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01251020501002005001k2k5k10k20k50k100k200k500k1M01251020501002005001k2k5kPapers in last 10 years →Interventional trials →Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency3-methylcrotonyl-CoA carboxylase deficiency3C syndrome47,XYY syndromeTetrasomy X syndrome48,XXYY syndromePentasomy X syndrome6-pyruvoyl-tetrahydropterin synthase deficiencyAbetalipoproteinemiaAchondroplasiaBlue cone monochromatismFatal infantile lactic acidosis with methylmalonic aciduriaDistal renal tubular acidosis3-hydroxy-3-methylglutaric aciduriaSuccinic semialdehyde dehydrogenase deficiencyArgininosuccinic aciduriaFumaric aciduriaGlutaryl-CoA dehydrogenase deficiencyMethylmalonic acidemia with homocystinuriaVitamin B12-unresponsive methylmalonic acidemiaVitamin B12-responsive methylmalonic acidemiaMevalonic aciduriaHereditary orotic aciduriaOxoglutaric aciduriaGlutathione synthetase deficiencyIsovaleric acidemiaPipecolic acidemiaPropionic acidemiaAcrocallosal syndromeAcrodermatitis enteropathicaAcrokeratoelastoidosis of CostaAcromelanosisAcromesomelic dysplasia, Maroteaux typeDyschromatosis symmetrica hereditariaMedium chain acyl-CoA dehydrogenase deficiencyX-linked adrenoleukodystrophyNeonatal adrenoleukodystrophyAdenosine monophosphate deaminase deficiencyAdenylosuccinate lyase deficiencyX-linked agammaglobulinemiaCongenital bilateral absence of vas deferensPenile agenesisAicardi syndromeAicardi-Goutières syndromeAlagille syndromeAlbers-Schönberg osteopetrosisX-linked recessive ocular albinismAlkaptonuriaGlycogen storage disease due to aldolase A deficiencyAlexander diseaseAllan-Herndon-Dudley syndromeAlpha-1-antitrypsin deficiencyAlpha-mannosidosisAlpha-sarcoglycan-related limb-girdle muscular dystrophy R3Alport syndromeAlström syndromeLeber congenital amaurosisAmoebiasis due to Entamoeba histolyticaAmoebiasis due to free-living amoebaeProximal spinal muscular atrophyChylomicron retention diseaseAngelman syndromeGorham-Stout diseaseAngiostrongyliasisStrongyloidiasisAnkylostomiasisCongenital alpha2-antiplasmin deficiencyAntiphospholipid syndromeAntisynthetase syndromeHereditary thrombophilia due to congenital antithrombin deficiencyAntley-Bixler syndromeFanconi anemiaFamilial abdominal aortic aneurysmApert syndromeIdiopathic aplastic anemiaArgininemiaAromatase deficiencyAspartylglucosaminuriaFriedreich ataxiaAtaxia with vitamin E deficiencyFamilial paroxysmal ataxiaAutosomal recessive spastic ataxia of Charlevoix-SaguenayAtaxia-telangiectasiaDentatorubral pallidoluysian atrophyMultiple system atrophyLeber hereditary optic neuropathyAtresia of urethraBOR syndromeBabesiosisBannayan-Riley-Ruvalcaba syndromeBardet-Biedl syndromeBarth syndromeBartter syndromeBazex-Dupré-Christol syndromeAuriculoosteodysplasiaCongenital contractural arachnodactylyBeckwith-Wiedemann syndromeBehçet diseaseBeta-mannosidosisBeta-sarcoglycan-related limb-girdle muscular dystrophy R4Birt-Hogg-Dubé syndromeBjörnstad syndromeDiamond-Blackfan anemiaBloom syndromeBlepharophimosis-ptosis-epicanthus inversus syndromeBorjeson-Forssman-Lehmann syndromeDiphyllobothriasisPseudopelade of BrocqBrugada syndromeBudd-Chiari syndromeHereditary butyrylcholinesterase deficiencyChronic beryllium diseaseBeta-ketothiolase deficiencyCACH syndromeCADASILCHARGE syndromeCHILD syndromeCampomelic dysplasiaCanavan diseaseAnaplastic thyroid carcinomaParathyroid carcinomaLynch syndromeHereditary breast and/or ovarian cancer syndromeDifferentiated thyroid carcinomaCarbamoyl-phosphate synthetase 1 deficiencyNasopharyngeal carcinomaFamilial isolated dilated cardiomyopathyCarnitine palmitoyl transferase 1A deficiencyCarnitine palmitoyltransferase II deficiencySystemic primary carnitine deficiencyCarnitine-acylcarnitine translocase deficiencyCastleman diseaseCongenital cataract-anterior segment dysgenesis syndromeHereditary hyperferritinemia-cataract syndromeChédiak-Higashi syndromeLoose anagen syndromeRinged hair diseaseWoolly hairPrimary sclerosing cholangitisProgressive familial intrahepatic cholestasisCholeraMetaphyseal chondrodysplasia, Schmid typeCartilage-hair hypoplasiaRhizomelic chondrodysplasia punctataChordomaBirdshot chorioretinopathyChoroideremiaX-linked hypohidrotic ectodermal dysplasiaChromomycosisEosinophilic granulomatosis with polyangiitisCherubismScimitar syndromePrimary biliary cholangitisSystemic capillary leak syndromeHidrotic ectodermal dysplasiaCoats diseaseCockayne syndromeCoffin-Lowry syndromeCohen syndromeCat-eye syndromeOccipital horn syndromeCornelia de Lange syndromeIsolated corpus callosum agenesisCowden syndromeCrandall syndromeSporadic Creutzfeldt-Jakob diseaseCrigler-Najjar syndromeCrouzon syndromeCyclosporiasisFamilial cylindromatosisCystathioninuriaCystinosisCystinuriaIsolated Dandy-Walker malformationDarier diseaseDelta-sarcoglycan-related limb-girdle muscular dystrophy R6Denys-Drash syndromeDermatomyositisErosive pustular dermatosis of the scalpArginine vasopressin resistanceDihydropteridine reductase deficiencyDiphalliaFamilial aortic dissectionDopamine beta-hydroxylase deficiencyDracunculiasisSickle cell anemiaDuane retraction syndromeDubin-Johnson syndromeDubowitz syndromeTrisomy 9p syndromeDuplication of urethraDyggve-Melchior-Clausen diseaseLéri-Weill dyschondrosteosisDyschromatosis universalis hereditaria46,XY complete gonadal dysgenesis46,XX gonadal dysgenesisPrimary ciliary dyskinesiaNager syndromePostaxial acrofacial dysostosisAutosomal recessive hypohidrotic ectodermal dysplasiaFibrous dysplasia of boneEarly-onset generalized limb-onset dystoniaEpidermolysis bullosa simplex with muscular dystrophyLaminin subunit alpha 2-related congenital muscular dystrophyEmery-Dreifuss muscular dystrophyAutosomal dominant limb-girdle muscular dystrophy type 1BAutosomal dominant limb-girdle muscular dystrophy type 1CAutosomal dominant limb-girdle muscular dystrophy type 1ACalpain-3-related limb-girdle muscular dystrophy R1Dysferlin-related limb-girdle muscular dystrophy R2Facioscapulohumeral dystrophyOculopharyngeal muscular dystrophyCongenital muscular dystrophy, Fukuyama typeSteinert myotonic dystrophyBernard-Soulier syndromeT-B-NK+ severe combined immunodeficiency due to DCLRE1C deficiencyT-B+NK- severe combined immunodeficiency due to gamma chain deficiencyT-B-NK- severe combined immunodeficiency due to adenosine deaminase deficiencyWolf-Hirschhorn syndromeMonosomy 5p syndromeDemodicidosisAlveolar echinococcosisHypermobile Ehlers-Danlos syndromeVascular Ehlers-Danlos syndromeClassical Ehlers-Danlos syndromeHereditary elliptocytosisEllis-Van Creveld syndromeCongenital rubella syndromeCongenital varicella syndromeCongenital enterovirus infectionCongenital herpes simplex virus infectionFetal cytomegalovirus syndromeFetal parvovirus syndromeOllier diseaseTick-borne encephalitisMitochondrial neurogastrointestinal encephalomyopathyBifunctional enzyme deficiencyInherited epidermodysplasia verruciformisSelf-limited infantile epilepsyJuvenile myoclonic epilepsyProgressive myoclonic epilepsy type 1Autosomal dominant epidermolytic ichthyosisLamellar ichthyosisErythroderma desquamativumErythrokeratoderma ''en cocardes''Progressive symmetric erythrokeratodermiaErythrokeratodermia variabilisAcute erythroid leukemiaSkeletal Ewing sarcomaApparent mineralocorticoid excessMultiple osteochondromasExstrophy-epispadias complexFabry diseaseCongenital factor II deficiencyCongenital factor V deficiencyCongenital factor VII deficiencyCongenital factor X deficiencyCongenital factor XI deficiencyCongenital factor XII deficiencyCongenital factor XIII deficiencyCongenital intrinsic factor deficiencyFarber diseaseHereditary atrial fibrillationCongenital fibrinogen deficiencyFibrodysplasia ossificans progressivaFamilial multiple fibrofolliculomaHemorrhagic fever-renal syndromeFamilial Mediterranean feverHyperimmunoglobulinemia D with periodic feverDissecting cellulitis of the scalpQuinquaud folliculitis decalvansFrasier syndromeFructose-1,6-bisphosphatase deficiencyFucosidosisGalactosialidosisGamma-sarcoglycan-related limb-girdle muscular dystrophy R5GM1 gangliosidosisGaucher diseaseGerstmann-Straussler-Scheinker syndromeGitelman syndromeGlioblastomaFamilial glucocorticoid deficiencyGlycogen storage disease due to glucose-6-phosphatase deficiencyGlycogen storage disease due to acid maltase deficiencyGlycogen storage disease due to glycogen debranching enzyme deficiencyGlycogen storage disease due to glycogen branching enzyme deficiencyGlycogen storage disease due to muscle glycogen phosphorylase deficiencyGlycogen storage disease due to liver glycogen phosphorylase deficiencyGlycogen storage disease due to muscle phosphofructokinase deficiencySimpson-Golabi-Behmel syndromeGoldenhar syndromeAnti-glomerular basement membrane diseaseGordon syndromeGorlin syndromeChronic granulomatous diseaseGreig cephalopolysyndactyly syndromeGriscelli syndromeGuanidinoacetate methyltransferase deficiencyX-linked mixed deafness with perilymphatic gusherHuriez syndromeHepatic cystic hamartomaHirschsprung diseaseLangerhans cell histiocytosisHistoplasmosisClassic Hodgkin lymphomaHolt-Oram syndrome46,XX testicular difference of sex developmentHomocystinuria due to cystathionine beta-synthase deficiencyHomocystinuria due to methylene tetrahydrofolate reductase deficiencyChronic hiccupGiant cell arteritisHuntington diseaseCystic echinococcosisHymenolepiasisFamilial hyperaldosteronism type IFamilial hyperaldosteronism type IIFamilial hypocalciuric hypercalcemiaGlycine encephalopathyIsolated glycerol kinase deficiencyHyperkeratosis lenticularis perstansHyperlipoproteinemia type 1DysbetalipoproteinemiaGyrate atrophy of choroid and retinaHyperornithinemia-hyperammonemia-homocitrullinuria syndromePrimary hyperoxaluriaNeonatal severe primary hyperparathyroidismHyperprolinemia type 1Idiopathic/heritable pulmonary arterial hypertensionMalignant hyperthermia of anesthesiaFamilial hyperthyroidism due to mutations in TSH receptorApolipoprotein A-I deficiencyFamilial hypoaldosteronismAutosomal dominant hypocalcemiaHypochondroplasiaIchthyosis-male hypogonadism syndromeNormosmic congenital hypogonadotropic hypogonadismHypophosphatasiaIsolated right ventricular hypoplasiaPure autonomic failureMarie Unna hereditary hypotrichosisNeonatal hemochromatosisParoxysmal nocturnal hemoglobinuriaHepatoblastomaVisceral heterotaxyX-linked lissencephaly with abnormal genitaliaIBIDS syndromeAcquired ichthyosisSuperficial epidermolytic ichthyosisHarlequin ichthyosisRecessive X-linked ichthyosisIncontinentia pigmentiCongenital plasminogen activator inhibitor type 1 deficiencyFatal familial insomniaHereditary fructose intoleranceLysinuric protein intoleranceIsosporiasisJeune syndromeIsolated Joubert syndromeKID syndromeKallmann syndromeKearns-Sayre syndromeKennedy diseaseKimura diseaseCongenital high-molecular-weight kininogen deficiencyKniest dysplasiaAutosomal dominant severe congenital neutropeniaKrabbe diseaseUrachal cystOmphalomesenteric cystProliferating trichilemmal cystFamilial keratoacanthomaKeratoderma hereditarium mutilansTransgrediens et progrediens palmoplantar keratodermaThost-Unna palmoplantar keratodermaKerion celsiNoonan syndrome with multiple lentiginesLafora diseaseTrichorhinophalangeal syndrome type 2Larsen syndromeCreeping myiasisGraham Little-Piccardi-Lassueur syndromeLeigh syndromeLeishmaniasisDonohue syndromeLeptospirosisLesch-Nyhan syndromeMaple syrup urine diseaseMetachromatic leukodystrophyAcute monoblastic/monocytic leukemiaAcute myelomonocytic leukemiaAcute megakaryoblastic leukemiaAcute promyelocytic leukemiaChronic myeloid leukemiaHereditary leiomyomatosis and renal cell cancerLi-Fraumeni syndromeLichen planopilarisLiddle syndromeCongenital generalized lipodystrophyRoch-Leri mesosomatous lipomatosisLipoid proteinosisMiller-Dieker syndromeListeriosisOculocerebrorenal syndrome of LoweSystemic lupus erythematosusToxic epidermal necrolysisLymphangioleiomyomatosisFamilial hemophagocytic lymphohistiocytosisBurkitt lymphomaFollicular lymphomaLeprosyLegionnaires diseaseMELASMERRFMODYMalakoplakiaMarfan syndromeMarinesco-Sjögren syndromeMarshall syndromeMarshall-Smith syndromeMcCune-Albright syndromePeripartum cardiomyopathyMeckel syndromeMenkes diseaseCongenital microcoria22q11.2 deletion syndromeMicrophthalmia, Lenz typeFamilial or sporadic hemiplegic migraineMoebius