Lista chorób rzadkich*

228285 - Acquired cutis laxa

228290 - White fibrous papulosis of the neck

228293 - Pseudoxanthoma elasticum-like papillary dermal elastolysis

228299 - Mid-dermal elastolysis

228302 - Carnitine palmitoyl transferase II deficiency, myopathic form

228305 - Carnitine palmitoyl transferase II deficiency, severe infantile form

228308 - Carnitine palmitoyl transferase II deficiency, neonatal form

228312 - Autoimmune hemolytic anemia, cold type

228315 - OBSOLETE: Idiopathic hypersomnia with long sleep time

228318 - OBSOLETE: Idiopathic hypersomnia without long sleep time

228329 - CLN1 disease

228337 - CLN10 disease

228340 - CLN4A disease

228343 - CLN4B disease

228346 - CLN3 disease

228349 - CLN2 disease

228354 - CLN8 disease

228357 - CLN9 disease

228360 - CLN5 disease

228363 - CLN6 disease

228366 - CLN7 disease

228371 - Foodborne botulism

228374 - Charcot-Marie-Tooth disease type 2B5

228379 - Virus-associated trichodysplasia spinulosa

228384 - 5q14.3 microdeletion syndrome

228387 - Spondylo-megaepiphyseal-metaphyseal dysplasia

228390 - Frontonasal dysplasia-alopecia-genital anomalies syndrome

228396 - Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome

228399 - 8q12 microduplication syndrome

228402 - 2q23.1 microdeletion syndrome

228407 - Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome

228410 - Polyvalvular heart disease syndrome

228415 - 5q35 microduplication syndrome

228418 - OBSOLETE: Microcephaly-seizures-developmental delay syndrome

228423 - Monocytopenia with susceptibility to infections

228426 - Syndromic multisystem autoimmune disease due to Itch deficiency

228429 - Generalized congenital lipodystrophy with myopathy

229717 - Isolated agammaglobulinemia

229720 - Syndromic agammaglobulinemia

230800 - Toxin-mediated infectious botulism

230839 - Classical-like Ehlers-Danlos syndrome type 1

230845 - Vascular-like classical Ehlers-Danlos syndrome

230851 - Cardiac-valvular Ehlers-Danlos syndrome

230857 - Ehlers-Danlos/osteogenesis imperfecta syndrome

231013 - Congenital trigeminal anesthesia

231031 - Erythema palmare hereditarium

231040 - Familial generalized lentiginosis

231080 - High-grade dysplasia in patients with Barrett esophagus

231108 - Familial rhabdoid tumor

231111 - Drug-induced lupus erythematosus

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