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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы

Tetrasomy X syndrome

ORPHA:9Malform.

Thakker-Donnai syndrome

ORPHA:1780Malform.
Autosomal recessive

Thalidomide embryopathy

ORPHA:3312Malform.
Not applicable

Thanatophoric dysplasia

ORPHA:2655Disease
Autosomal dominant, Not applicable

Thanatophoric dysplasia type 1

ORPHA:1860Clin. sub.
Autosomal dominant, Not applicable

Thanatophoric dysplasia type 2

ORPHA:93274Clin. sub.
Autosomal dominant, Not applicable

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

ORPHA:99917Disease

Therapy related acute myeloid leukemia and myelodysplastic syndrome

ORPHA:86846Cat.

Thiamine-responsive encephalopathy

ORPHA:199348Disease
Autosomal recessive

Thiamine-responsive maple syrup urine disease

ORPHA:268184Clin. sub.
Autosomal recessive

Thiamine-responsive megaloblastic anemia syndrome

ORPHA:49827Disease
Autosomal recessive

Thickened earlobes-conductive deafness syndrome

ORPHA:2405Malform.
Autosomal dominant

Thiel-Behnke corneal dystrophy

ORPHA:98960Disease
Autosomal dominant

Thiemann disease, familial form

ORPHA:3314Disease
Not applicable

Thin ribs-tubular bones-dysmorphism syndrome

ORPHA:1506Malform.

Thinking epilepsy

ORPHA:166424Disease

Thomas syndrome

ORPHA:3316Malform.
Autosomal recessive

Thomsen and Becker disease

ORPHA:614Disease
Autosomal dominant, Autosomal recessive

Thoracic dysplasia-hydrocephalus syndrome

ORPHA:1861Malform.

Thoracic outlet syndrome

ORPHA:97330Disease

Thoraco-abdominal enteric duplication

ORPHA:1759Malform.

Thoracolaryngopelvic dysplasia

ORPHA:3317Malform.
Autosomal dominant

Thoracomelic dysplasia

ORPHA:1803Disease

Thrombocythemia with distal limb defects

ORPHA:329319Disease
Autosomal dominant