Articoli su iris.unipa.it inerenti le malattie rare dell'apparato respiratorio
Ascolta
| Fibrosi polmonare idiopatica | Idiopathic pulmonary fibrosis |
| Polmonite criptogenica organizzata | Organized cryptogenic pneumonia |
| Polmonite interstiziale acuta | Acute interstitial pneumonia |
Articoli su iris.unipa.it inerenti le coagulopatie
Ascolta
| Afibrinogenemia | Afibrinogenemia |
| Antiplasmina deficit di | Antiplasmin deficiency |
| Antitrombina deficit di | Antithrombin deficiency |
| Disfibrinogenemia | Dysfibrinogenemia |
| Emofilia A | Hemophilia A |
| Emofilia B | Hemophilia B |
| Fattore II deficit di | Factor II deficiency |
| Fattore V deficit di | Factor V deficiency |
| Fattore V e fattore VIII deficit combinato di | Combined factor V and factor VIII deficiency |
| Fattore V Leiden e protrombina G20210A eterozigosi combinata | Factor V Leiden and prothrombin G20210A combined heterozygosity |
| Fattore V Leiden omozigote | Factor V Leiden homozygous |
| Fattore VII deficit di | Factor VII deficiency |
| Fattore X deficit di | Factor X deficiency |
| Fattore XI deficit di | Factor XI deficiency |
| Fattore XIII deficit di | Factor XIII deficiency |
| Fattori vitamina K dipendenti deficit multiplo di | Vitamin K dependent factors multiple deficiency |
| Ipofibrinogenemia | Hypofibrinogenemia |
| Plasminogeno deficit di | Plasminogen deficiency |
| Proteina C deficit di | Protein C deficiency |
| Proteina S deficit di | Protein S deficiency |
| Protrombina G20210A omozigote | Prothrombin G20210A homozygous |
| Von Willebrand malattia di | Von Willebrand's disease |
| Piastrinopatie autoimmuni primarie croniche | Chronic primary autoimmune platelet disorders |
| Porpora trombocitopenica immune cronica | Chronic immune thrombocytopenic purpura |
| Sindromi mielodisplastiche | Myelodysplastic syndromes |
| Anemie aplastiche acquisite | Acquired aplastic anemias |
| ShwachmanDiamond sindrome di | ShwachmanDiamond syndrome |
| Neutropenie congenite | Congenital neutropenias |
| Neutropenia cronica idiopatica grave | Severe idiopathic chronic neutropenia |
| Neutropenia ciclica | Cyclic neutropenia |
| Microangiopatie trombotiche | Thrombotic microangiopathies |
| Porpora trombotica trombocitopenica | Thrombotic thrombocytopenic purpura |
Articoli su iris.unipa.it relative a malattie rare reumatologiche
Ascolta
| Crioglobulinemia mista | Mixed cryoglobulinemia |
| Behcet malattia di | Behcet's disease |
| Endocardite reumatica | Rheumatic endocarditis |
| Poliangioite microscopica | Microscopic polyangiitis |
| Poliarterite nodosa | Polyarteritis nodosa |
| Granulomatosi eosinofilica con poliangite | Eosinophilic granulomatosis with polyangiitis |
| Goodpasture sindrome di | Goodpasture syndrome |
| Granulomatosi con poliangite | Granulomatosis with polyangiitis |
| Arterite a cellule giganti | Giant cell arteritis |
| Microangiopatie trombotiche | Thrombotic microangiopathies |
| Porpora trombotica trombocitopenica | Thrombotic thrombocytopenic purpura |
| Takayasu malattia di | Takayasu's disease |
| Teleangectasia emorragica ereditaria | Hereditary hemorrhagic telangiectasia |
| Budd-Chiari sindrome di | Budd-Chiari syndrome |
| Porpora di Henoch-Schoenlein ricorrente | Recurrent Henoch-Schoenlein purpura |
| Linfedemi primari cronici | Chronic primary lymphoedema |
| Linfedema ereditario di tipo 1 | Type 1 hereditary lymphedema |
| Linfedema ereditario di tipo 2 | Type 2 hereditary lymphedema |
| Linfedema idiopatico | Idiopathic lymphedema |
| Linfedema primitivo autosomico recessivo | Primary autosomal recessive lymphoedema |
| Sindrome delle unghie gialle | Yellow nail syndrome |
| Dermatomiosite | Dermatomyositis |
| Polimiosite | Polymyositis |
| Sindrome da anticorpi antisintetasi | Antisynthetase antibody syndrome |
| Connettivite mista | Mixed connectivity |
| Fascite eosinofila | Eosinophilic fasciitis |
| Fascite diffusa | Widespread fasciitis |
| Policondrite ricorrente | Recurrent polychondritis |
| Angiomatosi cistica diffusa dell’osso | Diffuse cystic angiomatosis of bone |
| Eteroplasia ossea progressiva | Progressive bone heteroplasia |
| Fibrodisplasia ossificante progressiva | Fibrodysplasia Ossificans Progressiva |
| Meloreostosi | Meloreostosis |
| Miosite a corpi inclusi | Inclusion body myositis |
| Miosite eosinofila idiopatica | Idiopathic eosinophilic myositis |
| Sclerosi sistemica progressiva | Progressive systemic sclerosis |
| Sindrome SAPHO | SAPHO syndrome |
Articoli su iris.unipa.it inerenti le malattie rare delle ghiandole endocrine
Ascolta
| Deficienza di ACTH | ACTH deficiency |
| Kallmann sindrome di | Kallmann syndrome |
| Iperaldosteronismi primitivi | Primary aldosteronisms |
| Conn sindrome di | Conn syndrome |
| Iperaldosteronismo primitivo da iperplasia surrenale | Primary aldosteronism due to adrenal hyperplasia |
| Sindromi adrenogenitali congenite | Congenital adrenogenital syndromes |
| 11-beta-idrossilasi deficit di | 11-beta-hydroxylase deficiency |
| 17-alfa-idrossilasi deficit di | 17-alpha-hydroxylase deficiency |
| 18-idrossilasi deficit di | 18-hydroxylase deficiency |
| 20,22-desmolasi deficit di | 20,22-desmolase deficiency |
| 21-idrossilasi deficit di | 21-hydroxylase deficiency |
| 3-beta-idrossi-steroido-deidrogenasi deficit di | 3-beta-hydroxy-steroid dehydrogenase deficiency |
| Citocromo P450 ossidoreduttasi deficit di | Cytochrome P450 oxidoreductase deficiency |
| STAR deficit di | STAR deficiency |
| Deficit congenito isolato di GH | Isolated congenital GH deficiency |
| Ipogonadismo ipogonadotropo congenito | Congenital hypogonadotropic hypogonadism |
| Poliendocrinopatie autoimmuni | Autoimmune polyendocrinopathies |
| Poliendocrinopatia autoimmune tipo I | Autoimmune polyendocrinopathy type I |
| Poliendocrinopatia autoimmune tipo II | Autoimmune polyendocrinopathy type II |
