Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Orofaciodigital syndrome type 6
Autosomal recessive, X-linked recessive
Infancy, Neonatal
Orofaciodigital syndrome type 8
X-linked recessive
Infancy, Neonatal
Orofaciodigital syndrome type 9
Autosomal recessive
Antenatal, Infancy, Neonatal
Oromandibular dystonia
Adolescent, Adult, Childhood, Elderly, Infancy
Oromandibular-limb hypogenesis syndrome
Infancy, Neonatal
Osgood-Schlatter disease
Not applicable
Adolescent, Childhood
Ossification anomalies-psychomotor developmental delay syndrome
Infancy, Neonatal
Osteochondritis dissecans
Not applicable
All ages
Osteochondrosis of the metatarsal bone
Adolescent, Adult
Osteochondrosis of the tarsal bone
Adolescent, Childhood
Osteocraniostenosis
Autosomal dominant
Antenatal, Neonatal
Osteofibrous dysplasia
Autosomal dominant
Childhood, Infancy
Osteogenesis imperfecta
Autosomal dominant, Autosomal recessive, X-linked recessive
All ages
Osteogenesis imperfecta type 1
Autosomal dominant
Childhood
Osteogenesis imperfecta type 2
Autosomal dominant, Autosomal recessive
Antenatal, Neonatal
Osteogenesis imperfecta type 3
Autosomal dominant, Autosomal recessive, X-linked recessive
Infancy, Neonatal
Osteogenesis imperfecta type 4
Autosomal dominant, Autosomal recessive, X-linked recessive
Infancy, Neonatal
Osteogenesis imperfecta type 5
Autosomal dominant, Autosomal recessive
Infancy, Neonatal
Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
Unknown
Infancy, Neonatal
Osteoglosphonic dysplasia
Autosomal dominant
Neonatal
Osteomesopyknosis
Autosomal dominant
Adolescent, Adult, Childhood
Osteopathia striata-cranial sclerosis syndrome
X-linked dominant
Antenatal, Infancy, Neonatal
Osteopathia striata-pigmentary dermopathy-white forelock syndrome
Autosomal dominant, X-linked dominant
Neonatal
Osteopenia-intellectual disability-sparse hair syndrome
Autosomal recessive
Infancy, Neonatal