Rare Disease Library

FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome

Genetic central nervous system and retinal vascular disease

Genetic central nervous system malformation

Genetic non-syndromic central nervous system malformation

Genetic syndrome with a central nervous system malformation as a major feature

Genetic syndrome with a CNS malformation as major feature

Genetic systemic disease with glomerulopathy as a major feature

Germinoma of the central nervous system

Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome

IgG4-related systemic disease

Indolent systemic mastocytosis

Infantile multisystem neurologic-endocrine-pancreatic disease

IMNEPD

Infantile onset panniculitis with uveitis and systemic granulomatosis

Infantile systemic hyalinosis

Infectious disease of the nervous system

Inflammatory/autoimmune disorder involving the lacrimal system

Inherited nervous system cancer-predisposing syndrome

Lacrimal drainage system anomaly

Excretory apparatus of the lacrimal system anomaly

Lacrimal drainage system anomaly of genetic origin

LAMA5-related multisystemic syndrome

Late-onset primary lymphedema without systemic or visceral involvement

Limited cutaneous systemic sclerosis

Limited cutaneous systemic scleroderma · Progressive systemic sclerosis

Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms

Medulloepithelioma of the central nervous system

Melanoma and neural system tumor syndrome

Melanoma-astrocytoma syndrome

Mixed germ cell tumor of central nervous system

Mixed germ cell tumor of CNS

Multiple system atrophy

MSA · Multisystem atrophy

Multiple system atrophy, cerebellar type

MSA, cerebellar type · MSA-c

Multiple system atrophy, parkinsonian type

MSA, parkinsonian type · MSA-p

Multisystem inflammatory syndrome in children and adults

MIS-C/A

Multisystem Langerhans cell histiocytosis

Multisystem Langerhans cell granulomatosis · Multisystem histiocytosis X

Multisystemic smooth muscle dysfunction syndrome

Nephrogenic systemic fibrosis

Nephrogenic fibrosing dermopathy

Neurological channelopathy of the central nervous system due to a genetic chloride channel defect

Non-central nervous system-localized embryonal carcinoma

Non-CNS-localized embryonal carcinoma

Non-genetic systemic disease with glomerulopathy as a major feature

Non-syndromic central nervous system malformation

OBSOLETE: Anomaly of the secretory and excretory apparatus of the lacrimal system

OBSOLETE: Bullous systemic lupus erythematosus

OBSOLETE: BSLE

OBSOLETE: Congenital systemic arteriovenous fistula

OBSOLETE: Corpus callosum agenesis-double urinary collecting system-trigonocephaly syndrome

OBSOLETE: Ben Ari-Shuper-Mimouni syndrome

OBSOLETE: Nervous system anomaly with eye involvement

OBSOLETE: Pediatric systemic sclerosis

OBSOLETE: Pediatric systemic scleroderma

OBSOLETE: Rare genetic palpebral, lacrimal system and conjunctival disease

OBSOLETE: Rare palpebral, lacrimal system and conjunctival disease

OBSOLETE: Secretory apparatus of the lacrimal system anomaly

OBSOLETE: Systemic disease with cataract

OBSOLETE: Systemic non-Langerhans cell histiocytosis

Other syndrome with a central nervous system malformation as a major feature