Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Discoid lupus erythematosus
Adolescent, Adult, Childhood, Elderly
Dissecting cellulitis of the scalp
Not applicable
Adult
Disseminated peritoneal leiomyomatosis
Unknown
Adult
Disseminated superficial actinic porokeratosis
Autosomal dominant
Adolescent, Adult, Childhood, Elderly
Distal anoctaminopathy
Autosomal recessive
Adolescent, Adult
Distal arthrogryposis type 5D
Autosomal recessive
Neonatal
Distal hereditary motor neuropathy type 1
Autosomal dominant
Adolescent, Adult, Childhood
Distal hereditary motor neuropathy type 2
Autosomal dominant
Adolescent, Adult
Distal hereditary motor neuropathy type 5
Autosomal dominant
Adolescent, Adult, Childhood
Distal hereditary motor neuropathy type 7
Autosomal dominant
Adolescent, Adult, Childhood
Distal hereditary motor neuropathy, Jerash type
Autosomal recessive
Childhood
Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy
Autosomal recessive
Distal myopathy with anterior tibial onset
Autosomal recessive
Adolescent, Adult
Distal myopathy, Tateyama type
Autosomal dominant
Adult
Distal myopathy, Welander type
Autosomal dominant
Adult
Distal myotilinopathy
Autosomal dominant
Adult, Elderly
Distal renal tubular acidosis
Autosomal dominant, Autosomal recessive, Not applicable
All ages
Distal spinal muscular atrophy type 3
Autosomal recessive
Adolescent, Adult, Childhood, Infancy
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Autosomal dominant
Adult
Dopa-responsive dystonia due to sepiapterin reductase deficiency
Autosomal recessive
Infancy, Neonatal
Dopamine beta-hydroxylase deficiency
Autosomal recessive
Adolescent, Adult, Childhood, Infancy, Neonatal
Dowling-Degos disease
Autosomal dominant
Adolescent, Adult
Dracunculiasis
All ages
Dravet syndrome
Autosomal dominant
Infancy, Neonatal