Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Isolated follicle stimulating hormone deficiency
Autosomal recessive
Adolescent, Adult
Isolated generalized anhidrosis with normal sweat glands
Autosomal recessive
Neonatal
Isolated glycerol kinase deficiency
X-linked recessive
All ages
Isolated hyperchlorhidrosis
Autosomal recessive
Infancy
Isolated lissencephaly type 1 without known genetic defects
Unknown
Infancy, Neonatal
Isolated melanotic schwannoma
Adolescent, Adult, Childhood, Elderly
Isolated mesenteric vein thrombosis
Adult, Elderly
Isolated micronodular adrenocortical disease
Isolated neonatal sclerosing cholangitis
Autosomal recessive
Neonatal
Isolated osteopoikilosis
Autosomal dominant
Adolescent, Adult, Childhood
Isolated permanent neonatal diabetes mellitus
Autosomal dominant, Autosomal recessive
Antenatal, Infancy, Neonatal
Isolated primary pigmented nodular adrenocortical disease
Isolated pulmonary capillaritis
Not applicable
Childhood
Isolated sedoheptulokinase deficiency
Autosomal recessive
Antenatal, Neonatal
Isolated splenic vein thrombosis
Adult, Elderly
Isolated succinate-CoQ reductase deficiency
Autosomal recessive
Infancy, Neonatal
Isolated thyroid-stimulating hormone deficiency
Autosomal recessive
Infancy, Neonatal
Isolated thyrotropin-releasing hormone deficiency
Unknown
All ages
Isosporiasis
Not applicable
All ages
Isovaleric acidemia
Autosomal recessive
Adolescent, Adult, Childhood, Infancy, Neonatal
Jansen-de Vries syndrome
Autosomal dominant
Infancy
Japanese encephalitis
Not applicable
All ages
Jervell and Lange-Nielsen syndrome
Autosomal recessive
Neonatal
Jessner lymphocytic infiltration of the skin
Not applicable
Adult