Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Carney complex-trismus-pseudocamptodactyly syndrome
Not applicable
Neonatal
Carney triad
Adolescent, Adult
Carney-Stratakis syndrome
Autosomal dominant
Adolescent, Adult
Carnitine palmitoyl transferase 1A deficiency
Autosomal recessive
Infancy, Neonatal
Carnitine palmitoyl transferase II deficiency, myopathic form
Autosomal recessive
Adolescent, Adult, Childhood, Infancy
Carnitine palmitoyl transferase II deficiency, neonatal form
Autosomal recessive
Neonatal
Carnitine palmitoyl transferase II deficiency, severe infantile form
Autosomal recessive
Infancy, Neonatal
Carnitine palmitoyltransferase II deficiency
Autosomal recessive
All ages
Carnitine-acylcarnitine translocase deficiency
Autosomal recessive
Infancy, Neonatal
Carnosinase deficiency
Autosomal recessive
Infancy
Caroli disease
Autosomal recessive, Not applicable
All ages
Caroli syndrome
Autosomal recessive
All ages
Carotid web
Not applicable
Carpenter syndrome
Autosomal recessive
Antenatal, Childhood, Neonatal
Carpotarsal osteochondromatosis
Autosomal dominant
Adult
Cartilage-hair hypoplasia
Autosomal recessive
Antenatal, Infancy, Neonatal
Carvajal syndrome
Autosomal dominant, Autosomal recessive
Childhood, Infancy, Neonatal
Castleman disease
Not applicable
All ages
Cat-eye syndrome
Not applicable
Antenatal, Neonatal
Cat-scratch disease
Not applicable
All ages
Cataract-aberrant oral frenula-growth delay syndrome
Childhood
Cataract-ataxia-deafness syndrome
Autosomal recessive
Neonatal
Cataract-congenital heart disease-neural tube defect syndrome
Infancy, Neonatal
Cataract-deafness-hypogonadism syndrome
Autosomal recessive
Infancy, Neonatal