MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов
Найдено 3,968 заболеваний (Заболевание)Сбросить

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

ORPHA:675628Заболевание
X-linked recessive

TMEM165-CDG

ORPHA:314667Заболевание
Autosomal recessive

TMEM199-CDG

ORPHA:466703Заболевание
Autosomal recessive

TMEM70-related mitochondrial encephalo-cardio-myopathy

ORPHA:1194Заболевание
Autosomal recessive

TNP03-related limb-girdle muscular dystrophy D2

ORPHA:55595Заболевание
Autosomal dominant

TOR1AIP1-related limb-girdle muscular dystrophy

ORPHA:424261Заболевание
Autosomal recessive

TRAPPC11-related limb-girdle muscular dystrophy R18

ORPHA:369840Заболевание
Autosomal recessive

TRIM22-related inflammatory bowel disease

ORPHA:597201Заболевание
Autosomal recessive

TRIM32-related limb-girdle muscular dystrophy R8

ORPHA:1878Заболевание
Autosomal recessive

TSH-secreting pituitary adenoma

ORPHA:91347Заболевание

Takayasu arteritis

ORPHA:3287Заболевание
Not applicable

Tako-Tsubo cardiomyopathy

ORPHA:66529Заболевание
Unknown

Talaromycosis

ORPHA:697053Заболевание
Not applicable

Tall stature-long halluces-multiple extra-epiphyses syndrome

ORPHA:329191Заболевание
Autosomal dominant

Tangier disease

ORPHA:31150Заболевание
Autosomal recessive

Tay-Sachs disease

ORPHA:845Заболевание
Autosomal recessive

Telethonin-related limb-girdle muscular dystrophy R7

ORPHA:34514Заболевание
Autosomal recessive

Temple-Baraitser syndrome

ORPHA:420561Заболевание
Autosomal dominant

Tenosynovial giant cell tumor

ORPHA:66627Заболевание
Not applicable

Testicular seminomatous germ cell tumor

ORPHA:842Заболевание
Not applicable

Testicular teratoma

ORPHA:363483Заболевание

Tetanus

ORPHA:3299Заболевание

Thanatophoric dysplasia

ORPHA:2655Заболевание
Autosomal dominant, Not applicable

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

ORPHA:99917Заболевание