| Poliendocrinopatia autoimmune tipo III | Autoimmune polyendocrinopathy type III |
| Sindromi da resistenza all’ormone della crescita | Growth hormone resistance syndromes |
| Laron sindrome di | Laron syndrome |
| Pubertà precoce idiopatica | Idiopathic precocious puberty |
| Leprecaunismo | Leprechaunism |
| Kenny-Caffey sindrome di | Kenny-Caffey syndrome |
| Refetoff sindrome di | Refetoff syndrome |
| Pendred sindrome di | Pendred syndrome |
| Sindromi da neoplasie endocrine multiple | Multiple endocrine neoplasm syndromes |
| Sindrome MEN tipo 1 | MEN syndrome type 1 |
| Sindrome MEN tipo 2A | MEN syndrome type 2A |
| Sindrome MEN tipo 2B | MEN syndrome type 2B |
| Sindrome MEN tipo 4 | MEN syndrome type 4 |
Articoli su iris.unipa.it inerenti i Tumori Rari ed Eredo Familiari dell’Adulto
Ascolta
| Wilms tumore di | Wilms tumor of |
| Retinoblastoma | Retinoblastoma |
| Cronkhite-Canada malattia di | Cronkhite-Canada's disease |
| Gardner sindrome di | Gardner syndrome |
| Poliposi familiare | Familial polyposis |
| Linfoangioleiomiomatosi | Lymphangioleiomyomatosis |
| Sindrome del nevo basocellulare | Basal cell nevus syndrome |
| Neurofibromatosi | Neurofibromatosis |
| Neurofibromatosi tipo I | Neurofibromatosis type I |
| Neurofibromatosi tipo II | Neurofibromatosis type II |
| Neurofibromatosi tipo III | Neurofibromatosis type III |
| Complesso Carney | Carney complex |
| Cancro non poliposico ereditario del colon | Hereditary non-polyposis colon cancer |
| Lynch sindrome di | Lynch syndrome |
| Melanoma cutaneo familiare e/o multiplo | Familial and/or multiple cutaneous melanoma |
Articoli su iris.unipa.it inerenti le malattie rare del metabolismo
Ascolta
| Acidemia glutarica non tipizzata | Untyped glutaric acidemia |
| Acidemia glutarica tipo I (SNE) | Type I glutaric acidemia (ENS) |
| Acidemia isovalerica (SNE) | Isovaleric acidemia (ENS) |
| Acidemia metilmalonica CbIA, CbIB (SNE) | Methylmalonic acidemia CbIA, CbIB (ENS) |
| Acidemia metilmalonica non tipizzata | Untyped methylmalonic acidemia |
| Acidemia metilmalonica, CbIC , CbID (SNE) | Methylmalonic acidemia, CbIC , CbID (SNE) |
| Acidemia metilmalonica, mutasi (SNE) | Methylmalonic acidemia, mutase (EMS) |
| Acidemia propionica (SNE) | Propionic acidemia (ENS) |
| Acidemie organiche e acidosi lattiche primitive | Organic acidemias and primary lactic acidosis |
| Aciduria 2-metil 3-idrossibutirrico (SNE) | 2-Methyl 3-Hydroxybutyric aciduria (SNE) |
| Aciduria 3-idrossi 3-metilglutarica (SNE) | 3-Hydroxy 3-methylglutaric aciduria (ENS) |
| Aciduria 3-metilglutaconica (SNE) | 3-methylglutaconic aciduria (ENS) |
| Aciduria idrossiglutarica | Hydroxyglutaric aciduria |
| Aciduria malonica (SNE) | Malonic aciduria (ENS) |
| Albinismo | Albinism |
| Alcaptonuria | Alkaptonuria |
| Cistinosi | Cystinosis |
| Cistinuria | Cystinuria |
| Deficit 2-metilbutiril CoA deidrogenasi (SNE) | 2-Methylbutyryl CoA dehydrogenase (ENS) deficiency |
| Deficit 3-metilcrotonil CoA carbossilasi (SNE) | 3-Methylcrotonyl CoA carboxylase (SNE) deficiency |
| Deficit Beta-C hetotiolasi (SNE) | Beta-C hetothiolase (ENS) deficiency |
| Deficit biosintesi cofattore biopterina (SNE) | Biopterin Cofactor (SNE) Biosynthesis Deficiency |
| Deficit isobutiril CoA deidrogenasi (SNE) | Isobutyryl CoA dehydrogenase (ENS) deficiency |
| Deficit multiplo carbossilasi (SNE) | Multiple Carboxylase Deficiency (ENS) |
| Deficit piruvato carbossilasi (SNE) | Pyruvate carboxylase (ENS) deficiency |
| Deficit rigenerazione cofattore biopterina (SNE) | Biopterin Cofactor Regeneration (ENS) Deficiency |
| Encefalopatia etilmalonica (SNE) | Ethylmalonic encephalopathy (ENS) |
| Fanconi sindrome renale | Fanconi renal syndrome |
| Fenilchetonuria (SNE) | Phenylketonuria (ENS) |
| Hartnup malattia di | Hartnup's disease |
| Iminoacidemia | Iminoacidemia |
| Intolleranza alle proteine con lisinuria | Protein intolerance with lysinuria |
| Iper-Beta-Alaninemia | Hyper-Beta-Alaninemia |
| Iperfenilalaninemia non PKU (benigna) (SNE) | Non-PKU (benign) hyperphenylalaninaemia (ENS) |
| Iperglicinemia non chetotica | Non-ketotic hyperglycinemia |
| Iperistidinemia | Hyperhistidinemia |
| Iperlisinemia | Hyperlysinemia |
| Ipermetioninemia (SNE) | Hypermethioninemia (ENS) |
| Iperprolinemia | Hyperprolinaemia |
| Ipervalinemia | Hypervalinemia |
| Malattia delle urine a sciroppo di acero (SNE) | Maple syrup urine disease (ENS) |
| Omocistinuria (Omocistinuria-deficit CBS, SNE) | Homocystinuria (Homocystinuria-deficiency CBS, ENS) |
| Ornitina aminotransferasi deficit di | Ornithine aminotransferase deficiency |
| Prolidasi deficit di | Prolidase deficiency |
| Sindrome da malassorbimento di metionina | Methionine malabsorption syndrome |
| Sindrome HHH (Iperornitinemia, Iperammonemia e Omocitrullinuria) | HHH Syndrome (Hyperornithinemia, Hyperammonemia and Homocitrullinuria) |
| Tirosinemia non tipizzata | Untyped tyrosinemia |
| Tirosinemia tipo I (SNE) | Type I tyrosinemia (ENS) |
| Tirosinemia tipo II (SNE) | Type II tyrosinemia (ENS) |
| Tirosinemia tipo III (SNE) | Type III tyrosinemia (ENS) |
| Difetti congeniti del metabolismo del ciclo dell’urea e iperammoniemie ereditarie | Congenital defects of the urea cycle metabolism and hereditary hyperammonemia |
| Acidemia argininosuccinica (SNE) | Argininosuccinic acidemia (ENS) |
| Argininemia (SNE) | Argininaemia (ENS) |
| Carbamil-fosfato-sintetasi (CPS) deficit di | Carbamyl phosphate synthetase (CPS) deficiency |
| Citrullinemia tipo I (SNE) | Type I citrullinemia (ENS) |
| Citrullinemia tipo II (SNE) | Citrullinemia type II (ENS) |
| N-acetil-glutammato-sintetasi (NAGS) deficit di | N-acetyl glutamate synthetase (NAGS) deficiency |
| Ornitina transcarbamilasi (OTC ) deficit di | Ornithine transcarbamylase (OTC ) deficiency |
| Difetti congeniti del metabolismo e del trasporto dei carboidrati | Congenital defects of carbohydrate metabolism and transport |
