Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Congenital subglottic stenosis
Neonatal
Congenital vertebral-cardiac-renal anomalies syndrome
Autosomal recessive
Neonatal
Congenitally short costocoracoid ligament
Autosomal dominant
Infancy, Neonatal
Cono-spondylar dysplasia
Autosomal recessive
Antenatal, Infancy, Neonatal
Contractures-developmental delay-Pierre Robin syndrome
Unknown
Antenatal, Neonatal
Contractures-ectodermal dysplasia-cleft lip/palate syndrome
Autosomal recessive, X-linked recessive
Neonatal
Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome
No data available
Infancy, Neonatal
Cooks syndrome
Autosomal dominant
Neonatal
Cooper-Jabs syndrome
Autosomal recessive
Neonatal
Corneal dystrophy-perceptive deafness syndrome
Autosomal recessive
Neonatal
Cornelia de Lange syndrome
Autosomal dominant, Not applicable, X-linked recessive
Antenatal, Neonatal
Corneodermatoosseous syndrome
Autosomal dominant
Infancy, Neonatal
Corpus callosum agenesis-abnormal genitalia syndrome
X-linked recessive
Infancy, Neonatal
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
X-linked recessive
Infancy, Neonatal
Corpus callosum agenesis-macrocephaly-hypertelorism syndrome
Unknown
Infancy, Neonatal
Cortical blindness-intellectual disability-polydactyly syndrome
Autosomal recessive
Antenatal, Neonatal
Costello syndrome
Autosomal dominant, Not applicable
Antenatal, Neonatal
Coxoauricular syndrome
Unknown
Neonatal
Crane-Heise syndrome
Autosomal recessive
Antenatal, Neonatal
Cranio-osteoarthropathy
Autosomal recessive
Childhood
Craniodiaphyseal dysplasia
Autosomal dominant, Autosomal recessive, Not applicable
Childhood
Craniodigital-intellectual disability syndrome
Autosomal recessive, X-linked recessive
Neonatal
Cranioectodermal dysplasia
Autosomal recessive
Antenatal, Neonatal
Craniofacial conodysplasia
Autosomal dominant
No data available