Lista chorób rzadkich*

238769 - 1q44 microdeletion syndrome

240071 - Classic progressive supranuclear palsy syndrome

240085 - Progressive supranuclear palsy-parkinsonism syndrome

240094 - Progressive supranuclear palsy-pure akinesia with gait freezing syndrome

240103 - Progressive supranuclear palsy-corticobasal syndrome

240112 - Progressive supranuclear palsy-progressive non-fluent aphasia syndrome

240266 - OBSOLETE: Systemic non-Langerhans cell histiocytosis

240371 - Syndromic obesity

240760 - Nijmegen breakage syndrome-like disorder

243343 - Dimethylglycine dehydrogenase deficiency

243367 - Acute fatty liver of pregnancy

243377 - NON RARE IN EUROPE: Diabetes mellitus type 1

243761 - NON RARE IN EUROPE: Essential hypertension

244242 - HELLP syndrome

244275 - De novo thrombotic microangiopathy after kidney transplantation

244283 - Biliary atresia with splenic malformation syndrome

244305 - Dominant hypophosphatemia with nephrolithiasis or osteoporosis

244310 - RFT1-CDG

247165 - Infantile mercury poisoning

247198 - Progressive cerebello-cerebral atrophy

247203 - Collecting duct carcinoma

247234 - Sporadic adult-onset ataxia of unknown etiology

247239 - Non-hereditary degenerative ataxia

247242 - Acquired ataxia

247245 - Superficial siderosis

247257 - Inhalational anthrax

247262 - Hyperphosphatasia-intellectual disability syndrome

247353 - Generalized pustular psoriasis

247378 - Autosomal recessive secondary polycythemia not associated with VHL gene

247511 - Autosomal dominant secondary polycythemia

247522 - Primary ciliary dyskinesia-retinitis pigmentosa syndrome

247525 - Citrullinemia type I

247546 - Acute neonatal citrullinemia type I

247573 - Late-onset citrullinemia type I

247582 - Citrin deficiency

247585 - Citrullinemia type II

247598 - Neonatal intrahepatic cholestasis due to citrin deficiency

247604 - Juvenile primary lateral sclerosis

247623 - Perinatal lethal hypophosphatasia

247638 - Prenatal benign hypophosphatasia

247651 - Infantile hypophosphatasia

247667 - Childhood-onset hypophosphatasia

247676 - Adult hypophosphatasia

247685 - Odontohypophosphatasia

247691 - Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

247698 - Multiple endocrine neoplasia type 2A

247709 - Multiple endocrine neoplasia type 2B

247718 - Inflammatory myopathy with abundant macrophages

247724 - Idiopathic eosinophilic myositis

247762 - Lipoblastoma

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