Retour

Office of Rare Diseases

Rare Diseases List

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

A achalasia Achard-Thiers syndrome achondrogenesis achondroplasia achondroplastic dwarfism achromatopsia acid maltase deficiency acne rosacea acoustic neuroma acquired agranulocytosis acquired autoimmune hemolytic anemia acquired syphilis acrocallosal syndrome, Schinzel type acrodermatitis acrodermatitis enteropathica acrodysostosis acromegaly ACTH deficiency Actinomycetales infection acute (altitude) mountain sickness acute idiopathic polyneuritis acute intermittent porphyria acute lymphocytic leukemia acute myelocytic leukemia acute myelogenous leukemia acute necrotizing ulcerative gingivitis acute posterior multifocal placoid                              pigment epitheliopathy acute renal failure Adams-Oliver syndrome Addison's disease adenocarcinoid adenocarcinoma adenoid cystic carcinoma adenomelablastoma adenosine deaminase deficiency Adie syndrome adiposa dolorosa (Dercum's disease) adrenal cancer adrenal disorder adrenal hypertension adrenal insufficiency adrenal medulla neoplasm adrenal neoplasm adrenogenital syndrome adrenoleukodystrophy adrenomyeloneuropathy adult respiratory distress syndrome afibrinogenemia agenesis of corpus callosum Ahumada-del Castillo syndrome Aicardi syndrome AIDS dysmorphic syndrome ALA-D porphyria Alagille syndrome albinism albinoidism Albright's hereditary osteodystrophy alcoholic hepatitis alcoholic liver cirrhosis Alexander's disease alkaptonuria allergic angiitis allergic autoimmune thyroiditis allergic bronchopulmonary mycosis allergic encephalomyelitis allergic pneumonitis alopecia alopecia areata Alpers disease alpha-1 antitrypsin deficiency Alport syndrome ALS (amyotrophic lateral sclerosis) Alstrom's Syndrome Alzheimer's disease ameloblastoma amelogenesis imperfecta amenorrhea aminoacidopathies aminoaciduria amniotic bands amyloidosis amyotonia congenita amyotrophic lateral sclerosis (ALS) anaphylaxis Andersen's disease Andre syndrome    (Oto-Palatal-digital syndrome, type II) androgen insensitivity syndrome (AIS)           (old name: testicular feminization) anemia anencephalus anencephaly aneurysm Angelman syndrome (Happy puppet) angioimmunoblastic with dysproteinemia                         lymphadenopathy angiotensin/renin/aldosterone hypertension aniridia ankylosing spondylitis anodontia anorchia anorchidism anosmia anti-phospholipid antibody syndrome antigen antibody reaction Antley-Bixler syndrome antley bixler syndrome aortic aneurysm aortic coarctation aortic valve stenosis APECED syndrome Apert syndrome aphthous stomatitis aplasia cutis congenita aplastic anemia APMPPE (epitheliopathy):      acute posterior multifocal placoid pigment apraxia arachnoiditis arginase deficiency argininemia argininosuccinate synthetase deficiency argininosuccinic aciduria arginosuccinate lyase deficiency Arnold-Chiari malformation Arnold-Chiari syndrome arteriovenous malformation arteritis arthritis arthrogryposis multiplex congenita asbestosis Asherman's syndrome aspartylglycosaminuria Asperger syndrome/disorder aspergillosis asphyxiating thoracic dystrophy asthenia astrocytoma asymmetric septal hypertrophy ataxia telangiectasia athetosis atrial septal defects ATR-X (X-linked alpha thalassemia                       mental retardation syndrome) audiogenic seizure autism autistic disorder autoimmune hemolytic anemia autoimmune lymphoproliferative syndrome autonomic dysfunction avascular necrosis axon reaction B B-cell Lymphomas babesiosis bacterial endocarditis bacterial food poisoning bacterial meningitis bacterial pneumonia balantidiasis Baller-Gerold syndrome Bannayan-Riley-Ruvalcaba syndrome (BRR) Bannayan-Zonana (BZS) Bantil's syndrome Barrett syndrome Barth syndrome bartonellosis Bartter's syndrome Batten disease Batten Turner muscular dystrophy Batten-Turner syndrome Beals syndrome    (congenital contractural arachnodactyly) Becker's muscular dystrophy Becker's nevus Beckwith-Wiedemann syndrome Behcet's syndrome Behçet's syndrome bejel Bell's palsy benign astrocytoma benign congenital hypotonia benign essential blepharospasm benign essential tremor syndrome benign familial hematuria benign familial pemphigus benign follicular hyperplasia with sinus histiocytosis benign mucosal pemphigoid benign paroxysmal positional nystagmus benign paroxysmal positional vertigo (BPPV) Bernard-Soulier syndrome berylliosis beta-galactosidase-1 deficiency beta-thalassemia major anemia bilateral acoustic neurofibromatosis bilateral renal agenesis biliary atresia biliary cirrhosis biliary tract cancer Binswanger's disease Blackfan-Diamond anemia bladder cancer bladder neoplasm blastoma blastoma multiforme blastomycosis blepharophimosis blepharospasm blindness blood blood platelet disorders blood vessel disorder Bloom syndrome blue diaper syndrome blue rubber bleb nevus bone developrnent disorder bone neoplasias bone neoplasm borreliosis botulism Bowen Hutterrite syndrome Bowen's disease Bowen-Conradi Hutterite syndrome Bowen-Conradi syndrome Bowenoid papulosis BPPV (benign paroxysmal positional vertigo) bradykinesia brain cancer brain tumor branchio-oculo-facial syndrome branchio-oto-renal syndrome breast neoplasm brittle bone disease broad beta disease bronchopulmonary dysplasia Brown syndrome Brown-Sequard syndrome BRR (Bannayan-Riley-Ruvalcaba syndrome) brucellosis bubonic plague Budd-Chiari syndrome Buerger's disease bulimia bulimia nervosa bullous pemphigoid Burkitt's lymphoma burning mouth syndrome byssinosis BZS (Bannayan-Zonana) C C-1 esterace deficiency (type 2 with ascites) C syndrome caarbonic anhydrase II deficiency calciphylaxis calcium pyrophosphate dehydrate calculi