syndromeImmunodeficiency by defective expression of MHC class IIMonilethrix21q deletion syndromeMuckle-Wells syndromeMucolipidosis type IIMucolipidosis type IIIMucolipidosis type IVMucopolysaccharidosis type 1Mucopolysaccharidosis type 2Mucopolysaccharidosis type 3Mucopolysaccharidosis type 4Mucopolysaccharidosis type 6Mucopolysaccharidosis type 7Multiple sulfatase deficiencyCystic fibrosisMuir-Torre syndromeMuscle-eye-brain diseaseMyasthenia gravisCongenital myasthenic syndromeFuruncular myiasisMacrophagic myofasciitisX-linked centronuclear myopathyCentral core diseaseMultiminicore myopathyVocal cord and pharyngeal distal myopathyGNE myopathyDistal myopathy, Welander typeProximal myotonic myopathyTibial muscular dystrophyBethlem muscular dystrophyInclusion body myositisThomsen and Becker diseaseFamilial atrial myxomaMedulloblastomaCongenital primary megaureterFamilial melanomaAutosomal recessive methemoglobinemiaHomocystinuria without methylmalonic aciduriaNAME syndromeFamilial multiple nevi flammeiLarge/giant congenital melanocytic nevusNance-Horan syndromeDiastrophic dysplasiaShort stature due to growth hormone qualitative anomalyNon-acquired isolated growth hormone deficiencyShort stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemiaLaron syndromeNetherton syndromeNeuroblastomaNeurofibromatosis type 1Full NF2-related schwannomatosisNeurofibromatosis-Noonan syndromePolyneuropathy associated with IgM monoclonal gammopathy with anti-MAGHereditary neuropathy with liability to pressure palsiesMultifocal motor neuropathyHereditary sensory and autonomic neuropathy type 4Giant axonal neuropathyNARP syndromeNiemann-Pick disease type CNijmegen breakage syndromeNoonan syndromeNorrie diseaseLCAT deficiencyMultiple endocrine neoplasia type 1Multiple endocrine neoplasia type 2NephroblastomaNephronophthisisHereditary steroid-resistant nephrotic syndromeMutilating palmoplantar keratoderma with periorificial keratotic plaquesOmphaloceleCongenital central hypoventilation syndromeLymphedema with yellow nailsMitochondrial DNA-related progressive external ophthalmoplegiaOrnithine transcarbamylase deficiencyAlbright hereditary osteodystrophyOsteogenesis imperfectaAutosomal recessive malignant osteopetrosisOsteosarcomaPIBIDS syndromePallister-Hall syndromeMalariaAccessory pancreasAnnular pancreasAutosomal dominant hereditary chronic pancreatitisPancreatoblastomaPapillon-Lefèvre syndromeMalignant atrophic papulosisNormokalemic periodic paralysisHypokalemic periodic paralysisHyperkalemic periodic paralysisProgressive supranuclear palsyParamyotonia congenita of Von EulenburgPearson syndromeAlopecia totalisAlopecia universalisPelizaeus-Merzbacher diseaseBullous pemphigoidPemphigus vulgarisPendred syndromePlaguePeters anomalyPeters plus syndromePfeiffer syndromeGlycogen storage disease due to phosphoglucomutase deficiencyHemolytic anemia due to glucophosphate isomerase deficiencyGlycogen storage disease due to phosphoglycerate kinase 1 deficiencyHemolytic anemia due to diphosphoglycerate mutase deficiencyGlycogen storage disease due to muscle phosphorylase kinase deficiencyPhenylketonuriaIsolated Pierre Robin sequencePili bifurcatiGray platelet syndromeHypoplasminogenemiaPneumocystosisIdiopathic acute eosinophilic pneumoniaDevelopmental and epileptic encephalopathy with spike-wave activation in sleepAlpers-Huttenlocher syndromeMicroscopic polyangiitisRelapsing polychondritisPolycythemia veraAutosomal dominant polycystic kidney diseaseAutosomal recessive polycystic kidney diseasePolymyositisFamilial adenomatous polyposisAlpha delta granule deficiencyPorokeratosis of MibelliPalmoplantar porokeratosis of MantouxPorokeratosis plantaris palmaris et disseminataPrader-Willi syndromeHutchinson-Gilford progeria syndromeFamilial mitral valve prolapseProlidase deficiencySevere hereditary thrombophilia due to congenital protein S deficiencyProteus syndromeSevere hereditary thrombophilia due to congenital protein C deficiencyMitochondrial trifunctional protein deficiencyAutoimmune pulmonary alveolar proteinosisCongenital prekallikrein deficiencyPseudoachondroplasia46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency46,XY difference of sex development due to 5-alpha-reductase 2 deficiencyLeydig cell hypoplasiaPseudohypoaldosteronism type 1Pseudohypoaldosteronism type 2Pseudoxanthoma elasticumPurine nucleoside phosphorylase deficiencyImmunoglobulin A vasculitisPycnodysostosisPyomyositisPyruvate dehydrogenase deficiencyHemolytic anemia due to red cell pyruvate kinase deficiencyPolyarteritis nodosaRabson-Mendenhall syndromeRabiesInfantile Refsum diseaseAdult Refsum diseaseHereditary hemorrhagic telangiectasiaLujan-Fryns syndromeX-linked non-syndromic intellectual disabilityRett syndromeReynolds syndromeRhabdomyosarcomaQ feverAxenfeld-Rieger syndromeRubinstein-Taybi syndromeEstrogen resistance syndromeGeneralized glucocorticoid resistance syndromeRetinoblastomaRetinitis pigmentosaX-linked retinoschisisSAPHO syndromeSaethre-Chotzen syndromeSandhoff diseaseSarcoidosisSchinzel-Giedion syndromeSchizencephalySchwartz-Jampel syndromeAmyotrophic lateral sclerosisTuberous sclerosis complexScott syndromeSebastian syndromeSeckel syndromeMixed connective tissue diseaseShigellosisShwachman-Diamond syndromeSialidosis type 1Silver-Russell syndromeSjögren-Larsson syndromeSmith-Lemli-Opitz syndromeSmith-Magenis syndromeSneddon syndromeSotos syndromeHereditary spherocytosisPrimary myelofibrosisSporotrichosisStargardt diseaseStickler syndromeAdult-onset Still diseaseCongenital cervical spinal stenosisSuccinyl-CoA:3-oxoacid CoA transferase deficiencyEncephalopathy due to sulfite oxidase deficiencyFree sialic acid storage diseaseSusac syndromeCongenital nephrotic syndrome, Finnish typeSyringocystadenoma papilliferumSebocystomatosisTesticular seminomatous germ cell tumorTay-Sachs diseaseX-linked alpha-thalassemia-intellectual disability syndromeGlanzmann thrombastheniaMay-Hegglin thrombocytopeniaParis-Trousseau thrombocytopeniaX-linked isolated thrombocytopenia with normal platelets sizeFetal and neonatal alloimmune thrombocytopeniaNon-malignant and non-cirrhotic portal vein thrombosisTownes-Brocks syndromeCongenital toxoplasmosisTranscobalamin II deficiencyCongenitally uncorrected transposition of the great arteriesTreacher-Collins syndromeTrichinellosisTrichofolliculomaFamilial multiple trichoepitheliomaTriose phosphate-isomerase deficiencyTriple A syndromeDown syndromeHereditary progressive cardiac conduction defectDesmoid tumorPrimary adult heart tumorPrimary pediatric heart tumorYolk sac tumorTungiasisTurner syndromeTyrosinemia type 1Extragonadal teratomaPallister-Killian syndromeUsher syndromeVACTERL/VATER associationVan der Woude syndromeCutaneous small vessel vasculitisHepatic veno-occlusive diseaseFamilial exudative vitreoretinopathyVon Hippel-Lindau diseaseWAGR syndromeWaardenburg syndrome type 1Waardenburg syndrome type 2Waardenburg syndrome type 3Waardenburg-Shah syndromeWagner diseaseWalker-Warburg syndromeGranulomatosis with polyangiitisWells syndromeWerner syndromeVon Willebrand diseaseWilliams syndromeWilson diseaseWiskott-Aldrich syndromeFragile X syndromeCerebrotendinous xanthomatosisXeroderma pigmentosumCombined immunodeficiency due to ZAP70 deficiencyZellweger syndromeZollinger-Ellison syndromeAarskog-Scott syndromeAase-Smith syndrome type 1ABCD syndromeAblepharon macrostomia syndromeAbruzzo-Erickson syndromeFamilial nasal aciliaAcatalasemiaHyperammonemia due to N-acetylglutamate synthase deficiencyAchalasia-microcephaly syndromeIdiopathic achalasiaIsolated acheiropodiaAchondrogenesisShort-limb skeletal dysplasia with severe combined immunodeficiencySuccinic acidemia3-hydroxyisobutyric aciduriaD-glyceric aciduriaMalonic aciduriaAcalvariaAcrocraniofacial dysostosisAcrodysostosisAcrofacial dysostosis, Weyers typeHajdu-Cheney syndromeAcropectororenal dysplasiaAcropectorovertebral dysplasiaAcro-renal-mandibular syndromeAcro-renal-ocular syndromeAcromegalyAcromegaly-cutis verticis gyrata-corneal leukoma syndromeAcromegaloid facial appearance syndromeHypertrichosis-acromegaloid facial appearance syndromeAcromesomelic dysplasia, Hunter-Thompson typeAcromicric dysplasiaHereditary sensory and autonomic neuropathy type 2Acrorenal syndromeHereditary continuous muscle fiber activityIsolated absence/hypoplasia of fingers excluding thumb, unilateralAdams-Oliver syndromeAdenine phosphoribosyltransferase deficiencyAdrenomyodystrophyADULT syndromeAbsence of the pulmonary arteryInternal carotid absenceTesticular regression syndromePulmonary agenesisTibial hemimelia-polysyndactyly-triphalangeal thumb syndromeHypoglossia-hypodactyly syndromeAgnathia-holoprosencephaly-situs inversus syndromePAGOD syndromeFetal akinesia deformation sequenceX-linked fetal akinesia syndromeAlbinism-deafness syndromeErmine phenotypeOcular albinism with late-onset sensorineural deafness2q37 microdeletion syndromeScalp defects-postaxial polydactyly syndromeAlopecia-contractures-dwarfism-intellectual disability syndromeAlopecia antibody deficiencyAlopecia-epilepsy-pyorrhea-intellectual disability syndromeAutosomal dominant palmoplantar keratoderma and congenital alopeciaAlopecia-hypogonadism-extrapyramidal syndromeAlopecia-intellectual disability-hypergonadotropic hypogonadism syndromeX-linked Alport syndrome-diffuse leiomyomatosisEpstein syndromeEarly-onset autosomal dominant Alzheimer diseaseAmaurosis-hypertrichosis syndromeCongenital generalized hypertrichosis, Ambras typeAutosomal recessive ameliaAmelo-onycho-hypohidrotic syndromeEnamel-renal syndromeBeta-mercaptolactate cysteine disulfiduriaMetaphyseal anadysplasiaHydrops fetalisLethal hemolytic anemia-genital anomalies syndromeIsolated anencephaly/exencephalyRamos-Arroyo syndromeMosaic variegated aneuploidy syndromeVein of Galen malformationAneurysm of sinus of ValsalvaCongenital left ventricular aneurysmBlue rubber bleb nevus syndromeSystemic cystic angiomatosis-Seip syndromeHereditary neurocutaneous malformationTufted angiomaAniridia-renal agenesis-psychomotor retardation syndromeAniridia-cerebellar ataxia-intellectual disability syndromeAniridia-ptosis-intellectual disability-familial obesity syndromeAniridia-intellectual disability syndromeAniridia-absent patella syndromeAnisakiasisAnkyloblepharon-ectodermal defects-cleft lip/palate syndromeAnkyloblepharon filiforme adnatum-cleft palate syndromeAnkyloblepharon filiforme adnatum-imperforate anus syndromeDental ankylosisThumb stiffness-brachydactyly-intellectual disability syndromeMicrolissencephalyIsolated lissencephaly type 1 without known genetic defectsRenal-genital-middle ear anomaliesAnonychia-microcephaly syndromeAnophthalmia-megalocornea-cardiopathy-skeletal anomalies syndromeAnophthalmia-hypothalamo-pituitary insufficiency syndromeAnophthalmia plus syndromeMicrophthalmia with limb anomaliesAortic arch anomaly-facial dysmorphism-intellectual disability syndromeAphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndromeAphalangy-syndactyly-microcephaly syndromeAplasia cutis congenitaAplasia cutis congenita-intestinal lymphangiectasia syndromeAplasia cutis-myopia syndromeFibular aplasia-ectrodactyly syndromeLung agenesis-heart defect-thumb anomalies syndromeRadial deficiency-tibial hypoplasia syndromeUlnar hypoplasia-split foot syndromeCaudal appendage-deafness syndromeOcular motor apraxia, Cogan typeAprosencephaly cerebellar dysgenesisArachnodactyly-abnormal ossification-intellectual disability syndromeArachnodactyly-intellectual disability-dysmorphism syndromeX-linked mandibulofacial dysostosisAREDYLD syndromeIsolated arrhiniaArrhinia-choanal atresia-microphthalmia syndromeNeurogenic arthrogryposis multiplex congenitaArthrogryposis-like hand anomaly-sensorineural deafness syndromeInfantile-onset X-linked spinal muscular atrophyDistal arthrogryposis type 1Sheldon-Hall syndromeKuskokwim syndromeArthrogryposis multiplex congenita-whistling face syndromeArthrogryposis-oculomotor limitation-electroretinal anomalies syndromeProgressive pseudorheumatoid dysplasiaChylous ascitesAspergillosisAllergic bronchopulmonary aspergillosisCongenital unilateral hypoplasia of depressor anguli orisAtaxia-oculomotor apraxia type 1Autosomal recessive cerebelloparenchymal disorder type 3Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndromeCerebellar ataxia-hypogonadism