Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Syringocystadenoma papilliferum
Unknown
Adolescent, Childhood, Infancy, Neonatal
Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood
Not applicable
Childhood
Systemic capillary leak syndrome
Not applicable
Adult
Systemic lupus erythematosus
Not applicable
Adolescent, Adult, Childhood, Infancy
Systemic mastocytosis with associated hematologic neoplasm
Not applicable
Adult, Elderly
Systemic monochloroacetate poisoning
All ages
Systemic primary carnitine deficiency
Autosomal recessive
Infancy, Neonatal
Systemic sclerosis
Multigenic/multifactorial, Not applicable
Adult
Systemic-onset juvenile idiopathic arthritis
Multigenic/multifactorial, Unknown
Childhood
Sézary syndrome
Multigenic/multifactorial, Not applicable
Adult
T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
Autosomal recessive
Infancy
T-B+ severe combined immunodeficiency due to CD45 deficiency
Autosomal recessive
Infancy
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
Autosomal recessive
Infancy
T-B+ severe combined immunodeficiency due to JAK3 deficiency
Autosomal recessive
Infancy, Neonatal
T-B+ severe combined immunodeficiency due to gamma chain deficiency
X-linked recessive
Neonatal
T-cell immunodeficiency with epidermodysplasia verruciformis
Autosomal recessive
Childhood
T-cell immunodeficiency with thymic aplasia
Autosomal recessive
Infancy, Neonatal
T-cell large granular lymphocyte leukemia
Not applicable
Adult
T-cell prolymphocytic leukemia
Not applicable
Adult, Elderly
T-cell/histiocyte rich large B cell lymphoma
Multigenic/multifactorial, Not applicable
Adolescent, Adult, Childhood, Elderly
TAFRO syndrome
Not applicable
Adolescent, Adult, Elderly
TARDBP-related predominantly upper-limb distal myopathy
Autosomal dominant
TCR-alpha-beta-positive T-cell deficiency
Autosomal recessive
Infancy
TFR2-related hemochromatosis
Autosomal recessive
Adolescent, Adult