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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы
Найдено 1,772 заболеваний (Порок) Сброс

Brachydactyly type E

ORPHA:93387Порок
Autosomal dominant

Brachydactyly-arterial hypertension syndrome

ORPHA:1276Порок
Autosomal dominant

Brachydactyly-elbow wrist dysplasia syndrome

ORPHA:1275Порок
Autosomal dominant

Brachydactyly-long thumb syndrome

ORPHA:2946Порок
Autosomal dominant

Brachydactyly-mesomelia-intellectual disability-heart defects syndrome

ORPHA:1277Порок

Brachydactyly-nystagmus-cerebellar ataxia syndrome

ORPHA:1246Порок
Unknown

Brachydactyly-preaxial hallux varus syndrome

ORPHA:1278Порок
Autosomal dominant

Brachydactyly-short stature-retinitis pigmentosa syndrome

ORPHA:166035Порок
Autosomal recessive

Brachydactyly-syndactyly, Zhao type

ORPHA:93409Порок
Autosomal dominant

Brachymorphism-onychodysplasia-dysphalangism syndrome

ORPHA:1292Порок
Autosomal dominant

Brachyolmia, Maroteaux type

ORPHA:93302Порок
Autosomal recessive

Brachyolmia-amelogenesis imperfecta syndrome

ORPHA:2899Порок
Autosomal recessive

Brachytelephalangic chondrodysplasia punctata

ORPHA:79345Порок
X-linked recessive

Brachytelephalangy-dysmorphism-Kallmann syndrome

ORPHA:1295Порок
Autosomal dominant

Braddock syndrome

ORPHA:52047Порок
Autosomal recessive

Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome

ORPHA:664410Порок
Autosomal dominant, Not applicable

Brain malformation-congenital heart disease-postaxial polydactyly syndrome

ORPHA:75389Порок
Unknown

Branchio-oculo-facial syndrome

ORPHA:1297Порок
Autosomal dominant

Branchiogenic deafness syndrome

ORPHA:50815Порок
Autosomal dominant

Branchiootic syndrome

ORPHA:52429Порок
Autosomal dominant

Branchioskeletogenital syndrome

ORPHA:1299Порок
Autosomal recessive, X-linked dominant

Bronchopulmonary dysplasia

ORPHA:70589Порок
Not applicable

Bruck syndrome

ORPHA:2771Порок
Autosomal recessive

Burn-McKeown syndrome

ORPHA:1200Порок
Autosomal recessive