Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Bullous lichen planus
Autosomal dominant, Not applicable
Childhood
Bullous pemphigoid
Not applicable
All ages
Bullous pyoderma gangrenosum
Multigenic/multifactorial
Adolescent, Adult, Childhood, Elderly
Burkitt lymphoma
Not applicable
All ages
Burn-McKeown syndrome
Autosomal recessive
Neonatal
Burning mouth syndrome
Adult
Butterfly-shaped pigment dystrophy
Autosomal dominant
Adult
Böök syndrome
Autosomal dominant
Adult
C syndrome
Not applicable, Unknown
Antenatal, Neonatal
C11ORF73-related autosomal recessive hypomyelinating leukodystrophy
Autosomal recessive
Infancy
C12ORF65-related combined oxidative phosphorylation defect
All ages
C3 glomerulonephritis
Autosomal dominant
C3 glomerulopathy
Multigenic/multifactorial
All ages
CACH syndrome
Autosomal recessive
Childhood
CAD-CDG
Autosomal recessive
Infancy
CADDS
X-linked recessive
Infancy, Neonatal
CADINS disease
Autosomal dominant
CAMOS syndrome
Autosomal recessive
Infancy, Neonatal
CANOMAD syndrome
Adult, Elderly
CAR T cell therapy-associated cytokine release syndrome
Adult
CARD8-related inflammatory bowel disease
Autosomal dominant
CCDC115-CDG
Autosomal recessive
Infancy, Neonatal
CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome
Autosomal dominant
Neonatal
CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome
Autosomal dominant
Childhood, Infancy