Rare Disease Library

Syngnathia-cleft palate syndrome

Synovial sarcoma

Synovialosarcoma

Synpolydactyly type 1

SD2, Vordingborg type · SD2a

Synpolydactyly type 2

SD2, Debeer type · SD2b

Synpolydactyly type 3

SD2, Malik type · SD2c

Syringocystadenoma papilliferum

Papillary syringocystadenoma · Fistulous vegetative verrucous hydradenoma

Syringomyelia

Systemic autoimmune disease

Systemic capillary leak syndrome

Capillary hyperpermeability syndrome · Capillary leak syndrome

Systemic cystic angiomatosis-Seip syndrome

Brunzell syndrome

Systemic disease with glomerulopathy as a major feature

Systemic disease with skin involvement

Systemic diseases with anterior uveitis

Systemic diseases with panuveitis

Systemic diseases with posterior uveitis

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

Systemic EBV+ T-cell LPD of childhood · Systemic EBV-positive T-cell lymphoproliferative disease of childhood

Systemic inflammatory disease associated with an acquired peripheral neuropathy

Systemic mastocytosis

Systemic mastocytosis with associated hematologic neoplasm

SM-AHNMD · Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease

Systemic monochloroacetate poisoning

Systemic polyarteritis nodosa

Systemic PAN · Systemic periarteritis nodosa

Systemic primary carnitine deficiency

CDSP · CUD

Systemic sclerosis

Progressive systemic sclerosis · Scleroderma

Systemic vasculitis associated with glomerulopathy

Systemic-onset juvenile idiopathic arthritis

Still disease · Systemic-onset JIA

T-B- severe combined immunodeficiency

T-B- SCID

T-B+ severe combined immunodeficiency

T-B+ SCID

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

T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta

T-B+ severe combined immunodeficiency due to CD45 deficiency

T-B+ SCID due to CD45 deficiency

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

T-B+ SCID due to IL-7Ralpha deficiency

T-B+ severe combined immunodeficiency due to JAK3 deficiency

T-B+ SCID due to JAK3 deficiency

T-cell immunodeficiency with epidermodysplasia verruciformis

T-cell immunodeficiency due to RHOH deficiency

T-cell immunodeficiency with thymic aplasia

Nezelof syndrome · Isolated congenital athymia

T-cell large granular lymphocyte leukemia

Proliferation of large granular lymphocytes · T-LGL

T-cell non-Hodgkin lymphoma

T-cell NHL

T-cell prolymphocytic leukemia

T-PLL · T-cell chronic lymphocytic leukemia

T-cell/histiocyte rich large B cell lymphoma

THRLBCL

T+ B+ severe combined immunodeficiency

TAFRO syndrome

Thrombocytopenia-anasarca-fever-renal insufficiency-organomegaly syndrome

Takayasu arteritis

Takenouchi-Kosaki syndrome

Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome

Tako-Tsubo cardiomyopathy

Ampulla cardiomyopathy · Apical ballooning syndrome

Talaromycosis

Talaromyces marneffei infection · Penicilliosis

Tall stature-intellectual disability-renal anomalies syndrome

Thauvin-Robinet-Faivre syndrome

Tall stature-long halluces-multiple extra-epiphyses syndrome

Tall stature-scoliosis-macrodactyly of the halluces syndrome

Talo-patello-scaphoid osteolysis

Singh-Williams-McAlister syndrome

Tangier disease

ATP-binding cassette transporter A1 deficiency · Analphalipoproteinemia

TARDBP-related predominantly upper-limb distal myopathy