MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Fingerprint body myopathy

ORPHA:97232Disease

Fish-eye disease

ORPHA:79292Clin. sub.
Autosomal recessive

Fixed drug eruption

ORPHA:293812Disease
Not applicable

Fixed subaortic stenosis

ORPHA:3092Morph.
No data available

Flat face-microstomia-ear anomaly syndrome

ORPHA:1968Malform.
Unknown

Fleck corneal dystrophy

ORPHA:98970Disease
Autosomal dominant

Floating-Harbor syndrome

ORPHA:2044Malform.
Autosomal dominant

Florid cemento-osseous dysplasia

ORPHA:83451Disease
Not applicable

Flynn-Aird syndrome

ORPHA:2047Disease
Autosomal dominant

Focal dermal hypoplasia

ORPHA:2092Malform.
X-linked dominant

Focal epilepsy-intellectual disability-cerebro-cerebellar malformation

ORPHA:352587Disease
Autosomal recessive

Focal facial dermal dysplasia

ORPHA:398166Malform.
Autosomal dominant, Autosomal recessive

Focal facial dermal dysplasia type I

ORPHA:79133Clin. sub.
Autosomal dominant

Focal facial dermal dysplasia type II

ORPHA:398173Clin. sub.
Autosomal dominant

Focal facial dermal dysplasia type III

ORPHA:1807Clin. sub.
Autosomal dominant, Autosomal recessive

Focal facial dermal dysplasia type IV

ORPHA:398189Clin. sub.
Autosomal recessive

Focal myositis

ORPHA:48918Disease
Not applicable

Focal palmoplantar and gingival keratoderma

ORPHA:2200Disease

Focal palmoplantar keratoderma with joint keratoses

ORPHA:370002Disease
Autosomal dominant

Focal stiff limb syndrome

ORPHA:443804Clin. sub.
Not applicable

Focal, segmental or multifocal dystonia

ORPHA:1866Cat.
Autosomal dominant

Foix-Chavany-Marie syndrome

ORPHA:2048Malform.
Not applicable

Folinic acid-responsive seizures

ORPHA:79097Disease
Unknown

Follicular cholangitis and pancreatitis

ORPHA:300552Disease
Unknown