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База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы

Tetrasomy X syndrome

ORPHA:9Порок

Thakker-Donnai syndrome

ORPHA:1780Порок
Autosomal recessive

Thalidomide embryopathy

ORPHA:3312Порок
Not applicable

Thanatophoric dysplasia

ORPHA:2655Заболевание
Autosomal dominant, Not applicable

Thanatophoric dysplasia type 1

ORPHA:1860Клин. подт.
Autosomal dominant, Not applicable

Thanatophoric dysplasia type 2

ORPHA:93274Клин. подт.
Autosomal dominant, Not applicable

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

ORPHA:99917Заболевание

Therapy related acute myeloid leukemia and myelodysplastic syndrome

ORPHA:86846Кат.

Thiamine-responsive encephalopathy

ORPHA:199348Заболевание
Autosomal recessive

Thiamine-responsive maple syrup urine disease

ORPHA:268184Клин. подт.
Autosomal recessive

Thiamine-responsive megaloblastic anemia syndrome

ORPHA:49827Заболевание
Autosomal recessive

Thickened earlobes-conductive deafness syndrome

ORPHA:2405Порок
Autosomal dominant

Thiel-Behnke corneal dystrophy

ORPHA:98960Заболевание
Autosomal dominant

Thiemann disease, familial form

ORPHA:3314Заболевание
Not applicable

Thin ribs-tubular bones-dysmorphism syndrome

ORPHA:1506Порок

Thinking epilepsy

ORPHA:166424Заболевание

Thomas syndrome

ORPHA:3316Порок
Autosomal recessive

Thomsen and Becker disease

ORPHA:614Заболевание
Autosomal dominant, Autosomal recessive

Thoracic dysplasia-hydrocephalus syndrome

ORPHA:1861Порок

Thoracic outlet syndrome

ORPHA:97330Заболевание

Thoraco-abdominal enteric duplication

ORPHA:1759Порок

Thoracolaryngopelvic dysplasia

ORPHA:3317Порок
Autosomal dominant

Thoracomelic dysplasia

ORPHA:1803Заболевание

Thrombocythemia with distal limb defects

ORPHA:329319Заболевание
Autosomal dominant