| Aspartilglucosaminuria | Aspartylglucosaminuria |
| Deficit congenito di lattasi | Congenital lactase deficiency |
| Difetti del trasporto del glucosio | Glucose transport defects |
| Fruttosio-1,6 difosfatasi deficit di | Fructose-1,6 diphosphatase deficiency |
| Galattosemia | Galactosemia |
| Glicogenosi per deficit di fosforilasi chinasi | Glycogen storage disease due to phosphorylase kinase deficiency |
| Glicogenosi tipo 1 | Type 1 glycogen storage disease |
| Glicogenosi tipo 2 | Type 2 glycogen storage disease |
| Glicogenosi tipo 3 | Type 3 glycogen storage disease |
| Glicogenosi tipo 4 | Type 4 glycogen storage disease |
| Glicogenosi tipo 5 | Type 5 glycogen storage disease |
| Glicogenosi tipo 6 | Type 6 glycogen storage disease |
| Glicogenosi tipo 7 | Type 7 glycogen storage disease |
| Glicogenosi tipo 10 | Type 10 glycogen storage disease |
| Glicogenosi tipo 11 | Type 11 glycogen storage disease |
| Glicogenosi tipo 12 | Type 12 glycogen storage disease |
| Glicogenosi tipo 13 | Type 13 glycogen storage disease |
| Glicogeno-sintetasi deficit di | Glycogen synthetase deficiency |
| Intolleranza ereditaria al fruttosio | Hereditary fructose intolerance |
| Iperossaluria primaria | Primary hyperoxaluria |
| Malassorbimento di glucosio e galattosio | Malabsorption of glucose and galactose |
| Malattia da corpi poliglucosani | Polyglucosan body disease |
| Saccarasi isomaltasi deficit di | Sucrase isomaltase deficiency |
| Iperinsulinismi congeniti | Congenital hyperinsulinisms |
| Difetti congeniti del metabolismo delle lipoproteine | Congenital defects of lipoprotein metabolism |
| Abetalipoproteinemia | Abetalipoproteinemia |
| Beta ossidazione deficit di | Beta oxidation deficiency |
| Carnitina muscolare deficit di | Muscle carnitine deficiency |
| Deficit familiare di lipasi lipoproteica | Familial lipoprotein lipase deficiency |
| Ipercolesterolemia familiare omozigote | Homozygous familial hypercholesterolaemia |
| Ipertrigliceridemia familiare | Familial hypertriglyceridemia |
| Ipoalfalipoproteinemia familiare | Familial hypoalphalipoproteinemia |
| Ipobetalipoproteinemia familiare | Familial hypobetalipoproteinemia |
| Lecitina-Colesterolo-Aciltransferasi deficit di | Lecithin-cholesterol-acyltransferase deficiency |
| Tangier malattia di | Tangier's disease |
| Difetti congeniti della sintesi del colesterolo | Congenital defects of cholesterol synthesis |
| Smith-Lemli-Opitz sindrome di | Smith-Lemli-Opitz syndrome |
| Difetti congeniti della sintesi degli acidi biliari | Congenital defects of bile acid synthesis |
| CoA ligasi degli acidi biliari deficit di | CoA ligase bile acid deficiency |
| Difetto congenito della sintesi degli acidi biliari tipo 1 | Congenital defect of bile acid synthesis type 1 |
| Difetto congenito della sintesi degli acidi biliari tipo 2 | Congenital defect of bile acid synthesis type 2 |
| Difetto congenito della sintesi degli acidi biliari tipo 3 | Congenital defect of bile acid synthesis type 3 |
| Difetto congenito della sintesi degli acidi biliari tipo 4 | Congenital defect of bile acid synthesis type 4 |
| Ipercolanemia familiare | familial hypercholanemia |
| Xantomatosi cerebrotendinea | Cerebrotendinous xanthomatosis |
| Difetti congeniti della sintesi dei fosfolipidi e dei glicosfingolipidi | Congenital defects of the synthesis of phospholipids and glycosphingolipids |
| Sindrome PHARC | PHARC syndrome |
| Lipodistrofia totale | Total lipodystrophy |
| Dercum malattia di | Dercum's disease |
| Malattie perossisomiali | Peroxisomal diseases |
| Acidemia pipecolica | Pipecolic acidemia |
| Condrodisplasia punctata rizomelica | Rhizomelic chondrodysplasia punctata |
| Adrenoleucodistrofia | Adrenoleukodystrophy |
| Zellweger sindrome di | Zellweger syndrome |
| Difetti congeniti del metabolismo dei neurotrasmettitori e dei piccoli peptidi | Congenital defects of neurotransmitter and small peptide metabolism |
| Dopamina beta-idrossilasi deficit di | Dopamine beta-hydroxylase deficiency |
| Iperekplexia ereditaria | Hereditary hyperekplexia |
| Difetti congeniti del metabolismo delle porfirine e dell’EME | Congenital defects of metabolism of porphyrins and heme |
| Coproporfiria ereditaria | Hereditary coproporphyria |
| Porfiria acuta intermittente | Acute intermittent porphyria |
| Porfiria cutanea tarda | Porphyria Cutanea Tarda |
| Porfiria da deficit di ALAD | ALAD-deficiency porphyria |
| Porfiria eritropoietica congenita | Congenital erythropoietic porphyria |
| Porfiria eritropoietica epatica | Hepatic erythropoietic porphyria |
| Porfiria variegata | variegated porphyria |
| Protoporfiria eritropoietica | Erythropoietic protoporphyria |
| Difetti congeniti del metabolismo delle purine e delle pirimidine | Congenital defects of purine and pyrimidine metabolism |
| Adenilsuccinasi deficit di | Adenylsuccinase deficiency |
| Adenina-fosforibosil-transferasi deficit di | Adenine phosphoribosyl transferase deficiency |
| Diidropirimidina deidrogenasi deficit di | Dihydropyrimidine dehydrogenase deficiency |
| Lesch-Nyhan malattia di | Lesch-Nyhan disease |
| Oroticoaciduria | Orotic aciduria |
| Xantinuria | Xanthinuria |
| Ipofosfatasia | Hypophosphatasia |
| Calcinosi tumorale | Tumor calcinosis |
| Difetti congeniti della ossidazione mitocondriale degli acidi grassi | Congenital defects of mitochondrial oxidation of fatty acids |
| Acidemia glutarica tipo II (SNE) | Type II glutaric acidemia (ENS) |
| Deficit 3-idrossiacil CoA deidrogenasi a catena media-corta (SNE) | Medium-short chain 3-hydroxyacyl CoA dehydrogenase (SNE) deficiency |
| Deficit carnitina-acilcarnitinatranslocasi (SNE) | Carnitine-acylcarnitine translocase (ENS) deficiency |
| Deficit chetoacil CoA deidrogenasi a catena media (SNE) | Medium Chain Ketoacyl CoA Dehydrogenase (ENS) Deficiency |
