digital 21 hydroxylase deficiency21 Hydroxyulase Deficiency A Cartilage hypoplasiaAchondroplasia AcromegalyAcromegaly Aicardi goutières syndromeAicardi goutières syndrome (ags) Arterial liver dysplasia syndromeAlagille syndrome AlbinismAlbinism Hereditary progressive nephritis (Alport syndrome)Alport syndrome Amyotrophic lateral sclerosisAmyotrophic lateral sclerosis (ALS) Angel syndromeAngelman syndrome (AS) Aplastic anemiaAregenerative anemia Arginase deficiencyArginase Deficiency Turner syndromeAsphyxiating Thoracic Dystrophy (Jeune syndrome) Ataxia telangiectasiaAtaxia-telangiectasia (AT) Atypical hemolytic uremic syndromeAtypical hemolytic uremic syndrome (aHUS) Autosomal recessive polycystic kidney diseaseAutosomal recessive polycystic kidney disease (ARPKD) Autoimmune encephalitisAutoimmune Encephalitis Autoimmune hypophysitisAutoimmune Hypophysitis B Behcet diseaseBeh et disease Beta ketothiolase deficiencyBeta ketothiolase deficiency Biotinase deficiencyBiotinidase deficiency C Abnormal trunk developmentCampomelic dysplasia (CD) Cardiac ion channel diseaseCardic Ion Channelopathies Castleman diseaseCastleman Disease Patellar muscular atrophyCharcot Marie Tooth disease (CMT) Primary chronic granulomatosisChronic primary granulomatous disease CitrullineemiaCitrullinemia Congenital adrenal hyperplasiaCongenital adrenal hyperplasia (CAH) Congenital erythropoietic anemiaCongenital dyserythropoietic anemia (CDA) Congenital Cajal interstitial cell hyperplasia with intestinal neuronal dysplasiaCongenital Interstitial Cell of Cajal Hyperplasia with Neuronal Congenital muscle weakness syndromeCongenital Myasthenic Syndromes (CMS) Congenital scoliosisCongenital Scoliosis Coronary artery dilatationCoronary Artery Ectasia Meow syndrome (5P-syndrome)Cri du chat syndrome (5p syndrome) Crohn's diseaseCrohn's disease Hidden eye - and refers to (toe) syndromeCryptophthalmos syndactylysyndrom Cystic fibrosisCystic fibrosis (CF) D Congenital pure erythropoiesis anemiaDiamond-Blackfan Anemia Infant severe myoclonic epilepsy (dravet syndrome)Dravet syndrome Duchenne muscular dystrophyDuchenne muscular dystrophy (DMD) Congenital keratosisDyskeratosiscongenita E Early onset Parkinson's diseaseEarly-onset Parkinson disease Bullous epidermolysisEpidermolysisbullosa (EB) Erdheim-Chester diseaseErdheim-Chester Discase PolycythemiaErythocytosis F Fabry diseaseFabry disease Scapular muscular dystrophyFacioscapulohumeral muscular dystrophy Familial hypercholesterolemiaFamilial hyperchylomicronemia (FH) Congenital hyperinsulinemiaFamilial hyperinsulinemic hypoglycemia (HHF) Familial hypokalemiaFamilial Hypokalemia Familial Mediterranean feverFamilial Mediterranean Fever Fanconi anemiaFanconi anemia (FA) Fatty acid oxidation defectFatty acid oxidation defect Fragile x chromosome syndromeFragile X syndrome (FX) Freeman-Shelden's syndromeFreeman-Sheldon syndrome (FSS) G GalactosemiaGalactosemia Gaucher diseaseGaucher disease (GD) Systemic myasthenia gravisGeneral Myathenic Gravis Physic liver dysfunctionGilbert's Syndrome Gitelman syndromeGitelman syndrome Glutaric acidemiaGlutaric academia (GA) Glycogen accumulation diseaseGlycogen storage disease (GSD) Glycogen storage disease (type I, II)Glycogen Storage Disease (Type I, II) Growth hormone deficiencyGrowth hormone deficiency H hemophiliaHemophilia Hereditary angioedemaHereditary angioedema (HAE) Hereditary bullous epidermolysisHereditary Epidermolysis Bullosa Hereditary fructose intoleranceHereditary fructose intolerance