Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
DNAJB6-related limb-girdle muscular dystrophy D1
Autosomal dominant
Adult
DPAGT1-CDG
Autosomal recessive
Childhood, Infancy, Neonatal
DPM1-CDG
Autosomal recessive
Infancy, Neonatal
DPM3-CDG
Autosomal recessive
Childhood
Danon disease
X-linked dominant
Childhood
Darier disease
Autosomal dominant
Adolescent, Adult, Childhood
De Barsy syndrome
Autosomal recessive
Antenatal, Infancy, Neonatal
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
Autosomal recessive
Infancy, Neonatal
Deafness-small bowel diverticulosis-neuropathy syndrome
Childhood
Deep dermatophytosis
Not applicable
Adult, Childhood
Deficiency in anterior pituitary function-variable immunodeficiency syndrome
Autosomal dominant
Childhood
Deficiency of adenosine deaminase 2
Autosomal recessive
Childhood, Infancy
Dehydrated hereditary stomatocytosis
Autosomal dominant
Antenatal, Neonatal
Dejerine-Sottas syndrome
Autosomal dominant, Autosomal recessive, Not applicable
Infancy
Delayed encephalopathy due to carbon monoxide poisoning
All ages
Delta-beta-thalassemia
Autosomal recessive
Infancy, Neonatal
Delta-sarcoglycan-related limb-girdle muscular dystrophy R6
Autosomal recessive
Childhood
Dementia pugilistica
Adult
Dengue fever
Not applicable
All ages
Dent disease
X-linked recessive
Childhood
Dentatorubral pallidoluysian atrophy
Autosomal dominant
All ages
Dentin dysplasia
Autosomal dominant
All ages
Dentin dysplasia-sclerotic bones syndrome
Infancy
Dentinogenesis imperfecta
Autosomal dominant
Childhood