| Deficit del trasporto carnitina (SNE) | Carnitine transport deficiency (ENS) |
| Deficit di acil-CoA deidrogenasi a catena corta, SCAD (SNE) | Short-chain acyl-CoA dehydrogenase deficiency, SCAD (SNE) |
| Deficit di acil-CoA deidrogenasi a catena media, MCAD (SNE) | Medium-chain acyl-CoA dehydrogenase, MCAD (SNE) deficiency |
| Deficit di carnitina palmitoil-transferasi (SNE) | Carnitine palmitoyl transferase (ENS) deficiency |
| Deficit di carnitina palmitoil-transferasi II (SNE) | Carnitine palmitoyl transferase II (ENS) deficiency |
| Deficit di carnitina palmitoil-transferasi non tipizzato | Carnitine palmitoyl transferase deficiency not typed |
| Deficit dienoil reduttasi (SNE) | Dienoyl reductase (SNE) deficiency |
| Deficit idrossiacilC oA deidrogenasi a catena lunga, LCAD (SNE) | Long-chain hydroxyacylC oA dehydrogenase deficiency, LCAD (SNE) |
| Deficit idrossiacilC oA deidrogenasi a catena molto lunga, VLC AD (SNE) | Very long chain hydroxyacylC oA dehydrogenase deficiency, VLC AD (ENS) |
| Deficit proteina trifunzionale (SNE) | Trifunctional protein deficiency (ENS) |
| Difetti congeniti della chetogenesi e della chetolisi | Congenital defects of ketogenesis and ketolysis |
| Alfa metil acetoacetilC oA tiolasi deficit di | Alpha methyl acetoacetylC oA thiolase deficiency |
| Difetti congeniti del metabolismo del piruvato e del ciclo degli acidi tricarbossilici | Congenital defects of pyruvate metabolism and the tricarboxylic acid cycle |
| Piruvato deidrogenasi fosfatasi deficit di | Pyruvate dehydrogenase phosphatase deficiency |
| Difetti congeniti isolati di un complesso della fosforilazione ossidativa mitocondriale | Isolated birth defects of a mitochondrial oxidative phosphorylation complex |
| Citocromo Cossidasi deficit di | Cytochrome Cossidase deficiency |
| Difetti congeniti della fosforilazione ossidativa mitocondriale da alterazioni del DNA mitocondriale | Congenital defects of mitochondrial oxidative phosphorylation due to mitochondrial DNA alterations |
| Oftalmoplegia esterna progressiva | Progressive external ophthalmoplegia |
| Sindrome NARP | NARP syndrome |
| MELAS sindrome | MELAS syndrome |
| MERRF sindrome | MERRF syndrome |
| Atrofia ottica di Leber | Leber optic atrophy |
| Pearson sindrome di | Pearson syndrome |
| Alpers malattia di | Alpers disease |
| KearnsSayre sindrome di | Kearns Sayre syndrome |
| Difetti della fosforilazione ossidativa mitocondriale da alterazioni del DNA nucleare | Mitochondrial oxidative phosphorylation defects due to nuclear DNA alterations |
| Deficit del coenzima Q10 | Coenzyme Q10 deficiency |
| Leigh malattia di | Leigh's disease |
| Sindromi da deficit congenito di creatina | Syndromes of congenital deficiency of creatine |
| Guanidinoacetato-metiltransferasi (GAMT) deficit di | Guanidinoacetate methyltransferase (GAMT) deficiency |
| Altri difetti congeniti del metabolismo energetico mitocondriale | Other congenital defects of mitochondrial energy metabolism |
| Deficit congenito del trasportatore mitocondriale di aspartato-glutammato tipo 1 | Congenital deficiency of the mitochondrial aspartate-glutamate transporter type 1 |
| Difetti da accumulo di lipidi | Lipid storage defects |
| Chanarin-Dorfman malattia di | Chanarin-Dorfman disease |
| Esteri del colesterolo malattia da accumulo di | Cholesterol foreign storage disease |
| Fabry malattia di | Fabry disease |
| Gaucher malattia di | Gaucher's disease |
| NiemannPick malattia di | NiemannPick's disease |
| Mucopolisaccaridosi | Mucopolysaccharidosis |
| Mucopolisaccaridosi non tipizzata | Untyped mucopolysaccharidosis |
| Mucopolisaccaridosi tipo 1 | Mucopolysaccharidosis type 1 |
| Mucopolisaccaridosi tipo 2 | Mucopolysaccharidosis type 2 |
| Mucopolisaccaridosi tipo 3 | Mucopolysaccharidosis type 3 |
| Mucopolisaccaridosi tipo 4 | Mucopolysaccharidosis type 4 |
| Mucopolisaccaridosi tipo 6 | Mucopolysaccharidosis type 6 |
| Mucopolisaccaridosi tipo 7 | Mucopolysaccharidosis type 7 |
| Mucopolisaccaridosi tipo 9 | Mucopolysaccharidosis type 9 |
| Mucolipidosi | Mucolipidosis |
| Mucolipidosi tipo 2 | Mucolipidosis type 2 |
| Mucolipidosi tipo 3 | Mucolipidosis type 3 |
| Mucolipidosi tipo 4 | Mucolipidosis type 4 |
| Oligosaccaridosi | Oligosaccharidosis |
| Fucosidosi | Fucosidosis |
| Galattosialidosi | Galactosialidosis |
| Malattia da accumulo di acido sialico | Sialic acid storage disease |
| Mannosidosi | Mannosidosis |
| Schindler malattia di | Schindler's disease |
| Sialidosi | Sialidosis |
| Gangliosidosi | Gangliosidosis |
| Gangliosidosi-GM1 | Gangliosidosis-GM1 |
| Gangliosidosi-GM2 | Gangliosidosis-GM2 |
| Ceroido-lipofuscinosi | Ceroid lipofuscinosis |
| Altre malattie da accumulo lisosomiale | Other lysosomal storage diseases |
| Austin sindrome di | Austin syndrome |
| Wolman malattia di | Wolman's disease |
| Farber malattia di | Farber's disease |
| Difetti congeniti responsivi alla biotina | Congenital defects responsive to biotin |
| Difetti congeniti del metabolismo e del trasporto della cobalamina e del folato | Congenital defects of cobalamin and folate metabolism and transport |
| Cobalamina C deficit congenito di | Cobalamin C congenital deficiency |
| Difetti congeniti del metabolismo e del trasporto della vitamina D | Congenital defects of vitamin D metabolism and transport |
| Rachitismo vitamina D dipendente tipo 1 | Vitamin D dependent rickets type 1 |
| Rachitismo ipofosfatemico vitamina D resistente | Vitamin D resistant hypophosphatemic rickets |
| Altri difetti congeniti del metabolismo e del trasporto di vitamine e cofattori non proteici | Other inborn errors of metabolism and transport of vitamins and non-protein cofactors |
| 5-piridossamina fosfato ossidasi deficit di | 5-pyridoxamine phosphate oxidase deficiency |
| Difetti congeniti del metabolismo e del trasporto del ferro | Congenital defects of iron metabolism and transport |
