Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome
Autosomal recessive
Neonatal
Congenital cataracts-facial dysmorphism-neuropathy syndrome
Autosomal recessive
Infancy, Neonatal
Congenital central hypoventilation syndrome
Autosomal dominant, Not applicable
Infancy, Neonatal
Congenital cerebellar ataxia due to RNU12 mutation
Autosomal recessive
Infancy
Congenital cervical spinal stenosis
Adolescent, Adult
Congenital chloride diarrhea
Autosomal recessive
Infancy, Neonatal
Congenital chronic diarrhea with protein-losing enteropathy
Autosomal recessive
Infancy, Neonatal
Congenital chylothorax
Not applicable, Unknown
Infancy, Neonatal
Congenital communicating hydrocephalus
Autosomal recessive
Congenital complete agenesis of pericardium
Not applicable
Congenital contractural arachnodactyly
Autosomal dominant
Neonatal
Congenital cornea plana
Autosomal dominant, Autosomal recessive
Infancy, Neonatal
Congenital cystic eye
Antenatal
Congenital deficiency in alpha-fetoprotein
Autosomal recessive
Antenatal, Neonatal
Congenital diaphragmatic hernia
Multigenic/multifactorial, Not applicable
Neonatal
Congenital diarrhea-chronic gastrointestinal inflammation-ocular dysgenesis syndrome
Autosomal recessive
Congenital disorder of glycosylation
Autosomal recessive, X-linked recessive
Infancy, Neonatal
Congenital dyserythropoietic anemia
Autosomal dominant, Autosomal recessive, X-linked recessive
Childhood
Congenital dyserythropoietic anemia type I
Autosomal recessive
Adolescent, Adult, Childhood, Infancy, Neonatal
Congenital dyserythropoietic anemia type II
Autosomal recessive
Adolescent, Adult, Childhood, Elderly, Infancy, Neonatal
Congenital dyserythropoietic anemia type III
Autosomal dominant, Autosomal recessive
All ages
Congenital dyserythropoietic anemia type IV
Autosomal dominant
Infancy, Neonatal
Congenital ectropion uveae
Neonatal
Congenital enterocyte heparan sulfate deficiency
Infancy, Neonatal