syndromeCerebellar ataxia-ectodermal dysplasia syndromeX-linked progressive cerebellar ataxiaEarly-onset cerebellar ataxia with retained tendon reflexesAtaxia-tapetoretinal degeneration syndromeBenign paroxysmal tonic upgaze of childhood with ataxiaAtaxia-hypogonadism-choroidal dystrophy syndromeSpastic ataxia with congenital miosisOpsoclonus-myoclonus syndromeAtaxia-photosensitivity-short stature syndromeSpinocerebellar ataxia-dysmorphism syndromeInfantile-onset spinocerebellar ataxiaLethal ataxia with deafness and optic atrophyAtaxia-deafness-intellectual disability syndromeAtelosteogenesis type IAtherosclerosis-deafness-diabetes-epilepsy-nephropathy syndromeAtkin-Flaitz syndromeTMEM70-related mitochondrial encephalo-cardio-myopathyCongenital atransferrinemiaColonic atresiaEsophageal atresiaBurn-McKeown syndromeSmall bowel atresiaLarynx atresiaDuodenal atresiaMitral atresiaPulmonary atresia with ventricular septal defectPulmonary atresia-intact ventricular septum syndromeTricuspid atresiaProgressive hemifacial atrophyAutosomal dominant optic atrophy plus syndromeAutosomal dominant congenital benign spinal muscular atrophySpinal atrophy-ophthalmoplegia-pyramidal syndromeAurocephalosyndactylyCheilitis glandularisBalantidiasisBaller-Gerold syndromeBamforth-Lazarus syndromeBangstad syndromeBanki syndromePseudo-TORCH syndrome type 1Barber-Say syndromeBartsocas-Papas syndromeSevere microbrachycephaly-intellectual disability-athetoid cerebral palsy syndromeBeemer-Ertbruggen syndromeBehr syndromeMetaphyseal acroscyphodysplasiaBencze syndromeBest vitelliform macular dystrophyBIDS syndromeBrachydactyly-nystagmus-cerebellar ataxia syndromeSchistosomiasisMaxillonasal dysplasiaBlepharofacioskeletal syndromeBlepharonasofacial malformation syndromeAscher syndromeBlepharoptosis-myopia-ectopia lentis syndromeBonnemann-Meinecke-Reich syndromeBöök syndromeBoomerang dysplasiaTricho-retino-dento-digital syndromeDermato-cardio-skeletal syndrome, Borrone typeBotulismBowen-Conradi syndromeBowen syndromeAymé-Gripp syndromeBrachydactyly-elbow wrist dysplasia syndromeBrachydactyly-arterial hypertension syndromeBrachydactyly-mesomelia-intellectual disability-heart defects syndromeBrachydactyly-preaxial hallux varus syndromeBrachymorphism-onychodysplasia-dysphalangism syndromeBrachytelephalangy-dysmorphism-Kallmann syndromeLambert syndromeBranchio-oculo-facial syndromeBranchioskeletogenital syndromeAutosomal dominant popliteal pterygium syndromeBronchiectasis-oligospermia syndromeCryptogenic organizing pneumoniaBrucellosisFeingold syndromeDistal limb deficiencies-micrognathia syndromeC syndromeMedullary sponge kidneyCaffey diseaseInfantile choroidocerebral calcification syndromeSymmetrical thalamic calcificationsCAMFAK syndromeCampomelia, Cumming typeCamptobrachydactylyIdiopathic camptocormiaCamptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndromeCamptodactyly-joint contractures-facial skeletal defects syndromeCamptodactyly-taurinuria syndromeCamptodactyly syndrome, Guadalajara type 2Camptodactyly syndrome, Guadalajara type 1Camurati-Engelmann diseaseComplete atrioventricular septal defectPartial atrioventricular septal defectMedullary thyroid carcinomaFamilial pancreatic carcinomaChronic mucocutaneous candidiasisPentalogy of CantrellHyperkeratosis-hyperpigmentation syndromeHeart defect-tongue hamartoma-polysyndactyly syndromeCardiofaciocutaneous syndromeHeart-hand syndrome type 3Isolated atrial standstillCardiomyopathy-cataract-hip spine disease syndromeMitochondrial DNA-related cardiomyopathy and hearing lossHeart-hand syndrome type 2Atrioventricular defect-blepharophimosis-radial and anal defect syndromeHeart defects-limb shortening syndromeCongenital heart defect-round face-developmental delay syndromeCarey-Fineman-Ziter syndromeCarney complexCarnosinase deficiencyAutosomal recessive palmoplantar keratoderma and congenital alopeciaCataract-ataxia-deafness syndromeCongenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndromeCataract-aberrant oral frenula-growth delay syndromeCataract-hypertrichosis-intellectual disability syndromeCataract-microcornea syndromeCataract-nephropathy-encephalopathy syndromeCataract-deafness-hypogonadism syndromeCataract-intellectual disability-hypogonadism syndromePierre-Robin sequence-Manzke dysostosis-clinodactyly of the index finger syndromeCortical blindness-intellectual disability-polydactyly syndromeNight blindness-skeletal anomalies-dysmorphism syndromeCerebrocostomandibular syndromeCerebrofaciothoracic dysplasiaHydrocephaly-cerebellar agenesis syndromeIsolated cerebellar agenesisRichards-Rundle syndromeCHAND syndromeCharlie M syndromeHair defect-photosensitivity-intellectual disability syndromeWoolly hair-hypotrichosis-everted lower lip-outstanding ears syndromeUncombable hair syndromeTarsal-carpal coalition syndromeCholestasis-lymphedema syndromeHardikar syndromeFamilial calcium pyrophosphate depositionChondrodysplasia-difference of sex development syndromeLethal recessive chondrodysplasiaDesbuquois syndromeGreenberg dysplasiaAutosomal recessive otospondylomegaepiphyseal dysplasiaBenign hereditary choreaAutosomal dominant chorioretinopathy-microcephaly syndromeChoroidal atrophy-alopecia syndromeXq21 microdeletion syndromeX-linked skeletal dysplasia-intellectual disability syndromeRing chromosome 1 syndromeRing chromosome 10 syndromeRing chromosome 12 syndromeRing chromosome 14 syndromeRing chromosome 17 syndromeRing chromosome 18 syndromeRing chromosome 19 syndromeRing chromosome 20 syndromeRing chromosome 21 syndromeRing chromosome 22 syndromeRing chromosome 4 syndromeRing chromosome 6 syndromeRing chromosome 7 syndromeRing chromosome 8 syndromeCINCA syndromeCleidocranial dysplasiaCleidorhizomelic syndromeJoubert syndrome with hepatic defectMiddle aortic syndromeCoarctation of aortaCODAS syndromeCeliac disease-epilepsy-cerebral calcification syndromeIsolated complex III deficiencyCriss-cross heartUniventricular heartCoffin-Siris syndromeCOFS syndromeCogan syndromeSorsby syndromeUveal coloboma-cleft lip and palate-intellectual disabilityColobomatous-microphthalmia-heart disease-hearing loss syndromeRenal coloboma syndromeInteratrial communicationAtrial septal defect-atrioventricular conduction defects syndromeGonococcal conjunctivitisContractures-ectodermal dysplasia-cleft lip/palate syndromeArthrogryposis-hyperkeratosis syndrome, lethal formLethal congenital contracture syndrome type 1Cooks syndromeCooper-Jabs syndromeWhooping coughCorneal dystrophy-perceptive deafness syndromeVici syndromeIntellectual disability-hypoplastic corpus callosum-preauricular tag syndromeCorpus callosum agenesis-neuronopathy syndromeX-linked complicated corpus callosum dysgenesisAdrenocortical carcinomaThin ribs-tubular bones-dysmorphism syndromeAutosomal recessive Robinow syndromeCoxoauricular syndromeCoxopodopatellar syndromeCrane-Heise syndromeCraniodiaphyseal dysplasiaCraniodigital-intellectual disability syndromeCranioectodermal dysplasiaNon-syndromic bilambdoid and sagittal craniosynostosisCantú syndromeSPECC1L-related hypertelorism syndromeCraniofrontonasal dysplasiaCraniofrontonasal dysplasia-Poland anomaly syndromeCraniometaphyseal dysplasiaCraniomicromelic syndromeCranio-osteoarthropathyCraniosynostosis, Philadelphia typeCraniotelencephalic dysplasiaCraniofacial-deafness-hand syndromeGómez-López-Hernández syndromeCraniosynostosis-dysmorphism-brachydactyly syndromeCraniosynostosis-Dandy-Walker malformation-hydrocephalus syndromeJackson-Weiss syndromeCraniosynostosis, Boston typeBenign focal seizures of adolescenceCrisponi syndromeCryptococcosisCryptomicrotia-brachydactyly-excess fingertip arch syndromeCryptorchidism-arachnodactyly-intellectual disability syndromeFamilial benign copper deficiencyCurrarino syndromeCurry-Jones syndromeCutis gyrata-acanthosis nigricans-craniosynostosis syndromeCutis marmorata telangiectatica congenitaCutis verticis gyrata-intellectual disability syndromeCysticercosisFatal infantile cytochrome C oxidase deficiencyDahlberg-Borer-Newcomer syndromeDandy-Walker malformation-facial hemangioma syndromeDandy-Walker malformation-postaxial polydactyly syndromeX-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndromeDe Sanctis-Cacchione syndromeSymbrachydactyly of hands and feetKnobloch syndromeHypotrichosis with juvenile macular degenerationRetinal degeneration-nanophthalmos-glaucoma syndromePterin-4 alpha-carbinolamine dehydratase deficiencyNon-distal deletion 10q syndromeMonosomy 13q14 syndromeDistal deletion 13q syndromeDistal deletion 15q syndromeDistal deletion 17q syndromeMonosomy 18p syndromeMonosomy 18q syndrome1p36 deletion syndromeDevelopmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletionDistal deletion 3p syndrome3q13 microdeletion syndromeDeletion 5q35 syndromeDistal monosomy 7q36 syndromeDistal deletion 9p syndromeXp22.3 microdeletion syndromeChromosome Y microdeletion syndromeOculocerebrocutaneous syndromeDent diseaseDentin dysplasiaMüllerian derivatives-lymphangiectasia-polydactyly syndromeDermatitis herpetiformisDermatoosteolysis, Kirghizian typeAbsence of fingerprints-congenital milia syndromeDermatoleukodystrophyDermoodontodysplasiaX-linked corneal dermoidRestrictive dermopathySporadic fetal brain disruption sequenceDextrocardiaWolcott-Rallison syndromeChronic diarrhea with villous atrophySplit cord malformation type IDiencephalic syndromeDigitorenocerebral syndromeDihydropyrimidine dehydrogenase deficiencyIdiopathic pulmonary artery dilatationFamilial idiopathic dilatation of the right atriumDincsoy-Salih-Patel syndromeDiphtheriaDiprosopusArterial dissection-lentiginosis syndromeDistichiasis-congenital heart defects-peripheral vascular anomalies syndromeCardiac diverticulumMosaic trisomy 1 syndromeNon-distal duplication 10q syndromeMosaic trisomy 12 syndromeTrisomy 12p syndromeNon-distal duplication 13q syndromeMosaic trisomy 14 syndromeDistal duplication 14q syndromeMosaic trisomy 15 syndromeDistal duplication 15q syndromeMosaic trisomy 16 syndromeMosaic trisomy 17 syndrome17p11.2 microduplication syndromeTrisomy 18p syndromeDistal duplication 18q syndromeDistal duplication 19q syndromeMosaic trisomy 2 syndromeMosaic trisomy 20 syndrome22q11.2 duplication syndromeTrisomy 4p syndromeTrisomy 5p syndromeDistal duplication 6p syndromeMosaic trisomy 7 syndromeTrisomy 8q syndromeCaudal duplicationFibular dimelia-diplopodia syndromeThoraco-abdominal enteric duplicationProximal Xq28 duplication syndromeFamilial dysautonomiaDysequilibrium syndromeFamilial progressive vestibulocochlear dysfunctionFamilial caudal dysgenesisXY type gonadal dysgenesis-associated anomalies syndrome45,X/46,XY mixed gonadal dysgenesisSacrococcygeal dysgenesis associationDyskeratosis congenitaTemtamy syndromeFacial dysmorphism-shawl scrotum-joint laxity syndromeDysmorphism-cleft palate-loose skin syndromeThakker-Donnai syndromeDysosteosclerosisAcrofrontofacionasal dysostosisAcrofacial dysostosis, Catania typeAcrofacial dysostosis, Palagonia typeAcrofacial dysostosis, Rodríguez typeHypomandibular faciocranial dysostosisFrontofacionasal dysplasiaHumerospinal dysostosisOculomaxillofacial dysostosisAutosomal dominant spondylocostal dysostosisCraniofacial dysostosis-diaphyseal hyperplasia syndromeFamilial developmental dysphasiaKyphomelic dysplasiaGhosal hematodiaphyseal dysplasiaThoracomelic dysplasiaDyssegmental dysplasia-glaucoma syndromeEctodermal dysplasia-blindness syndromeFocal facial dermal dysplasia type IIIHidrotic ectodermal dysplasia, Christianson-Fourie typeHidrotic ectodermal dysplasia, Halal typeAutosomal dominant hypohidrotic ectodermal dysplasiaOdontomicronychial dysplasiaEctodermal dysplasia-intellectual disability-central nervous system malformation syndromeLeukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndromeEctodermal dysplasia, trichoodontoonychial typeDysplasia epiphysealis hemimelicaLowry-Wood syndromeEpiphyseal dysplasia-hearing loss-dysmorphism syndromeFrontometaphyseal dysplasiaAcromelic frontonasal dysplasiaSchimke immuno-osseous dysplasiaDe Hauwere syndromeOsteosclerotic bone dysplasiaAxial mesodermal dysplasia spectrumMesomelic dysplasia, Kantaputra typeMetaphyseal chondrodysplasia, Rosenberg typeMetaphyseal dysplasia without hypotrichosisHereditary mucoepithelial dysplasiaRenal agenesis, bilateralRenal dysplasia-megalocystis-sirenomelia