| DMT1 deficit di | DMT1 deficiency |
| Emocromatosi ereditaria non determinata | Undetermined hereditary hemochromatosis |
| Emocromatosi ereditaria tipo 1 | Hereditary hemochromatosis type 1 |
| Emocromatosi ereditaria tipo 2A | Hereditary hemochromatosis type 2A |
| Emocromatosi ereditaria tipo 2B | Hereditary hemochromatosis type 2B |
| Emocromatosi ereditaria tipo 3 | Hereditary hemochromatosis type 3 |
| Emocromatosi ereditaria tipo 4 | Hereditary hemochromatosis type 4 |
| IRIDA (Iron Refractory Iron Deficiency Anemia) | IRIDA (Iron Refractory Iron Deficiency Anemia) |
| Sindrome iperferritinemia-cataratta | Hyperferritinemia-cataract syndrome |
| Aceruloplasminemia congenita | Congenital aceruloplasminemia |
| Atransferrinemia congenita | Congenital atransferrinemia |
| Difetti congeniti del metabolismo e del trasporto dello zinco | Congenital defects of zinc metabolism and transport |
| Deficienza congenita di zinco | Congenital zinc deficiency |
| Difetti congeniti del metabolismo del rame | Congenital defects of copper metabolism |
| Menkes sindrome di | Menkes syndrome |
| Wilson malattia di | Wilson's disease |
| Altri difetti congeniti del metabolismo e del trasporto dei metalli | Other congenital defects of metal metabolism and transport |
| Ipomagnesemia ereditaria primitiva | Primary hereditary hypomagnesaemia |
| Amiloidosi sistemiche | Systemic amyloidosis |
| Crigler-Najjar sindrome di | Crigler-Najjar syndrome |
Articoli su iris.unipa.it inerenti le Malattie Rare del Sistema Osteomuscolare e del tessuto connettivo
Ascolta
| Dermatomiosite | Dermatomyositis |
| Polimiosite | Polymyositis |
| Sindrome da anticorpi antisintetasi | Antisynthetase antibody syndrome |
| Connettivite mista | Mixed connectivity |
| Fascite eosinofila | Eosinophilic fasciitis |
| Fascite diffusa | Widespread fasciitis |
| Policondrite ricorrente | Recurrent polychondritis |
| Angiomatosi cistica diffusa dell’osso | Diffuse cystic angiomatosis of bone |
| Eteroplasia ossea progressiva | Progressive bone heteroplasia |
| Fibrodisplasia ossificante progressiva | Fibrodysplasia Ossificans Progressiva |
| Meloreostosi | Meloreostosis |
| Miosite a corpi inclusi | Inclusion body myositis |
| Miosite eosinofila idiopatica | Idiopathic eosinophilic myositis |
| Sclerosi sistemica progressiva | Progressive systemic sclerosis |
| Sindrome SAPHO | SAPHO syndrome |
Articoli su iris.unipa.it inerenti le Malattie rare della cute e del tessuto sottocutaneo
Ascolta
| Eritrocheratolisi hiemalis | Erythrokeratolysis hiemalis |
| Dermatite erpetiforme | Dermatitis herpetiformis |
| Pemfigo | Pemphigus |
| Pemfigoide bolloso | Bullous pemphigoid |
| Pemfigoide benigno delle mucose | Benign mucous membrane pemphigoid |
| Lichen sclerosus et atrophicus | Lichen sclerosus and atrophicus |
| Sindrome Michelin tire baby | Michelin tire baby syndrome |
| Sclerosi cutanea diffusa ad alta gravità clinica | Diffuse cutaneous sclerosis of high clinical severity |
| Pioderma gangrenoso cronico | Chronic pyoderma gangrenosum |
| Sindromi con displasia ectodermica | Syndromes with ectodermal dysplasia |
| Displasia ectodermica ipoidrotica | Hypohidrotic ectodermal dysplasia |
| Displasia neuroectodermica tipo CHIME | CHIME-type neuroectodermal dysplasia |
| Ectrodattilia-Displasia ectodermica-Palatoschisi | Ectrodactyly-Ectodermal dysplasia-Cleft palate |
| Discheratosi congenita | Congenital dyskeratosis |
| Ipomelanosi di Ito | Ito's hypomelanosis |
| Ipoplasia focale dermica | Dermal focal hypoplasia |
| Incontinentia pigmenti | Incontinentia pigmenti |
| Sindrome tricodento-ossea | Tricodental-osseous syndrome |
| Ittiosi congenite | Congenital ichthyosis |
| Ittiosi cheratinopatica | Keratinopathic ichthyosis |
| Ittiosi congenita autosomico recessiva | Autosomal recessive congenital ichthyosis |
| Ittiosi ereditaria non sindromica non altrimenti specificata | Nonsyndromic hereditary ichthyosis not otherwise specified |
| Ittiosi volgare, forme gravi | Vulgar ichthyosis, severe forms |
| Ittiosi X-linked | X-linked ichthyosis |
| Netherton sindrome di | Netherton syndrome |
| Ipercheratosi epidermolitica | Epidermolytic hyperkeratosis |
| Kid sindrome | Kid syndrome |
| Cutis Laxa | Cutis Laxa |
| Cheratodermie palmoplantari ereditarie | Hereditary palmoplantar keratodermas |
| Xeroderma pigmentoso | Xeroderma pigmentosum |
| Cheratosi follicolare acuminata | Follicular keratosis acuminata |
| Cute marmorea teleangectasica congenita | Congenital telangiectatic marmoreal skin |
| Darier malattia di | Darier's disease |
| Epidermolisi bollosa ereditaria | Hereditary epidermolysis bullosa |
| Eritrocheratodermia simmetrica progressiva | Progressive symmetrical erythrokeratoderma |
| Eritrocheratodermia variabile | Variable erythrokeratoderma |
| Pachidermoperiostosi | Pachydermoperiostosis |
| Pseudoxantoma elastico | Pseudoxanthoma elastic |
| Aplasia congenita della cute | Congenital aplasia of the cutis |
| HayWells sindrome di | HayWells Syndrome |
| Neu-Laxova sindrome di | Neu-Laxova syndrome |
| Sindrome del nevo displastico | Dysplastic nevus syndrome |
| Sindrome del nevo epidermico | Epidermal nevus syndrome |
| SjógrenLarsonn sindrome di | SjógrenLarsonn syndrome |
| Tay sindrome di | Tay syndrome |
Articoli su iris.unipa.it inerenti le Malformazioni congenite, sindromi genetiche e cromosomopatie
Ascolta
| Arnold-Chiari sindrome di | Arnold-Chiari syndrome |
| Microcefalia isolata o sindromica | Isolated or syndromic microcephaly |
| Agenesia cerebellare | Cerebellar agenesis |
| Joubert sindrome di | Joubert syndrome |
| Lissencefalia isolata o sindromica | Isolated or syndromic lissencephaly |
| Oloprosencefalia isolata o sindromica | Isolated or syndromic holoprosencephaly |
| Agenesia/disgenesia del corpo calloso in forma isolata o sindromica | Isolated or syndromic agenesis/dysgenesis of the corpus callosum |
