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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
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