Rare (orphan) diseases
The full catalogue of 7,547 diseases with genetics, phenotypes, epidemiology, orphan drugs, and clinical trials.
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