syndromeMulticystic dysplastic kidneySpondyloenchondrodysplasiaSpondyloperipheral dysplasia-short ulna syndromeSkeletal dysplasia-epilepsy-short stature syndromeThanatophoric dysplasia type 1Thoracic dysplasia-hydrocephalus syndromeDyssegmental dysplasia, Silverman-Handmaker typeHereditary bullous dystrophy, macular typeProgressive cone dystrophyCone rod dystrophyJalili syndromeCongenital muscular dystrophy-infantile cataract-hypogonadism syndromeOculogastrointestinal muscular dystrophyMuscular dystrophy-white matter spongiosis syndromeTRIM32-related limb-girdle muscular dystrophy R8Melorheostosis with osteopoikilosisEbstein malformation of the tricuspid valveHypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndromeEctodermal dysplasia-sensorineural deafness syndromeEctopia lentis-chorioretinal dystrophy-myopia syndromeIsolated ectopia lentisEctrodactyly-ectodermal dysplasia without clefting syndromeEctrodactyly-cleft palate syndromeIntellectual disability-spasticity-ectrodactyly syndromeEctrodactyly-polydactyly syndromeEctrodactyly-spina bifida-cardiopathy syndromeEdinburgh malformation syndromeEEC syndromeEEM syndromeArthrochalasia Ehlers-Danlos syndromeKyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiencyDermatosparaxis Ehlers-Danlos syndromeEhrlichiosisFetal valproate spectrum disorderAminopterin/methotrexate embryofetopathyIndomethacin embryofetopathyFetal iodine syndromeCocaine embryofetopathyFetal hydantoin syndromeFetal trimethadione syndromeVitamin K antagonist embryofetopathyFetal alcohol syndromeDiethylstilbestrol syndromeFetal methylmercury syndromeFetal minoxidil syndromePhenobarbital embryopathyToluene embryopathyMethimazole embryofetopathyDiabetic embryopathyEmery-Nelson syndromeCongenital lobar emphysemaRasmussen syndromeHerpes simplex virus encephalitisFrontal encephaloceleMitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduriaEarly infantile developmental and epileptic encephalopathyEarly myoclonic encephalopathyEng-Strom syndromeShoulder and thorax deformity-congenital heart disease syndromeJuvenile absence epilepsyEpilepsy with myoclonic-atonic seizuresEarly-onset progressive encephalopathy with migrant continuous myoclonusSelf-limited epilepsy with centrotemporal spikesAmelocerebrohypohidrotic syndromeNorthern epilepsyEpilepsy-microcephaly-skeletal dysplasia syndromeSelf-limited neonatal epilepsyEpilepsy-telangiectasia syndromeEpiphyseal stippling-osteoclastic hyperplasia syndromeCongenital lethal erythrodermaSpinocerebellar ataxia type 34EsthesioneuroblastomaEvans syndromeExostoses-anetodermia-brachydactyly type E syndromeExtrasystoles-short stature-hyperpigmentation-microcephaly syndromeFlat face-microstomia-ear anomaly syndromeFacial dysmorphism-anorexia-cachexia-eye and skin anomalies syndromeFacial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndromeLethal faciocardiomelic dysplasiaFaciocardiorenal syndromeAutosomal recessive faciodigitogenital syndromeLipodystrophy due to peptidic growth factors deficiencyBilateral striopallidodentate calcinosisFanconi syndrome-ichthyosis-dysmorphism syndromeFechtner syndromeGollop-Wolfgang complexIsolated femoral agenesis/hypoplasiaFemoral-facial syndromePai syndromeBlepharo-cheilo-odontic syndromeCleft lip/palate-intestinal malrotation-cardiopathy syndromeCleft lip/palate-deafness-sacral lipoma syndromeLaryngotracheoesophageal cleftMedian cleft lip/mandibleAlar cartilages hypoplasia-coloboma-telecanthus syndromeAcrocardiofacial syndromeCleft palate-stapes fixation-oligodontia syndromeCleft palate-large ears-small head syndromeCleft palate-short stature-vertebral anomalies syndromeCleft palate-lateral synechia syndromeSternal cleftFemur-fibula-ulna complexCongenital fiber-type disproportion myopathyFibrochondrogenesisEndocardial fibroelastosisUndifferentiated pleomorphic sarcomaHereditary gingival fibromatosisGingival fibromatosis-facial dysmorphism syndromeGingival fibromatosis-hypertrichosis syndromeGingival fibromatosis-progressive deafness syndromeJuvenile hyaline fibromatosisMultiple non-ossifying fibromatosisFibrosarcomaHepatic fibrosis-renal cysts-intellectual disability syndromeIdiopathic pulmonary fibrosisLymphatic filariasisScalp-ear-nipple syndromeCongenital aortopulmonary windowPulmonary arteriovenous malformationCongenital respiratory-biliary fistulaCoronary arterial fistulaFloating-Harbor syndromeFLOTCH syndromeFlynn-Aird syndromeFoix-Chavany-Marie syndromeCole-Carpenter syndromeFraser-like syndromeFraser syndromeFreeman-Sheldon syndromeGrowth deficiency-brachydactyly-dysmorphism syndromeEssential fructosuriaBlepharophimosis-ptosis-esotropia-syndactyly-short stature syndromeFryns-Smeets-Thiry syndromeFryns syndromeFukuda-Miyanomae-Nakata syndromeProgressive non-infectious anterior vertebral fusionSplenogonadal fusion-limb defects-micrognathia syndromePosterior fusion of lumbosacral vertebrae-blepharoptosis syndromeGalloway-Mowat syndromeGamma-aminobutyric acid transaminase deficiencyGAPO syndromeGastrocutaneous syndromeEosinophilic gastroenteritisGaucher disease-ophthalmoplegia-cardiovascular calcification syndromeNarcolepsy type 1Gemignani syndromeGenitopalatocardiac syndromeGerman syndromeGeroderma osteodysplasticaCerebral gigantism-jaw cysts syndromeProminent glabella-microcephaly-hypogenitalism syndromeGlaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndromeGlaucoma-sleep apnea syndromeOptic pathway gliomaGlomerulonephritis-sparse hair-telangiectasis syndromeFanconi-Bickel syndromeGlycogen storage disease due to hepatic glycogen synthase deficiencyGMS syndromeMultinodular goiter-cystic kidney-polydactyly syndromeFocal dermal hypoplasiaGorlin-Chaudhry-Moss syndromeGrant syndromeAcromesomelic dysplasia, Grebe typeGrubben-de Cock-Borghgraef syndromeGTP cyclohydrolase I deficiencyDysmorphism-pectus carinatum-joint laxity syndromeHall-Riggs syndromeHallermann-Streiff syndromeSevere Hallermann-Streiff syndromeHallux varus-preaxial polysyndactyly syndromeCystic hamartoma of lung and kidneyCongenital hypothalamic hamartoma syndromeHip dysplasia, Beukes typeHarrod syndromeHartnup diseaseHartsfield syndromeHawkinsinuriaHEC syndromeKaposiform hemangioendotheliomaMultifocal infantile hemangioma with extracutenous involvementCavernous hemangiomas of face-supraumbilical midline raphe syndromeSacral hemangiomas-multiple congenital abnormalities syndromeSolitary fibrous tumorIsolated hemihyperplasiaAlternating hemiplegia of childhoodHemoglobin C diseaseHemoglobin E diseaseAtypical hemolytic uremic syndromeCutaneous mastocytosis-deafness-microtia syndromeHennekam syndromeAutoimmune hepatitis46,XX ovotesticular difference of sex developmentHernández-Aguirre Negrete syndromeCongenital diaphragmatic herniaDiaphragmatic defect-limb deficiency-skull defect syndromeDonnai-Barrow syndromeCraniosynostosis, Herrmann-Opitz typeLissencephaly type 1 due to doublecortin gene mutationNodular neuronal heterotopiaHirschsprung disease-type D brachydactyly syndromeHirschsprung disease-ganglioneuroblastoma syndromeMowat-Wilson syndromeHirschsprung disease-nail hypoplasia-dysmorphism syndromeHirschsprung disease-deafness-polydactyly syndromeHistidinemiaHistidinuria-renal tubular defect syndromeHoloprosencephalyHoloprosencephaly-craniosynostosis syndromeHoloprosencephaly-caudal dysgenesis syndromeHoloprosencephaly-postaxial polydactyly syndromeHolzgreve syndromeHomocarnosinosisMethylcobalamin deficiency type cblEMethylcobalamin deficiency type cblGMicrocephaly-glomerulonephritis-marfanoid habitus syndromeHunter-Carpenter-McDonald syndromeInfantile systemic hyalinosisHydranencephalyHydrocephalus-costovertebral dysplasia-Sprengel anomaly syndromeHydrocephaly-tall stature-joint laxity syndromeHydrocephalus with stenosis of the aqueduct of SylviusHydrocephalus-obesity-hypogonadism syndromeHydrocephaly-low insertion umbilicus syndromeCongenital hydrocephalusHydrocephalus-blue sclerae-nephropathy syndromeHydrolethalusDicarboxylic aminoaciduriaPrimary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvementIdiopathic hypercalciuriaPalmoplantar keratoderma-esophageal carcinoma syndromeEpidermolytic palmoplantar keratodermaFocal palmoplantar and gingival keratodermaPalmoplantar keratoderma-spastic paralysis syndromePalmoplantar keratoderma-deafness syndromeHyperlysinemiaDysplastic cortical hyperostosis, Kozlowski-Tsuruta typeAnkylosing vertebral hyperostosis with tylosisMaternal phenylketonuria syndromeHypertelorism-hypospadias-polysyndactyly syndromeHypertelorism-microtia-facial clefting syndromeMultiple pterygium-malignant hyperthermia syndromeMaternal hyperthermia-induced birth defectsCervical hypertrichosis-peripheral neuropathy syndromeHypertrichosis cubitiAcquired hypertrichosis lanuginosaHypertrichosis lanuginosa congenitaHypertryptophanemiaHypodontia-dysplasia of nails syndromeDilated cardiomyopathy-hypergonadotropic hypogonadism syndromeHypogonadotropic hypogonadism-frontoparietal alopecia syndromePrimary hypergonadotropic hypogonadism-partial alopecia syndromeHypogonadism-mitral valve prolapse-intellectual disability syndromeMale hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndromeHypogonadotropic hypogonadism-retinitis pigmentosa syndromeHypoparathyroidism-sensorineural deafness-renal disease syndromeFamilial isolated hypoparathyroidismFamilial isolated hypoparathyroidism due to agenesis of parathyroid glandMegacystis-microcolon-intestinal hypoperistalsis syndromeHypopituitarism-micropenis-cleft lip/palate syndromeHypopituitarism-microphthalmia syndromeCerebellar hypoplasia-tapetoretinal degeneration syndromeHypoplastic left heart syndromeUlna hypoplasia-intellectual disability syndromeHyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndromeThumb deformity-alopecia-pigmentation anomaly syndromeRadial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndromeFoveal hypoplasia-presenile cataract syndromePontocerebellar hypoplasia type 1Pancreatic hypoplasia-diabetes-congenital heart disease syndromeFibulo-ulnar hypoplasia-renal anomalies syndromePrimary pulmonary hypoplasiaOligomeganephroniaHypospadias-intellectual disability, Goldblatt type syndromeHypotrichosis-intellectual disability, Lopes typeICF syndromeIchthyosis-alopecia-eclabion-ectropion-intellectual disability syndromeCongenital ichthyosis-microcephalus-tetraplegia syndromeIchthyosis-oral and digital anomalies syndromeIchthyosis follicularis-alopecia-photophobia syndromeIchthyosis-hepatosplenomegaly-cerebellar degeneration syndromeIchthyosis-intellectual disability-dwarfism-renal impairment syndromeDysmorphism-short stature-deafness-difference of sex development syndromePrimary basilar invaginationFused mandibular incisorsNeuronal intranuclear inclusion diseaseMicrovillus inclusion diseaseCongenital velopharyngeal incompetenceFamilial articular hypermobility syndromeInsulin-resistance syndrome type AInsulin-resistance syndrome type BAortic arch interruptionIsolated multiple intestinal atresiaCongenital short bowel syndromeAsbestos intoxicationIsotretinoin syndromeIsotretinoin-like syndromeIVIC syndromeJacobsen syndromePachyonychia congenitaAbsence deformity of leg-cataract syndromeAutosomal recessive spondylocostal dysostosisTransient familial neonatal hyperbilirubinemiaAutosomal dominant hyper-IgE syndrome due to STAT3 deficiencyJohanson-Blizzard syndromeJohnson neuroectodermal syndromeJoubert syndrome with oculorenal defectJuberg-Hayward syndromeJung syndromeKabuki syndromeSanjad-Sakati syndromeOsteopenia-intellectual disability-sparse hair syndromeEpidermolysis bullosa simplex with anodontia/hypodontiaKallmann syndrome-heart disease syndromeKapur-Toriello syndromeKarsch-Neugebauer syndromeKasabach-Merritt phenomenonKawasaki diseaseKBG syndromeKenny-Caffey syndromeAutosomal dominant keratitisDiffuse palmoplantar keratoderma, Bothnian typeKeratosis follicularis-dwarfism-cerebral atrophy syndromeKeratosis follicularis spinulosa decalvansHaim-Munk syndromeIsolated Klippel-Feil syndromeLethal Kniest-like dysplasiaFamilial partial lipodystrophy, Dunnigan typeMuscular pseudohypertrophy-hypothyroidism syndromeKousseff syndromeKozlowski-Brown-Hardwick syndromeSchilbach-Rott syndromeKumar-Levick syndromeBronchogenic cystLacrimoauriculodentodigital syndromeGlycogen storage disease due to lactate dehydrogenase deficiencyGastroschisisLimb body wall complexLarsen-like osseous