Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Distal duplication 6p syndrome
Antenatal, Neonatal
Distal duplication 6q syndrome
Antenatal, Neonatal
Distal duplication 7p syndrome
Antenatal, Neonatal
Distal duplication 8q syndrome
Antenatal, Neonatal
Distal duplication 9q syndrome
Antenatal, Neonatal
Distal limb deficiencies-micrognathia syndrome
Autosomal recessive
Neonatal
Distal monosomy 7q36 syndrome
Antenatal, Neonatal
Dobrow syndrome
Antenatal, Infancy, Neonatal
Donnai-Barrow syndrome
Autosomal recessive
Antenatal, Neonatal
Donohue syndrome
Autosomal recessive
Antenatal, Neonatal
Double uterus-hemivagina-renal agenesis syndrome
Unknown
Antenatal, Infancy, Neonatal
Down syndrome
Not applicable
Antenatal, Neonatal
Duane retraction syndrome
Autosomal dominant, Autosomal recessive, Not applicable
Infancy, Neonatal
Duane retraction syndrome with congenital deafness
Autosomal dominant
Neonatal
Dubowitz syndrome
Autosomal recessive
Antenatal, 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
Dysplasia epiphysealis hemimelica
Autosomal dominant
Adolescent, Childhood
Dysraphism-cleft lip/palate-limb reduction defects syndrome
Antenatal
Dysspondyloenchondromatosis
Autosomal dominant, Not applicable
Infancy, Neonatal
EEC syndrome
Autosomal dominant
Antenatal, Neonatal