camptomelic syndrome Canavan leukodystrophy cancrum oris candidiasis carbamoyl phosphate synthetase deficiency carbamoyl phosphate synthetase                     deficiency (genetic form) carbamyl phosphate synthetase deficiency carbohydrate deficient glycoprotein syndrome carcinoid syndrome carcinoma of the vocal tract cardio-facio-cutaneous syndrome cardioauditory syndrome cardiospasm carnitine palmityltransferase deficiency carnosinemia Caroli syndrome/disease (polycystic liver disease) Carpenter syndrome cartilagenous neoplasias cartilagenous neoplasms Castleman's disease catecholamine hypertension caudal regression syndrome causalgia cavernous hemangioma cavernous lymphangioma CBPS or perisylvian syndrome                  (congenital, bilateral) celiac disease celiac sprue central core disease ceramide trihexosidosis cerebellar ataxia cerebellar degeneration cerebellar parenchymal degeneration cerebellar parenchymal disease   OR cortical degeneration of the cerebellum parenchymatous cerebral aneurysm cerebral palsy cerebral ventricle neoplasm cerebro-costo-mandibular syndrome cerebro-oculo-facio-skeletal syndrome cerebrohepatorenal syndrome cerebrotendinous xanthomatosis (CTX) Chagas disease chalazion Chanarin Dorfman syndrome ichthyosis Chandler's syndrome Charcot-Marie-tooth disease Chediak-Higashi syndrome cherubism Chiari-Frommel syndrome chikungunya CHILD syndrome ichthyosis childhood disintegrative disorder cholangiocarcinoma cholera cholestasis cholesterol ester storage disease cholesterol esterification disorder chondroblastoma chondrocalcinosis chondrodysplasia punctata             with steroid sulfatase deficiency chondrodystrophy chondrosarcoma chorea chorea minor choriocarcinoma chorioretinitis choroideremia choroiditis Christmas disease chromosomal triplication chromosome 11-14 translocation chromosome 11q syndrome chromosome 13 ring chromosome 13q syndrome chromosome 13q-mosaicism chromosome 14 ring chromosome 14, trisomy mosaic chromosome 15 ring chromosome 17, interstitial deletion 17p chromosome 18 long arm deletion syndrome chromosome 18 ring chromosome 18, monosomy 18q chromosome 18p-syndrome chromosome 18q- syndrome chromosome 18q-syndrome chromosome 21 ring chromosome 22 ring chromosome 22, trisomy mosaic chromosome 3 chromosome 3, deletion of distal chromosome 3, monosome chromosome 4 ring chromosome 4 short arm deletion chromosome 4, trisomy 4p chromosome 4q-syndrome chromosome 5 trisomy 5p chromosome 5p-syndrome chromosome 6 ring chromosome 9 ring chromosome disorder chromosome triploidy syndrome chronic erosive gastritis chronic granulomatous disease chronic hiccups chronic inflammatory demyelinating polyneuropathy chronic lymphocytic leukemia chronic myelogenous leukemia chronic nectrotizing vasculitis chronic neutropenia chronic recurrent multifocal osteomyelitis chronic renal failure chronic spasmodic dysphonia Churg-Strauss syndrome ciguatera fish poisoning citrullinemia cleft lip cleft palate cleidocranial dysplasia clubfoot cluster headache Coats disease Cockayne's syndrome Coffin-Lowry syndrome Coffin-Siris syndrome Cohen syndrome colangite esclerosante por paracoccidiodomicose cold antibody hemolytic anemia cold urticaria colitis collagen disorder collagenous colitis colon neoplasm Colorado tick fever colorectal neoplasm common variable immunodeficiency compartment syndrome conductive hearing loss condyloma condyloma acuminatum cone dystrophy congenital adrenal hyperplasia congenital afibrinogenemia congenital antithrombin III deficiency congenital aplastic anemia congenital arteriovenous shunt congenital brain disorder congenital cardiovascular disorder congenital cardiovascular malformations congenital cardiovascular shunt congenital central hypoventilation syndrome congenital contractural arachnodactyly          (beals syndrome) congenital cytomegalovirus congenital deafness congenital erythropoietic porphyria congenital fiber type disproportion congenital gastrointestinal disorder congenital generalized fibromatosis congenital heart block congenital heart disorder congenital heart septum defect congenital hemolytic anemia congenital hepatic porphyria congenital hypomyelination neuropathy congenital ichthyosis congenital kidney disorder congenital lobar emphysema congenital megacolon congenital nonhemolytic jaundice congenital rubella congenital skeletal disorder congenital skin disorder congenital spherocytic anemia congenital spherocytic hemolytic anemia congenital sucrose isomaltose malabsorption congenital syphilis congenital toxoplasmosis conjunctivitis conjunctivitis ligneous Conn's syndrome Conradi-Hünermann syndrome constitutional growth delay conversion disorder Cooley's anemia cor biloculare cor triatriatum corneal dystrophy corneal endothelium dystrophy corneal V2 carcinoma Cornelia de Lange syndrome coronal dentin dysplasia coronary artery coronary artery aneurysm cortical degeneration of the      cerebellum parenchymatous      OR cerebellar parenchymal disease cowpox craniofacial dysostosis craniometaphyseal dysplasia craniosynostosis craniostenosis CREST (calcinosis, Raynaud's phenomena,             esophageal dysfunction, sclerodactyly,             telangiectasia) cretinism Creutzfeldt-Jacob disease cri du chat syndrome Crohn's disease Cronkhite-Canada disease Crouzon disease cryoglobulinemia cryptococcosis cryptosporidiosis crystal deposit disease CTX (cerebrotendinous xanthomatosis) Curth-Macklin type ichthyosis hystrix Cushing's syndrome/disease cutaneous lupus erythematosus cutis laxa cyclic neutropenia cyclic vomiting syndrome cyroglobulinemia cystathionine beta synthatase deficiency cystic fibrosis cystic hygroma cysticercosis cystinosis cystinuria