| Andermann sindrome di | Andermann syndrome |
| Dandy-Walker sindrome di | Dandy-Walker syndrome |
| Aase-Smith sindrome di | Aase-Smith syndrome |
| Neuroacantocitosi | Neuroacanthocytosis |
| Sindrome acrocallosa | Acrocallosal syndrome |
| Walker-Warburg sindrome di | Walker-Warburg syndrome |
| Ben Ari-Shuper-Mimouni sindrome di | Ben Ari-Shuper-Mimouni syndrome |
| Bonnemann-Meinecke sindrome di | Bonnemann-Meinecke syndrome |
| Displasia cerebro-facio-toracica | Cerebrofaciothoracic dysplasia |
| Sindrome idroletale | Hydrolethal syndrome |
| TorielloC arey sindrome di | TorielloC arey syndrome |
| Gerstmann sindrome di | Gerstmann syndrome |
| Lenz sindrome di | Lenz syndrome |
| Sindrome anoftalmia plus | Anophthalmia plus syndrome |
| Foix-Chavany-Marie sindrome di | Foix-Chavany-Marie syndrome |
| Axenfeld-Rieger anomalia di | Axenfeld-Rieger anomaly of |
| Axenfeld-Rieger sindrome di | Axenfeld-Rieger syndrome |
| Peters anomalia di | Peters anomaly of |
| Aniridia | Aniridia |
| Coloboma congenito oculare isolato o sindromico | Isolated or syndromic congenital ocular coloboma |
| Coloboma congenito corioretinico | Congenital chorioretinal coloboma |
| Coloboma congenito dell’iride | Congenital coloboma of the iris |
| Coloboma congenito del disco ottico | Congenital coloboma of the optic disc |
| Morning glory anomalia di | Morning glory anomaly of |
| Persistenza della membrana pupillare | Persistence of the pupillary membrane |
| Norrie malattia di | Norrie's disease |
| Vogt-Koyanagi-Harada sindrome di | Vogt-Koyanagi-Harada syndrome |
| Displasia setto-ottica | Septo-optic dysplasia |
| Fraser sindrome di | Fraser syndrome |
| Weill-Marchesani sindrome di | Weill-Marchesani syndrome |
| Aicardi sindrome di | Aicardi syndrome |
| Baraitser-Winter sindrome di | Baraitser-Winter syndrome |
| Nance-Horan sindrome di | Nance-Horan syndrome |
| Sindrome cerebrooculo-nasale | Cerebrooculonasal syndrome |
| Sindrome CODAS | CODAS syndrome |
| Sindromi con craniosinostosi | Syndromes with craniosynostosis |
| Acrocefalosindattilia | Acrocephalosyndactyly |
| Apert sindrome di | Open syndrome |
| C sindrome | C syndrome |
| Goodman sindrome di | Goodman syndrome |
| Hallerman-Streiff sindrome di | Hallerman-Streiff syndrome |
| Pierre-Robin sindrome di | Pierre-Robin syndrome |
| Treacher-Collins sindrome di | Treacher-Collins syndrome |
| Antley-Bixler sindrome di | Antley-Bixler syndrome |
| Baller-Gerold sindrome di | Baller-Gerold syndrome |
| Carpenter sindrome di | Carpenter syndrome |
| Pfeiffer sindrome di | Pfeiffer syndrome |
| Summitt sindrome di | Summitt syndrome |
| Jackson-Weiss sindrome di | Jackson-Weiss syndrome |
| Nager sindrome di | Nager syndrome |
| Cranio-fronto-nasale sindrome | Craniofrontonasal syndrome |
| Craniosinostosi primaria | Primary craniosynostosis |
| Crouzon malattia di | Crouzon's disease |
| Disostosi cleidocranica | Cleidocranial dysostosis |
| Disostosi mandibolofacciale | Mandibulofacial dysostosis |
| Disostosi maxillofacciale | Maxillofacial dysostosis |
| Displasia frontofacionasale | Frontofaceonasal dysplasia |
| Displasia mandibolo-acrale | Mandibulacral dysplasia |
| Displasia maxillonasale | Maxillonasal dysplasia |
| Palatoschisi isolata o sindromica | Isolated or syndromic cleft palate |
| Mohr malattia di | Mohr's disease |
| Moebius sindrome di | Moebius syndrome |
| Oculofaciocardiodentale sindrome | Oculofaciocardiodental syndrome |
| Oro-facio-digitale sindrome di tipo 1 | Oro-facio-digitalis syndrome type 1 |
| Schinzel-Giedion sindrome di | Schinzel-Giedion syndrome |
| Goldenhar sindrome di | Goldenhar syndrome |
| Sindrome cefalopolisindattilia di Greig | Greig's cephalopolysyndactyly syndrome |
| Sindrome oto-palato-digitale | Oto-palato-digital syndrome |
| Focomelia | Phocomelia |
| Deformità di Sprengel | Sprengel deformity |
| Camptodattilia familiare | Familial camptodactyly |
| Poland sindrome di | Poland syndrome |
| Sindrome femoro-facciale | Femoral facial syndrome |
| Sindromi con artrogriposi multiple congenite | Syndromes with congenital arthrogryposis multiplex |
| Roberts sindrome di | Roberts syndrome |
| Sindrome trisma pseudocamptodattilia | Trismus pseudocamptodactyly syndrome |
| Freeman-Sheldon sindrome di | Freeman-Sheldon syndrome |
| Sequenza da ipocinesia fetale | Sequence from fetal hypokinesia |
| Sindrome da pterigi multipli | Multiple pterygia syndrome |
| principale | principal |
| Sindrome RAPADILINO | RAPADILINO syndrome |
| Sequenza sirenomelica | Sirenomela sequence |
| Adams-Oliver sindrome di | Adams-Oliver syndrome |
| Sindrome trombocitopenica con aplasia del radio | Thrombocytopenic syndrome with radial aplasia |
| Cuore criss-cross | Criss cross heart |
| Ebstein anomalia di | Ebstein anomaly of |
| Sindrome del cuore sinistro ipoplasico | Hypoplastic left heart syndrome |
| Blue rubber bleb nevus | Blue rubber bleb nevus |
| Ivemark sindrome di | Ivemark syndrome |
| Klippel-Trenaunay sindrome di | Klippel-Trenaunay syndrome |
| Aneurisma della vena di Galeno | Aneurysm of the vein of Galen |
| Malformazione arterovenosa cerebrale | Cerebral arteriovenous malformation |
| Malformazione cavernosa cerebrale ereditaria | Hereditary cerebral cavernous malformation |
| Malformazione cranica del seno durale | Cranial malformation of the dural sinus |
| Sindrome CLOVE | CLOVE syndrome |
| Sindrome con malformazione dei capillari e malformazione arterovenosa (CMAVM) | Capillary malformation arteriovenous malformation syndrome (MAVM) |
| Sindrome metamerica arterovenosa cerebrofacciale | Cerebrofacial arteriovenous metameric syndrome |
| Klippel-Feil sindrome di | Klippel-Feil syndrome |
| Gastroschisi | Gastroschisis |
| Sindrome Prune Belly | Prune Belly Syndrome |
| Onfalocele | Omphalocele |
