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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

Blepharophimosis-intellectual disability syndrome, Ohdo type

ORPHA:2728Malform.
Not applicable

Blepharophimosis-intellectual disability syndrome, SBBYS type

ORPHA:3047Malform.
Autosomal dominant

Blepharophimosis-intellectual disability syndrome, Verloes type

ORPHA:293725Malform.
Unknown

Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome

ORPHA:597746Malform.

Blepharophimosis-ptosis-epicanthus inversus syndrome

ORPHA:126Malform.
Autosomal dominant, Not applicable

Blepharophimosis-ptosis-epicanthus inversus syndrome plus

ORPHA:572333Malform.

Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome

ORPHA:2057Malform.
Autosomal recessive

Blindness-scoliosis-arachnodactyly syndrome

ORPHA:171844Malform.
Autosomal dominant

Blomstrand lethal chondrodysplasia

ORPHA:50945Malform.
Autosomal recessive

Blount disease

ORPHA:2768Malform.
Autosomal recessive

Blue rubber bleb nevus

ORPHA:1059Malform.
Autosomal dominant, Not applicable

Bohring-Opitz syndrome

ORPHA:97297Malform.
Autosomal dominant

Bone dysplasia, lethal Holmgren type

ORPHA:1842Malform.
Autosomal recessive

Bonnemann-Meinecke-Reich syndrome

ORPHA:1261Malform.
Autosomal recessive

Borjeson-Forssman-Lehmann syndrome

ORPHA:127Malform.
X-linked recessive

Bosley-Salih-Alorainy syndrome

ORPHA:69737Malform.
Autosomal recessive

Bowen-Conradi syndrome

ORPHA:1270Malform.
Autosomal recessive

Brachydactyly type A1

ORPHA:93388Malform.
Autosomal dominant

Brachydactyly type A2

ORPHA:93396Malform.
Autosomal dominant

Brachydactyly type A4

ORPHA:93394Malform.
Autosomal dominant

Brachydactyly type A6

ORPHA:93382Malform.
Autosomal dominant

Brachydactyly type A7

ORPHA:93397Malform.

Brachydactyly type B

ORPHA:93383Malform.
Autosomal dominant

Brachydactyly type C

ORPHA:93384Malform.
Autosomal dominant, Autosomal recessive