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

Follicular cholangitis and pancreatitis

ORPHA:300552Disease
Unknown

Follicular dendritic cell sarcoma

ORPHA:86902Disease

Follicular lymphoma

ORPHA:545Disease
Multigenic/multifactorial, Not applicable

Folliculotropic mycosis fungoides

ORPHA:178512Disease
Not applicable

Fontan-associated liver disease

ORPHA:699068Disease
Not applicable

Formiminoglutamic aciduria

ORPHA:51208Disease
Autosomal recessive

Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome

ORPHA:397618Disease
Autosomal recessive

Foveal hypoplasia-presenile cataract syndrome

ORPHA:2253Disease
Autosomal dominant

Fowler urethral sphincter dysfunction syndrome

ORPHA:2795Disease
Unknown

Fragile X-associated primary ovarian insufficiency

ORPHA:642691Disease

Frank-Ter Haar syndrome

ORPHA:137834Disease
Autosomal recessive

Frasier syndrome

ORPHA:347Disease
Autosomal dominant

Free sialic acid storage disease

ORPHA:834Disease
Autosomal recessive

Friedreich ataxia

ORPHA:95Disease
Autosomal recessive

Frontal fibrosing alopecia

ORPHA:254492Disease

Frontometaphyseal dysplasia

ORPHA:1826Disease
Autosomal dominant, X-linked dominant

Frontotemporal dementia with motor neuron disease

ORPHA:275872Disease
Autosomal dominant

Fructose-1,6-bisphosphatase deficiency

ORPHA:348Disease
Autosomal recessive

Fuchs endothelial corneal dystrophy

ORPHA:98974Disease
Autosomal dominant, Multigenic/multifactorial, Not applicable

Fuchs heterochromic iridocyclitis

ORPHA:263479Disease

Fucosidosis

ORPHA:349Disease
Autosomal recessive

Fukutin-related limb-girdle muscular dystrophy R13

ORPHA:206554Disease
Autosomal recessive

Full NF2-related schwannomatosis

ORPHA:637Disease
Autosomal dominant

Full schwannomatosis

ORPHA:93921Disease
Autosomal dominant