MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
3,968 diseases matched (Disease) Reset

FRAXE intellectual disability

ORPHA:100973Disease
X-linked recessive

FRAXF syndrome

ORPHA:100974Disease
Unknown

FTH1-related iron overload

ORPHA:247790Disease
Autosomal dominant

Fabry disease

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

Facial dysmorphism-immunodeficiency-livedo-short stature syndrome

ORPHA:352712Disease
Autosomal recessive

Facial onset sensory and motor neuronopathy

ORPHA:85162Disease
Unknown

Facioscapulohumeral dystrophy

ORPHA:269Disease
Autosomal dominant

Factor V short isoforms-related bleeding disorder

ORPHA:599519Disease
Autosomal dominant

Familial Alzheimer-like prion disease

ORPHA:280397Disease
Autosomal dominant

Familial Chilblain lupus

ORPHA:481662Disease
Autosomal dominant

Familial Mediterranean fever

ORPHA:342Disease
Autosomal dominant, Autosomal recessive

Familial abdominal aortic aneurysm

ORPHA:86Disease

Familial acute necrotizing encephalopathy

ORPHA:88619Disease
Autosomal dominant

Familial adenomatous polyposis

ORPHA:733Disease
Autosomal dominant, Autosomal recessive

Familial adrenal hypoplasia with absent pituitary luteinizing hormone

ORPHA:95700Disease
Autosomal recessive

Familial adult myoclonic epilepsy

ORPHA:86814Disease
Autosomal dominant

Familial advanced sleep-phase syndrome

ORPHA:164736Disease
Autosomal dominant

Familial anetoderma

ORPHA:228277Disease
Autosomal dominant, Autosomal recessive

Familial aortic dissection

ORPHA:229Disease

Familial articular hypermobility syndrome

ORPHA:2295Disease
Autosomal dominant

Familial atrial myxoma

ORPHA:615Disease
Autosomal dominant

Familial atypical multiple mole melanoma syndrome

ORPHA:404560Disease
Autosomal dominant

Familial avascular necrosis of femoral head

ORPHA:86820Disease
Autosomal dominant

Familial benign copper deficiency

ORPHA:1551Disease