dysplasia-short stature syndromeLethal Larsen-like syndromeLaryngoceleCongenital laryngomalaciaIsolated congenital laryngeal webLaryngeal abductor paralysis-intellectual disability syndromeLaurence-Moon syndromeLaurin-Sandrow syndromeEarly-onset parkinsonism-intellectual disability syndromeLegg-Calvé-Perthes diseaseLennox-Gastaut syndromeLeukoencephalopathy-palmoplantar keratoderma syndromeLeukonychia totalisChoreoacanthocytosisLewis-Pashayan syndromeLichtenstein syndromeCongenitally short costocoracoid ligamentPyruvate dehydrogenase E3 deficiencyEncephalocraniocutaneous lipomatosisMultiple symmetric lipomatosisNasopalpebral lipoma-coloboma syndromePeripheral motor neuropathy-dysautonomia syndromeLoiasisThickened earlobes-conductive deafness syndromeLocked-in syndromeLaryngo-onycho-cutaneous syndromeLowe-Kohn-Cohen syndromeLowry-MacLean syndromeHypergonadotropic hypogonadism-cataract syndromeDislocation of the hip-dysmorphism syndromeCongenital pulmonary lymphangiectasiaLymphedema-ptosis syndromePrimary pulmonary lymphomaMacrocephaly-short stature-paraplegia syndromeMacrocephaly-spastic paraplegia-dysmorphism syndromeCongenital macroglossiaCentral bilateral macrogyriaMacrosomia-microphthalmia-cleft palate syndromeHypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndromeCzeizel-Losonci syndromeHand-foot-genital syndromePatterson-Stevenson-Fontaine syndromeIsolated split hand-split foot malformationCongenital pulmonary airway malformationMucocutaneous venous malformationsMalpuech syndromeFamilial supernumerary nipplesMandibuloacral dysplasiaMansonelliasisVan den Ende-Gupta syndromeMarden-Walker syndromeShprintzen-Goldberg syndromeMarfanoid habitus-autosomal recessive intellectual disability syndromeMarfanoid syndrome, De Silva typeMASA syndromeMatthew-Wood syndromeMcDonough syndromeMcKusick-Kaufman syndromeWhite forelock with malformationsDysraphism-cleft lip/palate-limb reduction defects syndromeIsolated megalencephalyMegalencephalic leukoencephalopathy with subcortical cystsMegalocornea-intellectual disability syndromeNeurocutaneous melanocytosisMelhem-Fahl syndromeMelkersson-Rosenthal syndromeMelnick-Needles syndromeMelorheostosisTransverse limb deficiency-hemangioma syndromeLower limb malformation-hypospadias syndromeUpper limb defect-eye and ear abnormalities syndromeMüllerian duct anomalies-limb anomalies syndromeFATCO syndromeMénétrier diseaseMeningiomaMesomelia-synostoses syndromeUpper limb mesomelic dysplasia, type FrynsSyndactyly type 8MetachondromatosisAcrogeriaMetaphyseal chondrodysplasia, Spahr typeMetaphyseal dysostosis-intellectual disability-conductive deafness syndromeMetaphyseal dysplasia-maxillary hypoplasia-brachydacty syndromeMultiple benign circumferential skin creases on limbsMichels syndromeCorpus callosum agenesis-abnormal genitalia syndromeMicro syndromeMicrobrachycephaly-ptosis-cleft lip syndromeAutosomal recessive primary microcephalyMicrocephaly-albinism-digital anomalies syndromeAutosomal dominant primary microcephalyMicrocephaly-cardiomyopathy syndromeMicrocephaly-cardiac defect-lung malsegmentation syndromeAutosomal recessive chorioretinopathy-microcephaly syndromeMicrocephaly-seizures-intellectual disability-heart disease syndromeMicrocephaly-cleft palate-abnormal retinal pigmentation syndromeMicrocephaly-cervical spine fusion anomalies syndromeMicrocephaly-brain defect-spasticity-hypernatremia syndromePontocerebellar hypoplasia type 2Microcephaly-chorioretinopathy-lymphedema syndromeMicrocephaly-microcornea syndrome, Seemanova typeMicrocephaly-deafness-intellectual disability syndromeMicrocornea-glaucoma-absent frontal sinuses syndromeMicrogastria-limb reduction defect syndromeMicrophthalmia-microtia-fetal akinesia syndromeOculoauriculovertebral spectrum with radial defectsMicrospherophakia-metaphyseal dysplasia syndromeMicrosporidiosisEar-patella-short stature syndromeMicrophthalmia with linear skin defects syndromeMietens syndromeMikati-Najjar-Sahli syndromeMoebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndromePyramidal molars-abnormal upper lip syndromeMOMO syndromeTetramelic monodactylyMononen-Karnes-Senac syndromeChronic Epstein-Barr virus infection syndromeMoore-Federman syndromeLethal intrauterine growth restriction-cortical malformation-congenital contractures syndromeWoods-Black-Norbury syndromeSpastic ataxia-corneal dystrophy syndromeMoyamoya diseaseMoynahan syndromeCystic fibrosis-gastritis-megaloblastic anemia syndromeMulibrey nanismMayer-Rokitansky-Küster-Hauser syndrome type 2Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndromeMyalgia-eosinophilia syndrome associated with tryptophanMycetomaClassic mycosis fungoidesAtaxia-pancytopenia syndromeMyeloperoxidase deficiencyMyhre syndromeMyoclonus-cerebellar ataxia-deafness syndromeSpinal muscular atrophy-progressive myoclonic epilepsy syndromeInfantile myofibromatosisTubular aggregate myopathyMyopathy and diabetes mellitusMitochondrial myopathy-lactic acidosis-deafness syndromeMitochondrial myopathy and sideroblastic anemiaFamilial visceral myopathyN syndromeIsolated complex I deficiencyLinear verrucous nevus syndromeLinear nevus sebaceus syndromeNail-patella-like renal diseaseNail-patella syndromeNakajo-Nishimura syndrome3M syndromeMicrocephalic primordial dwarfism, Montreal typeBrachydactylous dwarfism, Mseleni typeGeleophysic dysplasiaMesomelic dwarfism-cleft palate-camptodactyly syndromeLanger mesomelic dysplasiaMesomelic dysplasia, Nievergelt typeMesomelic dwarfism, Reinhardt-Pfeiffer typeMetatropic dysplasiaMicrocephalic osteodysplastic primordial dwarfism types I and IIIMicrocephalic osteodysplastic primordial dwarfism type IIFibular aplasia-complex brachydactyly syndromeLethal short-limb dwarfism, McAlister-Crane typeMicrocephalic primordial dwarfism, Toriello typeOsteoglosphonic dysplasiaParastremmatic dysplasiaShort stature-intellectual disability-eye anomalies-cleft lip/palate syndromeSyndesmodysplasic dwarfismThanatophoric dysplasiaLenz-Majewski hyperostotic dysplasiaDwarfism-tall vertebrae syndromeKeipert syndromeNathalie syndromeCongenital mesoblastic nephromaAdult familial nephronophthisis-spastic quadriparesia syndromeNephropathy-deafness-hyperparathyroidism syndromeNephrosis-deafness-urinary tract-digital malformations syndromePierson syndromeNeu-Laxova syndromeNeuhauser-Eichner-Opitz syndromeNeurofaciodigitorenal syndromeCyprus facial-neuromusculoskeletal syndromeNeuroectodermal-endocrine syndromeFamilial isolated café-au-lait maculesHypomyelination neuropathy-arthrogryposis syndromeCyclic neutropeniaNeutropenia-hyperlymphocytosis with large granular lymphocytes syndromeAdult idiopathic neutropeniaIntermittent neutropeniaNeutropenia-monocytopenia-deafness syndromeNevo syndromeBifid noseArthrogryposis-renal dysfunction-cholestasis syndromeKnuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndromeMedian nodule of the upper lipNomaNoonan syndrome-like disorder with loose anagen hairPort-wine nevi-mega cisterna magna-hydrocephalus syndromeUrofacial syndromeOculocerebrofacial syndrome, Kaufman typeOculodental syndrome, Rutherfurd typeOculodentodigital dysplasiaOculofaciocardiodental syndromeOculoosteocutaneous syndromeOculo-palato-cerebral syndromeSevere oculo-renal-cerebellar syndromeOculotrichoanal syndromeOculotrichodysplasiaOculocerebral hypopigmentation syndrome, Cross typeOculocerebral hypopigmentation syndrome, Preus typeOdonto-onycho-dermal dysplasiaOdonto-onycho dysplasia-alopecia syndromeOdontotrichomelic syndromeOdontomatosis-aortae esophagus stenosis syndromeEye defects-arachnodactyly-cardiopathy syndromeBlepharophimosis-intellectual disability syndrome, Ohdo typeOkamoto syndromePostaxial tetramelic oligodactylyTaurodontia-absent teeth-sparse hair syndromeOlivopontocerebellar atrophy-deafness syndromeOmodysplasiaLethal omphalocele-cleft palate syndromeOnchocerciasisOnycho-tricho-dysplasia-neutropenia syndromeOphthalmomandibulomelic dysplasiaOphthalmoplegia-intellectual disability-lingua scrotalis syndromeHorizontal gaze palsy with progressive scoliosisOpitz GBBB syndromeOpsismodysplasiaOrofaciodigital syndrome type 1Orofaciodigital syndrome type 2Orofaciodigital syndrome type 3Orofaciodigital syndrome type 4Orofaciodigital syndrome type 6Orofaciodigital syndrome type 8Imperforate oropharynx-costovertebral anomalies syndromeOSLAM syndromeProgressive osseous heteroplasiaOsteocraniostenosisOsteochondritis dissecansCarpotarsal osteochondromatosisBlount diseaseFamilial osteodysplasia, Anderson typeNasu-Hakola diseaseBruck syndromeCongenital osteogenesis imperfecta-microcephaly-cataracts syndromeOsteogenesis imperfecta-retinopathy-seizures-intellectual disability syndromeMulticentric carpo-tarsal osteolysis with or without nephropathyAutosomal recessive carpotarsal osteolysisAutosomal recessive distal osteolysis syndromeOsteomesopyknosisOsteopathia striata-pigmentary dermopathy-white forelock syndromeOsteopathia striata-cranial sclerosis syndromeAutosomal dominant osteopetrosis type 1Osteopetrosis with renal tubular acidosisOsteoporosis-oculocutaneous hypopigmentation syndromeOsteoporosis-pseudoglioma syndromeLateral meningocele syndromeEndosteal hyperostosis, Worth typeOtodental syndromeOtofaciocervical syndromeOtoonychoperoneal syndromeFowler urethral sphincter dysfunction syndromePachydermoperiostosisPachygyria-intellectual disability-epilepsy syndromeExtramammary Paget diseaseJuvenile Paget diseaseX-linked sideroblastic anemia and spinocerebellar ataxiaW syndromePartial pancreatic agenesisSubacute sclerosing leukoencephalitisPapilloma of choroid plexusLaryngeal abductor paralysisFamilial recurrent peripheral facial palsyParana hard skin syndromeSpastic paraparesis-deafness syndromeSpastic paraplegia-epilepsy-intellectual disability syndromeSpastic paraplegia-glaucoma-intellectual disability syndromeSpastic paraplegia-facial-cutaneous lesions syndromeSpastic paraplegia-nephritis-deafness syndromeSpastic paraplegia-neuropathy-poikiloderma syndromeAutosomal recessive spastic paraplegia type 11Paraplegia-intellectual disability-hyperkeratosis syndromePARC syndromeSpastic paraplegia-precocious puberty syndromeYoung-onset Parkinson diseasePartington-Anderson syndromeRhizomelic dysplasia, Patterson-Lowry typeShort tarsus-absence of lower eyelashes syndromeStiff skin syndromeWrinkly skin syndromePectus excavatum-macrocephaly-dysplastic nails syndromePEHO syndromePellagra-like skin rash-neurological manifestations syndromeRenal caliceal diverticuli-deafness syndromePelvis-shoulder dysplasiaPelvic dysplasia-arthrogryposis of lower limbs syndromeHailey-Hailey diseasePenoscrotal transpositionPentosuriaPericardial and diaphragmatic defectCamptodactyly-arthropathy-coxa-vara-pericarditis syndromePerlman syndromeAlopecia-intellectual disability syndromeSerpentine fibula-polycystic kidneys syndromeFuhrmann syndromePerrault syndromePersistent Müllerian duct syndromeShort stature-wormian bones-dextrocardia syndromeShort stature-webbed neck-heart disease syndromeShort stature-deafness-neutrophil dysfunction-dysmorphism syndromeShort stature, Brussels typeShort stature-valvular heart disease-characteristic facies syndromePeutz-Jeghers syndromePfeiffer-Palm-Teller syndromeCardiocranial syndrome, Pfeiffer typePhakomatosis pigmentokeratoticaPhakomatosis pigmentovascularisPHAVER syndromePhocomelia, Schinzel typePhosphoenolpyruvate carboxykinase deficiencyCutaneous photosensitivity-lethal colitis syndromeSitosterolemiaPiebaldismPiebald trait-neurologic defects syndromeTARP syndromePierre Robin syndrome-faciodigital anomaly syndromePili tortiPili torti-onychodysplasia syndromePili torti-developmental delay-neurological abnormalities syndromePilodental dysplasia-refractive errors syndromePinsky-Di George-Harley syndromePitt-Hopkins syndromePityriasis rubra pilarisX-linked intellectual disability-plagiocephaly syndromeBrachyolmia-amelogenesis imperfecta syndromeLeri pleonosteosisNeuralgic amyotrophyIdiopathic chronic eosinophilic pneumoniaFamilial spontaneous pneumothoraxPOEMS syndromeHereditary acrokeratotic poikilodermaKindler epidermolysis bullosaRothmund-Thomson syndromePoland syndromePoliomyelitisPostaxial polydactyly-dental and vertebral anomalies syndromePolydactyly-myopia syndromeOrofaciodigital syndrome type 5Oliver syndromePreaxial polydactyly-colobomata-intellectual disability