Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Böök syndrome
Autosomal dominant
Adult
C syndrome
Not applicable, Unknown
Antenatal, Neonatal
CAMOS syndrome
Autosomal recessive
Infancy, Neonatal
CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome
Autosomal dominant
Childhood, Infancy
CHAND syndrome
Autosomal recessive
Neonatal
CHARGE syndrome
Autosomal dominant, Unknown
Antenatal, Neonatal
CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome
Autosomal dominant
Infancy, Neonatal
CHIME syndrome
Autosomal recessive
Childhood
CK syndrome
X-linked recessive
Infancy, Neonatal
CLAPO syndrome
Unknown
Antenatal, Infancy, Neonatal
CLOVES syndrome
Not applicable
Infancy, Neonatal
CODAS syndrome
Autosomal recessive
Infancy, Neonatal
Caffey disease
Autosomal dominant, Unknown
Antenatal, Childhood, Infancy, Neonatal
Calvarial doughnut lesions-bone fragility syndrome
Autosomal dominant
Childhood
Campomelia, Cumming type
Autosomal recessive
Antenatal, Neonatal
Campomelic dysplasia
Autosomal dominant
Antenatal, Neonatal
Camptobrachydactyly
Autosomal dominant
Neonatal
Camptodactyly syndrome, Guadalajara type 1
Autosomal recessive
Neonatal
Camptodactyly syndrome, Guadalajara type 2
Autosomal recessive
Neonatal
Camptodactyly syndrome, Guadalajara type 3
Neonatal
Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome
Neonatal
Camptodactyly-joint contractures-facial skeletal defects syndrome
Autosomal dominant, Autosomal recessive
Neonatal
Camptodactyly-taurinuria syndrome
Autosomal dominant
Infancy
Camurati-Engelmann disease
Autosomal dominant
Adolescent, Adult, Childhood