum
Autosomal recessive
Cole-Carpenter syndrome
Autosomal dominant, Autosomal recessive, Not applicable
Neonatal
Collecting duct carcinoma
Not applicable
Adult
Coloboma of choroid and retina
Autosomal dominant