Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Duchenne and Becker muscular dystrophy
X-linked recessive
Adolescent, Adult, Childhood
Duchenne muscular dystrophy
X-linked recessive
Childhood
Duodenal atresia
Unknown
Antenatal, Childhood, Infancy, Neonatal
Duplication of the pituitary gland
Not applicable
Infancy, Neonatal
Duplication of urethra
Infancy, Neonatal
Dural sinus malformation with arteriovenous shunt
Antenatal, Infancy, Neonatal
Dyggve-Melchior-Clausen disease
Autosomal recessive
Infancy
Dysbetalipoproteinemia
Autosomal dominant, Multigenic/multifactorial
Adolescent, Adult, Childhood, Elderly
Dyschromatosis symmetrica hereditaria
Autosomal dominant
Childhood
Dyschromatosis universalis hereditaria
Autosomal dominant, Autosomal recessive
Childhood, Infancy
Dysembryoplastic neuroepithelial tumor
Not applicable
All ages
Dysequilibrium syndrome
Autosomal recessive
Neonatal
Dysferlin-related limb-girdle muscular dystrophy R2
Autosomal recessive
Adolescent, Adult
Dyskeratosis congenita
Autosomal dominant, Autosomal recessive, X-linked recessive
Adolescent, Adult, Childhood, Infancy, Neonatal
Dysmorphism-cleft palate-loose skin syndrome
Antenatal, Neonatal
Dysmorphism-conductive hearing loss-heart defect syndrome
Autosomal dominant
Infancy, Neonatal
Dysmorphism-pectus carinatum-joint laxity syndrome
Unknown
Infancy, Neonatal
Dysmorphism-short stature-deafness-difference of sex development syndrome
Autosomal recessive
Infancy, Neonatal
Dysosteosclerosis
Autosomal recessive, X-linked recessive
Infancy, Neonatal
Dysostosis with brachydactyly
Autosomal dominant, Autosomal recessive, X-linked recessive
Infancy, Neonatal
Dysplasia epiphysealis hemimelica
Autosomal dominant
Adolescent, Childhood
Dysplasia of head of femur, Meyer type
Infancy, Neonatal
Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type
Antenatal
Dysraphism-cleft lip/palate-limb reduction defects syndrome
Antenatal