syndromeIsolated polycystic liver diseaseDigital extensor muscle aplasia-polyneuropathyPolyneuropathy-intellectual disability-acromicria-premature menopause syndromeJuvenile polyposis syndromeCronkhite-Canada syndromeChronic inflammatory demyelinating polyneuropathyPolysyndactyly-cardiac malformation syndromeCrossed polysyndactylyPorencephalyPorencephaly-cerebellar hypoplasia-internal malformations syndromePostpoliomyelitis syndromeBrachydactyly-long thumb syndromeTriphalangeal thumbs-brachyectrodactyly syndromeTriphalangeal thumb-polysyndactyly syndromeAbsent thumb-short stature-immunodeficiency syndromeAdducted thumbs-arthrogryposis syndrome, Christian typeMusculocontractural Ehlers-Danlos syndromeAcrodysplasia scoliosisGuttmacher syndromeX-linked intellectual disability-dysmorphism-cerebral atrophy syndromeProgeria-short stature-pigmented nevi syndromeDe Barsy syndromeProgeroid syndrome, Petty typeAutosomal dominant prognathismProlactinomaProperdin deficiencyHaptocorrin deficiencyLeukocyte adhesion deficiencyProteus-like syndromePrune belly syndromePeroxisomal acyl-CoA oxidase deficiencyNon-eruption of teeth-maxillary hypoplasia-genu valgum syndrome46,XX difference of sex development-anorectal anomalies syndrome46,XX difference of sex development-skeletal anomalies syndromePseudoleprechaunism syndrome, Patterson typeChronic intestinal pseudoobstruction syndromeAcrootoocular syndromePseudo-Zellweger syndromeDifference of sex development-intellectual disability syndromePseudoprogeria syndromeAntecubital pterygium syndromePterygium colli-intellectual disability-digital anomalies syndromeFamilial pterygium of the conjunctivaAutosomal recessive multiple pterygium syndromeShort stature-craniofacial anomalies-genital hypoplasia syndromeBaraitser-Winter cerebrofrontofacial syndromePtosis-vocal cord paralysis syndromeCarnevale syndromePtosis-strabismus-ectopic pupils syndromeFamilial peripheral male-limited precocious pubertyImmune thrombocytopeniaPyknoachondrogenesisMirror polydactyly-vertebral segmentation-limbs defects syndromePyle diseasePyridoxine-dependent-developmental and epileptic encephalopathyPyruvate carboxylase deficiencyQazi-Markouizos syndromeSpastic tetraplegia-retinitis pigmentosa-intellectual disability syndromeRadiculomegaly of canine teeth- congenital cataractRadio-renal syndromeAbsent radius-anogenital anomalies syndromeRetinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndromeRamon syndromeRamsay Hunt syndromeRAPADILINO syndromeRapp-Hodgkin syndromeExternal auditory canal atresia-vertical talus-hypertelorism syndromeRadial ray hypoplasia-choanal atresia syndromeCaudal regression syndromeNPHP3-related Meckel-like syndromeRenal tubular dysgenesisDelayed membranous cranial ossificationGrowth delay-hydrocephaly-lung hypoplasia syndromeDelayed speech-facial asymmetry-strabismus-ear lobe creases syndromeIntellectual disability-balding-patella luxation-acromicria syndromeIntellectual disability-cataracts-calcified pinnae-myopathy syndromeIntellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndromeBlepharophimosis-intellectual disability syndrome, SBBYS typeNicolaides-Baraitser syndromeX-linked intellectual disability-seizures-psoriasis syndromeX-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndromeX-linked intellectual disability, Brooks typeMonoamine oxidase A deficiencyX-linked intellectual disability, Gu typeX-linked intellectual disability, Snyder typeX-linked intellectual disability-monoamine oxidase A metabolism anomaly syndromeIntellectual disability-myopathy-short stature-endocrine defect syndromeCostello syndromeIntellectual disability-short stature-hypertelorism syndromeX-linked intellectual disability-psychosis-macroorchidism syndromeSevere X-linked intellectual disability, Gustavson typeIntellectual disability, Buenos-Aires typeIntellectual disability, Wolff typeIntellectual disability-polydactyly-uncombable hair syndromeMirhosseini-Holmes-Walton syndromeRetinitis pigmentosa-intellectual disability-deafness-hypogonadism syndromeAutosomal dominant vitreoretinochoroidopathyRetinohepatoendocrinologic syndromeRevesz syndromeFixed subaortic stenosisCongenital aortic valve stenosisAtypical Rett syndromeReye syndromeMeacham syndromeRhizomelic syndrome, Urbach typeRheumatic feverRichieri Costa-da Silva syndromeRichieri Costa-Pereira syndromeRoberts syndromeRobin sequence-oligodactyly syndromeRobinow-like syndromeRobinow-Sorauf syndromeAutosomal dominant Robinow syndromeMayer-Rokitansky-Küster-Hauser syndromeRombo syndromeRotor syndromePatella aplasia-coxa vara-tarsal synostosis syndromeRoussy-Lévy syndromeRudiger syndromeRuvalcaba syndromeBrittle hair syndrome, Sabinas typeSaccharopinuriaSarcosinemiaSatoyoshi syndromeSay-Barber-Miller syndromeSCARF syndromeAlpha-N-acetylgalactosaminidase deficiencyUlnar-mammary syndromeAutoimmune polyendocrinopathy type 2Schneckenbecken dysplasiaArginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndromeMalignant peripheral nerve sheath tumorMultiple sclerosis-ichthyosis-factor VIII deficiency syndromeSclerosteosisSenior-Loken syndromeSepto-optic dysplasia spectrumCongenital pulmonary sequestrationSézary syndromeSHORT syndromeOmphalocele syndrome, Shprintzen-Goldberg typeEosinophilic fasciitisSialuriaSiegler-Brewer-Carey syndromeSillence syndromeSirenomeliaEyebrow duplication-syndactyly syndromeInfantile spasms-broad thumbs syndromeX-linked spasticity-intellectual disability-epilepsy syndromeSpina bifida-hypospadias syndromeSpinocerebellar degeneration-corneal dystrophy syndromeSpondylocamptodactyly syndromeSprengel deformitySteatocystoma multiplex-natal teeth syndromeHoloprosencephaly-radial heart renal anomalies syndromeCongenital pulmonary valvar stenosisSubpulmonary stenosisSubaortic stenosis-short stature syndromeSupravalvular pulmonary stenosisSupravalvular aortic stenosisCorneodermatoosseous syndromeSternal malformation-vascular dysplasia syndromeSteroid dehydrogenase deficiency-dental anomalies syndromeHereditary hyperekplexiaStiff person spectrum disorderStimmler syndromeArthrogryposis-ectodermal dysplasia syndromeVentricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndromeDehydrated hereditary stomatocytosisOverhydrated hereditary stomatocytosisStormorken-Sjaastad-Langslet syndromeSturge-Weber syndromeStüve-Wiedemann syndromeWhite matter hypoplasia-corpus callosum agenesis-intellectual disability syndromeIsolated succinate-CoQ reductase deficiencySummitt syndromeAutosomal dominant optic atrophy and congenital deafnessDeafness-opticoacoustic nerve atrophy-dementia syndromeDeaf blind hypopigmentation syndrome, Yemenite typeConductive deafness-malformed external ear syndromeDeafness-small bowel diverticulosis-neuropathy syndromeDeafness-epiphyseal dysplasia-short stature syndromeFountain syndromeDeafness-enamel hypoplasia-nail defects syndromeGeneralized resistance to thyroid hormonePhosphoribosylpyrophosphate synthetase superactivityDeafness-genital anomalies-metacarpal and metatarsal synostosis syndromeHearing loss-familial salivary gland insensitivity to aldosterone syndromeDeafness-lymphedema-leukemia syndromeDeafness-oligodontia syndromeDeafness-ear malformation-facial palsy syndromeCochleosaccular degeneration-cataract syndromeProgressive deafness with stapes fixationConductive deafness-ptosis-skeletal anomalies syndromeMultiple synostoses syndromeCardiospondylocarpofacial syndromeDeafness-vitiligo-achalasia syndromeEarly-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndromeDeafness-craniofacial syndromeRenpenning syndromeSweet syndromeSymphalangism with multiple anomalies of hands and feetIsolated distal symphalangismProximal symphalangismCleft lip/palate-ectodermal dysplasia syndromeFilippi syndromeCenani-Lenz syndromeSyndactyly-polydactyly-ear lobe syndromeIdiopathic hypereosinophilic syndromeAutoimmune lymphoproliferative syndromeDobrow syndromeSyngnathia-cleft palate syndromeIsolated humero-radial synostosisIsolated humero-radio-ulnar synostosisRadioulnar synostosis-microcephaly-scoliosis syndromeIsolated radio-ulnar synostosisRadioulnar synostosis-developmental delay-hypotonia syndromeRadio-ulnar synostosis-retinal pigment abnormalities syndromeSynovial sarcomaGranulomatous arthritis of childhoodSpondylocarpotarsal synostosisMultifocal atrial tachycardiaHis bundle tachycardiaCatecholaminergic polymorphic ventricular tachycardiaTakayasu arteritisTeebi-Shaltout syndromeTel Hashomer camptodactyly syndromeTelecanthus-hypertelorism-strabismus-pes cavus syndromeExtensor tendons of finger anomaliesTetanusTetraamelia-multiple malformations syndromeTetralogy of FallotFallot complex-intellectual disability-growth delay syndromeTetraploidy syndromeInverted duplicated chromosome 15 syndromeTetrasomy 18p syndromeTetrasomy 5p syndromeTetrasomy 9p syndromeThalidomide embryopathyThiemann disease, familial formThomas syndromeThoracolaryngopelvic dysplasiaEssential thrombocythemiaCongenital amegakaryocytic thrombocytopeniaThrombocytopenia-absent radius syndromeHoyeraal-Hreidarsson syndromeBraddock-Carey syndromeFamilial thrombomodulin anomaliesClassic heparin-induced thrombocytopeniaThymic-renal-anal-lung dysplasiaThyrocerebrorenal syndromeAbsent tibia-polydactyly-arachnoid cyst syndromeTibial aplasia-ectrodactyly syndromeHypoplastic tibiae-postaxial polydactyly syndromeConnective tissue dysplasia, Spellacy typeTomÚ-Brunet-Fardeau syndromePrimary Fanconi renotubular syndromeToriello-Carey syndromeOculoectodermal syndromeTorticollis-keloids-cryptorchidism-renal dysplasia syndromeArterial tortuosity syndromeToxocariasisWeismann-Netter syndromeTracheal agenesisMounier-Kühn syndromeTracheobronchopathia osteochondroplasticaTreft-Sanborn-Carey syndromeTremor-nystagmus-duodenal ulcer syndromeTrichodental syndromeTricho-dento-osseous syndromeTrichodermodysplasia-dental alterations syndromeTrichoodontoonychial dysplasiaTrichodysplasia-xeroderma syndromeTrichomegaly-retina pigmentary degeneration-dwarfism syndromeTrigonocephaly-broad thumbs syndromeNon-syndromic metopic craniosynostosisTrigonocephaly-bifid nose-acral anomalies syndromeTrigonocephaly-short stature-developmental delay syndromeUnilateral ocular duplicationTrisomy X syndromeTriploidy syndromeTrismus-pseudocamptodactyly syndromeTrisomy 13 syndromeDistal duplication 17q syndromeTrisomy 18 syndromeHumerus trochlea hypoplasiaCommon arterial trunkAfrican trypanosomiasisAmerican trypanosomiasisIsolated anterior cervical hypertrichosisTuberculosisProximal tubulopathy-diabetes mellitus-cerebellar ataxia syndromeOdonto-onycho-hypohidrotic dysplasia-midline scalp defects syndromeTularemiaAorto-ventricular tunnelTransient tyrosinemia of the newbornUhl anomalyUlbright-Hodes syndromeUmbilical cord ulceration-intestinal atresia syndromeUlerythema ophryogenesisUpington diseaseUrban-Rogers-Meyer syndromeDouble uterus-hemivagina-renal agenesis syndromeVACTERL with hydrocephalusHyperostosis corticalis generalisataCerebroretinal vasculopathyVasquez-Hurst-Sotos syndromeVelo-facial-skeletal syndromeDouble outlet right ventricleDouble outlet left ventricleVerloove Vanhorick-Brubakk syndromeMicrocephaly-brachydactyly-kyphoscoliosis syndromeMMEP syndromeVogt-Koyanagi-Harada diseaseBiliary tract malformation-renal failure syndromeVon Voss-Cherstvoy syndromeWaardenburg syndromeWatson syndromeWeaver-like syndromeWeaver syndromeWeaver-Williams syndromeWeill-Marchesani syndromeWeissenbacher-Zweymuller syndromeWest syndromeWhipple diseaseAutoimmune polyendocrinopathy type 1Wieacker-Wolff syndromeWiedemann-Rautenstrauch syndromeWildervanck syndromeWilson-Turner syndromeTorg-Winchester syndromeWolfram syndromeWoodhouse-Sakati syndromeWorster-Drought syndromeWT limb-blood syndromeHereditary xanthinuriaXK aprosencephaly syndromeYoung syndromeYunis-Varon syndromeZimmermann-Laband syndromeCHIME syndromeX-linked myopathy with excessive autophagyHereditary diffuse gastric cancerJuvenile temporal arteritisAcquired prothrombin deficiencyProtein S acquired deficiencyPseudomyxoma peritoneiMultiple acyl-CoA dehydrogenase deficiencyShort chain acyl-CoA dehydrogenase deficiencyVery long chain acyl-CoA dehydrogenase deficiencyTyrosinemia type 2Hereditary pheochromocytoma-paragangliomaMultiple myelomaReactive arthritisSpontaneous periodic hypothermiaIsolated biliary atresiaPrimary hypomagnesemia with secondary hypocalcemiaHereditary