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Редкие (орфанные) заболевания
Полная база 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, препаратами и исследованиями.
7,547
Заболевания
4 552
Гены
8 700
Фенотипы
140
Регионы
Все (7,547)Bio anomalyCategoryClinical groupClinical subtypeClinical syndromeDiseaseEtiological subtypeHistopathological subtypeMalformationMorphological anomalyClinical situation
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