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
Wound botulism
All ages
X-linked Emery-Dreifuss muscular dystrophy
X-linked recessive
Childhood
X-linked hypohidrotic ectodermal dysplasia
X-linked recessive
Childhood, Infancy
X-linked non-syndromic intellectual disability
X-linked recessive
Childhood, Infancy
X-linked thrombocytopenia with normal platelets
X-linked recessive
Xanthinuria type I
Autosomal recessive
Xanthinuria type II
Autosomal recessive
ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion
Autosomal dominant
ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to a point mutation
Autosomal dominant