Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
FRAXE intellectual disability
X-linked recessive
Antenatal, Infancy, Neonatal
FRAXF syndrome
Unknown
Antenatal, Infancy, Neonatal
FTH1-related iron overload
Autosomal dominant
No data available
Fabry disease
X-linked dominant, X-linked recessive
Adolescent, Adult, Childhood
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
Autosomal recessive
Infancy, Neonatal
Facial onset sensory and motor neuronopathy
Unknown
Adult, Elderly
Facioscapulohumeral dystrophy
Autosomal dominant
All ages
Factor V short isoforms-related bleeding disorder
Autosomal dominant
No data available
Familial Alzheimer-like prion disease
Autosomal dominant
Adult
Familial Chilblain lupus
Autosomal dominant
Childhood, Infancy
Familial Mediterranean fever
Autosomal dominant, Autosomal recessive
Adolescent, Adult, Childhood, Infancy
Familial abdominal aortic aneurysm
Adult, Elderly
Familial acute necrotizing encephalopathy
Autosomal dominant
Adolescent, Adult, Childhood, Infancy
Familial adenomatous polyposis
Autosomal dominant, Autosomal recessive
Adult
Familial adrenal hypoplasia with absent pituitary luteinizing hormone
Autosomal recessive
Infancy
Familial adult myoclonic epilepsy
Autosomal dominant
All ages
Familial advanced sleep-phase syndrome
Autosomal dominant
Adolescent, Childhood
Familial anetoderma
Autosomal dominant, Autosomal recessive
All ages
Familial aortic dissection
All ages
Familial articular hypermobility syndrome
Autosomal dominant
Adolescent, Childhood, Infancy
Familial atrial myxoma
Autosomal dominant
Adolescent, Adult
Familial atypical multiple mole melanoma syndrome
Autosomal dominant
All ages
Familial avascular necrosis of femoral head
Autosomal dominant
Adult
Familial benign copper deficiency
Infancy