Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Orofaciodigital syndrome type 8
X-linked recessive
Infancy, Neonatal
Orofaciodigital syndrome type 9
Autosomal recessive
Antenatal, Infancy, Neonatal
Osteocraniostenosis
Autosomal dominant
Antenatal, 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
Osteoporosis-oculocutaneous hypopigmentation syndrome
Autosomal recessive
Infancy, Neonatal
Osteosclerosis-developmental delay-craniosynostosis syndrome
Autosomal dominant
Infancy, Neonatal
Osteosclerotic bone dysplasia
Autosomal recessive
Antenatal, Neonatal
Osteosclerotic metaphyseal dysplasia
Autosomal recessive
Infancy
Otodental syndrome
Autosomal dominant
Childhood
Otofaciocervical syndrome
Autosomal dominant, Autosomal recessive
Antenatal, Neonatal
Otoonychoperoneal syndrome
Autosomal recessive
Antenatal, Neonatal
Otopalatodigital syndrome type 1
X-linked dominant
Antenatal, Infancy, Neonatal
Otopalatodigital syndrome type 2
X-linked dominant
Antenatal, Neonatal
Overgrowth syndrome with 2q37 translocation
Infancy, Neonatal
Overgrowth-macrocephaly-facial dysmorphism syndrome
Autosomal dominant
Antenatal, Infancy, Neonatal
Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome
Antenatal, Neonatal
PAGOD syndrome
Not applicable
Neonatal
PAICS deficiency
PARC syndrome
Autosomal dominant
Infancy, Neonatal