Rare Disease Library

Painful orbital and systemic neurofibromas-marfanoid habitus syndrome

Pediatric systemic lupus erythematosus

Disseminated lupus erythematosus · Lupus

Primary angiitis of the central nervous system

Isolated angiitis of the central nervous system · PACNS

Primary central nervous system lymphoma

PCNSL · Primary CNS lymphoma

Primary germ cell tumor of central nervous system

Primary germ cell tumor of CNS

Primary lymphedema with systemic or visceral involvement

Primary lymphedema without systemic or visceral involvement

Primary melanocytic tumor of central nervous system

Primary melanocytic lesion of CNS · Primary melanocytic lesion of central nervous system

Primary melanoma of the central nervous system

Primary melanoma of the CNS · Malignant melanoma of meninges

Primary tuberculosis of the digestive system

PrP systemic amyloidosis

Prion protein systemic amyloidosis · Chronic diarrhea with hereditary sensory and autonomic neuropathy

Rare autonomic nervous system disorder

Rare central nervous system and retinal vascular disease

Rare circulatory system disease

Rare disorder with dystonia and other neurologic or systemic manifestation

Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism

Rare genetic autonomic nervous system disorder

Rare genetic systemic or rheumatologic disease

Rare hereditary systemic disease with peripheral neuropathy

Rare nervous system tumor

Rare nervous system neoplasm

Rare pediatric systemic disease

Rare systemic disease

Rare systemic or rheumatologic disease

Rare systemic or rheumatological disease of childhood

Renin-angiotensin-aldosterone system-blocker-induced angioedema

ACEI-related acquired angioedema · Acquired angioedema with normal C1INH

Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

RVCL-S · Retinal vasculopathy and cerebral leukoencephalopathy

Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease

Secondary ILD in childhood and adulthood associated with a systemic disease

Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis

Secondary ILD in childhood and adulthood associated with a systemic vasculitis

Secondary interstitial lung disease specific to adulthood associated with a systemic disease

Secondary ILD specific to adulthood associated with a systemic disease

Secondary interstitial lung disease specific to childhood associated with a systemic disease

Secondary ILD specific to childhood associated with a systemic disease

Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis

Secondary ILD specific to childhood associated with a systemic vasculitis

Single-system multifocal Langerhans cell histiocytosis

Single-system multifocal histiocytosis X · Single-system multifocal Langerhans cell granulomatosis

Smoldering systemic mastocytosis

Spinal muscular atrophy associated with central nervous system anomaly

Kugelberg-Welander disease · SMA

STAT3-related early-onset multisystem autoimmune disease

Syndrome with a central nervous system malformation as a major feature

Syndromic lacrimal system disorder

Syndromic multisystem autoimmune disease due to Itch deficiency

Teratoma of the central nervous system

Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome

Stoll-Kieny-Dott syndrome

Yolk sac tumor of central nervous system

Endodermal sinus tumor of CNS · Endodermal sinus tumor of central nervous system