| Pentalogia di Cantrell | Cantrell pentalogy |
| Malformazione ano-rettale in forma isolata o sindromica | Anorectal malformation in isolated or syndromic form |
| Hirschsprung malattia di | Hirschsprung's disease |
| Goldberg-Shprintzen sindrome di | Goldberg-Shprintzen syndrome |
| Atresia biliare | Biliary atresia |
| Caroli malattia di | Caroli's disease |
| Malattia del fegato policistico | Polycystic liver disease |
| Atresia ileale | Ileal atresia |
| Atresia colica | Colic atresia |
| Atresia intestinale multipla | Multiple intestinal atresia |
| Cloaca persistente | Persistent cloaca |
| Duplicazioni del tubo digerente | Duplications of the digestive tract |
| Complesso OEIS | OEIS complex |
| Atresia esofagea e/o fistola – tracheoesofagea | Esophageal atresia and/or tracheoesophageal fistula |
| Atresia del digiuno | Fasting atresia |
| Atresia o stenosi duodenale | Atresia or duodenal stenosis |
| Ipoplasia/Aplasia della muscolatura della parete gastrica | Hypoplasia/Aplasia of the muscles of the gastric wall |
| Microgastria | Microgastria |
| Sindrome dell’intestino corto congenito | Congenital short bowel syndrome |
| Rene con midollare a spugna | Kidney with medullary sponge |
| Malattia renale cistica genetica | Genetic cystic kidney disease (excluded: autosomal dominant polycystic kidney) |
| Senior-Loken sindrome di | Senior-Loken syndrome |
| Rene policistico autosomico recessivo | Autosomal recessive polycystic kidney disease |
| Meckel sindrome di | Meckel syndrome |
| Estrofia vescicale | Bladder exstrophy |
| Gonadico e/o fenotipo | Gonadal and/or phenotype |
| Disgenesia gonadica | gonadal dysgenesis |
| Perrault sindrome di | Perrault syndrome |
| Sindrome da insensibilità completa agli androgeni | Complete androgen insensitivity syndrome |
| Sindrome da insensibilità parziale agli androgeni | Partial androgen insensitivity syndrome |
| Pseudoermafroditismi | Pseudohermaphroditism |
| Denys Drash sindrome di | Denys Drash Syndrome |
| Ermafroditismo vero | True hermaphroditism |
| cariotipo/sviluppo gonadico e/o fenotipo | karyotype/gonadal development and/or phenotype |
| Frasier sindrome di | Frasier syndrome |
| Sindrome SERKAL | SERKAL syndrome |
| Afallia | Afallia |
| Epispadia | Epispadias |
| Megalouretra | Megalourethra |
| Mayer Rokitansky Kuster Hauser sindrome di | Mayer Rokitansky Kuster Hauser syndrome |
| Acrodisostosi | Acrodysostosis |
| Sindrome da regressione caudale | Caudal regression syndrome |
| Acondrogenesi | Achondrogenesis |
| Acondroplasia | Achondroplasia |
| Condrodisplasia letale | Lethal chondrodysplasia |
| Condrodisplasia metafisaria | Metaphyseal chondrodysplasia |
| Condrodisplasia tipo Blomstrand | Chondrodysplasia Blomstrand type |
| Condrodistrofia congenita non tipizzata | Untyped congenital chondrodystrophy |
| Desbuquois sindrome di | Desbuquois syndrome |
| Displasia acromicrica | Achromic dysplasia |
| Displasia epifisaria emimelica | Hemimelic epiphyseal dysplasia |
| Displasia metatropica | Metatropic dysplasia |
| Displasia otospondilomegaepifisaria | Otospondylomegaepiphyseal dysplasia |
| Displasia pseudoreumatoide progressiva | Progressive pseudorheumatoid dysplasia |
| Distrofia toracica asfissiante | Asphyxiating thoracic dystrophy |
| Encondromatosi multipla | Multiple enchondromatosis |
| Esostosi multipla | Multiple exostosis |
| Ipocondroplasia | Hypochondroplasia |
| Keutel sindrome di | Keutel syndrome |
| Kniest displasia | Kniest dysplasia |
| Larsen sindrome di | Larsen syndrome |
| Schwartz-J ampel sindrome di | Schwartz-J ampel syndrome |
| Sindrome camptomelica | Camptomelic syndrome |
| Atelosteogenesi | Atelosteogenesis |
| Buschke-Ollendorff sindrome di | Buschke-Ollendorff syndrome |
| Conradi Hunermann Happle sindrome di | Conradi Hunermann Happle syndrome |
| Discondrosteosi | dyschondrosteosis |
| Displasia craniometafisaria | Craniometaphyseal dysplasia |
| Displasia diastrofica e pseudodiastrofica | Diastrophic and pseudodiastrophic dysplasia |
| Displasia fibrosa | Fibrous dysplasia |
| Displasia gnatodiafisaria | Gnathodiaphyseal dysplasia |
| Displasia spondiloepifisaria | Spondyloepiphyseal dysplasia |
| Displasia spondilometafisaria | Spondylometaphyseal dysplasia |
| Ellis-van Creveld sindrome di | Ellis-van Creveld syndrome |
| Engelmann malattia di | Engelmann's disease |
| Fairbank malattia di | Fairbank's disease |
| Frank-Ter Haar sindrome di | Frank-Ter Haar Syndrome |
| Hajdu Cheney sindrome di | Hajdu Cheney syndrome |
| Mc Cune Albright sindrome di | McCune Albright Syndrome |
| Osteodistrofia congenita non tipizzata | Untyped congenital osteodystrophy |
| Osteogenesi imperfetta | Osteogenesis imperfecta |
| Osteopetrosi | Osteopetrosis |
| Picnodisostosi | Pycnodysostosis |
| Sindrome DOOR | DOOR syndrome |
| Sindrome osteoporosi-pseudoganglioma | Osteoporosis-pseudoganglioma syndrome |
| Maffucci sindrome di | Maffucci syndrome |
| Displasia spondiloepifisaria congenita | Congenital spondyloepiphyseal dysplasia |
| Dyggve Melchior Clausen (DMC ) sindrome di | Dyggve Melchior Clausen (DMC ) syndrome |
| Jarcho-Levin sindrome di | Jarcho-Levin syndrome |
| Sindromi da aneuploidia cromosomica | Chromosomal aneuploidy syndromes |
| Turner sindrome di | Turner syndrome |
| Pallister-Killian sindrome di | Pallister-Killian syndrome |
| Sindrome del Cri Du Chat | Cri Du Chat Syndrome |
| WAGR sindrome di | WAGR syndrome |
| Williams sindrome di | Williams syndrome |
| Wolf-Hirschhorn sindrome di | Wolf-Hirschhorn syndrome |
| Sindrome del cromosoma X fragile | Fragile X chromosome syndrome |
| Loeys-Dietz sindrome di | Loeys-Dietz syndrome |
| Shprintzen-Goldberg sindrome di | Shprintzen-Goldberg syndrome |
| Marfan sindrome di | Marfan syndrome |
| Ehlers Danlos sindrome di | Ehlers Danlos Syndrome |
| Stickler sindrome di | Stickler syndrome |
