Rare (orphan) diseases
The full catalogue of 7,547 diseases with genetics, phenotypes, epidemiology, orphan drugs, and clinical trials.
Genitopatellar syndrome
Autosomal dominant, Autosomal recessive
Childhood
German syndrome
Autosomal recessive
Neonatal
Geroderma osteodysplastica
Autosomal recessive
Neonatal
Ghosal hematodiaphyseal dysplasia
Autosomal recessive
Infancy, Neonatal
Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome
Autosomal dominant
Gingival fibromatosis-facial dysmorphism syndrome
Autosomal recessive
Neonatal
Gingival fibromatosis-hypertrichosis syndrome
Autosomal dominant
Infancy, Neonatal
Gingival fibromatosis-progressive deafness syndrome
Autosomal dominant
Adult
Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
Autosomal recessive
Infancy, Neonatal
Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome
Autosomal dominant
All ages
Global developmental delay-dental enamel defects-ataxia syndrome
Autosomal dominant
Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome
Autosomal recessive
Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome
Autosomal recessive
Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
Not applicable
Infancy
Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
Autosomal dominant
Childhood, Infancy
Global developmental delay-osteopenia-ectodermal defect syndrome
Unknown
Childhood
Global developmental delay-speech apraxia-facial dysmorphism-limb and palpebral anomalies syndrome
Autosomal dominant
Glomuvenous malformation
Autosomal dominant
Adolescent, Adult, Childhood, Infancy, Neonatal
Glossopalatine ankylosis
Not applicable
Infancy, Neonatal
Gnathodiaphyseal dysplasia
Autosomal dominant
Adolescent, Childhood, Infancy
Goldberg-Shprintzen megacolon syndrome
Autosomal recessive
Infancy, Neonatal
Gollop-Wolfgang complex
Autosomal dominant, Autosomal recessive
Antenatal, Neonatal
Gordon syndrome
Autosomal dominant
Antenatal, Neonatal
Gorham-Stout disease
Not applicable
All ages