MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Hereditary pheochromocytoma-paraganglioma

ORPHA:29072Заболевание
Autosomal dominant

Hereditary progressive cardiac conduction defect

ORPHA:871Заболевание
Autosomal dominant

Hereditary progressive mucinous histiocytosis

ORPHA:158025Заболевание
Autosomal dominant

Hereditary pulmonary alveolar proteinosis

ORPHA:264675Заболевание
Autosomal recessive

Hereditary renal hypouricemia

ORPHA:94088Мальформация
Autosomal recessive

Hereditary retinoblastoma

ORPHA:357027Клин. подтип
Autosomal dominant

Hereditary sclerosing poikiloderma, Weary type

ORPHA:221039Заболевание

Hereditary sensorimotor neuropathy with hyperelastic skin

ORPHA:280598Заболевание
Autosomal dominant

Hereditary sensory and autonomic neuropathy due to TECPR2 mutation

ORPHA:320385Заболевание
Autosomal recessive

Hereditary sensory and autonomic neuropathy type 1

ORPHA:36386Заболевание
Autosomal dominant

Hereditary sensory and autonomic neuropathy type 1B

ORPHA:139564Заболевание
Autosomal dominant

Hereditary sensory and autonomic neuropathy type 2

ORPHA:970Заболевание
Autosomal recessive

Hereditary sensory and autonomic neuropathy type 4

ORPHA:642Заболевание
Autosomal recessive

Hereditary sensory and autonomic neuropathy type 5

ORPHA:64752Заболевание
Autosomal recessive

Hereditary sensory and autonomic neuropathy type 6

ORPHA:314381Заболевание
Autosomal recessive

Hereditary sensory and autonomic neuropathy type 7

ORPHA:391397Заболевание
Autosomal dominant

Hereditary sensory and autonomic neuropathy type 8

ORPHA:478664Заболевание
Autosomal recessive

Hereditary sensory and autonomic neuropathy with deafness and global delay

ORPHA:139573Заболевание
Autosomal recessive

Hereditary sensory neuropathy-deafness-dementia syndrome

ORPHA:456318Заболевание
Autosomal dominant

Hereditary sick sinus syndrome

ORPHA:166282Заболевание
Autosomal dominant, Autosomal recessive

Hereditary sodium channelopathy-related small fibers neuropathy

ORPHA:306577Заболевание
Autosomal dominant

Hereditary spastic paraplegia

ORPHA:685Клин. группа
Autosomal dominant, Autosomal recessive, X-linked recessive

Hereditary spherocytosis

ORPHA:822Заболевание
Autosomal dominant, Autosomal recessive

Hereditary steroid-resistant nephrotic syndrome

ORPHA:656Заболевание
Autosomal dominant, Autosomal recessive