Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Becker nevus syndrome
Not applicable
All ages
Behavioral variant of frontotemporal dementia
Autosomal dominant
Adult
Behçet disease
Multigenic/multifactorial
Adolescent, Adult, Childhood
Benign Samaritan congenital myopathy
Autosomal recessive
Infancy, Neonatal
Benign cephalic histiocytosis
Not applicable
Infancy
Benign concentric annular macular dystrophy
Autosomal dominant
Childhood
Benign epithelial tumor of salivary glands
Not applicable
Benign hereditary chorea
Autosomal dominant
Childhood, Infancy
Benign infantile focal epilepsy with midline spikes and waves during sleep
Infancy
Benign metanephric tumor
Not applicable
All ages
Benign nocturnal alternating hemiplegia of childhood
Unknown
Childhood, Infancy
Benign paroxysmal tonic upgaze of childhood with ataxia
Infancy, Neonatal
Benign paroxysmal torticollis of infancy
Autosomal dominant, Not applicable, Unknown
Childhood, Infancy, Neonatal
Benign recurrent intrahepatic cholestasis
Autosomal dominant, Autosomal recessive
All ages
Benign schwannoma
Not applicable
Adult, Elderly
Bernard-Soulier syndrome
Autosomal dominant, Autosomal recessive
All ages
Best vitelliform macular dystrophy
Autosomal dominant
Adolescent, Childhood
Beta-ketothiolase deficiency
Autosomal recessive
Childhood, Infancy, Neonatal
Beta-mannosidosis
Autosomal recessive
Adolescent, Adult, Childhood, Infancy, Neonatal
Beta-propeller protein-associated neurodegeneration
X-linked dominant
Childhood
Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
Autosomal recessive
Adolescent, Childhood
Beta-thalassemia intermedia
Autosomal recessive
Childhood
Beta-thalassemia major
Autosomal recessive
Infancy, Neonatal
Beta-thalassemia-X-linked thrombocytopenia syndrome
X-linked recessive
No data available