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База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

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

Tibial aplasia-ectrodactyly syndrome

ORPHA:3329Порок
Autosomal dominant

Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome

ORPHA:988Порок
Autosomal dominant, Autosomal recessive

Tietz syndrome

ORPHA:42665Порок
Autosomal dominant

Timothy syndrome

ORPHA:65283Порок
Autosomal dominant

Toluene embryopathy

ORPHA:1920Порок
Not applicable

Toriello-Carey syndrome

ORPHA:3338Порок
Autosomal recessive

Torticollis-keloids-cryptorchidism-renal dysplasia syndrome

ORPHA:3341Порок
X-linked dominant

Townes-Brocks syndrome

ORPHA:857Порок
Autosomal dominant

Transketolase deficiency

ORPHA:488618Порок
Autosomal recessive

Treacher-Collins syndrome

ORPHA:861Порок
Autosomal dominant, Autosomal recessive

Tricho-dento-osseous syndrome

ORPHA:3352Порок
Autosomal dominant

Tricho-retino-dento-digital syndrome

ORPHA:1264Порок
Autosomal dominant

Trichodental syndrome

ORPHA:3351Порок
Autosomal dominant

Trichodermodysplasia-dental alterations syndrome

ORPHA:3353Порок

Trichodysplasia-amelogenesis imperfecta syndrome

ORPHA:79129Порок
X-linked recessive

Trichodysplasia-xeroderma syndrome

ORPHA:3361Порок

Trichomegaly-retina pigmentary degeneration-dwarfism syndrome

ORPHA:3363Порок
Autosomal recessive

Trichoodontoonychial dysplasia

ORPHA:3355Порок
Autosomal recessive

Trichorhinophalangeal syndrome type 1

ORPHA:77258Порок
Autosomal dominant

Trichorhinophalangeal syndrome type 2

ORPHA:502Порок
Autosomal dominant

Trigonocephaly-bifid nose-acral anomalies syndrome

ORPHA:3368Порок
Unknown

Trigonocephaly-broad thumbs syndrome

ORPHA:3365Порок
Autosomal dominant

Trigonocephaly-short stature-developmental delay syndrome

ORPHA:3369Порок
Unknown

Triphalangeal thumbs-brachyectrodactyly syndrome

ORPHA:2947Порок
Autosomal dominant