MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

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

Foodborne botulism

ORPHA:228371Clin. sub.

Formiminoglutamic aciduria

ORPHA:51208Disease
Autosomal recessive

Fountain syndrome

ORPHA:3219Malform.
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

Fowler vasculopathy

ORPHA:221126Malform.
Autosomal recessive

Fragile X syndrome

ORPHA:908Malform.
X-linked dominant

Fragile X-associated primary ovarian insufficiency

ORPHA:642691Disease

Fragile X-associated tremor/ataxia syndrome

ORPHA:93256Malform.
X-linked dominant

Frank-Ter Haar syndrome

ORPHA:137834Disease
Autosomal recessive

Fraser syndrome

ORPHA:2052Malform.
Autosomal recessive

Frasier syndrome

ORPHA:347Disease
Autosomal dominant

Free sialic acid storage disease

ORPHA:834Disease
Autosomal recessive

Free sialic acid storage disease, infantile form

ORPHA:309324Clin. sub.
Autosomal recessive

Freeman-Sheldon syndrome

ORPHA:2053Malform.
Autosomal dominant, Autosomal recessive

Frey syndrome

ORPHA:662240Clinical syndrome
Not applicable

Fried syndrome

ORPHA:85335Malform.
X-linked recessive

Fried's tooth and nail syndrome

ORPHA:99672Malform.

Friedreich ataxia

ORPHA:95Disease
Autosomal recessive