cytomeglovirus D Dandy-Walker syndrome Darier's disease de toni-Fanconi syndrome deafness degenerative follicle syndrome degenerative motor system disease degos disease/syndrome Dejerine-Sottas disease dementia dengue fever depersonalization disorder Dercum disease dermatomyositis desmoid destinogenesis imperfecta, type III Devic disease dextrocardia with situs inversus diabetes insipidus diabetic angiopathy diabetic nephropathy diabetic neuropathy diastrophic dysplasia diencephalic syndrome diffuse idiopathic skeletal hyperostosis       (DISH syndrome) DiGeorge syndrome discoid lupus erythematosus DISH syndrome       (diffuse idiopathic skeletal hyperostosis) dissociative hysteria Downs syndrome doxorubicin doxorubicin-induced cardiomyopathy drancunculiasis Drash syndrome Duane syndrome Dubin-Johnson syndrome Dubowitz syndrome Duchenne muscular dystrophy Duhring's disease Dupuytren's contracture dust-induced lung disease dwarfism Dyggve-Melchior-Clausen syndrome dysbarism dyschondrosteosis dyskeratosis congenita dyskeratosis follicularis dyskinesia dysostosis dysplasia, oral epithelial dysplastic nevus syndrome dystonia dystonia musculorum deformans dystrophic epidermolysis bullosa E Eales disease early infantile autism Eaton-Lambert syndrome eccentrochondrodysplasia eclampsia ectodermal dysplasia ectopic pregnancy ectrodactyly ectrodactyly-ectodermal dysplasia-cleft                        lip/cleft palate Edwards syndrome Ehlers-Danlos syndrome Eisenmenger syndrome elective mutism (selective mutism) elephantiasis Ellis-van Creveld syndrome Emery-Dreifuss muscular dystrophy emphysema empty sella syndrome encephalitis lethargica encephalocele encephalomyelitis endocardial fibroelastosis endocarditis endocrinopathy endomyocardial fibrosis Englemann disease enterobiasis enteropathica environment associated hypertension eosinophilia-myalgia syndrome eosinophilic cystitis eosinophilic fasciitis eosinophilic gastroenteritis eosinophilic granuloma ependymoma epidemic encephalitis epidemic encephalomyelitis epidermal nevus syndrome epidermodysplasia verruciformis epidermoid carcinoma epidermolysis bullosa epidermolytic hyperkeratosis epiphysealis hemimelica dysplasia epitheliopathy (APMPPE):    acute posterior multifocal placoid pigment EPP (erythropietic protoporphyria) Erb's palsy Erb-Duchenne palsy Erdheim-Chester syndrome erysipelas erythema multiforme erythrokeratodermia progressive                symmetrica ichthyosis erythrokeratodermia symmetrica progressiva erythrokeratolysis hiemalis ichthyosis erythrokeratolysis variabilis ichthyosis erythromelalgia erythropietic protoporphyria (EPP) erythroplakia esophageal atresia esophageal disorder esophageal neoplasm esophageal varices essential hypertension essential mixed cryoglobulinemia essential thrombocytopenia essential thrombocytosis Evan's syndrome Ewing's sarcoma Ewing's tumor exfoliative dermatitis exophthalmic goiter exostoses experimental allergic encephalomyelitis exstrophy of the bladder extrinsic allergic alveolitis F Fabry's disease facial paralysis factor IX deficiency factor XIII deficiency Fahr's disease Fairbank disease familial chondrocalcinosis familial deafness familial dysautonomia familial emphysema familial hyperchylomicronemia familial hyperlipoproteinemia familial hyperlipoproteinemia type I familial hyperlipoproteinemia type III familial hyperlipoproteinemia type IV familial hypertension familial hypothyroidism familial Mediterranean fever familial periodic paralysis familial polyposis familial Treacher Collins syndrome Fanconi's anemia Farber's disease farmer's lung fascioliasis fatal familial insomnia febrile seizure Felty syndrome fetal alcohol syndrome fetal hydantoin syndrome FG syndrome fibromatosis fibromyalgia fibrosing alveolitis fibrosis fibrous dysplasia fibrousdysplasia ossificans progressiva (FOP) Filariasis filariasis fish odor syndrome (trimethylaminuria                               or fish malodor syndrome) fish malodor syndrome (trimethylaminuria                                   or fish odor syndrome) fish poison fish-eye disease fissured tongue Fitz-Hugh-Curtis syndrome floating-harbor syndrome focal dermal hypoplasia focal dystonia FOP (fibrousdysplasia ossificans progressiva) Forestier's disease formaldehyde poisoning Fox-Fordyce disease Frölich's syndrome fragile X syndrome Fraser syndrome Freeman-Sheldon syndrome Frey's syndrome Friedreich's ataxia Froelich's syndrome fronto-facio-nasal dysplasia fructosuria Fryns syndrome fucosidosis Fukuyama type muscular dystrophy G galactosemia ganglioside sialidase deficiency gangliosidosis (Type1)(GM1) gangliosidosis (Type2)(GM2) Gardner's syndrome gastric lymphoma gastrointestinal autonomic              nerve tumor (plexosarcoma) gastrointestinal neoplasm gastroschisis Gaucher's disease generalized seizure generalized torsion dystonia genetic disorder genital herpes geographic tongue Gerstmann syndrome gestational diabetes mellitus Gianotti-Crosti syndrome giant axonal neuropathy giant cell arteritis giant cell myoocarditis giant congenital nevi giant hypertrophic gastritis giardiasis gigantism Gilbert's syndrome Gilles de la Tourette's syndrome gingival fibrosis gingivitis glioblastoma multiforme glioma gliomatosis cerebri glomerulonephritis glomerulosclerosis glossodynia glucose 6 phosphate dehydrogenase              (G6PD) deficiency glucose-galactose malabsorption glutaricaciduria I glutaricaciduria II glycerol kinase deficiency glycogen storage disease type I glycogen storage disease type II glycogen storage disease type III (GSD III) glycogen storage disease type V (GSD V) glycogen storage disease type VI (GSD VI) glycogen storage disease type VII (GSD VII) glycogen storage