EURORDIS Member Organisations - Diseases - ERN Groupings Working Document Diseases ERN Group - Primary ERN Group - secondary Achondroplasia Fibrodysplasia ossificans progressiva Fibrous dysplasia of bone Osteogenesis imperfecta GR Connective tissues Silver-Russell dwarfism Sterno Costo Clavicular Hyperostosis Acute monoblastic leukaemia Brain tumor Cancer, paediatric, rare Colon cancer, familial nonpolyposis Craniopharyngioma Desmoid disease Endocrine tumour Leukaemia lymphoma Multiple endocrine neoplasia Myeloma, multiple Pseudomyxoma peritonei Rare tumours Retinoblastoma Systemic mastocytosis Tumour, rare Von Hippel-Lindau disease Waldenström macroglobulinemia X-linked lymphoproliferative disease Brugada syndrome Cardiac disease, rare Cardiomyopathy, familial dilated Heart malformation, congenital Long QT syndrome, familial Ehlers-Danlos syndrome GR Connective tissue & musculoskeletal Marfan syndrome GR Connective tissue & musculoskeletal Scleroderma GR Connective tissues GR immunological & autoinflammat Sjögren syndrome GR Connective tissues GR immunological & autoinflammat Apert syndrome Crouzon disease Esophageal atresia Pfeiffer Acromegaly Addison's disease Adrenal hyperplasia Albright hereditary osteodystrophy
Alström syndrome Cushing disease Growth hormone deficiency, isolated, genetic form Hypoparathyroidism familial isolated Hypothyroidism, congenital Lipodystrophy, Acquired generalized Short stature due to growth hormone resistance Turner syndrome Aniridia Keratoconus Leber hereditary optic neuropathy Retinitis pigmentosa Usher syndrome Uveitis, adult WAGR syndrome Crohn disease GR Gastrointestinal Familial adenomatous polyposis GR Gastrointestinal Intestinal pseudoobstruction chronic idiopathic GR Gastrointestinal Pancreatitis GR Gastrointestinal Mayer-Rokitansky-Küster-Hauser syndrome GR Gynaecological & obstetric Alpha-thalassemia Angioedema, hereditary Aplastic anaemia Beta-thalassemia Dyserythropoietic anaemia, congenital Fanconi anaemia Haematological diseases Haemophilia Hemochromatosis Langerhans cell histiocytosis Myeloproliferative disease, adult, rare Paroxysmal nocturnal hemoglobinuria Shwachman-diamond syndrome Sickle cell anaemia Thrombocytopenic purpura, autoimmune Hepatic diseases GR Hepatic disorders Metabolic liver disease, paediatric, rare GR Hepatic disorders Primary sclerosing cholangitis GR Hepatic disorders Wilson disease GR Hepatic disorders Amyloidosis Familial hemophagocytic lymphohistiocytosis (FHL Immunodeficiency, primary Juvenile arthritis, idiopathic Lupus erythematosus Mediterranean fever, familial Muckle-Wells syndrome Relapsing polychondritis
SAPHO syndrome Angelman syndrome CHARGE association Chromosomal anomaly Chromosome X structural anomaly Ciliopathies Cornelia de Lange syndrome Costello syndrome Fetal valproic syndrome Fragile X syndrome Intellectual deficiency with developmental anoma Jacobsen syndrome Joubert syndrome Klinefelter syndrome Limb hypoplasia - limb reduction defect/thalidomi Lowe syndrome Marshall-Smith syndrome McCune-Albright syndrome Moebius syndrome Monosomy 22 Monosomy 22q11 Monosomy 5p Noonan syndrome Poland anomaly Prader-Willi syndrome Ring chromosome 20 Septooptic dysplasia Spina bifida Tetrasomy 12p Trisomy 18 Williams syndrome Acatalasemia Adrenoleukodystrophy Adrenomyeloneuropathy Alkaptonuria Alpers syndrome Alpha-mannosidosis Alpha-N-a Argininemia Aspartylglucosaminuria Barth syndrome Beta-ketothiolase deficiency Björnstad syndrome CDG syndrome Cerebrotendinous xanthomatosis Cystathioninuria De Barsy syndrome
