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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы

B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality

ORPHA:585877Этиол. подт.

B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)

ORPHA:585929Этиол. подт.

B-lymphoblastic leukemia/lymphoma with t(17;19)

ORPHA:641375Этиол. подт.

B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)

ORPHA:585956Этиол. подт.

B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)

ORPHA:585948Этиол. подт.

B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)

ORPHA:641372Этиол. подт.

B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)

ORPHA:585909Этиол. подт.
Not applicable

B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)

ORPHA:585918Этиол. подт.

B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome

ORPHA:536467Клин. подт.
Autosomal recessive

B4GALT1-CDG

ORPHA:79332Заболевание
Autosomal recessive

B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome

ORPHA:75496Клин. подт.
Autosomal recessive

BAG3-related myofibrillar myopathy

ORPHA:199340Заболевание
Autosomal dominant

BAP1-related tumor predisposition syndrome

ORPHA:289539Заболевание
Autosomal dominant

BENTA disease

ORPHA:464336Заболевание
Autosomal dominant

BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy

ORPHA:363454Этиол. подт.
Autosomal dominant

BNAR syndrome

ORPHA:217266Порок
Autosomal recessive

BOR syndrome

ORPHA:107Порок
Autosomal dominant

BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome

ORPHA:686482Порок
Autosomal dominant

BRESEK syndrome

ORPHA:85284Порок
X-linked dominant

BVES-related limb-girdle muscular dystrophy

ORPHA:476084Заболевание
Autosomal recessive

Babesiosis

ORPHA:108Заболевание
Not applicable

Bacterial myositis

ORPHA:206994Заболевание

Bacterial toxic-shock syndrome

ORPHA:36234Заболевание
Not applicable

Bainbridge-Ropers syndrome

ORPHA:352577Заболевание
Autosomal dominant, Not applicable