Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
Autosomal recessive
Childhood
Athyreosis
Autosomal dominant
Infancy, Neonatal
Atkin-Flaitz syndrome
X-linked dominant
Neonatal
Atopic keratoconjunctivitis
Not applicable
All ages
Atresia of urethra
Not applicable
Antenatal, Neonatal
Atrial septal defect, coronary sinus type
Antenatal, Infancy, Neonatal
Atrial septal defect, ostium primum type
Autosomal dominant, Not applicable
Antenatal, Infancy, Neonatal
Atrial septal defect, ostium secundum type
Autosomal dominant, Not applicable
Antenatal, Infancy, Neonatal
Atrial septal defect, sinus venosus type
Autosomal dominant, Not applicable
Antenatal, Infancy, Neonatal
Atrial septal defect-atrioventricular conduction defects syndrome
Autosomal dominant
No data available
Atrichia with papular lesions
Autosomal recessive
Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
Neonatal
Atrophic lichen planus
All ages
Atrophic papulosis
Adult
Atrophoderma of Pasini and Pierini
Adult
Atrophoderma vermiculata
Autosomal recessive, Unknown
Childhood
Attenuated Chédiak-Higashi syndrome
Autosomal recessive
Childhood
Attenuated familial adenomatous polyposis
Autosomal dominant, Autosomal recessive
Adult
Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome
Autosomal dominant
Neonatal
Atypical Gaucher disease due to saposin C deficiency
Autosomal recessive
Atypical Meigs syndrome
Not applicable
Adult
Atypical Norrie disease due to Xp11.3 microdeletion
Not applicable
Neonatal
Atypical Rett syndrome
Autosomal dominant, X-linked dominant
Neonatal
Atypical Timothy syndrome
Autosomal dominant
Antenatal, Neonatal