Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
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