Hereditary hypomagnesemiaHereditary Hypomagnesemia Hereditary multiple cerebral infarction dementiaHereditary multi-infarct dementia (Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, CADASIL) Familial spastic paraplegiaHereditary spastic paraplegia (HSP) Hereditary hemorrhagic telangiectasiaHeriditary hemorrhagic telangiectasia (HHT) Fully carboxylase synthetase deficiencyHolocarboxylasesynthetase deficiency HomocysteineemiaHomocysteinemia Homozygous familial hypercholesterolemiaHomozygous Hypercholeasterolemia Huntington's diseaseHuntington disease (HD) HHH syndromeHyperornithinaemia-Hyperammonaemia-Hbomocitrullinuria Syndrome HyperphenylalaninemiaHyperphenylalaninemia High prostaglandin e syndrome (Bart syndrome)Hyperprostaglandin E syndrome (Bartter syndrome) Seasonal rib dysplasiaHypochondroplasia Hypokalemia periodic paralysisHypokalemic periodic paralysis Low alkaline phosphataseHypophosphatasia Hypophosphorus ricketsHypophosphatemic rickets I Idiopathic pulmonary fibrosisIdiopathic Pulmonary Fibrosis Idiopathic cardiomyopathyIdiopathis Cardiomyopathy Idiopathic hypogonadotropin hypogonadismIdiopathis Hypogonadotropic Hypogonadism IgG4-related diseasesIgG4 related Disease Autoimmune enteropathy type IImmune dysregulation polyendocrinopathy enteropathy X linked syndrome (IPEX) Congenital cholic acid synthesis disorderInborn errors of bile acid synthesis Pigment incontinenceIncontinentiapigmenti IsovalerateIsovalericacidemia (IVA) J Joubert syndromeJoubert syndrome K Kabuki mask syndromeKabuki syndrome Kalman syndromeKallmann syndrome Klinefelter syndromeKlinefelter syndrome L Dwarf syndromeLaron syndrome Leber hereditary optic neuropathyLeber hereditary optic neuropathy (LHON) Lennox gastaut syndromeLennox Gastaut syndrome (LGS) Limb-type muscular dystrophyLimb girdle muscular dystrophy (LGMD) No cerebral malformationLissencephaly Long chain 3 hydroxyacyl-CoA dehydrogenase deficiencyLong Chain 3 hydroxyacyl CoA Dehydrogenase Deficiency LymphangiomyomatosisLymphangioleiomyomatosis (LAM) Tolerance to urine protein intoleranceLysine Urinary Protein Intolerance Lysosomal acid lipase deficiencyLysosomal acid lipase deficiency M Maple diabetesMaple syrup urine disease (MSUD) Marfan syndromeMarfan syndrome Mccune Albright syndromeMcCune Albright syndrome (MAS) Medium chain acyl-CoA dehydrogenase deficiencyMedium chain acyl CoA dehydrogenase deficiency (MCADD) Methylmalonic acidemiaMethylmalonic academia (MA) Mitochondrial myopathyMitochodrial Encephalomyopathy Mitochondrial myopathy with hyperlactosis and stroke-like episodes (Melas syndrome)Mitochondrial encephalopathy, lactic acidosis, andstroke-like episodes (MELAS) Moyamoya diseaseMoyamoya disease Mucopolysaccharide storage diseaseMucopolysaccharidosis (MPS) Multifocal motor neuropathyMulti Focal Motor Neurothy Multiple acyl-CoA dehydrogenase deficiencyMultiple Acyl CoA Dehydrogenase Deficiency Multiple epiphyseal dysplasiaMultiple epiphyseal dysplasia Multiple myelomaMultiple myeloma Multiple sclerosisMultiple Sclerosis (MS) Multiple system atrophyMultiple System Atrophy Myasthenia gravisMyasthenia gravis (MG) Myelodysplastic syndromeMyelodysplastic syndromes (MDS) Progressive ossifying myositisMyositis ossificansprogressiva (MOP) Muscular mandatory malnutritionMyotonic dystrophy (MD) N Axillary forelimb end dysplasiaNageracrofacialdysostosis (Preaxialacrodysostosis) N-acetylglutamate synthetase deficiencyNAGS Deficiency Nail sacral syndrome (turner kieser syndrome)Nail patella syndrome (Turner Kieser syndrome) Mitochondrial myopathyNemaline myopathy Neonatal diabetesNeonatal Diabetes Mellitus Neonatal respiratory distress syndromeNeonatal respiratory distress syndrome Bamboo hair syndrome (netherton syndrome)Netherton syndrome NeurofibromaNeurofibromatosis (NF) Optic neuromyelitisNeuromyelitisoptica (NMO) NeuropathyNeuropathy ataxia, and retinitis pigmentosa (NARP syndrome) Niemann's diseaseNiemann Pick disease (NPD) Nonsyndromic hearing lossNon Syndromic Deafness Nunan syndromeNoonan syndrome (NS) O Ornithine carbamoyltransferase deficiencyOrnithine Transcarbamylase Deficiency Osteogenesis imperfecta (brittle bone disease)Osteogenesisimperfecta (OI) P Palmoplantar keratosisPalmoplantarkeratoderma Parkinson's DiseaseParkinson Disease (Young onset, Early onset) Paroxysmal nocturnal hemoglobinuriaParoxysmal nocturnal hemoglobinuria (PNH) Pey diseasePelizaeus Merzbacher disease (PMD) Permanent neonatal diabetesPermanent Neonatal Diabetes Mellitus Black spot polyposisPeutz Jeghers syndrome (PJS) PhenylketonuriaPhenylketonuria (PKU) POEMS syndromePOEMS Syndrome Alveolar proteinosisPolmonary Alveolar Proteinosis Cystic fibrosisPolmonary Cystic Fibrosis Pompe diseasePompe disease PorphyrinPorphyria Praderville syndromePrader Willi syndrome (PWS) Primary carnitine deficiencyPrimary carnitine deficiency (PCD) Primary combined immunodeficiencyPrimary Combined Immune Deficiency Primary hereditary dystoniaPrimary Hereditary Dystonia Primary light chain amyloidosisPrimary Light Chain Amyloidosis Idiopathic pulmonary hypertensionPrimary Pulmonary Hypertension (PPH) Progressive familial intrahepatic cholestasisProgressive familial intrahepatic cholestasis Propionic acidemiaPropionic academia Pseudochondral hypoplasiaPseudoachondroplasia Peritoneal pseudomyxomaPseudomyxoma peritone (PMP) Langerhans cell histiocytosisPulmonary Langerhans cell histiocytosis (PLCH) R X interlocking ichthyosisRecessive X linked ichthyosis Retinitis pigmentosaRetinitis pigmentosa (RP) RetinoblastomaRetinoblastoma Reiter syndromeRett syndrome Rubinstein taybi syndromeRubinstein Taybi syndrome S sclerodermaScleroderma Severe combined immunodeficiencySevere combined immunodeficiency (SCID) Severe congenital agranulocytosisSevere congenital neutropenia Sickle cell anemiaSickle cell disease Silver Russell syndromeSilver Russell Syndrome GlutamineSitosterolemia Spinal medullary muscular dystrophy (Kennedy's disease)Spinal and bulbar muscular atrophy (Kennedy disease) Spinal muscular atrophySpinal muscular atrophy (SMA) Spinocerebellar ataxiaSpinocerebellar ataxia (SCA) Systemic sclerosisSystemic Sclerosis T Tetrahydrobiopterin deficiencyTetrahydrobiopterin deficiency ThalassemiaThalassemia Tuberous sclerosisTuberous sclerosis complex (TSC) Turner syndromeTurner syndrome TyrosinemiaTyrosinemia Primary tyrosinemiaTyrosinemia U Urea circulation disorderUrea cycle disorder V Very long acyl-CoA deoxygenase deficiencyVery Long Chain Acyl CoA Dehydrogenase Deficiency Lindau syndrome (vhl syndrome)Von Hippel Lindau disease (VHL syndrome) W Williams syndromeWilliams syndrome (WS) Hepatolenticular degenerationWilson disease (WD) Eczema thrombocytopenia with immunodeficiency syndromeWiskott Aldrich syndrome (WAS) X X-linked adrenal leukodystrophyX linked adrenoleukodystrophy (XLD) X-linked agammaglobulinemia in childrenX linked agammaglobulinemia (XLA) X-linked high igm syndromeX linked hyper IgM syndrome X-linked lymphoproliferative disorderX linked Lymphoproliferative Disease