Lista chorób rzadkich*

538872 - Vegetative pyoderma gangrenosum

538931 - X-linked lymphoproliferative disease due to SH2D1A deficiency

538934 - X-linked lymphoproliferative disease due to XIAP deficiency

538958 - Combined immunodeficiency due to CD70 deficiency

538963 - Combined immunodeficiency due to ITK deficiency

541423 - Growth delay-intellectual disability-hepatopathy syndrome

541443 - Anomalous aortic origin of the left coronary artery

541454 - Anomalous aortic origin of the right coronary artery

541478 - Anomalous aortic origin of coronary artery

541507 - Anomalous origin of coronary artery from the pulmonary artery

542301 - Combined immunodeficiency due to CARMIL2 deficiency

542306 - GNB5-related intellectual disability-cardiac arrhythmia syndrome

542310 - Leukoencephalopathy with calcifications and cysts

542323 - CAR T cell therapy-associated cytokine release syndrome

542568 - Quadricuspid aortic valve

542585 - Auditory neuropathy-optic atrophy syndrome

542592 - Necrobiosis lipoidica

542643 - Livedoid vasculopathy

542657 - Isolated hyperchlorhidrosis

542822 - Anomaly of the coronary ostia

543470 - Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome

544254 - SYNGAP1-related developmental and epileptic encephalopathy

544458 - Hemolytic uremic syndrome

544469 - PRUNE1-related neurological syndrome

544472 - Atypical hemolytic uremic syndrome with complement gene abnormality

544482 - Infection-related hemolytic uremic syndrome

544488 - Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome

544493 - Streptococcus pneumoniae-associated hemolytic uremic syndrome

544503 - RNF13-related severe early-onset epileptic encephalopathy

544578 - Congenital primary megaureter, refluxing and obstructed form

544590 - Collagen-related glomerular basement membrane disease

544602 - Congenital myopathy with reduced type 2 muscle fibers

544628 - Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome

555402 - NAD(P)HX dehydratase deficiency

555407 - NAD(P)HX epimerase deficiency

555434 - Fibrohistiocytic inflammatory pseudotumor of the liver

555437 - Lymphoplasmacytic inflammatory pseudotumor of the liver

555874 - Congenital tricuspid valve dysplasia

555877 - FLNA-related X-linked myxomatous valvular dysplasia

555905 - IgA pemphigus

556030 - Early-onset familial hypoaldosteronism

556037 - Late-onset familial hypoaldosteronism

556508 - Rare disorder due to poisoning

556955 - Pancreatic agenesis-holoprosencephaly syndrome

556985 - Early-onset calcifying leukoencephalopathy-skeletal dysplasia

557003 - Oculoskeletodental syndrome

557056 - Spastic ataxia-dysarthria due to glutaminase deficiency

557064 - Neonatal epileptic encephalopathy due to glutaminase deficiency

557866 - Rare disorder with Hirschsprung disease as a major feature

558411 - Idiopathic gastroparesis

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