Редкие (орфанные) заболевания
Полная база 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, препаратами и исследованиями.
X-linked erythropoietic protoporphyria
X-linked dominant
Childhood
X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
X-linked recessive
Neonatal
X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
X-linked dominant
Antenatal, Infancy, Neonatal
X-linked hereditary sensory and autonomic neuropathy with deafness
X-linked recessive
Childhood
X-linked hyper-IgM syndrome
X-linked recessive
X-linked hypohidrotic ectodermal dysplasia
X-linked recessive
Childhood, Infancy
X-linked hypophosphatemia
X-linked dominant
Childhood, Infancy
X-linked ichthyosis syndrome
Not applicable, X-linked dominant, X-linked recessive
X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency
X-linked recessive
Infancy
X-linked immunoneurologic disorder
X-linked dominant
Infancy, Neonatal
X-linked intellectual disability due to GRIA3 mutations
X-linked recessive
Infancy
X-linked intellectual disability with isolated growth hormone deficiency
X-linked recessive
Infancy, Neonatal
X-linked intellectual disability, Abidi type
X-linked recessive
Childhood
X-linked intellectual disability, Armfield type
X-linked recessive
Infancy, Neonatal
X-linked intellectual disability, Cabezas type
X-linked recessive
Childhood
X-linked intellectual disability, Cantagrel type
X-linked recessive
Infancy, Neonatal
X-linked intellectual disability, Cilliers type
X-linked recessive
Infancy, Neonatal
X-linked intellectual disability, Golabi-Ito-Hall type
X-linked recessive
Infancy, Neonatal
X-linked intellectual disability, Hedera type
X-linked recessive
Infancy
X-linked intellectual disability, Najm type
X-linked dominant
Infancy, Neonatal
X-linked intellectual disability, Nascimento type
X-linked recessive
Infancy
X-linked intellectual disability, Pai type
X-linked recessive
Childhood, Infancy
X-linked intellectual disability, Porteous type
X-linked recessive
Infancy
X-linked intellectual disability, Schimke type
X-linked recessive
Infancy, Neonatal