MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов
Найдено 3,968 заболеваний (Заболевание)Сбросить

Low oxygen affinity hemoglobin disease

ORPHA:715147Заболевание
Autosomal dominant

Low phospholipid-associated cholelithiasis

ORPHA:69663Заболевание
Autosomal dominant, Autosomal recessive

Lower motor neuron syndrome with late-adult onset

ORPHA:276435Заболевание
Autosomal dominant

Lowry-Wood syndrome

ORPHA:1824Заболевание
Autosomal recessive

Lujo hemorrhagic fever

ORPHA:319213Заболевание

Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome

ORPHA:137631Заболевание

Lupus erythematosus panniculitis

ORPHA:90285Заболевание

Lupus erythematosus tumidus

ORPHA:90283Заболевание

Lyme disease

ORPHA:91546Заболевание
Not applicable

Lymphangioleiomyomatosis

ORPHA:538Заболевание
Not applicable

Lymphatic filariasis

ORPHA:2035Заболевание
Not applicable

Lymphedema with yellow nails

ORPHA:662Заболевание

Lymphoid interstitial pneumonia

ORPHA:79128Заболевание
Not applicable

Lymphomatoid granulomatosis

ORPHA:86869Заболевание
Not applicable

Lymphomatoid papulosis

ORPHA:98842Заболевание

Lymphoplasmacytic lymphoma without IgM production

ORPHA:443159Заболевание
Not applicable

Lynch syndrome

ORPHA:144Заболевание
Autosomal dominant

Lysinuric protein intolerance

ORPHA:470Заболевание
Autosomal recessive

Lysosomal acid lipase deficiency

ORPHA:275761Заболевание
Autosomal recessive

Lysosomal acid phosphatase deficiency

ORPHA:35121Заболевание
Autosomal recessive

MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome

ORPHA:686495Заболевание
Autosomal recessive

MAGIC syndrome

ORPHA:324972Заболевание

MALT lymphoma

ORPHA:52417Заболевание
Multigenic/multifactorial, Not applicable

MAN1B1-CDG

ORPHA:397941Заболевание
Autosomal recessive