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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы
Найдено 1,772 заболеваний (Malform.) Сброс

Terminal osseous dysplasia-pigmentary defects syndrome

ORPHA:88630Malform.
X-linked dominant

Tetraamelia-multiple malformations syndrome

ORPHA:3301Malform.
Autosomal recessive, X-linked recessive

Tetragametic chimerism syndrome

ORPHA:199310Malform.
Not applicable, Unknown

Tetralogy of Fallot

ORPHA:3303Malform.
Autosomal dominant, Multigenic/multifactorial

Tetramelic monodactyly

ORPHA:2564Malform.
Autosomal dominant

Tetraploidy syndrome

ORPHA:3305Malform.

Tetrasomy 18p syndrome

ORPHA:3307Malform.
Not applicable

Tetrasomy 21 syndrome

ORPHA:96055Malform.

Tetrasomy 5p syndrome

ORPHA:3309Malform.

Tetrasomy 9p syndrome

ORPHA:3310Malform.

Tetrasomy X syndrome

ORPHA:9Malform.

Thakker-Donnai syndrome

ORPHA:1780Malform.
Autosomal recessive

Thalidomide embryopathy

ORPHA:3312Malform.
Not applicable

Thickened earlobes-conductive deafness syndrome

ORPHA:2405Malform.
Autosomal dominant

Thin ribs-tubular bones-dysmorphism syndrome

ORPHA:1506Malform.

Thomas syndrome

ORPHA:3316Malform.
Autosomal recessive

Thoracic dysplasia-hydrocephalus syndrome

ORPHA:1861Malform.

Thoraco-abdominal enteric duplication

ORPHA:1759Malform.

Thoracolaryngopelvic dysplasia

ORPHA:3317Malform.
Autosomal dominant

Thrombocytopenia-absent radius syndrome

ORPHA:3320Malform.
Autosomal recessive

Thumb deformity-alopecia-pigmentation anomaly syndrome

ORPHA:2251Malform.

Thumb stiffness-brachydactyly-intellectual disability syndrome

ORPHA:1078Malform.
Autosomal dominant

Thymic-renal-anal-lung dysplasia

ORPHA:3326Malform.
Autosomal recessive

Thyrocerebrorenal syndrome

ORPHA:3327Malform.
Autosomal recessive