Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Cleft lip/palate-ectodermal dysplasia syndrome
Autosomal recessive
Infancy, Neonatal
Cleft lip/palate-intestinal malrotation-cardiopathy syndrome
Autosomal recessive
Neonatal
Cleft palate-large ears-small head syndrome
Infancy, Neonatal
Cleft palate-lateral synechia syndrome
Autosomal dominant
Antenatal, Neonatal
Cleft palate-short stature-vertebral anomalies syndrome
Autosomal dominant
Infancy, Neonatal
Cleft palate-stapes fixation-oligodontia syndrome
Autosomal recessive
Neonatal
Cleidocranial dysplasia
Autosomal dominant, Not applicable
Antenatal, Neonatal
Cleidorhizomelic syndrome
Autosomal dominant
Neonatal
Cloverleaf skull-asphyxiating thoracic dysplasia syndrome
Neonatal
Cloverleaf skull-multiple congenital anomalies syndrome
Autosomal recessive
Antenatal, Neonatal
Cocaine embryofetopathy
Not applicable
Antenatal, Neonatal
Cochleosaccular degeneration-cataract syndrome
Adult
Coffin-Lowry syndrome
X-linked dominant
Childhood, Infancy, Neonatal
Coffin-Siris syndrome
Autosomal dominant
Antenatal, Neonatal
Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
Autosomal dominant, Not applicable
Antenatal, Neonatal
Cohen syndrome
Autosomal recessive
Antenatal, Infancy, Neonatal
Cohen-Gibson syndrome
Autosomal dominant
Antenatal, Neonatal
Cole-Carpenter syndrome
Autosomal dominant, Autosomal recessive, Not applicable
Neonatal
Coloboma of macula-brachydactyly type B syndrome
Autosomal dominant
Antenatal, Neonatal
Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome
Antenatal, Neonatal
Colobomatous microphthalmia
Autosomal dominant, Autosomal recessive
Antenatal, Neonatal
Colobomatous microphthalmia-rhizomelic dysplasia syndrome
Autosomal dominant, Autosomal recessive
Antenatal, Neonatal
Complex lethal osteochondrodysplasia
Autosomal recessive
Antenatal
Conductive deafness-malformed external ear syndrome
Unknown
Neonatal