Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality
Adolescent, Adult, Childhood, Elderly, Infancy
B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)
Adolescent, Adult, Childhood
B-lymphoblastic leukemia/lymphoma with t(17;19)
B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)
Adolescent, Adult, Childhood
B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)
Adolescent, Adult, Childhood
B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)
B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)
Not applicable
Adolescent, Adult, Childhood, Elderly, Infancy
B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)
Adolescent, Adult, Childhood, Infancy
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
Autosomal recessive
Neonatal
B4GALT1-CDG
Autosomal recessive
Neonatal
B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
Autosomal recessive
Neonatal
BAG3-related myofibrillar myopathy
Autosomal dominant
Adolescent, Childhood
BAP1-related tumor predisposition syndrome
Autosomal dominant
Adult
BENTA disease
Autosomal dominant
Infancy
BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
Autosomal dominant
Antenatal, Childhood, Infancy, Neonatal
BNAR syndrome
Autosomal recessive
Antenatal, Neonatal
BOR syndrome
Autosomal dominant
Antenatal, Childhood, Infancy, Neonatal
BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome
Autosomal dominant
BRESEK syndrome
X-linked dominant
Childhood
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