Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Bazex-Dupré-Christol syndrome
X-linked dominant
Infancy, Neonatal
Becker muscular dystrophy
X-linked recessive
Adolescent, Adult, Childhood, Elderly
Becker nevus syndrome
Not applicable
All ages
Beckwith-Wiedemann syndrome
Autosomal dominant, Unknown
Antenatal, Neonatal
Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Not applicable
Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Infancy, Neonatal
Beckwith-Wiedemann syndrome due to CDKN1C mutation
Autosomal dominant
Infancy, Neonatal
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Infancy, Neonatal
Beemer-Ertbruggen syndrome
Autosomal recessive
Neonatal
Behavioral variant of frontotemporal dementia
Autosomal dominant
Adult
Behr syndrome
Autosomal recessive
Behçet disease
Multigenic/multifactorial
Adolescent, Adult, Childhood
Bencze syndrome
Autosomal dominant
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