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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

Blepharophimosis-intellectual disability syndrome, Ohdo type

ORPHA:2728Порок
Not applicable

Blepharophimosis-intellectual disability syndrome, SBBYS type

ORPHA:3047Порок
Autosomal dominant

Blepharophimosis-intellectual disability syndrome, Verloes type

ORPHA:293725Порок
Unknown

Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome

ORPHA:597746Порок

Blepharophimosis-ptosis-epicanthus inversus syndrome

ORPHA:126Порок
Autosomal dominant, Not applicable

Blepharophimosis-ptosis-epicanthus inversus syndrome plus

ORPHA:572333Порок

Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome

ORPHA:2057Порок
Autosomal recessive

Blindness-scoliosis-arachnodactyly syndrome

ORPHA:171844Порок
Autosomal dominant

Blomstrand lethal chondrodysplasia

ORPHA:50945Порок
Autosomal recessive

Blount disease

ORPHA:2768Порок
Autosomal recessive

Blue rubber bleb nevus

ORPHA:1059Порок
Autosomal dominant, Not applicable

Bohring-Opitz syndrome

ORPHA:97297Порок
Autosomal dominant

Bone dysplasia, lethal Holmgren type

ORPHA:1842Порок
Autosomal recessive

Bonnemann-Meinecke-Reich syndrome

ORPHA:1261Порок
Autosomal recessive

Borjeson-Forssman-Lehmann syndrome

ORPHA:127Порок
X-linked recessive

Bosley-Salih-Alorainy syndrome

ORPHA:69737Порок
Autosomal recessive

Bowen-Conradi syndrome

ORPHA:1270Порок
Autosomal recessive

Brachydactyly type A1

ORPHA:93388Порок
Autosomal dominant

Brachydactyly type A2

ORPHA:93396Порок
Autosomal dominant

Brachydactyly type A4

ORPHA:93394Порок
Autosomal dominant

Brachydactyly type A6

ORPHA:93382Порок
Autosomal dominant

Brachydactyly type A7

ORPHA:93397Порок

Brachydactyly type B

ORPHA:93383Порок
Autosomal dominant

Brachydactyly type C

ORPHA:93384Порок
Autosomal dominant, Autosomal recessive