disease type VIII (GSD VIII) glycogenosis type II glycogenosis type III glycogenosis type IV glycogenosis type V glycogenosis type VI glycogenosis type VII glycogenosis type VIII glycosuria Goldenhar disease Goodpasture's syndrome Gorham syndrome Gottron's syndrome graft versus host disease granulocytopenia granuloma annulare granulomatous hypophysitis Graves' disease Greig cephalopolysyndactyly syndrome Grover's disease growth hormone deficiency GSD I (Von Gierke disease) Guillain-Barre syndrome gyrate atrophy gyrate atrophy of the retina H Hageman factor deficiency Hailey-Hailey disease hairy cell leukemia hairy tongue Hajdu-Cheney syndrome Hallermann-Streiff syndrome Hallervorden-Spatz disease hand-foot-mouth disease (coxsackie virus) Hand-Schuller-Christian disease Harlequin type ichthyosis Hartnup disease Hashimoto's syndrome Hay-Wells syndrome hearing disorder hearing impairment hearing loss heart aneurysm heart block heavy metal poisoning helminths hemangioendothelioma hemangioma hemifacial microsomia hemihypertrophy hemiplegia hemoglobinopathy hemoglobinuria hemolytic anemia hemolytic-uremic syndrome hemophagocytic lymphohistiocytosis hemophilia hemophilic arthropathy hemorrhagic fever hemorrhagic thrombocythemia   (usually known as Essential thrombocythemia) hemosiderosis hepadnovirus D hepatic fibrosis hepatitis hepatitis A hepatitis B hepatitis C hepatitis D hepatitis non-A hepatitis non-A non-B Hepatitis non-B hepatocellular carcinoma hepatolenticular degeneration hepatorenal syndrome hereditary ceroid-lipofuscinosis hereditary hemochromatosis hereditary amyloidosis hereditary angioedema hereditary angioneurotic edema hereditary ataxia hereditary carnitine deficiency hereditary carnitine deficiency myopathy hereditary carnitine deficiency syndrome hereditary coproporphyria hereditary deafness hereditary elliptocytosis hereditary fructose intolerance hereditary hearing disorder hereditary hearing loss hereditary hemochromatosis hereditary hemorrhagic telangiectasia hereditary hyperuricemia hereditary lymphedema hereditary motor and sensory neuropathy hereditary non-spherocytic hemolytic anemia hereditary peripheral nervous disorder hereditary sensory neuropathy type I hereditary sensory neuropathy type II hereditary spastic paraplegia hereditary spherocytic hemolytic anemia hereditary spherocytosis hereditary type 1 neuropathy hereditary type 2 neuropathy hereditary tyrosinemia Hermansky-Pudlak syndrome hermaphroditism herpes simplex disease herpes simplex encephalitis herpes viridae disease herpesvirus Simiae (B virus) herpetic encephalitis Hers disease (GSD III) hidradenitis suppurativa Hirschsprung's disease histidinemia histiocytosis X Hodgkin's disease holoprosencephaly Holt-Oram syndrome homocystinuria homologous wasting disease homozygous hypobetalipoproteinemia Horner's syndrome human hepatitis delta virus Hunter syndrome Huntington's chorea Huntington's disease Hurler syndrome Hutchinson-Gilford syndrome hydatidiform mole hydranencephaly hydrocephalus hyper-reactive airway disease hyper-reninism hyperadrenalism hyperaldosteronism hyperandrogenism hyperbilirubinemia hypercalcemia hypercalciuria hypercementosis hypercholesterolemia hypercholesterolemia, familial hyperchylomicronemia hyperexplexia hyperglycinemia hyperhidrosis hyperlipoproteinemia hyperlipoproteinemia, type I hyperlipoproteinemia, type II hyperlipoproteinemia, type III hyperlipoproteinemia, type V hyperostosis frontalis interna hyperoxaluria hyperparathyroidism hyperprolactinemia hyperprolinemia type I hyperprolinemia type II hyperreflexia hypersensitivity pneumonitis hypertension hypertensive retinopathy hyperthermia hypertrophic cardiomyopathy hypertrophic myocardiopathy hyperuricemia, choreoathetosis,                         self-mutilating syndrome hyperuricemia-oligophrenia hypoadrenalism hypocalcemia hypochondroplasia hypoglycemia hypogonadism hypokalemia hypoketonemic hypoglycemia hypomelanotic disorder hypoparathyroidism hypophosphatasia hypophosphatemic rickets hypopituitary dwarfism hypoplastic left heart syndrome hyporeninemic hypoaldosteronism hypothermia hypothyroidism hypoxia hypoxia neonatorum I I cell disease I-cell disease, mucolipidosis II ichthyosis ichthyosis congenita ichthyosis vulgaris ideopathic pulmonary hemosiderosis idiopathic alveolar hypoventilation syndrome          (primary alveolar hypoventilation syndrome) idiopathic dilation cardiomyopathy idiopathic dilation of the pulmonary artery idiopathic edema idiopathic orthostatic hypotension idiopathic pulmonary fibrosis idiopathic thrombocytopenic purpura IgA deficiency IgA nephropathy immune thrombocytopenia imperforate anus inborn amino acid metabolism disorder inborn branched chain aminoaciduria inborn error of metabolism inborn metabolic disorder inborn renal aminoaciduria inborn urea cycle disorder inclusion body myositis inclusion conjunctivitis incontinentia pigmenti infantile apnea infantile dysphagia infectious arthritis infectious myocarditis infective endocarditis intercellular cholesterol esterification disease interstitial cystitis interstitial pneumonia intestinal pseudo-obstruction iridocyclitis iritis Isaacs syndrome isovaleric acidemia Ivemark syndrome J Jackson-Weiss syndrome Japanese encephalitis Jarcho-Levin syndrome jejunal atresia Job syndrome Joseph disease Joubert syndrome jumping Frenchmen of Maine juvenile arthritis juvenile gout, choreoathetosis,          mental retardation syndrome juvenile hyaline fibromatosis juvenile myoclonic epilepsy juvenile rheumatoid arthritis

