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

Female infertility due to zona pellucida defect

ORPHA:404466Disease
Autosomal dominant, Autosomal recessive

Ferro-cerebro-cutaneous syndrome

ORPHA:397922Disease
X-linked recessive

Ferroportin disease

ORPHA:648562Disease

Fetal akinesia-cerebral and retinal hemorrhage syndrome

ORPHA:363409Disease
Autosomal recessive

Fetal and neonatal alloimmune thrombocytopenia

ORPHA:853Disease
Not applicable

Fetal cytomegalovirus syndrome

ORPHA:294Disease
Not applicable

Fever-associated acute infantile liver failure syndrome

ORPHA:464724Disease
Autosomal recessive

Fibroblastic rheumatism

ORPHA:477650Disease

Fibrochondrogenesis

ORPHA:2021Disease
Autosomal dominant, Autosomal recessive

Fibrodysplasia ossificans progressiva

ORPHA:337Disease
Autosomal dominant, Not applicable

Fibrolamellar hepatocellular carcinoma

ORPHA:401920Disease
Not applicable

Fibronectin glomerulopathy

ORPHA:84090Disease
Autosomal dominant

Fibrosarcoma

ORPHA:2030Disease
Not applicable

Fibrosis-neurodegeneration-cerebral angiomatosis syndrome

ORPHA:621758Disease

Fingerprint body myopathy

ORPHA:97232Disease

Fixed drug eruption

ORPHA:293812Disease
Not applicable

Fleck corneal dystrophy

ORPHA:98970Disease
Autosomal dominant

Florid cemento-osseous dysplasia

ORPHA:83451Disease
Not applicable

Flynn-Aird syndrome

ORPHA:2047Disease
Autosomal dominant

Focal epilepsy-intellectual disability-cerebro-cerebellar malformation

ORPHA:352587Disease
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

Folinic acid-responsive seizures

ORPHA:79097Disease
Unknown