MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов
Найдено 3,968 заболеваний (Заболевание)Сбросить

Becker nevus syndrome

ORPHA:64755Заболевание
Not applicable

Behavioral variant of frontotemporal dementia

ORPHA:275864Заболевание
Autosomal dominant

Behçet disease

ORPHA:117Заболевание
Multigenic/multifactorial

Benign Samaritan congenital myopathy

ORPHA:324581Заболевание
Autosomal recessive

Benign cephalic histiocytosis

ORPHA:157997Заболевание
Not applicable

Benign concentric annular macular dystrophy

ORPHA:251287Заболевание
Autosomal dominant

Benign epithelial tumor of salivary glands

ORPHA:276148Заболевание
Not applicable

Benign hereditary chorea

ORPHA:1429Заболевание
Autosomal dominant

Benign infantile focal epilepsy with midline spikes and waves during sleep

ORPHA:166308Заболевание

Benign metanephric tumor

ORPHA:464359Заболевание
Not applicable

Benign nocturnal alternating hemiplegia of childhood

ORPHA:209973Заболевание
Unknown

Benign paroxysmal tonic upgaze of childhood with ataxia

ORPHA:1179Заболевание

Benign paroxysmal torticollis of infancy

ORPHA:71518Заболевание
Autosomal dominant, Not applicable, Unknown

Benign recurrent intrahepatic cholestasis

ORPHA:65682Заболевание
Autosomal dominant, Autosomal recessive

Benign schwannoma

ORPHA:252164Заболевание
Not applicable

Bernard-Soulier syndrome

ORPHA:274Заболевание
Autosomal dominant, Autosomal recessive

Best vitelliform macular dystrophy

ORPHA:1243Заболевание
Autosomal dominant

Beta-ketothiolase deficiency

ORPHA:134Заболевание
Autosomal recessive

Beta-mannosidosis

ORPHA:118Заболевание
Autosomal recessive

Beta-propeller protein-associated neurodegeneration

ORPHA:329284Заболевание
X-linked dominant

Beta-sarcoglycan-related limb-girdle muscular dystrophy R4

ORPHA:119Заболевание
Autosomal recessive

Beta-thalassemia intermedia

ORPHA:231222Заболевание
Autosomal recessive

Beta-thalassemia major

ORPHA:231214Заболевание
Autosomal recessive

Beta-thalassemia-X-linked thrombocytopenia syndrome

ORPHA:231393Заболевание
X-linked recessive