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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы

Hereditary pheochromocytoma-paraganglioma

ORPHA:29072Disease
Autosomal dominant

Hereditary progressive cardiac conduction defect

ORPHA:871Disease
Autosomal dominant

Hereditary progressive mucinous histiocytosis

ORPHA:158025Disease
Autosomal dominant

Hereditary pulmonary alveolar proteinosis

ORPHA:264675Disease
Autosomal recessive

Hereditary renal hypouricemia

ORPHA:94088Malform.
Autosomal recessive

Hereditary retinoblastoma

ORPHA:357027Clin. sub.
Autosomal dominant

Hereditary sclerosing poikiloderma, Weary type

ORPHA:221039Disease

Hereditary sensorimotor neuropathy with hyperelastic skin

ORPHA:280598Disease
Autosomal dominant

Hereditary sensory and autonomic neuropathy due to TECPR2 mutation

ORPHA:320385Disease
Autosomal recessive

Hereditary sensory and autonomic neuropathy type 1

ORPHA:36386Disease
Autosomal dominant

Hereditary sensory and autonomic neuropathy type 1B

ORPHA:139564Disease
Autosomal dominant

Hereditary sensory and autonomic neuropathy type 2

ORPHA:970Disease
Autosomal recessive

Hereditary sensory and autonomic neuropathy type 4

ORPHA:642Disease
Autosomal recessive

Hereditary sensory and autonomic neuropathy type 5

ORPHA:64752Disease
Autosomal recessive

Hereditary sensory and autonomic neuropathy type 6

ORPHA:314381Disease
Autosomal recessive

Hereditary sensory and autonomic neuropathy type 7

ORPHA:391397Disease
Autosomal dominant

Hereditary sensory and autonomic neuropathy type 8

ORPHA:478664Disease
Autosomal recessive

Hereditary sensory and autonomic neuropathy with deafness and global delay

ORPHA:139573Disease
Autosomal recessive

Hereditary sensory neuropathy-deafness-dementia syndrome

ORPHA:456318Disease
Autosomal dominant

Hereditary sick sinus syndrome

ORPHA:166282Disease
Autosomal dominant, Autosomal recessive

Hereditary sodium channelopathy-related small fibers neuropathy

ORPHA:306577Disease
Autosomal dominant

Hereditary spastic paraplegia

ORPHA:685Clin. grp.
Autosomal dominant, Autosomal recessive, X-linked recessive

Hereditary spherocytosis

ORPHA:822Disease
Autosomal dominant, Autosomal recessive

Hereditary steroid-resistant nephrotic syndrome

ORPHA:656Disease
Autosomal dominant, Autosomal recessive