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
X-linked congenital generalized hypertrichosis
X-linked dominant
X-linked hyper-IgM syndrome
X-linked recessive
X-linked intellectual disability with isolated growth hormone deficiency
X-linked recessive
Infancy, Neonatal
X-linked intellectual disability, Golabi-Ito-Hall type
X-linked recessive
Infancy, Neonatal
X-linked intellectual disability, Porteous type
X-linked recessive
Infancy
X-linked intellectual disability, Sutherland-Haan type
X-linked recessive
Antenatal, Infancy, Neonatal
Zygodactyly type 3
Autosomal dominant