Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis
Autosomal dominant
Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
Autosomal dominant
Infancy, Neonatal
Aortic arch defects
Not applicable
Childhood
Aortic arch interruption
Not applicable
Infancy, Neonatal
Aorto-ventricular tunnel
Not applicable
Infancy, Neonatal
Apert syndrome
Autosomal dominant
Antenatal, Neonatal
Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
Autosomal recessive
Neonatal
Aphalangy-syndactyly-microcephaly syndrome
Autosomal dominant
Antenatal, Neonatal
Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
Autosomal recessive
Infancy, Neonatal
Aplasia cutis congenita
Autosomal dominant, Autosomal recessive, Not applicable
Antenatal, Neonatal
Aplasia cutis congenita-intestinal lymphangiectasia syndrome
Autosomal recessive
Neonatal
Aplasia cutis-myopia syndrome
Autosomal recessive
Neonatal
Aplasia of lacrimal and salivary glands
Autosomal dominant
Aplastic anemia-intellectual disability-dwarfism syndrome
Infancy, Neonatal
Apnea of prematurity
Not applicable
Infancy, Neonatal
Apolipoprotein A-I deficiency
Autosomal dominant
All ages
Apparent mineralocorticoid excess
Autosomal recessive
Infancy, Neonatal
Aprosencephaly cerebellar dysgenesis
Antenatal
Aquagenic palmoplantar keratoderma
Adolescent, Adult, Childhood, Infancy
Arachnodactyly-abnormal ossification-intellectual disability syndrome
Unknown
Infancy, Neonatal
Arachnodactyly-intellectual disability-dysmorphism syndrome
Unknown
Infancy, Neonatal
Arachnoid cyst
Autosomal recessive, Not applicable
Childhood
Arachnoiditis
Not applicable
All ages
Argentine hemorrhagic fever
All ages