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Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Brachydactyly type A7

ORPHA:93397Мальф.

Brachydactyly type B

ORPHA:93383Мальф.
Autosomal dominant

Brachydactyly type B1

ORPHA:572385Клин. под.
Autosomal dominant

Brachydactyly type B2

ORPHA:140908Клин. под.
Autosomal dominant

Brachydactyly type C

ORPHA:93384Мальф.
Autosomal dominant, Autosomal recessive

Brachydactyly type E

ORPHA:93387Мальф.
Autosomal dominant

Brachydactyly-arterial hypertension syndrome

ORPHA:1276Мальф.
Autosomal dominant

Brachydactyly-elbow wrist dysplasia syndrome

ORPHA:1275Мальф.
Autosomal dominant

Brachydactyly-long thumb syndrome

ORPHA:2946Мальф.
Autosomal dominant

Brachydactyly-mesomelia-intellectual disability-heart defects syndrome

ORPHA:1277Мальф.

Brachydactyly-nystagmus-cerebellar ataxia syndrome

ORPHA:1246Мальф.
Unknown

Brachydactyly-preaxial hallux varus syndrome

ORPHA:1278Мальф.
Autosomal dominant

Brachydactyly-short stature-retinitis pigmentosa syndrome

ORPHA:166035Мальф.
Autosomal recessive

Brachydactyly-syndactyly, Zhao type

ORPHA:93409Мальф.
Autosomal dominant

Brachymorphism-onychodysplasia-dysphalangism syndrome

ORPHA:1292Мальф.
Autosomal dominant

Brachyolmia

ORPHA:1293Клин. топ
Autosomal dominant, Autosomal recessive

Brachyolmia, Maroteaux type

ORPHA:93302Мальф.
Autosomal recessive

Brachyolmia-amelogenesis imperfecta syndrome

ORPHA:2899Мальф.
Autosomal recessive

Brachytelephalangic chondrodysplasia punctata

ORPHA:79345Мальф.
X-linked recessive

Brachytelephalangy-dysmorphism-Kallmann syndrome

ORPHA:1295Мальф.
Autosomal dominant

Braddock syndrome

ORPHA:52047Мальф.
Autosomal recessive

Bradyopsia

ORPHA:75374Ауру
Autosomal recessive

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

ORPHA:664410Мальф.
Autosomal dominant, Not applicable

Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation

ORPHA:664416Этио. под.
Autosomal dominant