| Nanismo osteodisplastico microcefalico primitivo (MOPD) | Primary microcephalic osteodysplastic dwarfism (MOPD) |
| Aarskog sindrome di | Aarskog syndrome |
| Dubowitz sindrome di | Dubowitz syndrome |
| Robinow sindrome di | Robinow syndrome |
| Russell Silver sindrome di | Russell Silver Syndrome |
| Seckel sindrome di | Seckel syndrome |
| SHORT sindrome | SHORT syndrome |
| Emiipertrofia congenita | Congenital hemihypertrophy |
| Beckwith-Wiedemann sindrome di | Beckwith-Wiedemann syndrome |
| Sotos sindrome di | Sotos syndrome |
| Weaver sindrome di | Weaver syndrome |
| Simpson-Golabi-Behmel sindrome di | Simpson-Golabi-Behmel syndrome |
| Marshall-Smith sindrome di | Marshall-Smith syndrome |
| sindromi note) | known syndromes) |
| Alagille sindrome di | Alagille syndrome |
| Alstrom sindrome di | Alstrom syndrome |
| Amartomatosi multiple | Multiple hamartomatosis |
| Bannayan-Zonana sindrome di | Bannayan-Zonana syndrome |
| BirtHoggDubè sindrome di | BirtHoggDub's syndrome |
| Complesso di Von Meyenburg | Von Meyenburg complex |
| Cowden malattia di | Cowden's disease |
| Sclerosi tuberosa | Tuberous sclerosis |
| Peutz-J eghers sindrome di | Peutz-J eghers syndrome |
| Sturge-Weber sindrome di | Sturge-Weber syndrome |
| Von Hippel-Lindau sindrome di | Von Hippel-Lindau syndrome |
| Sindrome proteus | Proteus syndrome |
| Angelman sindrome di | Angelman syndrome |
| Associazione VACTERL/VATER | VACTERL/VATER association |
| Bardet-Biedl sindrome di | Bardet-Biedl syndrome |
| Bloom sindrome di | Bloom syndrome |
| Borjeson-Forssman-Lehmann sindrome di | Borjeson-Forssman-Lehmann syndrome |
| Char sindrome di | Char syndrome |
| Coffin-Lowry sindrome di | Coffin-Lowry syndrome |
| Coffin-Siris sindrome di | Coffin-Siris syndrome |
| Cohen sindrome di | Cohen syndrome |
| Cornelia De Lange sindrome di | Cornelia De Lange Syndrome |
| Costello sindrome di | Costello syndrome |
| Noonan sindrome di | Noonan syndrome |
| Sindrome cardiofaciocutanea | Cardiofaciocutaneous syndrome |
| Leopard sindrome | Leopard syndrome |
| De Sanctis Cacchione malattia di | De Sanctis Cacchione disease of |
| Displasia oculo-digito-dentale | Oculo-digital-dental dysplasia |
| Filippi sindrome di | Philippi syndrome |
| Sindrome FG | FG syndrome |
| Fine-Lubinsky sindrome di | Fine-Lubinsky syndrome |
| Fryns sindrome di | Fryns syndrome |
| Hermansky-Pudlak sindrome di | Hermansky-Pudlak syndrome |
| Holt-Oram sindrome di | Holt-Oram syndrome |
| LevyHollister sindrome di | LevyHollister syndrome |
| Lowe sindrome di | Lowe syndrome |
| Mainzer-Saldino sindrome di | Mainzer-Saldino syndrome |
| Marshall sindrome di | Marshall syndrome |
| Opitz sindrome di | Opitz syndrome |
| Pallister-Hall sindrome di | Pallister-Hall syndrome |
| Pallister-W sindrome di | Pallister-W syndrome |
| Parry-Romberg sindrome di | Parry-Romberg syndrome |
| Prader-Willi sindrome di | Prader-Willi syndrome |
| Rubinstein-Taybi sindrome di | Rubinstein-Taybi syndrome |
| Sindrome branchio-oculo-facciale | Branchio-oculo-facial syndrome |
| Sindrome branchio-oto-renale | Branchio-oto-renal syndrome |
| Sindrome cardiofacciale di Cayler | Cayler's cardiofacial syndrome |
| Sindrome cerebrocostomandibolare | Cerebrocostomandibular syndrome |
| Sindrome cerebrooculo-facio-scheletrica | Cerebrooculofacioskeletal syndrome |
| CHARGE associazione | CHARGE association |
| Sindrome Kabuki | Kabuki syndrome |
| Sindrome megalocornea-ritardo mentale | Megalocornea-mental retardation syndrome |
| Sindrome nail-patella | Nail-patella syndrome |
| Sindrome oculo-cerebro-cutanea | Oculocerebrocutaneous syndrome |
| Sindromi progeroidi | Progeroid syndromes |
| Hutchinson-Gilford sindrome di | Hutchinson-Gilford syndrome |
| Poichiloderma congenito | Congenital poikiloderma |
| Wiedemann-Rautenstrauch sindrome di | Wiedemann-Rautenstrauch syndrome |
| Werner sindrome di | Werner syndrome |
| Cockayne sindrome di | Cockayne syndrome |
| Sindrome tricorino-falangea | Trichorinophalangeal syndrome |
| Smith-Magenis sindrome di | Smith-Magenis syndrome |
| Townes-Brocks sindrome di | Townes-Brocks syndrome |
| Sindromi di Waardenburg | Waardenburg syndromes |
| Waandenburg tipo 1 sindrome di | Waandenburg type 1 syndrome |
| Waandenburg tipo 2 sindrome di | Waandenburg type 2 syndrome |
| Waandenburg tipo 3 sindrome di | Waandenburg type 3 syndrome |
| Wildervanck sindrome di | Wildervanck syndrome |
| Winchester sindrome di | Winchester syndrome |
| Wolfram sindrome di | Wolfram syndrome |
Articoli su iris.unipa.it inerenti le malattie rare del sistema circolatorio
Ascolta
| Crioglobulinemia mista | Mixed cryoglobulinemia |
| Behçet malattia di | Behcet's disease |
| Endocardite reumatica | Rheumatic endocarditis |
| Poliangioite microscopica | Microscopic polyangiitis |
| Poliarterite nodosa | Polyarteritis nodosa |
| Granulomatosi eosinofilica con poliangite | Eosinophilic granulomatosis with polyangiitis |
| Goodpasture sindrome di | Goodpasture syndrome |
| Granulomatosi con poliangite | Granulomatosis with polyangiitis |
| Arterite a cellule giganti | Giant cell arteritis |
| Microangiopatie trombotiche | Thrombotic microangiopathies |
| Porpora trombotica trombocitopenica | Thrombotic thrombocytopenic purpura |
| Takayasu malattia di | Takayasu's disease |
| Teleangectasia emorragica ereditaria | Hereditary hemorrhagic telangiectasia |
| Budd-Chiari sindrome di | Budd-Chiari syndrome |
| Porpora di Henoch-Schoenlein ricorrente | Recurrent Henoch-Schoenlein purpura |
| Linfedemi primari cronici | Chronic primary lymphoedema |
| Linfedema ereditario di tipo 1 | Type 1 hereditary lymphedema |
| Linfedema ereditario di tipo 2 | Type 2 hereditary lymphedema |
| Linfedema idiopatico | Idiopathic lymphedema |
| Linfedema primitivo autosomico recessivo | Primary autosomal recessive lymphoedema |
| Sindrome delle unghie gialle | Yellow nail syndrome |