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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

TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome

ORPHA:675628Disease
X-linked recessive

TMEM165-CDG

ORPHA:314667Disease
Autosomal recessive

TMEM199-CDG

ORPHA:466703Disease
Autosomal recessive

TMEM70-related mitochondrial encephalo-cardio-myopathy

ORPHA:1194Disease
Autosomal recessive

TNP03-related limb-girdle muscular dystrophy D2

ORPHA:55595Disease
Autosomal dominant

TOR1AIP1-related limb-girdle muscular dystrophy

ORPHA:424261Disease
Autosomal recessive

TRAPPC11-related limb-girdle muscular dystrophy R18

ORPHA:369840Disease
Autosomal recessive

TRIM22-related inflammatory bowel disease

ORPHA:597201Disease
Autosomal recessive

TRIM32-related limb-girdle muscular dystrophy R8

ORPHA:1878Disease
Autosomal recessive

TSH-secreting pituitary adenoma

ORPHA:91347Disease

Takayasu arteritis

ORPHA:3287Disease
Not applicable

Tako-Tsubo cardiomyopathy

ORPHA:66529Disease
Unknown

Talaromycosis

ORPHA:697053Disease
Not applicable

Tall stature-long halluces-multiple extra-epiphyses syndrome

ORPHA:329191Disease
Autosomal dominant

Tangier disease

ORPHA:31150Disease
Autosomal recessive

Tay-Sachs disease

ORPHA:845Disease
Autosomal recessive

Telethonin-related limb-girdle muscular dystrophy R7

ORPHA:34514Disease
Autosomal recessive

Temple-Baraitser syndrome

ORPHA:420561Disease
Autosomal dominant

Tenosynovial giant cell tumor

ORPHA:66627Disease
Not applicable

Testicular seminomatous germ cell tumor

ORPHA:842Disease
Not applicable

Testicular teratoma

ORPHA:363483Disease

Tetanus

ORPHA:3299Disease

Thanatophoric dysplasia

ORPHA:2655Disease
Autosomal dominant, Not applicable

Theca steroid-producing cell malignant tumor of ovary, not further specified

ORPHA:99917Disease