Rare (orphan) diseases
The full catalogue of 7,547 diseases with genetics, phenotypes, epidemiology, orphan drugs, and clinical trials.
Avian influenza
Not applicable
All ages
Axial spondylometaphyseal dysplasia
Autosomal recessive
Childhood, Infancy
B-cell chronic lymphocytic leukemia
Multigenic/multifactorial, Not applicable
Adult
B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome
Autosomal dominant
Antenatal
B-cell prolymphocytic leukemia
Adult
B4GALT1-CDG
Autosomal recessive
Neonatal
BAG3-related myofibrillar myopathy
Autosomal dominant
Adolescent, Childhood
BAP1-related tumor predisposition syndrome
Autosomal dominant
Adult
BENTA disease
Autosomal dominant
Infancy
BVES-related limb-girdle muscular dystrophy
Autosomal recessive
Adult
Babesiosis
Not applicable
All ages
Bacterial myositis
All ages
Bacterial toxic-shock syndrome
Not applicable
All ages
Bainbridge-Ropers syndrome
Autosomal dominant, Not applicable
Antenatal, Infancy, Neonatal
Balantidiasis
Not applicable
All ages
Baló concentric sclerosis
Multigenic/multifactorial
Adult
Bardet-Biedl syndrome
Autosomal recessive, Oligogenic
Antenatal, Childhood, Infancy, Neonatal
Barth syndrome
X-linked recessive
Childhood
Bartonella bacilliformis infection
All ages
Bartter syndrome
Autosomal dominant, Autosomal recessive, X-linked recessive
Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal
Bathing suit ichthyosis
Autosomal recessive
Infancy, Neonatal
Bazex syndrome
Not applicable
Adult
Bazex-Dupré-Christol syndrome
X-linked dominant
Infancy, Neonatal
Becker muscular dystrophy
X-linked recessive
Adolescent, Adult, Childhood, Elderly