Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Odontomicronychial dysplasia
Autosomal recessive
Childhood
Odontotrichomelic syndrome
Autosomal recessive
Childhood
Ogden syndrome
X-linked dominant, X-linked recessive
Infancy, Neonatal
Oguchi disease
Autosomal recessive
Infancy, Neonatal
Okihiro syndrome
Autosomal dominant
Neonatal
Okur-Chung neurodevelopmental syndrome
Autosomal dominant
Oliver syndrome
Autosomal recessive
Infancy, Neonatal
Olivopontocerebellar atrophy-deafness syndrome
Autosomal recessive
Infancy, Neonatal
Omodysplasia
Autosomal dominant, Autosomal recessive
Infancy, Neonatal
Omphalocele syndrome, Shprintzen-Goldberg type
Neonatal
Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
Antenatal, Neonatal
Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome
Autosomal dominant
Ophthalmomandibulomelic dysplasia
No data available
Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome
Neonatal
Opitz GBBB syndrome
X-linked recessive
Antenatal, Infancy, Neonatal
Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome
Orofaciodigital syndrome type 1
Not applicable, X-linked dominant
Antenatal, Infancy, Neonatal
Orofaciodigital syndrome type 11
Not applicable
Neonatal
Orofaciodigital syndrome type 14
Autosomal recessive
Antenatal, Neonatal
Orofaciodigital syndrome type 18
Autosomal recessive
Neonatal
Orofaciodigital syndrome type 2
Autosomal recessive
Antenatal, Infancy, Neonatal
Orofaciodigital syndrome type 4
Autosomal recessive
Antenatal, Infancy, Neonatal
Orofaciodigital syndrome type 5
Autosomal recessive
Infancy, Neonatal
Orofaciodigital syndrome type 6
Autosomal recessive, X-linked recessive
Infancy, Neonatal