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Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Tetrasomy X syndrome

ORPHA:9Мальф.

Thakker-Donnai syndrome

ORPHA:1780Мальф.
Autosomal recessive

Thalidomide embryopathy

ORPHA:3312Мальф.
Not applicable

Thanatophoric dysplasia

ORPHA:2655Ауру
Autosomal dominant, Not applicable

Thanatophoric dysplasia type 1

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

Thanatophoric dysplasia type 2

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

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

ORPHA:99917Ауру

Therapy related acute myeloid leukemia and myelodysplastic syndrome

ORPHA:86846Сан.

Thiamine-responsive encephalopathy

ORPHA:199348Ауру
Autosomal recessive

Thiamine-responsive maple syrup urine disease

ORPHA:268184Клин. под.
Autosomal recessive

Thiamine-responsive megaloblastic anemia syndrome

ORPHA:49827Ауру
Autosomal recessive

Thickened earlobes-conductive deafness syndrome

ORPHA:2405Мальф.
Autosomal dominant

Thiel-Behnke corneal dystrophy

ORPHA:98960Ауру
Autosomal dominant

Thiemann disease, familial form

ORPHA:3314Ауру
Not applicable

Thin ribs-tubular bones-dysmorphism syndrome

ORPHA:1506Мальф.

Thinking epilepsy

ORPHA:166424Ауру

Thomas syndrome

ORPHA:3316Мальф.
Autosomal recessive

Thomsen and Becker disease

ORPHA:614Ауру
Autosomal dominant, Autosomal recessive

Thoracic dysplasia-hydrocephalus syndrome

ORPHA:1861Мальф.

Thoracic outlet syndrome

ORPHA:97330Ауру

Thoraco-abdominal enteric duplication

ORPHA:1759Мальф.

Thoracolaryngopelvic dysplasia

ORPHA:3317Мальф.
Autosomal dominant

Thoracomelic dysplasia

ORPHA:1803Ауру

Thrombocythemia with distal limb defects

ORPHA:329319Ауру
Autosomal dominant