K Kabuki make up syndrome kallikrein hypertension Kallmann syndrome Kallman's syndrome Kaposi sarcoma Kartagener syndrome Kawasaki syndrome Kearns-Sayre syndrome Kennedy('s) Disease       (X-linked bulbospinal muscular atrophy) keratitis ichthyosis deafness syndrome keratoacanthoma keratoconjunctivitis keratoconjunctivitis sicca keratoconus keratomalacia keratosis keratosis follicularis keratosis follicularis (ichthyosis) keratosis follicularis spinulosa decalvans (ichthyosis) kernicterus ketotic hyperglycinemia kidney and other urinary tract cancers Kienboeck disease Kikuchi disease Kinsborne syndrome Klinefelter's syndrome Klippel-Feil syndrome Klippel-Trenaunay syndrome Kluver-Bucy syndrome Kniest dysplasia Kohler disease Korsakoff's syndrome Krabbe leukodystrophy/disease Kufs disease Kugelberg-Welander syndrome L L-transposition and ccTGA (for great arteries) lacrimo-auriculo-dento-digital syndrome (LADD) lactic acidosis Lafora Body disorder Lambert-Eaton paraneoplastic cerebellar degeneration Lambert-Eaton syndrome lamellar recessive ichthyosis Landau-Kleffner syndrome Landouzy-Dejerine muscular dystrophy Langer-Giedion syndrome Laron-type dwarfism Larsen syndrome larygeal cancer laryneal neoplasm laryngeal carcinoma laryngeal papillomatosis Laurence-Moon-Bardet-Biedl syndrome LCHAD long-chain 3-hydroxyacyl-CoA                  dehydrogenase deficiency (G1528C mutation) LCHAD (longchain 3hydroxyacyl                   CoA dehydrogenase deficiency) Leber congenital amaurosis Leber optic atrophy lecithin cholesterol acyltransferase deficiency Ledderhose disease Legg-Calvé-Perthes syndrome leiomyoma legionellosis legionnaire's disease Leigh disease Leiner disease leiomyosarcoma leishmaniasis Lemierre's syndrome (necrobacillosis) Lennox-Gastaut syndrome LEOPARD syndrome leprechaunism leprosy leptospirosis Lesch-Nyhan syndrome Letterer-Siwe disease leukemia leukocyte adhesion deficiency leukodystrophy leukoplakia leukoplakia, hairy levator syndrome Li-Fraumeni syndrome lichen planus lichen sclerosus limb-girdle muscular dystrophy lipid storage myopathy lipochondrodysplasia lipodystrophy lipogranulomatosis lipomucopolysaccharidosis lipoprotein disorder liposarcoma lissencephaly listeria infection listeriosis liver cirrhosis liver neoplasms locked-in syndrome loin pain hematuria syndrome (LPHS) Loken-Senior syndrome long QT Syndrome longchain 3hydroxyacyl      CoA dehydrogenase deficiency (LCHAD) Lou Gehrig's disease Lowe syndrome (oculocerebrorenal dystrophy) LSA (lichen sclerosis et atrophacus) Lucke renal adenocarcinoma lung cancer lung neoplasm lupus Lyell's syndrome lyme disease lymph node neoplasm lymphangiomyomatosis lymphatic neoplasm lymphedema lymphocytes; reduced or absent, T and B lymphocytic colitis lymphocytic infiltrate of Jessner lymphocytic vasculitis lymphoma lymphomatoid granulomatosis lymphomatoid papulosis (LyP) lymphomatous thyroiditis lymphosarcoma Lynch syndrome LyP (lymphomatoid papulosis) lysis of myofibrils (myofibrillar lysis) lysosomal disorders M macrocephaly cutis marmorata telangiectatica macular corneal dystrophy macular degeneration MAD (myoadenylate deaminase deficiency) mad cow disease Madelung's disease Maffucci syndrome mal de debarquement (MDD) malaria malignant astrocytoma malignant hyperthermia Mallory-Weiss syndrome mannosidosis maple syrup urine disease Marchiafava Bignami disease Marcus Gunn phenomenon Marden-Walker syndrome Marek disease Marfan syndrome Marfan Syndrome type I Marfan Syndrome type II Marfan Syndrome type III Marfan Syndrome type IV Marfan Syndrome type V Marie type ataxia Marineaco-Sjogren syndrome Maroteaux-Lamy syndrome Marshall syndrome Marshall-Smith syndrome MASA syndrome mastocytosis maternal phenylketonuria maxillofacial dysostosis maxillonasal dysplasia, Binder type May-Hegglin anomaly McArdle disease McCune-Albright syndrome McKusick type metaphyseal chondrodysplasia MDD (mal de debarquement) measles Meckel syndrome Mediterranean fever medium-chain AcyL CoA dehydrogenase deficiency medullary cystic disease medullary sponge kidney medullary thyroid carcinoma medulloblastoma megaloblastic anemia Meige syndrome MELAS (mitochondrial encephalopathy               , lactic acidosis, and stroke-like episodes) Melkersson-Rosenthal syndrome Melnick-Needles syndrome membranous nephropathy MEN (multiple endocrine neoplasia) Meniere's disease meningioma meningitis meningococcal meningococcemia meningomyelocele Menkes kinky hair syndrome mercury poisoning mercury toxicity MERRF syndrome (myoclonus epilepsy                   associated with ragged-red fibers) metabolic disorder metachromatic leukodystrophy metaphyseal chondrodysplasia, Schmid type metatrophic dysplasia methylmalonic acidemia/aciduria MHE (multiple hereditary exostoses ) microencephaly microvillus inclusion disease midline lethal granuloma Mikulicz syndrome Miller syndrome mitochondrial (phosphoenolpyruvate      carboxykinase deficiency) PEPCK deficiency mitochondrial encephalopathy,       lactic acidosis and stroke syndrome (MELAS) mitochondrial encephalopathy,     lactic acidosis, and stroke-like episodes (MELAS) mitochondrial genetic disorders mitral valve prolapse mixed connective tissue disease (MCTD) Moebius syndrome mononeuritis multiplex monosomy 3p2 Morquio syndrome motor neuro-opthalmic disorders motor neuron disease motor neuropathy Moyamoya disease MPS (mucopolysaccharidosis) MPS 1-H (mucopolysaccharidosis type I               Hurler syndrome) MPS 1-H/S (mucopolysaccharidosis type I              Hurler/Scheie syndrome) MPS 1-S (mucopolysaccharidosis type I              Scheie syndrome) MPS II (mild) (mucopolysaccharidosis type II              Hunter syndrome) MPS II (severe) (mucopolysaccharidosis type II               Hunter syndrome) MPS III-A (mucopolysaccharidosis type III-A               Sanfilippo syndrome) MPS III-B (mucopolysaccharidosis