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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы

Blount disease

ORPHA:2768Порок
Autosomal recessive

Blue cone monochromatism

ORPHA:16Заболевание
X-linked recessive

Blue diaper syndrome

ORPHA:94086Заболевание

Blue rubber bleb nevus

ORPHA:1059Порок
Autosomal dominant, Not applicable

Body integrity dysphoria

ORPHA:623789Заболевание

Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency

ORPHA:91135Заболевание
Autosomal recessive, Unknown

Bohring-Opitz syndrome

ORPHA:97297Порок
Autosomal dominant

Bolivian hemorrhagic fever

ORPHA:319229Заболевание

Bone dysplasia, lethal Holmgren type

ORPHA:1842Порок
Autosomal recessive

Bone sarcoma

ORPHA:223727Клин. гр.

Bonnemann-Meinecke-Reich syndrome

ORPHA:1261Порок
Autosomal recessive

Boomerang dysplasia

ORPHA:1263Заболевание
Not applicable

Borjeson-Forssman-Lehmann syndrome

ORPHA:127Порок
X-linked recessive

Borna virus encephalitis

ORPHA:637051Заболевание

Bosley-Salih-Alorainy syndrome

ORPHA:69737Порок
Autosomal recessive

Bothnia retinal dystrophy

ORPHA:85128Заболевание
Autosomal recessive

Botulism

ORPHA:1267Заболевание
Not applicable

Boutonneuse fever

ORPHA:83313Заболевание
Not applicable

Bowen-Conradi syndrome

ORPHA:1270Порок
Autosomal recessive

Brachydactylous dwarfism, Mseleni type

ORPHA:2619Заболевание
Unknown

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