Orphanet Database • Orphadata CC-BY-4.0
Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
7,547
Заболеваний
4 552
Генов
8 700
Фенотипов
140
Регионов
Все (7,547)Biological anomalyCategoryClinical groupClinical subtypeClinical syndromeDiseaseEtiological subtypeHistopathological subtypeMalformation syndromeMorphological anomalyParticular clinical situation in a disease or syndrome
8q24.3 microdeletion syndrome
Not applicable
Antenatal, Neonatal
9p13 microdeletion syndrome
Not applicable, Unknown
Infancy, Neonatal
9p23p22.2 microdeletion syndrome
9q21.13 microdeletion syndrome
Not applicable
Childhood, Infancy
9q31.1q31.3 microdeletion syndrome
Unknown
Neonatal
9q33.3q34.11 microdeletion syndrome
Not applicable
Childhood, Infancy
AA amyloidosis
Not applicable
Adolescent, Adult, Childhood
AApoAI amyloidosis
Autosomal dominant
AApoAII amyloidosis
Autosomal dominant
AApoAIV amyloidosis
Not applicable
Adult
ABeta amyloidosis, Arctic type
Autosomal dominant
Adult, Elderly
ABeta amyloidosis, Dutch type
Autosomal dominant
Adult
ABeta amyloidosis, Iowa type
Autosomal dominant
Elderly
ABeta amyloidosis, Italian type
Autosomal dominant
Adult, Elderly
ABeta2M amyloidosis
Adult
ABetaA21G amyloidosis
Autosomal dominant
Adult
ABetaL34V amyloidosis
Autosomal dominant
Adult, Elderly
ABri amyloidosis
Autosomal dominant
Adult
ACTH-dependent Cushing syndrome
ACys amyloidosis
Autosomal dominant
Adolescent, Adult
ADAR-related hereditary spastic paraplegia
Autosomal dominant
ADULT syndrome
Autosomal dominant
Antenatal, Neonatal
ADan amyloidosis
Autosomal dominant
AFib amyloidosis
Autosomal dominant