Rare (orphan) diseases
The full catalogue of 7,547 diseases with genetics, phenotypes, epidemiology, orphan drugs, and clinical trials.
Synpolydactyly type 2
Autosomal dominant
Syringocystadenoma papilliferum
Unknown
Adolescent, Childhood, Infancy, Neonatal
Syringomyelia
Not applicable
All ages
Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood
Not applicable
Childhood
Systemic capillary leak syndrome
Not applicable
Adult
Systemic diseases with anterior uveitis
Adolescent, Adult, Childhood, Elderly
Systemic lupus erythematosus
Not applicable
Adolescent, Adult, Childhood, Infancy
Systemic mastocytosis
Not applicable
All ages
Systemic mastocytosis with associated hematologic neoplasm
Not applicable
Adult, Elderly
Systemic monochloroacetate poisoning
All ages
Systemic polyarteritis nodosa
Not applicable
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