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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы
Найдено 194 заболеваний (Кат.) Сброс

Primary lymphedema

ORPHA:77240Кат.
Autosomal dominant, Autosomal recessive

Primary melanocytic tumor of central nervous system

ORPHA:252028Кат.

Pseudohypoparathyroidism

ORPHA:97593Кат.
Autosomal dominant, Not applicable

Pulmonary arterial hypertension

ORPHA:182090Кат.
Autosomal dominant, Not applicable

Pulmonary arterial hypertension associated with another disease

ORPHA:275791Кат.
Not applicable

Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis

ORPHA:431353Кат.

Rare carcinoma of pancreas

ORPHA:217074Кат.
Not applicable

Rare congenital non-syndromic heart malformation

ORPHA:88991Кат.

Rare developmental defect during embryogenesis

ORPHA:93890Кат.

Rare disease with Pierre Robin syndrome

ORPHA:138044Кат.

Rare epithelial tumor of stomach

ORPHA:63443Кат.
Multigenic/multifactorial, Not applicable

Rare familial disorder with hypertrophic cardiomyopathy

ORPHA:99739Кат.
Autosomal dominant

Rare form of salmonellosis

ORPHA:795Кат.
Not applicable

Rare hereditary hemochromatosis

ORPHA:220489Кат.
Autosomal dominant, Autosomal recessive

Rare inborn errors of metabolism

ORPHA:68367Кат.

Rare lichen planus

ORPHA:254367Кат.

Rare non surgically correctable form of primary aldosteronism

ORPHA:231641Кат.
Autosomal dominant, Not applicable

Rare ovarian cancer

ORPHA:213500Кат.

Rare pulmonary hypertension

ORPHA:71198Кат.

Rare surgically correctable form of primary aldosteronism

ORPHA:231637Кат.
Not applicable

Rare thyroid carcinoma

ORPHA:100088Кат.

Rare thyroid tumor

ORPHA:100087Кат.

Rare urogenital tumor

ORPHA:182114Кат.

Ring chromosome syndrome

ORPHA:363203Кат.