type III-B) MPS III-C (mucopolysaccharidosis type III-C) MPS III-D (mucopolysaccharidosis type III-D) MPS IV-A (mucopolysaccharidosis type IV-A            Morquio syndrome) MPS IV-B (mucopolysaccharidosis type IV-B) MPS VI (mucopolysaccharidosis type VI            Maroteaus-Lamy - severe, intermediate, mild) MPS VII (mucopolysaccharidosis type VII Sly syndrome) Mucha-Habermann disease mucocutaneous lymph node syndrome mucopolysaccharidosis (MPS) mucopolysaccharidosis type I Hurler syndrome (MPS 1-H) mucopolysaccharidosis type I Hurler/           Scheie syndrome (MPS 1H/S) mucopolysaccharidosis type I           Scheie syndrome (MPS 1-S) mucopolysaccharidosis type II            Hunter syndrome (MPS II) (mild) mucopolysaccharidosis type II            Hunter syndrome (MPS II) (severe) mucopolysaccharidosis type III-A            Sanfilippo syndrome (MPS III-A) mucopolysaccharidosis type III-B (MPS III-B) mucopolysaccharidosis type III-C (MPS III-C) mucopolysaccharidosis type III-D (MPS III-D) mucopolysaccharidosis type IV-A            Morquio syndrome (MPS IV-A) mucopolysaccharidosis type IV-B (MPS IV-B) mucopolysaccharidosis type V (no longer used            , formerly Scheie syndrome) mucopolysaccharidosis type VI          Maroteaus-Lamy - severe,           intermediate, mild (MPS VI) mucopolysaccharidosis type VII            Sly syndrome (MPS VII) Muenke Syndrome Muir-Torre syndrome Mullerian agenesis Mullerian aplasia Mullerian duct failure multi-infarct dementia multiple carboxylase deficiency multiple chemical sensitivity multiple endocrine neoplasia (MEN) multiple hereditary exostoses (MHE) multiple myeloma multiple organ failure multiple pterygium syndrome multiple sclerosis multiple sulfatase deficiency mumps muscular dystrophy myalgic encephalomyelitis myasthenia gravis mycoplasmal pneumonia mycosis fungoides mycosis fungoides lymphoma myelinopathies myelitis myelodysplasia myelofibrosis myelofibrosis-osteosclerosis myoadenylate deaminase deficiency (MAD) myocarditis myocardium disorder myoclonic progressive familial epilepsy myoclonus myoclonus epilepsy myoclonus epilepsy partial seizure myoclonus with epilepsy with ragged          red fibers (mitochondria) (MERRF syndrome) myofibrillar lysis (lysis of myofibrils) myopathy myositis myositis ossificans myositis ossificans progressiva myotonia atrophica myotonia congenita myotonic dystrophy myxedema N N-acetyl glutamate synthetase deficiency Nager syndrome nail-patella syndrome Nance-Horan syndrome narcolepsy nasopharyngeal carcinoma nasopharyngeal neoplasm NBCC (nevoid basal cell carcinoma syndrome) necrobacillosis (Lemierre's syndrome) Neisseria meningitidis Nelson syndrome nemaline myopathy neonatal hepatitis neonatal herpes neonatal transient jaundice nephroblastoma nephrocalcinosis nephrogenic diabetes insipidus nephrosclerosis nerve sheath neoplasm Netherton syndrome ichthyosis neuraminidase deficiency neuritic plaque neuroblastoma neurocutaneous melanosis neuroendocrine carcinoma of the cervix neurofibrillary tangles neurofibroma neurofibromatosis type 1 (NF 1) neurofibromatosis type 2 (NF 2) neurogenic hypertension neurogenic hypotension neuroleptic malignant syndrome neuronal ceroid lipofuscinosis nevoid basal cell carcinoma syndrome (NBCC) Nezelof's syndrome NF 1 (neurofibromatosis type 1) NF 2 (neurofibromatosis type 2) Niemann-Pick disease Niemann-Pick, Type A Niemann-Pick, Type B Niemann-Pick, Type C Niemann-Pick, Type D nocardiosis noise induced deafness noise trauma non-alcoholic steatohepatitis non-Hodgkin lymphoma non-lissencephalic cortical dysplasia non-small cell cancer nonallergic dermatitis nonketotic hyperglycinemia nonsyndromic hereditary hearing impairment Noonan syndrome Norrie disease notalgia paresthetica Nyhan syndrome O obesity, hereditary hyperglycemic obsessive-compulsive disorder (OCD) obstructive asymmetric septal hypertrophy OCD (obsessive-compulsive disorder) ochronosis ocular albinism ocular herpes ocular herpes encephalitis ocular melanoma ocular toxoplasmosis oculodentodigital syndrome oculo-dento-digital syndrome oculo-gastrointestinal muscular dystrophy oculocerebrorenal syndrome oculocerebrorenal syndrome of Lowe oculocutaneous albinism odontoma OI (osteogenesis imperfecta) olivopontocerebellar atrophy Ollier disease onchocerciasis Opitz syndrome optic nerve disorder optic neuritis oral leukoplakia oral lichen planus oral lichenoid lesions oral squamous cell carcinoma oral submucous fibrosis oral-facial-digital syndrome oral-pharyngeal disorders organic brain syndrome organic personality syndrome ornithine carbamoyl phosphate deficiency ornithine carbamoyl transferase deficiency ornithinemia orotic aciduria orthostatic tachycardia syndrome Osgood-Schlatter disease Osler-Weber-Rendu syndrome osteitis deformans osteoarthritis osteochondritis osteochondritis deformans osteochondritis deformans juvenile osteogenesis imperfecta osteogenesis imperfecta (OI) osteogenic sarcoma osteomalacia osteomyelitis osteonecrosis osteopetrosis osteoporosis osteosarcoma osteosclerosis Oto-Palatal-digital syndrome, type I        (Taybi syndrome) Oto-Palatal-digital syndrome, type II        (Andre syndrome) otosclerosis ovarian cancer oxalosis P pachydermoperiostosis pachygyria Paget's disease of the bone Paget's disease of the breast Pallister-Hall syndrome Pallister-Killian syndrome Pallister-Mosaic syndrome pancreatic cancer pancreatic islet cell neoplasm pancreatic islet cell tumors panic disorder panic-anxiety syndrome papilledema Papillion-Lefevre syndrome papillitis papular urticaria paracoccidioidomycosis paramyotonia congenita paraneoplastic cerebellar degeneration paraplegia parapsoriasis parathyroid cancer parathyroid neoplasm