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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

Laryngeal abductor paralysis

ORPHA:2808Порок

Laryngeal abductor paralysis-intellectual disability syndrome

ORPHA:2375Порок
X-linked recessive

Laryngocele

ORPHA:2372Порок

Larynx atresia

ORPHA:1202Порок
Autosomal dominant

Lateral meningocele syndrome

ORPHA:2789Порок
Autosomal dominant

Laurence-Moon syndrome

ORPHA:2377Порок
Autosomal recessive

Laurin-Sandrow syndrome

ORPHA:2378Порок
Autosomal dominant

Legius syndrome

ORPHA:137605Порок
Autosomal dominant

Lelis syndrome

ORPHA:140936Порок
Autosomal recessive

Lenz-Majewski hyperostotic dysplasia

ORPHA:2658Порок
Autosomal dominant

Leri pleonosteosis

ORPHA:2900Порок
Autosomal dominant

Lethal Kniest-like dysplasia

ORPHA:2347Порок
Autosomal recessive

Lethal Larsen-like syndrome

ORPHA:2371Порок
Autosomal recessive

Lethal brain and heart developmental defects

ORPHA:580933Порок
Autosomal recessive

Lethal congenital contracture syndrome type 1

ORPHA:1486Порок
Autosomal recessive

Lethal congenital contracture syndrome type 2

ORPHA:137776Порок
Autosomal recessive

Lethal congenital contracture syndrome type 3

ORPHA:137783Порок
Autosomal recessive

Lethal faciocardiomelic dysplasia

ORPHA:1972Порок
Autosomal recessive

Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome

ORPHA:444069Порок
Autosomal recessive

Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome

ORPHA:439897Порок
Autosomal recessive

Lethal hemolytic anemia-genital anomalies syndrome

ORPHA:1046Порок
Unknown

Lethal hydranencephaly-diaphragmatic hernia syndrome

ORPHA:480528Порок
Autosomal recessive

Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome

ORPHA:2570Порок
X-linked recessive

Lethal multiple pterygium syndrome

ORPHA:33108Порок
Autosomal recessive, X-linked recessive