Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Chylomicron retention disease
Autosomal recessive
Childhood, Infancy
Chylous ascites
All ages
Chédiak-Higashi syndrome
Autosomal recessive
Childhood
Circumscribed palmoplantar hypokeratosis
Unknown
Adult
Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
Autosomal recessive
Childhood
Citrin deficiency
Autosomal recessive
All ages
Citrullinemia
Autosomal recessive
Adult, Neonatal
Citrullinemia type I
Autosomal recessive
All ages
Citrullinemia type II
Autosomal recessive
Adult
Clark-Baraitser syndrome
Childhood, Infancy, Neonatal
Class I glucose-6-phosphate dehydrogenase deficiency
X-linked recessive
Neonatal
Classic Hodgkin lymphoma
Unknown
All ages
Classic Hodgkin lymphoma, lymphocyte-depleted type
Adult
Classic Hodgkin lymphoma, lymphocyte-rich type
Adult
Classic Hodgkin lymphoma, mixed cellularity type
Adult
Classic Hodgkin lymphoma, nodular sclerosis type
Adult
Classic bladder exstrophy
Multigenic/multifactorial
Infancy, Neonatal
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Autosomal recessive
Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Autosomal recessive
Infancy, Neonatal
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
Autosomal recessive
Infancy, Neonatal
Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Autosomal recessive
Classic eosinophilic pustular folliculitis
Adolescent, Adult
Classic galactosemia
Autosomal recessive
Infancy, Neonatal
Classic glucose transporter type 1 deficiency syndrome
Autosomal dominant, Autosomal recessive
Infancy, Neonatal