Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Congenital unilateral hypoplasia of depressor anguli oris
Autosomal dominant
Neonatal
Congenital urachal anomaly
Antenatal, Neonatal
Congenital varicella syndrome
Not applicable
Antenatal, Neonatal
Congenital velopharyngeal incompetence
Autosomal dominant
Neonatal
Congenital vertebral-cardiac-renal anomalies syndrome
Autosomal recessive
Neonatal
Congenital vertical talus
Autosomal dominant
Infancy, Neonatal
Congenital vertical talus, bilateral
Autosomal dominant
Congenital vertical talus, unilateral
Autosomal dominant
Congenital-onset Steinert myotonic dystrophy
Autosomal dominant
Antenatal, Neonatal
Congenitally corrected transposition of the great arteries
Not applicable
All ages
Congenitally short costocoracoid ligament
Autosomal dominant
Infancy, Neonatal
Congenitally uncorrected transposition of the great arteries
Multigenic/multifactorial, Not applicable
Antenatal, Infancy, Neonatal
Congenitally uncorrected transposition of the great arteries with cardiac malformation
Multigenic/multifactorial, Not applicable
Infancy, Neonatal
Congenitally uncorrected transposition of the great arteries with coarctation
Multigenic/multifactorial, Not applicable
Infancy, Neonatal
Conjunctival malignant melanoma
Connective tissue disorder due to lysyl hydroxylase-3 deficiency
Not applicable
Antenatal, Neonatal
Cono-spondylar dysplasia
Autosomal recessive
Antenatal, Infancy, Neonatal
Constitutional dyserythropoietic anemia
Infancy, Neonatal
Constitutional megaloblastic anemia with severe neurologic disease
Autosomal recessive
Childhood, Infancy
Constitutional mismatch repair deficiency syndrome
Autosomal recessive
Childhood
Contractures-developmental delay-Pierre Robin syndrome
Unknown
Antenatal, Neonatal
Contractures-ectodermal dysplasia-cleft lip/palate syndrome
Autosomal recessive, X-linked recessive
Neonatal
Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome
No data available
Infancy, Neonatal
Cooks syndrome
Autosomal dominant
Neonatal