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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы
Найдено 3,968 заболеваний (Disease) Сброс

Fumaric aciduria

ORPHA:24Disease
Autosomal recessive

Functioning gonadotropic adenoma

ORPHA:91348Disease

Fundus albipunctatus

ORPHA:227796Disease
Autosomal dominant, Autosomal recessive

Fungal myositis

ORPHA:207000Disease

Furuncular myiasis

ORPHA:591Disease
Not applicable

Fusariosis

ORPHA:228119Disease
Not applicable

GATA2 deficiency spectrum

ORPHA:228423Disease
Autosomal dominant, Not applicable

GCGR-related hyperglucagonemia

ORPHA:438274Disease
Autosomal recessive

GJC2-related late-onset primary lymphedema

ORPHA:568051Disease
Autosomal dominant

GM1 gangliosidosis

ORPHA:354Disease
Autosomal recessive

GM2 gangliosidosis, AB variant

ORPHA:309246Disease
Autosomal recessive

GM3 synthase deficiency

ORPHA:370933Disease
Autosomal recessive

GMPPB-related limb-girdle muscular dystrophy R19

ORPHA:363623Disease
Autosomal recessive

GNAO1-related developmental delay-seizures-movement disorder spectrum

ORPHA:592564Disease
Autosomal dominant

GNB5-related intellectual disability-cardiac arrhythmia syndrome

ORPHA:542306Disease
Autosomal recessive

GNE myopathy

ORPHA:602Disease
Autosomal dominant, Autosomal recessive

GRACILE syndrome

ORPHA:53693Disease
Autosomal recessive

GRFoma

ORPHA:97261Disease
Not applicable

GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder

ORPHA:589547Disease
Autosomal dominant

Gaisböck syndrome

ORPHA:90041Disease

Galactokinase deficiency

ORPHA:79237Disease
Autosomal recessive

Galactose epimerase deficiency

ORPHA:79238Disease
Autosomal recessive

Galactose mutarotase deficiency

ORPHA:570422Disease
Autosomal recessive

Galactosialidosis

ORPHA:351Disease
Autosomal recessive