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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

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

Brachydactyly type E

ORPHA:93387Malform.
Autosomal dominant

Brachydactyly-arterial hypertension syndrome

ORPHA:1276Malform.
Autosomal dominant

Brachydactyly-elbow wrist dysplasia syndrome

ORPHA:1275Malform.
Autosomal dominant

Brachydactyly-long thumb syndrome

ORPHA:2946Malform.
Autosomal dominant

Brachydactyly-mesomelia-intellectual disability-heart defects syndrome

ORPHA:1277Malform.

Brachydactyly-nystagmus-cerebellar ataxia syndrome

ORPHA:1246Malform.
Unknown

Brachydactyly-preaxial hallux varus syndrome

ORPHA:1278Malform.
Autosomal dominant

Brachydactyly-short stature-retinitis pigmentosa syndrome

ORPHA:166035Malform.
Autosomal recessive

Brachydactyly-syndactyly, Zhao type

ORPHA:93409Malform.
Autosomal dominant

Brachymorphism-onychodysplasia-dysphalangism syndrome

ORPHA:1292Malform.
Autosomal dominant

Brachyolmia, Maroteaux type

ORPHA:93302Malform.
Autosomal recessive

Brachyolmia-amelogenesis imperfecta syndrome

ORPHA:2899Malform.
Autosomal recessive

Brachytelephalangic chondrodysplasia punctata

ORPHA:79345Malform.
X-linked recessive

Brachytelephalangy-dysmorphism-Kallmann syndrome

ORPHA:1295Malform.
Autosomal dominant

Braddock syndrome

ORPHA:52047Malform.
Autosomal recessive

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

ORPHA:664410Malform.
Autosomal dominant, Not applicable

Brain malformation-congenital heart disease-postaxial polydactyly syndrome

ORPHA:75389Malform.
Unknown

Branchio-oculo-facial syndrome

ORPHA:1297Malform.
Autosomal dominant

Branchiogenic deafness syndrome

ORPHA:50815Malform.
Autosomal dominant

Branchiootic syndrome

ORPHA:52429Malform.
Autosomal dominant

Branchioskeletogenital syndrome

ORPHA:1299Malform.
Autosomal recessive, X-linked dominant

Bronchopulmonary dysplasia

ORPHA:70589Malform.
Not applicable

Bruck syndrome

ORPHA:2771Malform.
Autosomal recessive

Burn-McKeown syndrome

ORPHA:1200Malform.
Autosomal recessive