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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы
Найдено 3,968 заболеваний (Disease) Сброс

Ankylostomiasis

ORPHA:78Disease
Not applicable

Annular atrophic lichen planus

ORPHA:254411Disease

Annular epidermolytic ichthyosis

ORPHA:281139Disease
Autosomal dominant

Annular lichen planus

ORPHA:254424Disease

Anoctamin-5-related limb-girdle muscular dystrophy R12

ORPHA:206549Disease
Autosomal recessive

Anterior cutaneous nerve entrapment syndrome

ORPHA:51890Disease
Not applicable

Anti-glomerular basement membrane disease

ORPHA:375Disease
Not applicable

Anti-p200 pemphigoid

ORPHA:454710Disease
Not applicable

Antisynthetase syndrome

ORPHA:81Disease
Not applicable

Aplasia cutis congenita-intestinal lymphangiectasia syndrome

ORPHA:1116Disease
Autosomal recessive

Aplasia cutis-myopia syndrome

ORPHA:1117Disease
Autosomal recessive

Aplasia of lacrimal and salivary glands

ORPHA:86815Disease
Autosomal dominant

Aplastic anemia-intellectual disability-dwarfism syndrome

ORPHA:611216Disease

Apnea of prematurity

ORPHA:99981Disease
Not applicable

Apolipoprotein A-I deficiency

ORPHA:425Disease
Autosomal dominant

Apparent mineralocorticoid excess

ORPHA:320Disease
Autosomal recessive

Aquagenic palmoplantar keratoderma

ORPHA:498359Disease

Arachnoiditis

ORPHA:137817Disease
Not applicable

Argentine hemorrhagic fever

ORPHA:319223Disease

Arginine vasopressin deficiency

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

Arginine vasopressin resistance

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

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

ORPHA:3145Disease

Argininemia

ORPHA:90Disease
Autosomal recessive

Argininosuccinic aciduria

ORPHA:23Disease
Autosomal recessive