Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
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