Rare Disease Library

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 lupus erythematosus

Disseminated lupus erythematosus · Lupus

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

Schaaf-Yang syndrome

SYS

Invasive candidiasis

Systemic candidiasis · Disseminated candidiasis

Karyomegalic interstitial nephritis

KIN · Systemic karyomegaly

Limited systemic sclerosis

Progressive systemic sclerosis · Scleroderma

NEMO deleted exon 5 autoinflammatory syndrome

NDAS · NEMO-NDAS

Primary systemic amyloidosis

Systemic AL amyloidosis

Vasculitis

Systemic vasculitis

Acute infantile liver failure-multisystemic involvement syndrome

Aggressive systemic mastocytosis

Autosomal systemic lupus erythematosus

Autosomal SLE · Disseminated lupus erythematosus

Central nervous system cystic malformation

Central nervous system embryonal tumor

CNS PNET · Central nervous system primitive neuroectodermal tumor

Central nervous system malformation

Central nervous system tuberculosis

CNS tuberculosis

Choriocarcinoma of the central nervous system

Congenital portosystemic shunt

Congenital portosystemic venous fistula

Congenital primary lymphedema without systemic or visceral involvement

Congenital systemic veins anomaly

Dermoid or epidermoid cyst of the central nervous system

Dermoid or epidermoid cyst of the CNS

Diffuse cutaneous systemic sclerosis

Diffuse cutaneous systemic scleroderma · Progressive cutaneous systemic scleroderma

Diffuse large B-cell lymphoma of the central nervous system

Diffuse large B-cell lymphoma · DLBCL

Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement

Disorder with multisystemic involvement and glomerulopathy

Disorder with multisystemic involvement and primary lymphedema

Drug reaction with eosinophilia and systemic symptoms

DRESS syndrome · Drug rash with eosinophilia and systemic symptoms

Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome

Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome

Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome

Embryonal carcinoma of the central nervous system

Embryonal carcinoma of the CNS

Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome

Char-Douglas-Dungan syndrome