parenchymatous cortical degeneration of cerebellum Parkinson's disease Parkinsonism paroxysmal cold hemoglobinuria paroxysmal nocturnal hemoglobinuria Parry-Romberg syndrome pars planitis Parsonnage-Turner syndrome Patau syndrome patent ductus arteriosus pediatric osteoporosis pediatric T-cell leukemia peeling skin syndrome ichthyosis Pelizaeus-Merzbacher brain sclerosis Pelizaeus-Merzbacher leukodystrophy pelvic lipomatosis pemphigus pemphigus and fogo selvagem pemphigus foliaceus pemphigus vulgaris penta X syndrome pentalogy of Cantrell periarteritis nodosa perilymphatic fistula periodontitis peripheral blood vessel disorder peripheral nervous disorder peripheral neuropathy perisylvian syndrome (congenital, bilateral) or CBPS pernicious anemia perniosis persistent parvovirus infection persistent truncus arteriosus pertussis Peutz-Jeghers syndrome Peyronie disease Pfeiffer syndrome PHA (pseudohypoaldosteronism) phenylalaninemia phenylketonuria pheochromocytoma phocomelia syndrome phosphate diabetes phosphoglycerate kinase deficiency physical urticaria pica Pierre-Robin syndrome Pinta pityriasis lichenoides chronica Pityriasis Rubra Pilaris (PRP) pituitary dwarfism placenta disorder placenta neoplasm platelet disorder plexosarcoma           (gastrointestinal autonomic nerve tumor) pneumoconiosis pneumocystic carinii pneumonia POEMS syndrome (polyneuropathy,       organomegaly, endocrinopathy, protein,       skin change syndrome) Poland syndrome poliomyelitis polyarteritis polyarteritis nodosa polyarthritis polychondritis polycystic kidney polycystic kidney disease polycystic liver disease (Caroli disease) polycystic ovarian syndrome polycythemia vera polymorphic macular degeneration polymorphous light disease polymyalgia rheumatica polymyositis polyneuritis polyostotic fibrous dysplasia Pompe disease porphyria porphyria cutanea tarda post-infectious myocarditis post-polio syndrome post-traumatic epilepsy posterior uveitis postural hypotension potassium deficiency Potter syndrome Poxviridae disease Prader-Willi syndrome precocious puberty preeclampsia pregnancy toxemia /hypertension premature aging presbyacusis presbycusis primary agammaglobulinemia primary aldosteronism primary alveolar hypoventilation syndrome  (idiopathic alveolar hypoventilation syndrome) primary amenorrhea primary biliary cirrhosis primary craniosynostosis primary hyperoxaluria primary lateral sclerosis primary pulmonary hypertension primary sclerosing cholangitis Prinzmetal's variant angina proctitis progeria progressive multifocal leukoencephalopathy progressive myositis ossificans progressive spinal muscular atrophy progressive supranuclear palsy progressive systemic sclerosis propionic acidemia propoikilocytosis Proteus syndrome protoporphyria protozoal meningoencephalitis PRP (Pityriasis Rubra Pilaris) prune belly syndrome pseudo-Hurler polydystrophy pseudocholinesterase deficiency pseudochondrodysplasia pseudogout pseudohermaphroditism pseudohypoaldosteronism (PHA) pseudohypoparathyroidism pseudomyxoma peritonei pseudotumor cerebri pseudoxanthoma elasticum psittacosis psoriasis psoriatic arthritis pulmonary alveolar proteinosis pulmonary fibrosis /granuloma pulmonary hypertension pure red cell aplasia purines-pyrimidines, gout purines-pyrimidines, hyperuricemia purines-pyrimidines, orotic aciduria purpura pyoderma gangrenosum pyrosis pyruvate carboxylase deficiency pyruvate dehydrogenase deficiency pyruvate kinase deficiency Q fever R rabies radiation induced angiosarcoma of the breast radiation leukemia radiation related neoplasm /cancer radiation syndromes radiation-induced cancer radicular dentin dysplasia Ramon Syndrome Rapp-Hodgkins syndrome Rasmussen encephalitis Raynaud's disease/phenomenon reactive airway disease reactive attachment disorder of early childhood reactive attachment disorder of infancy Recklinghausen's neurofibromatosis rectal neoplasm rectosigmoid neoplasm rectum neoplasm recurrent laryngeal papillomas reflex sympathetic dystrophy syndrome reflux esophagitis Refsum syndrome regional enteritis Reifenstein syndrome Reiter syndrome renal calculi renal cancer renal cell carcinoma renal failure renal glycosuria renal hypertension renal osteodystrophy renal rickets renal tubular acidosis renal tubular transport disorders inborn Rendu-Osler-Weber syndrome renoprival hypertension respiratory acidosis restless legs syndrome restrictive lung disease with right hemidiaphragm              paralysis and pulmonary emphysema reticuloendotheliosis retina disorder retinal degeneration retinitis pigmentosa (RP) retinoblastoma retinopathy of prematurity retinoschisis retractile mesenteritis retrolental fibroplasia retroperitoneal fibrosis Rett syndrome Reye syndrome Rh disease rheumatic fever rheumatism rheumatoid arthritis rheumatoid vasculitis rickettsial disease Rieger syndrome Riley-Day syndrome Riley-Smith (BRR) Roberts syndrome Robinow syndrome Rocky Mountain spotted fever Romano-Ward syndrome Romberg hemi-facial atrophy Rosai-Dorfman disease roseola infantum Rothmund-Thomson syndrome Roussy-Levy syndrome rubella Rubinstein-Taybi syndrome rumination disorder Russell-Silver syndrome Ruvalcaba-Myhre-Smith syndrome (BRR) S Saethre-Chotzen syndrome salivary disorder salivary gland disorders salivary gland hyperplasia salmonellosis Sandhoff disease Sanfilippo syndrome sarcoidosis scapuloperoneal myopathy Scheurermann('s) Disease Schmidt syndrome Schoenlein-Henoch purpura scleroderma scleromyxedema sclerosing cholangitis scrapie seafood poisoning seborrheic keratosis Seckel syndrome secondary pulmonary hypertension Seitelberger disease selective (elective) mutism selenium poisoning sensorineural hearing loss sensory neuropathy