Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
Autosomal recessive
Infancy, Neonatal
Dicarboxylic aminoaciduria
Autosomal recessive
Infancy, Neonatal
Didymosis aplasticosebacea
Not applicable
Infancy, Neonatal
Diencephalic syndrome
Not applicable
Adolescent, Adult, Childhood, Infancy
Dietary iron overload disease
Not applicable
Adult, Elderly
Difference of sex development-intellectual disability syndrome
Unknown
Neonatal
Differentiated thyroid carcinoma
Not applicable
Adolescent, Adult, Childhood
Diffuse astrocytoma
Adolescent, Adult, Childhood
Diffuse cutaneous mastocytosis
Not applicable
Infancy, Neonatal
Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia
Adult, Elderly
Diffuse intrinsic pontine glioma
All ages
Diffuse large B-cell lymphoma of the central nervous system
Multigenic/multifactorial, Not applicable
Diffuse palmoplantar keratoderma with painful fissures
Autosomal dominant
Infancy, Neonatal
Diffuse palmoplantar keratoderma, Bothnian type
Autosomal dominant
Childhood, Infancy
Diffuse palmoplantar keratoderma-acrocyanosis syndrome
Autosomal dominant
Infancy, Neonatal
Diffuse panbronchiolitis
Multigenic/multifactorial
Adult
Digenic hemochromatosis
Dihydropyrimidine dehydrogenase deficiency
Autosomal recessive
All ages
Dihydropyrimidinuria
Autosomal recessive
Childhood, Infancy
Dilated cardiomyopathy with ataxia
Autosomal recessive
Childhood, Infancy
Dimethylglycine dehydrogenase deficiency
Autosomal recessive
Childhood
Diphtheria
All ages
Diphyllobothriasis
Not applicable
All ages
Dirofilariasis
Not applicable
All ages