arginine vasopressin deficiencyPrimary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvementDermatofibrosarcoma protuberansTangier diseaseMelioidosisNocardiosisRat-bite feverInfantile convulsions and choreoathetosisHypersensitivity pneumonitisColchicine poisoningMethanol poisoningEthylene glycol poisoningParaquat poisoningDigitalis poisoningPulmonary venoocclusive diseaseTumor necrosis factor receptor 1 associated periodic syndromeLymphedema-distichiasis syndromeMetaphyseal chondrodysplasia, Jansen typeDravet syndromeLethal multiple pterygium syndromeAutosomal non-syndromic agammaglobulinemiaGranulomatous slack skinIdiopathic hypersomniaWaldenström macroglobulinemiaKaposi sarcomaJessner lymphocytic infiltration of the skinReticular dysgenesisTrichothiodystrophyPediatric hepatocellular carcinomaBullous lichen planusNeuroectodermal melanolysosomal diseaseMeningococcal meningitisKleine-Levin syndrome5-oxoprolinase deficiencyGamma-glutamyl transpeptidase deficiencyGlutamate-cysteine ligase deficiencyNodular non-suppurative panniculitisImmunoglobulin A nephropathyAutosomal dominant tubulointerstitial kidney diseaseNaxos diseaseTelethonin-related limb-girdle muscular dystrophy R7FKRP-related limb-girdle muscular dystrophy R9DNAJB6-related limb-girdle muscular dystrophy D1Autosomal dominant limb-girdle muscular dystrophy type 1ECongenital muscular dystrophy with integrin alpha-7 deficiencyDistal myopathy with early respiratory muscle involvementAutosomal dominant primary hypomagnesemia with hypocalciuriaDanon diseaseImmunodeficiency by defective expression of MHC class ISevere disseminated cytomegalovirus infection in immunocompetent patientsFulminant viral hepatitisPLA2G6-related neurodegeneration, infantile-onsetT-B+NK- severe combined immunodeficiency due to JAK3 deficiencyNon-syndromic sagittal craniosynostosisNon-syndromic bicoronal craniosynostosisDesmosterolosisHemolytic anemia due to pyrimidine 5' nucleotidase deficiencyLysosomal acid phosphatase deficiencyCongenital sucrase-isomaltase deficiencyEpidermal nevus syndromeX-linked dominant chondrodysplasia punctataIsolated complete colobomatous microphthalmiaALDH18A1-related De Barsy syndromeSerpiginous choroiditisErdheim-Chester diseasePrimary lateral sclerosis3-hydroxy-3-methylglutaryl-CoA synthase deficiencyL-Arginine:glycine amidinotransferase deficiencyGlutaric acidemia type 3Aromatic L-amino acid decarboxylase deficiencyGlucose-galactose malabsorptionMorning glory disc anomalyImerslund-Gräsbeck syndromeHyperinsulinism-hyperammonemia syndromeAcute opioid intoxicationCombined deficiency of factor V and factor VIIIBacterial toxic-shock syndromeStaphylococcal scarlet feverStaphylococcal scalded skin syndromeBullous impetigoStaphylococcal necrotizing pneumoniaBuerger diseaseGastric linitis plasticaBleeding disorder due to P2Y12 defectDistal deletion 1q syndromeCOL4A1/2-related familial vascular leukoencephalopathyHereditary sensory and autonomic neuropathy type 1Genetic epilepsy with febrile seizure plusAdiposis dolorosaHypocomplementemic urticarial vasculitisStevens-Johnson syndromeMyoclonus-dystonia syndromeAutoimmune hypoparathyroidismImmune dysregulation-polyendocrinopathy-enteropathy-X-linked syndromeInterstitial cystitisAndersen-Tawil syndromeAcquired kinky hair syndromeEpisodic ataxia type 1Neonatal neutropeniaSchnitzler syndromeDihydropyrimidinuriaOmenn syndromeGraft versus host diseaseAcitretin/etretinate embryopathyEales diseaseBietti crystalline dystrophyIminoglycinuriaPFAPA syndromeTietz syndromePHACE syndromeHereditary myopathy with lactic acidosis due to ISCU deficiencySerotonin syndromeAcute tricyclic antidepressant poisoningAcute poisoning by drugs with membrane-stabilizing effectLambert-Eaton myasthenic syndromeGastrointestinal stromal tumorCongenital fibrosis of extraocular musclesMiyoshi myopathyIdiopathic neonatal atrial flutterIncessant infant ventricular tachycardiaLathosterolosisPrimary central nervous system lymphomaParoxysmal extreme pain disorderMucous membrane pemphigoidEpidermolysis bullosa acquisitaLinear IgA dermatosisHereditary persistence of fetal hemoglobin-beta-thalassemia syndromeChar syndromePrimordial short stature-microdontia-opalescent and rootless teeth syndromeBrain arteriovenous malformation, nidus typeHereditary papillary renal cell carcinomaFamilial cold urticariaProximal renal tubular acidosisFelty syndromePyoderma gangrenosumLewis-Sumner syndromeNodular regenerative hyperplasia of the liverSubcorneal pustular dermatosisCongenital cataracts-facial dysmorphism-neuropathy syndromePostinfectious vasculitisPhelan-McDermid syndromePrimary effusion lymphomaEmbryonal carcinoma of the central nervous systemAceruloplasminemiaFocal myositisIgG4-related retroperitoneal fibrosisDentinogenesis imperfectaAchromatopsiaAcquired purpura fulminansLichen amyloidosisThiamine-responsive megaloblastic anemia syndromePleural mesotheliomaTalo-patello-scaphoid osteolysisMicrolissencephaly-micromelia syndromeLipodystrophy-intellectual disability-deafness syndromeZellweger-like syndrome without peroxisomal anomaliesCraniolenticulosutural dysplasiaBranchiogenic deafness syndromeSpondylometaphyseal dysplasia with combined immunodeficiencyDuane anomaly-myopathy-scoliosis syndromeCat-scratch diseaseKikuchi-Fujimoto diseaseStriate palmoplantar keratodermaKeratolytic winter erythemaSchöpf-Schulz-Passarge syndromeBlomstrand lethal chondrodysplasiaCongenital short QT syndromeTorsade-de-pointes syndrome with short coupling intervalEthylmalonic encephalopathyFormiminoglutamic aciduriaGeneralized arterial calcification of infancyWHIM syndromeAnterior cutaneous nerve entrapment syndromePotocki-Shaffer syndromeBraddock syndromeCraniosynostosis-intracranial calcifications syndromeCorpus callosum agenesis-intellectual disability-coloboma-micrognathia syndromeUlnar/fibula ray defect-brachydactyly syndromePremature chromosome condensation with microcephaly and intellectual disabilityMohr-Tranebjaerg syndromeMantle cell lymphomaMALT lymphomaRetinitis punctata albescensCongenital muscular dystrophy type 1CBranchiootic syndromeInclusion body myopathy with Paget disease of bone and frontotemporal dementiaX-linked creatine transporter deficiencyPseudo-von Willebrand diseaseIsolated follicle stimulating hormone deficiencyOrbital leiomyomaCaroli diseaseMuenke syndromeFamilial cutaneous collagenomaBrody myopathyX-linked dystonia-parkinsonismHereditary geniospasmGoldmann-Favre syndromeParoxysmal dystonic choreathetosis with episodic ataxia and spasticityCongenital chloride diarrheaCongenital lactase deficiencyCongenital cornea planaGRACILE syndromeArthrogryposis-anterior horn cell disease syndromeGnathodiaphyseal dysplasiaMyosin storage myopathyFamilial tumoral calcinosisSpinal arteriovenous metameric syndromePlummer-Vinson syndromeThrombotic thrombocytopenic purpuraMyotonic dystrophy type 3Posterior cortical atrophyAseptic abscess syndromeLeft ventricular noncompactionHepatocellular adenomaSarcocystosisPrimary membranoproliferative glomerulonephritisCraniopharyngiomaTNP03-related limb-girdle muscular dystrophy D2HNRNPDL-related limb-girdle muscular dystrophy D3Hypotrichosis simplexPneumococcal meningitisChondrosarcomaAdamantinomaAtelosteogenesis type IIAtelosteogenesis type IIICold agglutinin diseaseProgressive bulbar paralysis of childhoodSUNCT syndromeMedial condensing osteitis of the clavicleMazabraud syndromeClassic hairy cell leukemiaOsteoblastomaLaing distal myopathySorsby fundus dystrophySchilder diseaseNeonatal ichthyosis-sclerosing cholangitis syndromeMcLeod neuroacanthocytosis syndromeIsolated rhombencephalosynapsisArgyriaEnlarged parietal foraminaPulmonary alveolar microlithiasisPulmonary nodular lymphoid hyperplasiaLoeys-Dietz syndromeRecurrent respiratory papillomatosisIdiopathic bronchiectasisPudendal nerve entrapment syndromeMegalencephaly-capillary malformation-polymicrogyria syndromeCongenital heart blockIniencephalyCraniorachischisisHERNS syndromeAntley-Bixler syndrome with genital anomaly and disorder of steroidogenesisFLNC-related handgrip and calf weakness-distal myopathyPemphigoid gestationisAngel-shaped phalango-epiphyseal dysplasiaAcrocapitofemoral dysplasiaParaneoplastic pemphigusSchisis associationIgG4-related mediastinitisChildhood absence epilepsyAcrofacial dysostosis, Kennedy-Teebi typeBenign idiopathic neonatal seizuresTolosa-Hunt syndromeBartonella bacilliformis infectionTrench feverLeiomyosarcomaGranulomatous mastitisIridocorneal endothelial syndromeOvarian hyperstimulation syndromePulmonary blastomaPleuropulmonary blastomaHepatoportal sclerosisIgG4-related thyroid diseasePruritic urticarial papules and plaques of pregnancyDejerine-Sottas syndromeHereditary motor and sensory neuropathy type 5Hereditary sensory and autonomic neuropathy type 5Spinocerebellar ataxia with axonal neuropathy type 2Nevus comedonicus syndromeBecker nevus syndromeCarvajal syndromeTimothy syndromeBiotin-thiamine-responsive basal ganglia diseaseLhermitte-Duclos disease3q29 microdeletion syndromeBeta-ureidopropionase deficiencyPermanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndromeVaginal atresiaBenign recurrent intrahepatic cholestasisIsolated focal cortical dysplasiaMonomelic amyotrophyArthrogryposis-severe scoliosis syndromeAutosomal dominant multiple pterygium syndromeMultiple self-healing squamous epitheliomaCarpenter syndromeGoodman syndromeShort fifth metacarpals-insulin resistance syndromeTako-Tsubo cardiomyopathyPANDASCerebrooculonasal syndromeTenosynovial giant cell tumorObesity due to congenital leptin deficiencyGoldberg-Shprintzen megacolon syndromeCongenital pseudoarthrosis of the clavicleCEDNIK syndromeSensorineural hearing loss-early graying-essential tremor syndromeDilated cardiomyopathy with ataxiaDiaphanospondylodysostosisMast cell sarcomaExtracutaneous mastocytomaAutosomal dominant optic atrophy and cataractB-cell chronic lymphocytic leukemiaSegmental odontomaxillary dysplasiaHyaluronidase deficiencyLate-onset retinal degenerationAmoebic keratitisThrombocytopenia with congenital dyserythropoietic anemiaX-linked intellectual disability with isolated growth hormone deficiency3-methylglutaconic aciduria type 13-methylglutaconic aciduria type 33-methylglutaconic aciduria type 4Idiopathic steroid-sensitive nephrotic syndromeCongenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunizationFamilial renal glucosuriaRhabdoid tumorLiposarcomaOdonto-tricho-ungual-digito-palmar syndromeEctodermal dysplasia with natal teeth, Turnpenny typePure hair and nail ectodermal dysplasiaLimb-mammary syndromeNaegeli-Franceschetti-Jadassohn syndromeHypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndromeAnonychia with flexural pigmentationPAPA syndromeLow phospholipid-associated cholelithiasisIntrahepatic cholestasis of pregnancyTyrosinemia type 3Hypotrichosis-lymphedema-telangiectasia-renal defect syndromeBilateral acute depigmentation of the irisBosley-Salih-Alorainy syndromeAthabaskan brainstem dysgenesis syndromeCircumscribed palmoplantar hypokeratosisWarty dyskeratomaCongenital lactic acidosis, Saguenay-Lac-Saint-Jean typeLeigh syndrome with cardiomyopathyRadiation proctitisVernal keratoconjunctivitisCholangiocarcinomaPost-transplant lymphoproliferative diseaseSmall cell lung cancerAdult acute respiratory distress syndromeInfant acute respiratory distress syndromeMeconium aspiration syndromeBronchopulmonary dysplasiaInfantile apneaChronic thromboembolic pulmonary hypertensionTransient predisposition to invasive pyogenic bacterial infectionImmunodeficiency due to selective anti-polysaccharide antibody deficiencyDopa-responsive dystonia due to sepiapterin reductase deficiencySensory ataxic neuropathy-dysarthria-ophthalmoparesis syndromeCongenital Epstein-Barr virus infectionNeuromyelitis optica spectrum disorderHyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiencyRetinal cavernous hemangiomaDentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndromeSplit hand-split foot-deafness syndromeSandifer syndromeRenal nutcracker syndromeDisseminated peritoneal leiomyomatosisRh deficiency syndromeSilent sinus syndromeClassic glucose transporter type 1 deficiency syndromeCongenital brain dysgenesis due to glutamine synthetase deficiencyCANOMAD syndromeRadio-ulnar synostosis-amegakaryocytic thrombocytopenia syndromeFamilial platelet