Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Congenital intrinsic factor deficiency
Autosomal recessive, Not applicable
Childhood
Congenital isolated ACTH deficiency
Autosomal recessive
Neonatal
Congenital isolated hyperinsulinism
Autosomal dominant, Autosomal recessive
Childhood, Infancy, Neonatal
Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
Autosomal recessive
Neonatal
Congenital lactase deficiency
Autosomal recessive
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Autosomal recessive
Infancy, Neonatal
Congenital laryngeal cyst
Infancy, Neonatal
Congenital laryngeal palsy
Neonatal
Congenital laryngomalacia
Infancy, Neonatal
Congenital left ventricular aneurysm
Antenatal, Neonatal
Congenital lethal erythroderma
Autosomal recessive
Neonatal
Congenital lethal myopathy, Compton-North type
Autosomal recessive
Antenatal, Neonatal
Congenital limbs-face contractures-hypotonia-developmental delay syndrome
Autosomal dominant
Antenatal, Neonatal
Congenital lipoid adrenal hyperplasia due to STAR deficency
Autosomal recessive
Childhood, Infancy, Neonatal
Congenital lobar emphysema
Not applicable
Adult, Childhood, Infancy, Neonatal
Congenital long QT syndrome
Autosomal dominant, Autosomal recessive
Adolescent, Adult, Childhood
Congenital macroglossia
Neonatal
Congenital megacalycosis
Unknown
All ages
Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization
Autosomal recessive
Antenatal, Neonatal
Congenital mesoblastic nephroma
Infancy, Neonatal
Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
Autosomal recessive
Infancy, Neonatal
Congenital microcoria
Autosomal dominant
Infancy, Neonatal
Congenital microgastria
Antenatal, Infancy, Neonatal
Congenital multicore myopathy with external ophthalmoplegia
Autosomal recessive
Infancy, Neonatal