Lista chorób rzadkich*

371235 - Congenital disorder of glycosylation with developmental anomaly

371364 - Hypotonia-speech impairment-severe cognitive delay syndrome

371428 - Multicentric osteolysis-nodulosis-arthropathy spectrum

371433 - Genetic periodic paralysis

371436 - Genetic neurovascular malformation

371439 - OBSOLETE: Genetic cerebrovascular dementia

371442 - Sphingolipidosis with epilepsy

371445 - Genetic syndromic esophageal malformation

371861 - Genetic hyperaldosteronism

376724 - Generalized isolated dystonia

391307 - Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome

391311 - Susceptibility to viral and mycobacterial infections due to STAT1 deficiency

391316 - Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression

391320 - East Texas bleeding disorder

391327 - X-linked calvarial hyperostosis

391330 - X-linked osteoporosis with fractures

391343 - Fatal post-viral neurodegenerative disorder

391348 - Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome

391351 - SURF1-related Charcot-Marie-Tooth disease type 4

391366 - Growth retardation-mild developmental delay-chronic hepatitis syndrome

391372 - Intellectual disability-severe speech delay-mild dysmorphism syndrome

391376 - Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome

391381 - Disorder of asparagine metabolism

391384 - Familial episodic pain syndrome

391389 - Familial episodic pain syndrome with predominantly upper body involvement

391392 - Familial episodic pain syndrome with predominantly lower limb involvement

391397 - Hereditary sensory and autonomic neuropathy type 7

391408 - Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome

391411 - Atypical juvenile parkinsonism

391417 - HSD10 disease

391428 - HSD10 disease, infantile type

391457 - HSD10 disease, neonatal type

391474 - Frontorhiny

391479 - OBSOLETE: Syndromic frontonasal dysplasia

391487 - Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome

391490 - Adult-onset myasthenia gravis

391497 - Juvenile myasthenia gravis

391504 - Transient neonatal myasthenia gravis

391641 - Feingold syndrome type 1

391646 - Feingold syndrome type 2

391651 - Glomus tumor

391655 - Off-periods in Parkinson disease not responding to oral treatment

391658 - OBSOLETE: Cowpox infection

391665 - Homozygous familial hypercholesterolemia

391673 - Necrotizing enterocolitis

391677 - Short stature-optic atrophy-Pelger-Huët anomaly syndrome

391711 - Persistent combined dystonia

391723 - Mucinous adenocarcinoma of the appendix

391799 - Rare genetic dystonia

394529 - Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type

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