Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis
Not applicable
Adolescent, Childhood
Chronic pneumonitis of infancy
Not applicable
Infancy, Neonatal
Chronic respiratory distress with surfactant metabolism deficiency
Autosomal dominant
All ages
Chronic thromboembolic pulmonary hypertension
Not applicable
Adolescent, Adult, Elderly
Chronic visceral acid sphingomyelinase deficiency
Autosomal recessive
Childhood
Chuvash erythrocytosis
Autosomal recessive
Infancy, Neonatal
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
Citrullinemia type I
Autosomal recessive
All ages
Citrullinemia type II
Autosomal recessive
Adult
Class I glucose-6-phosphate dehydrogenase deficiency
X-linked recessive
Neonatal
Classic Hodgkin lymphoma
Unknown
All ages
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Autosomal recessive
Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal
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
Classic hairy cell leukemia
Unknown
Adult
Classic heparin-induced thrombocytopenia
Not applicable
All ages
Classic mycosis fungoides
Multigenic/multifactorial, Not applicable
Adult
Classical Ehlers-Danlos syndrome
Autosomal dominant
Childhood, Infancy, Neonatal
Classical-like Ehlers-Danlos syndrome type 1
Autosomal recessive
Childhood, Infancy, Neonatal