Lista chorób rzadkich*

251009 - Maternal uniparental disomy of chromosome 1

251014 - 2q31.1 microdeletion syndrome

251019 - 2q32q33 microdeletion syndrome

251028 - SATB2-associated syndrome due to a chromosomal rearrangement

251038 - 3q29 microduplication syndrome

251043 - Ring chromosome 5 syndrome

251046 - 6p22 microdeletion syndrome

251056 - 6q25 microdeletion syndrome

251061 - 7q31 microdeletion syndrome

251066 - 8p11.2 deletion syndrome

251071 - 8p23.1 microdeletion syndrome

251076 - 8p23.1 duplication syndrome

251262 - Familial osteochondritis dissecans

251274 - Familial hyperaldosteronism type III

251279 - Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome

251282 - Autosomal dominant spastic ataxia type 1

251287 - Benign concentric annular macular dystrophy

251290 - Parietal foramina with clavicular hypoplasia

251295 - Pigmented paravenous retinochoroidal atrophy

251304 - Infantile onset panniculitis with uveitis and systemic granulomatosis

251307 - Idiopathic recurrent pericarditis

251312 - Overlapping connective tissue disease

251316 - OBSOLETE: Unclassified overlapping connective tissue disease

251325 - Drug-induced vasculitis

251328 - Unclassified vasculitis

251332 - Unexplained long-lasting fever/inflammatory syndrome

251347 - Ataxia-telangiectasia-like disorder

251355 - Sickle cell disease associated with another hemoglobin anomaly

251359 - Sickle cell-beta-thalassemia disease syndrome

251365 - Sickle cell-hemoglobin C disease syndrome

251370 - Sickle cell-hemoglobin D disease syndrome

251375 - Sickle cell-hemoglobin E disease syndrome

251380 - Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome

251383 - CK syndrome

251393 - Localized junctional epidermolysis bullosa

251510 - 46,XY partial gonadal dysgenesis

251515 - Distal arthrogryposis type 10

251523 - Hyperzincemia and hypercalprotectinemia

251529 - Toxic or drug-related embryofetopathy

251535 - Maternal disease-related embryofetopathy

251558 - Rare tumor of neuroepithelial tissue

251561 - High-grade astrocytoma

251576 - Gliosarcoma

251579 - Giant cell glioblastoma

251582 - Gliomatosis cerebri

251589 - Anaplastic astrocytoma

251592 - Low-grade astrocytoma

251595 - Diffuse astrocytoma

251598 - Protoplasmic astrocytoma

251601 - Fibrillary astrocytoma

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