Rare (orphan) diseases
The full catalogue of 7,547 diseases with genetics, phenotypes, epidemiology, orphan drugs, and clinical trials.
Fountain syndrome
Autosomal recessive
Infancy, Neonatal
Fowler vasculopathy
Autosomal recessive
Antenatal, Neonatal
Fragile X syndrome
X-linked dominant
Childhood, Infancy, Neonatal
Fragile X-associated tremor/ataxia syndrome
X-linked dominant
Adult
Fraser syndrome
Autosomal recessive
Antenatal, Neonatal
Freeman-Sheldon syndrome
Autosomal dominant, Autosomal recessive
Antenatal, Neonatal
Fried syndrome
X-linked recessive
Infancy, Neonatal
Fried's tooth and nail syndrome
Antenatal, Infancy, Neonatal
Frontofacionasal dysplasia
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
Fryns syndrome
Autosomal recessive
Antenatal, Neonatal
Fryns-Smeets-Thiry syndrome
Childhood
Fuhrmann syndrome
Autosomal recessive
Infancy, Neonatal
GAPO syndrome
Autosomal recessive
Neonatal
GMS syndrome
Neonatal
Gabriele-de Vries syndrome
Autosomal dominant
Antenatal, Neonatal
Galloway-Mowat syndrome
Autosomal recessive, X-linked recessive
Childhood, Infancy, Neonatal
Gastrointestinal tract arteriovenous malformation
Not applicable
Geleophysic dysplasia
Autosomal dominant, Autosomal recessive
Childhood
Gemignani syndrome
Autosomal recessive
Adult
Genitopalatocardiac syndrome
Antenatal, Neonatal