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

Ankylostomiasis

ORPHA:78Заболевание
Not applicable

Annular atrophic lichen planus

ORPHA:254411Заболевание

Annular epidermolytic ichthyosis

ORPHA:281139Заболевание
Autosomal dominant

Annular lichen planus

ORPHA:254424Заболевание

Anoctamin-5-related limb-girdle muscular dystrophy R12

ORPHA:206549Заболевание
Autosomal recessive

Anterior cutaneous nerve entrapment syndrome

ORPHA:51890Заболевание
Not applicable

Anti-glomerular basement membrane disease

ORPHA:375Заболевание
Not applicable

Anti-p200 pemphigoid

ORPHA:454710Заболевание
Not applicable

Antisynthetase syndrome

ORPHA:81Заболевание
Not applicable

Aplasia cutis congenita-intestinal lymphangiectasia syndrome

ORPHA:1116Заболевание
Autosomal recessive

Aplasia cutis-myopia syndrome

ORPHA:1117Заболевание
Autosomal recessive

Aplasia of lacrimal and salivary glands

ORPHA:86815Заболевание
Autosomal dominant

Aplastic anemia-intellectual disability-dwarfism syndrome

ORPHA:611216Заболевание

Apnea of prematurity

ORPHA:99981Заболевание
Not applicable

Apolipoprotein A-I deficiency

ORPHA:425Заболевание
Autosomal dominant

Apparent mineralocorticoid excess

ORPHA:320Заболевание
Autosomal recessive

Aquagenic palmoplantar keratoderma

ORPHA:498359Заболевание

Arachnoiditis

ORPHA:137817Заболевание
Not applicable

Argentine hemorrhagic fever

ORPHA:319223Заболевание

Arginine vasopressin deficiency

ORPHA:178029Заболевание
Autosomal dominant, Autosomal recessive, X-linked dominant

Arginine vasopressin resistance

ORPHA:223Заболевание
Autosomal dominant, Autosomal recessive, X-linked recessive

Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome

ORPHA:3145Заболевание

Argininemia

ORPHA:90Заболевание
Autosomal recessive

Argininosuccinic aciduria

ORPHA:23Заболевание
Autosomal recessive