Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
FLNA-related X-linked myxomatous valvular dysplasia
X-linked recessive
Neonatal
Familial bicuspid aortic valve
Autosomal dominant
Infancy, Neonatal
Familial cavitary optic disc anomaly
Autosomal dominant
Adolescent, Adult
Familial congenital nasolacrimal duct obstruction
Autosomal recessive
Antenatal, Neonatal
Familial idiopathic dilatation of the right atrium
Unknown
All ages
Familial intestinal malrotation
All ages
Familial isolated congenital asplenia
Autosomal dominant
Familial juvenile hypertrophy of the breast
Not applicable
Familial mitral valve prolapse
Autosomal dominant
Familial multiple nevi flammei
Autosomal dominant
Neonatal
Familial patent arterial duct
Autosomal dominant
Familial pterygium of the conjunctiva
Autosomal dominant
Adolescent, Adult
Familial supernumerary nipples
Infancy, Neonatal
Familial thyroglossal duct cyst
Infancy, Neonatal
Fixed subaortic stenosis
No data available
Childhood
Fused mandibular incisors
Adolescent, Adult, Childhood
Gastroschisis
Not applicable
Antenatal
Glioependymal/ependymal cyst
Infancy, Neonatal
Hypoplastic left heart syndrome
Unknown
Antenatal, Neonatal
Idiopathic camptocormia
Not applicable
Adult, Elderly
Idiopathic isolated micropenis
Neonatal
Iniencephaly
Multigenic/multifactorial, Not applicable
Infancy, Neonatal
Interatrial communication
Autosomal dominant, Not applicable
Adolescent, Adult, Childhood, Elderly
Internal carotid absence
Not applicable
All ages