Lista chorób rzadkich*

52047 - Braddock syndrome

52054 - Craniosynostosis-intracranial calcifications syndrome

52055 - Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

52056 - Ulnar/fibula ray defect-brachydactyly syndrome

52183 - Premature chromosome condensation with microcephaly and intellectual disability

52368 - Mohr-Tranebjaerg syndrome

52416 - Mantle cell lymphoma

52417 - MALT lymphoma

52427 - Retinitis punctata albescens

52428 - Congenital muscular dystrophy type 1C

52429 - Branchiootic syndrome

52430 - Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

52503 - X-linked creatine transporter deficiency

52530 - Pseudo-von Willebrand disease

52662 - Rare teratologic disease

52688 - Myelodysplastic syndrome

52759 - Vasculitis

52901 - Isolated follicle stimulating hormone deficiency

52994 - Orbital leiomyoma

53035 - Caroli disease

53271 - Muenke syndrome

53296 - Familial cutaneous collagenoma

53347 - Brody myopathy

53351 - X-linked dystonia-parkinsonism

53372 - Hereditary geniospasm

53540 - Goldmann-Favre syndrome

53583 - Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity

53689 - Congenital chloride diarrhea

53690 - Congenital lactase deficiency

53691 - Congenital cornea plana

53693 - GRACILE syndrome

53696 - Arthrogryposis-anterior horn cell disease syndrome

53697 - Gnathodiaphyseal dysplasia

53698 - Myosin storage myopathy

53715 - Familial tumoral calcinosis

53719 - Wyburn-Mason syndrome

53721 - Spinal arteriovenous metameric syndrome

53739 - Distal hereditary motor neuropathy

54028 - Plummer-Vinson syndrome

54057 - Thrombotic thrombocytopenic purpura

54238 - Myotonic dystrophy type 3

54247 - Posterior cortical atrophy

54251 - Corticosteroid-sensitive aseptic abscess syndrome

54260 - Left ventricular noncompaction

54272 - Hepatocellular adenoma

54368 - Sarcocystosis

54370 - Primary membranoproliferative glomerulonephritis

54595 - Craniopharyngioma

55595 - TNP03-related limb-girdle muscular dystrophy D2

55596 - HNRNPDL-related limb-girdle muscular dystrophy D3

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