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

FRAXE intellectual disability

ORPHA:100973Заболевание
X-linked recessive

FRAXF syndrome

ORPHA:100974Заболевание
Unknown

FTH1-related iron overload

ORPHA:247790Заболевание
Autosomal dominant

Fabry disease

ORPHA:324Заболевание
X-linked dominant, X-linked recessive

Facial dysmorphism-immunodeficiency-livedo-short stature syndrome

ORPHA:352712Заболевание
Autosomal recessive

Facial onset sensory and motor neuronopathy

ORPHA:85162Заболевание
Unknown

Facioscapulohumeral dystrophy

ORPHA:269Заболевание
Autosomal dominant

Factor V short isoforms-related bleeding disorder

ORPHA:599519Заболевание
Autosomal dominant

Familial Alzheimer-like prion disease

ORPHA:280397Заболевание
Autosomal dominant

Familial Chilblain lupus

ORPHA:481662Заболевание
Autosomal dominant

Familial Mediterranean fever

ORPHA:342Заболевание
Autosomal dominant, Autosomal recessive

Familial abdominal aortic aneurysm

ORPHA:86Заболевание

Familial acute necrotizing encephalopathy

ORPHA:88619Заболевание
Autosomal dominant

Familial adenomatous polyposis

ORPHA:733Заболевание
Autosomal dominant, Autosomal recessive

Familial adrenal hypoplasia with absent pituitary luteinizing hormone

ORPHA:95700Заболевание
Autosomal recessive

Familial adult myoclonic epilepsy

ORPHA:86814Заболевание
Autosomal dominant

Familial advanced sleep-phase syndrome

ORPHA:164736Заболевание
Autosomal dominant

Familial anetoderma

ORPHA:228277Заболевание
Autosomal dominant, Autosomal recessive

Familial aortic dissection

ORPHA:229Заболевание

Familial articular hypermobility syndrome

ORPHA:2295Заболевание
Autosomal dominant

Familial atrial myxoma

ORPHA:615Заболевание
Autosomal dominant

Familial atypical multiple mole melanoma syndrome

ORPHA:404560Заболевание
Autosomal dominant

Familial avascular necrosis of femoral head

ORPHA:86820Заболевание
Autosomal dominant

Familial benign copper deficiency

ORPHA:1551Заболевание