Lista chorób rzadkich*

218436 - Rare cardiac rhythm disease

218439 - Non-genetic cardiac rhythm disease

220295 - Xeroderma pigmentosum-Cockayne syndrome complex

220386 - Semilobar holoprosencephaly

220393 - Diffuse cutaneous systemic sclerosis

220402 - Limited cutaneous systemic sclerosis

220407 - Limited systemic sclerosis

220436 - Quebec platelet disorder

220443 - Bleeding diathesis due to thromboxane synthesis deficiency

220448 - Macrothrombocytopenia with mitral valve insufficiency

220452 - Isolated hereditary giant platelet disorder

220460 - Attenuated familial adenomatous polyposis

220465 - Laron syndrome with immunodeficiency

220489 - Rare hereditary hemochromatosis

220493 - Joubert syndrome with ocular defect

220497 - Joubert syndrome with renal defect

221008 - Rothmund-Thomson syndrome type 1

221016 - Rothmund-Thomson syndrome type 2

221039 - Hereditary sclerosing poikiloderma, Weary type

221043 - Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome

221046 - Poikiloderma with neutropenia

221054 - Acrocephalopolydactyly

221061 - Familial cerebral cavernous malformation

221074 - Marchiafava-Bignami disease

221078 - Combined hyperactive dysfunction syndrome of the cranial nerves

221083 - Hemifacial spasm

221091 - Trigeminal neuralgia

221098 - Glossopharyngeal neuralgia

221106 - OBSOLETE: Isolated facial myokymia

221109 - Cranial neuralgia

221114 - Acquired peripheral movement disorder

221117 - Gerstmann syndrome

221120 - Pseudoaminopterin syndrome

221126 - Fowler vasculopathy

221139 - Combined immunodeficiency with facio-oculo-skeletal anomalies

221142 - Confetti-like macular atrophy

221145 - Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

221150 - OBSOLETE: Pitt-Hopkins-like syndrome

222628 - Hereditary poikiloderma

223713 - Mitochondrial oxidative phosphorylation disorder

223727 - Bone sarcoma

223735 - Lymphoma

225123 - TFR2-related hemochromatosis

225147 - Sporadic infantile bilateral striatal necrosis

225154 - Familial infantile bilateral striatal necrosis

225681 - Lysosomal disease with epilepsy

225686 - Peroxisomal disease with epilepsy

225689 - Amino acid or protein metabolism disease with epilepsy

225692 - Metal transport or utilization disorder with epilepsy

225696 - Energy metabolism disorder with epilepsy

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