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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

Fountain syndrome

ORPHA:3219Порок
Autosomal recessive

Fowler vasculopathy

ORPHA:221126Порок
Autosomal recessive

Fragile X syndrome

ORPHA:908Порок
X-linked dominant

Fragile X-associated tremor/ataxia syndrome

ORPHA:93256Порок
X-linked dominant

Fraser syndrome

ORPHA:2052Порок
Autosomal recessive

Freeman-Sheldon syndrome

ORPHA:2053Порок
Autosomal dominant, Autosomal recessive

Fried syndrome

ORPHA:85335Порок
X-linked recessive

Fried's tooth and nail syndrome

ORPHA:99672Порок

Frontofacionasal dysplasia

ORPHA:1791Порок

Frontonasal dysplasia-alopecia-genital anomalies syndrome

ORPHA:228390Порок
Autosomal recessive

Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome

ORPHA:521308Порок

Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome

ORPHA:306542Порок
Autosomal recessive

Frontorhiny

ORPHA:391474Порок
Autosomal recessive

Fryns syndrome

ORPHA:2059Порок
Autosomal recessive

Fryns-Smeets-Thiry syndrome

ORPHA:2058Порок

Fuhrmann syndrome

ORPHA:2854Порок
Autosomal recessive

GAPO syndrome

ORPHA:2067Порок
Autosomal recessive

GMS syndrome

ORPHA:2090Порок

Gabriele-de Vries syndrome

ORPHA:506358Порок
Autosomal dominant

Galloway-Mowat syndrome

ORPHA:2065Порок
Autosomal recessive, X-linked recessive

Gastrointestinal tract arteriovenous malformation

ORPHA:693832Порок
Not applicable

Geleophysic dysplasia

ORPHA:2623Порок
Autosomal dominant, Autosomal recessive

Gemignani syndrome

ORPHA:2074Порок
Autosomal recessive

Genitopalatocardiac syndrome

ORPHA:2075Порок