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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

Becker nevus syndrome

ORPHA:64755Disease
Not applicable

Behavioral variant of frontotemporal dementia

ORPHA:275864Disease
Autosomal dominant

Behçet disease

ORPHA:117Disease
Multigenic/multifactorial

Benign Samaritan congenital myopathy

ORPHA:324581Disease
Autosomal recessive

Benign cephalic histiocytosis

ORPHA:157997Disease
Not applicable

Benign concentric annular macular dystrophy

ORPHA:251287Disease
Autosomal dominant

Benign epithelial tumor of salivary glands

ORPHA:276148Disease
Not applicable

Benign hereditary chorea

ORPHA:1429Disease
Autosomal dominant

Benign infantile focal epilepsy with midline spikes and waves during sleep

ORPHA:166308Disease

Benign metanephric tumor

ORPHA:464359Disease
Not applicable

Benign nocturnal alternating hemiplegia of childhood

ORPHA:209973Disease
Unknown

Benign paroxysmal tonic upgaze of childhood with ataxia

ORPHA:1179Disease

Benign paroxysmal torticollis of infancy

ORPHA:71518Disease
Autosomal dominant, Not applicable, Unknown

Benign recurrent intrahepatic cholestasis

ORPHA:65682Disease
Autosomal dominant, Autosomal recessive

Benign schwannoma

ORPHA:252164Disease
Not applicable

Bernard-Soulier syndrome

ORPHA:274Disease
Autosomal dominant, Autosomal recessive

Best vitelliform macular dystrophy

ORPHA:1243Disease
Autosomal dominant

Beta-ketothiolase deficiency

ORPHA:134Disease
Autosomal recessive

Beta-mannosidosis

ORPHA:118Disease
Autosomal recessive

Beta-propeller protein-associated neurodegeneration

ORPHA:329284Disease
X-linked dominant

Beta-sarcoglycan-related limb-girdle muscular dystrophy R4

ORPHA:119Disease
Autosomal recessive

Beta-thalassemia intermedia

ORPHA:231222Disease
Autosomal recessive

Beta-thalassemia major

ORPHA:231214Disease
Autosomal recessive

Beta-thalassemia-X-linked thrombocytopenia syndrome

ORPHA:231393Disease
X-linked recessive