Lista chorób rzadkich*

247765 - X-linked cerebellar ataxia

247768 - Müllerian aplasia and hyperandrogenism

247775 - Mayer-Rokitansky-Küster-Hauser syndrome type 1

247790 - FTH1-related iron overload

247794 - Juvenile cataract-microcornea-renal glucosuria syndrome

247798 - MUTYH-related attenuated familial adenomatous polyposis

247806 - APC-related attenuated familial adenomatous polyposis

247815 - Autosomal recessive ataxia due to PEX10 deficiency

247820 - Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome

247827 - Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome

247834 - Occult macular dystrophy

247839 - OBSOLETE: Oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies

247846 - OBSOLETE: Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies

247854 - OBSOLETE: Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies

247861 - OBSOLETE: Rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies

247868 - NLRP12-associated hereditary periodic fever syndrome

247871 - OBSOLETE: Vitiligo-associated autoimmune disease

248095 - Primary hypertrophic osteoarthropathy

248111 - Juvenile Huntington disease

248293 - Rare deficiency anemia

248296 - Constitutional deficiency anemia

248302 - Rare acquired deficiency anemia

248305 - OBSOLETE: Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency

248308 - Rare hemorrhagic disorder

248315 - Rare hemorrhagic disorder due to a coagulation factors defect

248326 - Rare hemorrhagic disorder due to a platelet anomaly

248340 - Isolated delta-storage pool disease

248347 - Rare hemorrhagic disorder due to an acquired platelet anomaly

248358 - Rare thrombotic disorder due to a coagulation factors defect

248361 - Rare thrombotic disorder due to a constitutional coagulation factors defect

248365 - Rare thrombotic disorder due to an acquired coagulation factors defect

248368 - Rare thrombotic disorder due to a platelet anomaly

248401 - Rare thrombotic disorder due to a constitutional platelet anomaly

248404 - Rare thrombotic disorder due to an acquired platelet anomaly

248408 - Familial hypodysfibrinogenemia

250165 - Genetic polycythemia

250805 - Serpinopathy

250808 - Serpinopathy with toxic serpin polymerization

250811 - Serpinopathy with loss of serpin function

250831 - Logopenic progressive aphasia

250908 - Rare neoplastic disease

250923 - Isolated aniridia

250932 - Autosomal dominant optic atrophy and peripheral neuropathy

250972 - Polymicrogyria with optic nerve hypoplasia

250977 - AICA-ribosiduria

250984 - Autosomal recessive Stickler syndrome

250989 - 1q21.1 microdeletion syndrome

250994 - 1q21.1 microduplication syndrome

250999 - 1q41q42 microdeletion syndrome

251004 - Paternal uniparental disomy of chromosome 1

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl

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