Lista chorób rzadkich*

279928 - Paraneoplastic uveitis

279934 - Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency

279943 - Hereditary neutrophilia

279947 - Postorgasmic illness syndrome

280062 - Calciphylaxis

280065 - Calciphylaxis cutis

280068 - Visceral calciphylaxis

280071 - ALG11-CDG

280110 - NON RARE IN EUROPE: Paget disease of bone

280133 - Complement component 3 deficiency

280142 - Severe combined immunodeficiency due to LCK deficiency

280183 - Methylmalonic aciduria due to transcobalamin receptor defect

280195 - Septopreoptic holoprosencephaly

280200 - Microform holoprosencephaly

280205 - Laryngotracheoesophageal cleft type 0

280210 - Pelizaeus-Merzbacher disease, connatal form

280219 - Pelizaeus-Merzbacher disease, classic form

280224 - Pelizaeus-Merzbacher disease, transitional form

280229 - Pelizaeus-Merzbacher disease in female carriers

280234 - Null syndrome

280270 - Pelizaeus-Merzbacher-like disease

280282 - Pelizaeus-Merzbacher-like disease due to GJC2 mutation

280288 - Pelizaeus-Merzbacher-like disease due to HSPD1 mutation

280293 - Pelizaeus-Merzbacher-like disease due to AIMP1 mutation

280302 - Autoimmune pancreatitis type 1

280315 - Autoimmune pancreatitis type 2

280325 - Distal deletion 12p

280333 - Alpha-dystroglycan-related limb-girdle muscular dystrophy R16

280342 - Rare systemic or rheumatological disease of childhood

280356 - PLIN1-related familial partial lipodystrophy

280365 - Autosomal semi-dominant severe lipodystrophic laminopathy

280369 - Rare pediatric vasculitis

280373 - Rare pediatric systemic disease

280379 - Erythropoietic uroporphyria associated with myeloid malignancy

280384 - Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome

280397 - Familial Alzheimer-like prion disease

280400 - Inherited human prion disease

280403 - Familial omphalocele syndrome with facial dysmorphism

280406 - Familial steroid-resistant nephrotic syndrome with sensorineural deafness

280553 - Fatal infantile hypertonic myofibrillar myopathy

280558 - Warsaw breakage syndrome

280569 - OBSOLETE: Rapidly progressive glomerulonephritis

280576 - Nestor-Guillermo progeria syndrome

280586 - Chondrodysplasia with joint dislocations, gPAPP type

280598 - Hereditary sensorimotor neuropathy with hyperelastic skin

280615 - Hemoglobinopathy Toms River

280620 - Progressive myoclonic epilepsy type 6

280628 - Familial progressive hyper- and hypopigmentation

280633 - Multiple congenital anomalies-hypotonia-seizures syndrome

280640 - Occipital pachygyria and polymicrogyria

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl

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