Rare (orphan) diseases
The full catalogue of 7,547 diseases with genetics, phenotypes, epidemiology, orphan drugs, and clinical trials.
Frontal encephalocele
Antenatal, Infancy, Neonatal
Frontal fibrosing alopecia
Adult
Frontofacionasal dysplasia
Neonatal
Frontometaphyseal dysplasia
Autosomal dominant, X-linked dominant
Neonatal
Frontonasal dysplasia
Not applicable
Antenatal, Neonatal
Frontonasal dysplasia-alopecia-genital anomalies syndrome
Autosomal recessive
Antenatal, Infancy, Neonatal
Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome
Infancy, Neonatal
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
Autosomal recessive
Antenatal, Neonatal
Frontorhiny
Autosomal recessive
Neonatal
Frontotemporal dementia
Autosomal dominant
Adult
Frontotemporal dementia with motor neuron disease
Autosomal dominant
Adult
Fructose-1,6-bisphosphatase deficiency
Autosomal recessive
All ages
Fryns syndrome
Autosomal recessive
Antenatal, Neonatal
Fryns-Smeets-Thiry syndrome
Childhood
Fuchs endothelial corneal dystrophy
Autosomal dominant, Multigenic/multifactorial, Not applicable
Adult
Fuchs heterochromic iridocyclitis
Adult
Fucosidosis
Autosomal recessive
Childhood, Infancy
Fuhrmann syndrome
Autosomal recessive
Infancy, Neonatal
Fukutin-related limb-girdle muscular dystrophy R13
Autosomal recessive
Infancy
Full NF2-related schwannomatosis
Autosomal dominant
All ages
Full schwannomatosis
Autosomal dominant
Adult, Elderly
Fumaric aciduria
Autosomal recessive
Infancy, Neonatal
Functional variant of Guillain-Barré syndrome
Multigenic/multifactorial, Not applicable
All ages
Functioning gonadotropic adenoma
Adult