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Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Hereditary pheochromocytoma-paraganglioma

ORPHA:29072Ауру
Autosomal dominant

Hereditary progressive cardiac conduction defect

ORPHA:871Ауру
Autosomal dominant

Hereditary progressive mucinous histiocytosis

ORPHA:158025Ауру
Autosomal dominant

Hereditary pulmonary alveolar proteinosis

ORPHA:264675Ауру
Autosomal recessive

Hereditary renal hypouricemia

ORPHA:94088Мальф.
Autosomal recessive

Hereditary retinoblastoma

ORPHA:357027Клин. под.
Autosomal dominant

Hereditary sclerosing poikiloderma, Weary type

ORPHA:221039Ауру

Hereditary sensorimotor neuropathy with hyperelastic skin

ORPHA:280598Ауру
Autosomal dominant

Hereditary sensory and autonomic neuropathy due to TECPR2 mutation

ORPHA:320385Ауру
Autosomal recessive

Hereditary sensory and autonomic neuropathy type 1

ORPHA:36386Ауру
Autosomal dominant

Hereditary sensory and autonomic neuropathy type 1B

ORPHA:139564Ауру
Autosomal dominant

Hereditary sensory and autonomic neuropathy type 2

ORPHA:970Ауру
Autosomal recessive

Hereditary sensory and autonomic neuropathy type 4

ORPHA:642Ауру
Autosomal recessive

Hereditary sensory and autonomic neuropathy type 5

ORPHA:64752Ауру
Autosomal recessive

Hereditary sensory and autonomic neuropathy type 6

ORPHA:314381Ауру
Autosomal recessive

Hereditary sensory and autonomic neuropathy type 7

ORPHA:391397Ауру
Autosomal dominant

Hereditary sensory and autonomic neuropathy type 8

ORPHA:478664Ауру
Autosomal recessive

Hereditary sensory and autonomic neuropathy with deafness and global delay

ORPHA:139573Ауру
Autosomal recessive

Hereditary sensory neuropathy-deafness-dementia syndrome

ORPHA:456318Ауру
Autosomal dominant

Hereditary sick sinus syndrome

ORPHA:166282Ауру
Autosomal dominant, Autosomal recessive

Hereditary sodium channelopathy-related small fibers neuropathy

ORPHA:306577Ауру
Autosomal dominant

Hereditary spastic paraplegia

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

Hereditary spherocytosis

ORPHA:822Ауру
Autosomal dominant, Autosomal recessive

Hereditary steroid-resistant nephrotic syndrome

ORPHA:656Ауру
Autosomal dominant, Autosomal recessive