Dehydratase deficiency Dihydropyrimidine dehydrogenase deficiency Dihydropyrimidinuria Erythropoietic protoporphyria GR Skin diseases Fabry disease Formiminoglutamic aciduria Free sialic acid storage disease Fumaric aciduria Galactosemia Galactosialidosis Gaucher disease Glycogen storage diseases GM1 gangliosidosis GTP cyclohydrolase I deficiency Hartnup disease Hawkinsinuria Hereditary coproporphyria Hereditary fructose intolerance Histidinemia Homocarnosinosis Homocystinuria Hurler syndrome Hurler-Scheie syndrome Hyaluronidase deficiency Hyperammonemia due to N-acetylglutamate synth Hyperdibasic aminoaciduria type 1 Hyperglycinemia, isolated nonketotic Hyperinsulinism-hyperammonemia syndrome Hyperlysinemia Hypertryptophanemia Hypophosphatasia Iminoglycinuria Isolated succinate-coq reductase deficiency Kearns-Sayre syndrome Krabbe disease Lathosterolosis Leigh syndrome Lesch-Nyhan syndrome Lysinuric protein intolerance Lysosomal acid lipase deficiency Lysosomal disease Malonic aciduria Maple syrup urine disease Medium chain acyl-coa dehydrogenase deficiency Menkes disease Metabolic disease, rare Methylmalonic acidemia with homocystinuria
Mitochondrial diseases Monoamine oxidase A deficiency Mucolipidosis Mucopolysaccharidosis Niemann-Pick Ornithine transcarbamylase deficiency Pearson syndrome Pentosuria Peroxisomal acyl-coa oxidase deficiency Phenylketonuria Propionic acidemia Protein R deficiency Pyruvate dehydrogenase deficiency Saccharopinuria Sandhoff disease Sandhoff disease Sanfilippo syndrome type C (Mucopolysaccharidos Sarcosinemia Scheie syndrome Sialidosis Sialuria Sitosterolemia Tay-Sachs disease Tay-Sachs disease Trimethylaminuria Triose phosphate-isomerase deficiency Tyrosinemia Vitamin B12-responsive methylmalonic acidemia X-linked adrenoleukodystrophy Zellweger syndrome Behcet disease GR Immunological & autoinflamma Cerebral cavernous malformations Familial aortic dissection Rendu-Osler-Weber disease Sturge-Weber syndrome Vascular disease, rare Vasculitis Ring chromosome 14 GR Neurological disease Aicardi syndrome Alternating hemiplegia Anoxic seizures Arachnoid cyst Arnold-Chiari malformation Aromatic L-aminoacid decarboxylase deficiency Ataxia, adult Cerebellar ataxia, autosomal dominant Ceroid lipofuscinosis, neuronal
Complex regional pain syndrome Dravet syndrome Dystonia Facioscapulohumeral muscular dystrophy Friedreich ataxia Gelineau disease Guillain-Barré syndrome Hereditary spastic paraplegia, autosomal dominan Huntington disease Juvenile neuronal ceroid lipofuscinosis (Batten dise Kleine-Levin syndrome Leukodystrophy Locked-in syndrome Multiple sclerosis Multiple system atrophy Myasthenia gravis Neuroacanthocytosis Neurodegeneration with brain iron accumulation ( Neurofibromatosis GR Skin diseases Ondine-Hirschsprung disease Opsoclonus-myoclonus syndrome PANDAS Perineural cyst Post-poliomyelitic syndrome Proximal spinal muscular atrophy Rett syndrome Spastic paraplegia, familial Stiff-man syndrome Syringomyelia Tourette syndrome Transmissible spongiform encephalopathies Tremor hereditary essential Tuberous sclerosis West syndrome Amyotrophic lateral sclerosis Charcot-Marie-Tooth disease Chronic inflammatory demyelinating polyneuropat Duchenne Muscular dystrophy Muscular dystrophy Muscular dystrophy, Duchenne and Becker types Myotubular myopathy Neuromuscular disease Alpha-1 antitrypsin deficiency Alpha-1-antichymotrypsin deficiencies Cystic fibrosis Gorham-Stout disease Lymphangioleiomyomatosis
Pulmonary arterial hypertension Pulmonary fibrosis, idiopathic Sarcoidosis Cystinosis Nephrotic syndrome Polycystic kidney disease Renal disease, genetic Cutis laxa Cutis marmorata telangiectatica congenita Ectodermal dysplasia syndrome EEC syndrome Epidermolysis bullosa Giant pigmented hairy nevus Ichthyosis Incontinentia pigmenti Oculocutaneous albinism Papulosis, malignant atrophic Partington disease Pemphigus vulgaris Pemphigus, benign chronic familial Porphyria Pseudoxanthoma elasticum Systemic scleroderma (systemic sclerosis) Xeroderma pigmentosum Anorectal malformation Bladder exstrophy and epispadias complex Interstitial cystitis GR Urogenital diseases GR Urogenital diseases GR Urogenital diseases