MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
3,968 diseases matched (Disease) Reset

Syringocystadenoma papilliferum

ORPHA:840Disease
Unknown

Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood

ORPHA:364033Disease
Not applicable

Systemic capillary leak syndrome

ORPHA:188Disease
Not applicable

Systemic lupus erythematosus

ORPHA:536Disease
Not applicable

Systemic mastocytosis with associated hematologic neoplasm

ORPHA:98849Disease
Not applicable

Systemic monochloroacetate poisoning

ORPHA:90069Disease

Systemic primary carnitine deficiency

ORPHA:158Disease
Autosomal recessive

Systemic sclerosis

ORPHA:90291Disease
Multigenic/multifactorial, Not applicable

Systemic-onset juvenile idiopathic arthritis

ORPHA:85414Disease
Multigenic/multifactorial, Unknown

Sézary syndrome

ORPHA:3162Disease
Multigenic/multifactorial, Not applicable

T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta

ORPHA:169160Disease
Autosomal recessive

T-B+ severe combined immunodeficiency due to CD45 deficiency

ORPHA:169157Disease
Autosomal recessive

T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency

ORPHA:169154Disease
Autosomal recessive

T-B+ severe combined immunodeficiency due to JAK3 deficiency

ORPHA:35078Disease
Autosomal recessive

T-B+ severe combined immunodeficiency due to gamma chain deficiency

ORPHA:276Disease
X-linked recessive

T-cell immunodeficiency with epidermodysplasia verruciformis

ORPHA:324294Disease
Autosomal recessive

T-cell immunodeficiency with thymic aplasia

ORPHA:83471Disease
Autosomal recessive

T-cell large granular lymphocyte leukemia

ORPHA:86872Disease
Not applicable

T-cell prolymphocytic leukemia

ORPHA:86871Disease
Not applicable

T-cell/histiocyte rich large B cell lymphoma

ORPHA:300857Disease
Multigenic/multifactorial, Not applicable

TAFRO syndrome

ORPHA:457077Disease
Not applicable

TARDBP-related predominantly upper-limb distal myopathy

ORPHA:700154Disease
Autosomal dominant

TCR-alpha-beta-positive T-cell deficiency

ORPHA:397959Disease
Autosomal recessive

TFR2-related hemochromatosis

ORPHA:225123Disease
Autosomal recessive