Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
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
Craniofacial dysostosis-diaphyseal hyperplasia syndrome
Autosomal dominant
Neonatal
Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
Autosomal recessive
Antenatal, Neonatal
Craniofacial-deafness-hand syndrome
Autosomal dominant
Neonatal
Craniofaciofrontodigital syndrome
Unknown
Neonatal
Craniofrontonasal dysplasia
X-linked dominant
Antenatal, Neonatal
Craniofrontonasal dysplasia-Poland anomaly syndrome
Unknown
Neonatal
Craniolenticulosutural dysplasia
Autosomal recessive
Infancy, Neonatal
Craniometadiaphyseal dysplasia, wormian bone type
Autosomal recessive
Neonatal
Craniometaphyseal dysplasia
Autosomal dominant, Autosomal recessive
Childhood
Craniomicromelic syndrome
Infancy, Neonatal
Craniopharyngioma
Not applicable
All ages
Craniorachischisis
Multigenic/multifactorial, Not applicable
Infancy, Neonatal
Craniorhiny
Neonatal
Craniosynostosis
Autosomal dominant, Autosomal recessive, Not applicable, Unknown, X-linked recessive
Infancy, Neonatal
Craniosynostosis, Boston type
Autosomal dominant
Infancy, Neonatal
Craniosynostosis, Herrmann-Opitz type
Antenatal
Craniosynostosis, Philadelphia type
Autosomal dominant
Neonatal
Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
Autosomal dominant
Infancy
Craniosynostosis-anal anomalies-porokeratosis syndrome
Autosomal recessive
Infancy, Neonatal