Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Cooper-Jabs syndrome
Autosomal recessive
Neonatal
Coralliform cataract
Autosomal dominant
Infancy, Neonatal
Corneal dystrophy
Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, Not applicable, X-linked recessive
All ages
Corneal dystrophy-perceptive deafness syndrome
Autosomal recessive
Neonatal
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
Autosomal dominant
All ages
Cornelia de Lange syndrome
Autosomal dominant, Not applicable, X-linked recessive
Antenatal, Neonatal
Corneodermatoosseous syndrome
Autosomal dominant
Infancy, Neonatal
Coronary arterial fistula
Not applicable
All ages
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
Corpus callosum agenesis-neuronopathy syndrome
Autosomal recessive
Antenatal, Neonatal
Cortical blindness-intellectual disability-polydactyly syndrome
Autosomal recessive
Antenatal, Neonatal
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Autosomal dominant
Infancy, Neonatal
Corticobasal syndrome
Adult, Elderly
Corticosteroid-binding globulin deficiency
Semi-dominant
Adult
Costello syndrome
Autosomal dominant, Not applicable
Antenatal, Neonatal
Cowden syndrome
Autosomal dominant
All ages
Coxoauricular syndrome
Unknown
Neonatal
Coxopodopatellar syndrome
Autosomal dominant
Infancy, Neonatal
Cramp-fasciculation syndrome
Autosomal dominant
Adult
Crane-Heise syndrome
Autosomal recessive
Antenatal, Neonatal
Cranial meningocele
Infancy, Neonatal
Cranio-cervical dystonia with laryngeal and upper-limb involvement
Autosomal dominant
Adolescent, Adult, Childhood