septo-optic dysplasia severe combined immunodeficiency Sheehan syndrome shingles short syndrome Shprintzen syndrome Shwachman syndrome Shwartzman phenomenon Shy-Drager syndrome sialadenitis sialidosis sickle cell anemia sickle cell crisis sickle cell disease sideroblastic anemia siderosis SIDS SIDS (sudden infant death syndrome) silicosis simian B virus infection Simpson-Golabi-Behmel syndrome sinovial osteochondromatosis (chondromatosis) sinus cancer sirenomelia sitosterolemia Sjogren Larsson syndrome Sjogren's syndrome skeletal dysplasias sleep apnea Sly syndrome/disease (MSP type VII) small cell lung cancer Smith-Lemli-Opitz syndrome Sotos syndrome spasmodic dysphonia spasmodic torticollis spastic dysphonia sphingolipidosis spina bifida spinal bulbar muscular atrophy spinal cord disorder spinal cord injury spinal cord neoplasm spinal muscular atrophy spinal shock spinal stenosis spirochetes disease spleen neoplasm splenomegaly split-hand deformity spondylitis spondyloepiphyseal dysplasia spondyloepiphyseal dysplasia tarda spongiform encephalopathy sporothricosis Sprengel deformity squamous cell carcinoma Stein-Leventhal syndrome Stevens-Johnson syndrome Stickler syndrome stiff-man syndrome stomach cancer Sturge-Weber syndrome subacute cerebellar degeneration subacute sclerosing panencephalitis subcutaneous fibrosis sucrase-isomaltase deficiency sudden infant death syndrome (SIDS) super mesenteric artery syndrome Sutton disease II Sweet syndrome syncope Syndenham's chorea synovial cancer synovitis syphilis syringobulbia syringomyelia systemic lupus erythematosus systemic sclerosis T tachycardia Takayasu arteritis Tangier disease tardive dyskinesia tarsal tunnel syndrome Tarui disease (GSD VII) taste disorder Tay syndrome ichthyosis Tay-Sachs disease Taybi syndrome      (Oto-Palatal-digital syndrome, type I) telangiectasia telecanthus telencephalic leukoencephalopathy temporal arteritis temporary erythroblastopenia of childhood teratocarcinosarcoma testes cancer testes neoplasm testicular cancer testicular feminization (new name:            androgen insensitivity syndrome (AIS)) tetany tethered spinal cord disease/syndrome tetrahydrobiopterin deficiencies tetralogy of Fallot tetrasomy 18p thalamic syndrome (Dejerine-Roussy syndrome) thalassemia thalassemia major thalassemia minor thoracic outlet syndrome thrombasthenia thrombocytopathy thrombocytopenia thrombocytopenia absent radius syndrome thrombocytopenia purpura thrombocytosis thrombotic thrombocytopenic purpura thymus neoplasm thyroid cancer thyroid neoplasm Tietze syndrome tinnitus Togaviridae disease Tolosa-Hunt syndrome tongue carcinoma tongue neoplasm tooth and nail syndrome TORCH syndrome (Toxoplasmosis-rubella          -cytomegalovirus-herpes syndrome) torsion dystonia Tourette disorder/syndrome Townes-Brocks syndrome toxic encephalopathy toxic shock syndrome toxocariasis toxoplasmosis toxoplasmosis (congenital) Toxoplasmosis-rubella-cytomegalovirus        -herpes syndrome (TORCH syndrome) Tracheobroncho malacia tracheoesophageal fistula transitional cell carcinoma transneuronal degeneration transposition of great vessel transverse myelitis treponema infection tricho-dento-osseous syndrome trichorhinophalangeal syndrome trichotillomania trigeminal neuralgia trigeminal neuralgia (Tic Douloureux) trimethylaminuria (fish odor syndrome                 or fish malodor syndrome) triploid syndrome trismus pseudocamptodactyly syndrome trisomy trisomy 6 trisomy 8 trisomy 9 trisomy 9 mosaic trisomy 9q trisomy 9 translocation,inversion or duplication trisomy 10q trisomy 13 syndrome trisomy 18 syndrome tropical sprue true hermaphroditism trypanosomiasis tuberculosis tuberculous meningitis tuberculous uveitis tuberous sclerosis Turner's syndrome typhoid typhus tyrosinemia U ulcerative colitis urea cycle enzymopathies uremia urinary calculi urinary tract neoplasm urticaria urticaria pigmentosa Usher syndrome uveitis V valinemia Van der Woude syndrome variegate porphyria vascular malformations of the brain vasculitis vasopressin-resistant diabetes insipidus ventricular hypertrophic spleen disorder ventricular septal defects vernal keratoconjunctivitis vestibulitis (vulvoldynia) VHL (Von Hippel-Lindau disease) viral myelinopathy virilism Visna Maedi complex Vitamin D deficiency rickets Vitamin D resistant rickets vitiligo VKH (Vogt-Koyanagi-Haranda syndrome) Vogt-Koyanagi-Haranda syndrome (VKH) vulvoldynia (vestibulitis) Von Gierke disease (GSD I) Von Hippel-Lindau disease (VHL) Von Willebrand disease W Waardenburg syndrome Wagner-Stickler syndrome (arthro-ophthalmopathy) Waldenstrom macroglobulinemia` Waldmann disease Walker carcinoma Walker-Warburg syndrome wallerian degeneration warm-reacting-antibody hemolytic anemia Weaver syndrome Weber-Christian disease Wegener's granulomatosis Weil syndrome Weill-Marchesani syndrome Werdnig-Hoffmann disease Wermer syndrome Werner's syndrome Wernicke Korsakoff syndrome West syndrome western equine encephalitis Whipple disease Wieacker syndrome Williams syndrome Wilms' tumor Wilson disease Winchester syndrome Wiskott Aldrich syndrome Wolf-Hirschorn syndrome Wolff-Parkinson-White syndrome Wolfram syndrome Wyburn-Mason's syndrome X X-linked alpha thalassemia mental            retardation syndrome (ATR-X) X-linked bulbospinal muscular atrophy          (Kennedy('s) Disease) X-linked dominant X-linked ichthyosis X-linked juvenile retinoschisis X-linked lymphoproliferative syndrome X-linked or familial hypophosphatemia (rickets) X-linked recessive X-linked trait xeroderma pigmentosum xerostomia XYY syndrome Y yaws yellow fever yellow nail syndrome Yersinia pestis disease Z Zellweger syndrome Zollinger-Ellison syndrome Zuska's Disease