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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

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

Terminal osseous dysplasia-pigmentary defects syndrome

ORPHA:88630Порок
X-linked dominant

Tetraamelia-multiple malformations syndrome

ORPHA:3301Порок
Autosomal recessive, X-linked recessive

Tetragametic chimerism syndrome

ORPHA:199310Порок
Not applicable, Unknown

Tetralogy of Fallot

ORPHA:3303Порок
Autosomal dominant, Multigenic/multifactorial

Tetramelic monodactyly

ORPHA:2564Порок
Autosomal dominant

Tetraploidy syndrome

ORPHA:3305Порок

Tetrasomy 18p syndrome

ORPHA:3307Порок
Not applicable

Tetrasomy 21 syndrome

ORPHA:96055Порок

Tetrasomy 5p syndrome

ORPHA:3309Порок

Tetrasomy 9p syndrome

ORPHA:3310Порок

Tetrasomy X syndrome

ORPHA:9Порок

Thakker-Donnai syndrome

ORPHA:1780Порок
Autosomal recessive

Thalidomide embryopathy

ORPHA:3312Порок
Not applicable

Thickened earlobes-conductive deafness syndrome

ORPHA:2405Порок
Autosomal dominant

Thin ribs-tubular bones-dysmorphism syndrome

ORPHA:1506Порок

Thomas syndrome

ORPHA:3316Порок
Autosomal recessive

Thoracic dysplasia-hydrocephalus syndrome

ORPHA:1861Порок

Thoraco-abdominal enteric duplication

ORPHA:1759Порок

Thoracolaryngopelvic dysplasia

ORPHA:3317Порок
Autosomal dominant

Thrombocytopenia-absent radius syndrome

ORPHA:3320Порок
Autosomal recessive

Thumb deformity-alopecia-pigmentation anomaly syndrome

ORPHA:2251Порок

Thumb stiffness-brachydactyly-intellectual disability syndrome

ORPHA:1078Порок
Autosomal dominant

Thymic-renal-anal-lung dysplasia

ORPHA:3326Порок
Autosomal recessive

Thyrocerebrorenal syndrome

ORPHA:3327Порок
Autosomal recessive