disorder with associated myeloid malignancyHereditary vascular retinopathyFamilial thrombocytosisCancer-associated retinopathyRapid-onset dystonia-parkinsonismBenign paroxysmal torticollis of infancyPsychogenic movement disordersObesity due to pro-opiomelanocortin deficiencyObesity due to prohormone convertase I deficiencyObesity due to melanocortin 4 receptor deficiencyX-linked intellectual disability-hypotonic face syndromeGlobal developmental delay-osteopenia-ectodermal defect syndromeKidney tubulopathy-dilated cardiomyopathy syndromeHANAC syndromeOssification anomalies-psychomotor developmental delay syndromeSpinal muscular atrophy-Dandy-Walker malformation-cataracts syndromeVisceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndromeCentral neurocytomaParacoccidioidomycosisZygomycosisNon-24-hour sleep-wake syndromeBleeding diathesis due to a collagen receptor defectGrowth delay due to insulin-like growth factor type 1 deficiencyGrowth delay due to insulin-like growth factor I resistanceAcute ackee fruit intoxicationWolman diseaseCholesteryl ester storage diseaseFamilial isolated restrictive cardiomyopathyOsteosclerosis-ichthyosis-premature ovarian failure syndromeFamilial isolated retinal arteriolar tortuosityNorth Carolina macular dystrophyProgressive bifocal chorioretinal atrophyBradyopsiaAutosomal dominant drusenCentral areolar choroidal dystrophyOligocone trichromacyCystoid macular dystrophyOguchi diseaseBrain malformation-congenital heart disease-postaxial polydactyly syndromePrimary immunodeficiency with natural-killer cell deficiency and adrenal insufficiencyPeriodontal Ehlers-Danlos syndromeB4GALT7-related spondylodysplastic Ehlers-Danlos syndromeX-linked Ehlers-Danlos syndromeAngioosteohypotrophic syndromeX-linked sideroblastic anemiaAcquired idiopathic sideroblastic anemiaTropical endomyocardial fibrosisLoeffler endocarditisPrimary progressive freezing gaitSIBIDS syndromePollitt syndromeUllrich congenital muscular dystrophy6q terminal deletion syndromeMORM syndromeTrichorhinophalangeal syndrome type 1Gaucher disease type 1Gaucher disease type 2Gaucher disease type 3Infantile neurovisceral acid sphingomyelinase deficiencyChronic visceral acid sphingomyelinase deficiencyOdontoleukodystrophyMorgagni-Stewart-Morel syndromeMajeed syndromeAnophthalmia/microphthalmia-esophageal atresia syndromeMicrophthalmia-brain atrophy syndromeAuricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndromeMonosomy 9q22.3 syndromeOculo-oto-facial dysplasiaSimpson-Golabi-Behmel syndrome type 2Juvenile polyposis of infancyIgG4-related dacryoadenitis and sialadenitisPPARG-related familial partial lipodystrophyFamilial partial lipodystrophy, Köbberling typeAKT2-related familial partial lipodystrophyAcquired generalized lipodystrophyAcquired partial lipodystrophyHereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndromeGrange syndromeCongenital bile acid synthesis defect type 4Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathyFolinic acid-responsive seizuresSympathetic ophthalmiaInterstitial granulomatous dermatitis with arthritisAtrophoderma vermiculataHyperprolinemia type 2Thyrotoxic periodic paralysisMyxofibrosarcomaEiken syndromeDevelopmental malformations-deafness-dystonia syndromeMandibulofacial dysostosis-microcephaly syndromeNeonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndromeHepatic veno-occlusive disease-immunodeficiency syndromeAcute interstitial pneumoniaRespiratory bronchiolitis-interstitial lung disease syndromeLymphoid interstitial pneumoniaTrichodysplasia-amelogenesis imperfecta syndromeFocal facial dermal dysplasia type IDEND syndromeEpisodic ataxia type 3Episodic ataxia type 4Generalized epilepsy-paroxysmal dyskinesia syndromeBickerstaff brainstem encephalitisJapanese encephalitisCutaneous neuroendocrine carcinomaHereditary painful callositiesIsolated congenital anonychiaIsolated congenital onychodysplasiaDowling-Degos diseaseFamilial progressive hyperpigmentationFamilial reactive perforating collagenosisElastosis perforans serpiginosaDermochondrocorneal dystrophyLinear and whorled nevoid hypermelanosisAcrokeratosis verruciformis of HopfDisseminated superficial actinic porokeratosisIdiopathic trachyonychia2-aminoadipic 2-oxoadipic aciduriaHydroxykynureninuriaSeizures-intellectual disability due to hydroxylysinuria syndrome2-methylbutyryl-CoA dehydrogenase deficiencyIsobutyryl-CoA dehydrogenase deficiencyHJV or HAMP-related hemochromatosisHypoxanthine guanine phosphoribosyltransferase partial deficiencyCrigler-Najjar syndrome type 1Crigler-Najjar syndrome type 2Galactokinase deficiencyGalactose epimerase deficiencyClassic galactosemiaGlycogen storage disease due to liver and muscle phosphorylase kinase deficiencyBiotinidase deficiencyHolocarboxylase synthetase deficiencyPyruvate dehydrogenase E1-alpha deficiencyPyruvate dehydrogenase E2 deficiencyPyruvate dehydrogenase phosphatase deficiencyMild phenylketonuriaClassic phenylketonuriaGM1 gangliosidosis type 1GM1 gangliosidosis type 2GM1 gangliosidosis type 3Glycogen storage disease due to glucose-6-phosphatase deficiency type IaGlycogen storage disease due to glucose-6-phosphatase deficiency type IbGlycogen storage disease type 1cGlycogen storage disease type 1dSanfilippo syndrome type ASanfilippo syndrome type BSanfilippo syndrome type CSanfilippo syndrome type DHereditary coproporphyriaAcute intermittent porphyriaCongenital erythropoietic porphyriaAutosomal erythropoietic protoporphyriaAlpha-N-acetylgalactosaminidase deficiency type 1Alpha-N-acetylgalactosaminidase deficiency type 2Alpha-N-acetylgalactosaminidase deficiency type 3Methylmalonic acidemia with homocystinuria, type cblCMethylmalonic acidemia with homocystinuria, type cblDMethylmalonic acidemia with homocystinuria type cblFNiemann-Pick disease type DFish-eye diseaseFamilial LCAT deficiencyCongenital glucokinase-related hyperinsulinismCongenital bile acid synthesis defect type 1Congenital bile acid synthesis defect type 3Congenital bile acid synthesis defect type 2Progressive familial intrahepatic cholestasis type 2Progressive familial intrahepatic cholestasis type 3Progressive familial intrahepatic cholestasis type 1Vitamin B12-responsive methylmalonic acidemia type cblAVitamin B12-responsive methylmalonic acidemia type cblBVitamin B12-unresponsive methylmalonic acidemia type mut-L-2-hydroxyglutaric aciduriaD-2-hydroxyglutaric aciduriaPMM2-CDGMPI-CDGALG6-CDGALG3-CDGDPM1-CDGMPDU1-CDGALG12-CDGALG8-CDGALG2-CDGALG1-CDGALG9-CDGMGAT2-CDGMOGS-CDGB4GALT1-CDGCOG7-CDGBrachytelephalangic chondrodysplasia punctataChondrodysplasia punctata, tibial-metacarpal typeChondrodysplasia punctata, Toriello type3-phosphoserine phosphatase deficiency, infantile/juvenile form3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile formCongenital ichthyosiform erythrodermaKeratoderma hereditarium mutilans with ichthyosisAutosomal dominant generalized epidermolysis bullosa simplex, severe formEpidermolysis bullosa simplex with mottled pigmentationAutosomal dominant generalized epidermolysis bullosa simplex, intermediate formLocalized epidermolysis bullosa simplexPLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvementIntermediate generalized junctional epidermolysis bullosaJunctional epidermolysis bullosa with pyloric atresiaSevere generalized junctional epidermolysis bullosaJunctional epidermolysis bullosa inversaLate-onset junctional epidermolysis bullosaAutosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine typeAutosomal recessive generalized dystrophic epidermolysis bullosa, severe formRecessive dystrophic epidermolysis bullosa inversaLocalized dystrophic epidermolysis bullosa, pretibial formSelf-improving dystrophic epidermolysis bullosaWoolly hair nevusHermansky-Pudlak syndromeOculocutaneous albinism type 1AOculocutaneous albinism type 2Oculocutaneous albinism type 3Oculocutaneous albinism type 1BOculocutaneous albinism type 4Pseudohypoparathyroidism type 1APseudohypoparathyroidism type 1CPseudopseudohypoparathyroidismMultiple pterygium syndrome, Aslan typeX-linked lethal multiple pterygium syndromeNon-hereditary congenital primary lymphedemaMilroy diseaseCutaneous mastocytomaDiffuse cutaneous mastocytosisMaculopapular cutaneous mastocytosisOley syndromeInflammatory linear verrucous epidermal nevusVerrucous nevusAcanthokeratolytic verrucous nevusVariegate porphyriaAtypical Werner syndromeGriscelli syndrome type 1Griscelli syndrome type 2Griscelli syndrome type 3Pemphigus vegetansPemphigus erythematosusPemphigus foliaceusCutis verticis gyrata-thyroid aplasia-intellectual disability syndromePhakomatosis cesioflammeaPhakomatosis cesiomarmorataPhakomatosis spiloroseaCystic hygromaMacrocystic lymphatic malformationMicrocystic lymphatic malformationPili geminiBrooke-Spiegler syndromeX-linked congenital generalized hypertrichosisAutosomal dominant deafness-onychodystrophy syndromeDOORS syndromePunctate palmoplantar keratoderma type 1Punctate palmoplantar keratoderma type 2Ichthyosis hystrix of Curth-MacklinIchthyosis hystrix graviorHypotonia-failure to thrive-microcephaly syndromeAutosomal recessive hyperinsulinism due to SUR1 deficiencyAutosomal recessive hyperinsulinism due to Kir6.2 deficiencyMild hyperphenylalaninemiaGardner syndromeEhlers-Danlos syndrome with periventricular heterotopiaRocky Mountain spotted feverRickettsialpoxBoutonneuse feverEpidemic typhusMurine typhusPseudotyphus of CaliforniaScrub typhusProximal spinal muscular atrophy type 1Proximal spinal muscular atrophy type 2Proximal spinal muscular atrophy type 3Proximal spinal muscular atrophy type 4Regional odontodysplasiaFlorid cemento-osseous dysplasiaComplex regional pain syndromeVulvovaginal gingival syndromeGlomuvenous malformationCongenital primary aphakiaMicrotiaNarcolepsy type 2Morvan syndromeSolitary bone cystDesmoplastic small round cell tumorT-cell immunodeficiency with thymic aplasiaCAMOS syndromeMegalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndromeWest-Nile encephalitisMycoplasma encephalitisLa Crosse encephalitisSt. Louis encephalitisWestern equine encephalitisEastern equine encephalitisColorado tick feverAcute disseminated encephalomyelitisEncephalitis lethargicaSteroid-responsive encephalopathy associated with autoimmune thyroiditisRubella panencephalitisAgammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndromeSevere dilated cardiomyopathy due to lamin A/C mutationMacrostomia-preauricular tags-external ophthalmoplegia syndromeEnteric anendocrinosisLUMBAR syndromeLeukoencephalopathy-spondyloepimetaphyseal dysplasia syndromeHypercoagulability syndrome due to glycosylphosphatidylinositol deficiencyMicrocytic anemia with liver iron overloadTrichohepatoenteric syndromeIdiopathic malabsorption due to bile acid synthesis defectsSenior-Boichis syndromeHinman syndromeCollagen type III glomerulopathyFibronectin glomerulopathyHereditary thermosensitive neuropathyDesmin-related myopathy with Mallory body-like inclusionsIsaacs syndromeSporadic idiopathic steroid-resistant nephrotic syndromeFamilial encephalopathy with neuroserpin inclusion bodiesPalmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndromeBothnia retinal dystrophyCystic leukoencephalopathy without megalencephalyAddison diseaseNeurogenic scapuloperoneal syndrome, Kaeser typeFacial onset sensory and motor neuronopathyHypomyelination-congenital cataract syndromeCamptodactyly-tall stature-scoliosis-hearing loss syndromeSevere achondroplasia-developmental delay-acanthosis nigricans syndromePlatyspondylic dysplasia, Torrance typeSpondylometaphyseal dysplasia-cone-rod dystrophy syndromeCraniofacial conodysplasiaFamilial digital arthropathy-brachydactylyMesomelic dysplasia, Savarirayan typeMicrocephalic osteodysplastic dysplasia, Saul-Wilson typeIMAGe syndromePseudodiastrophic dysplasiaAstley-Kendall dysplasiaInfantile osteopetrosis with neuroaxonal dysplasiaDiaphyseal medullary stenosis-bone malignancy syndromeCraniometadiaphyseal dysplasia, wormian bone typeEndosteal sclerosis-cerebellar hypoplasia syndromeMetaphyseal dysplasia, Braun-Tinschert typeSingleton-Merten dysplasiaCalvarial doughnut lesions-bone fragility syndromeIdiopathic juvenile osteoporosisSpondylo-ocular syndromeFamilial expansile osteolysisNodulosis-arthropathy-osteolysis syndromeGenochondromatosis type 1DysspondyloenchondromatosisCraniosynostosis-anal anomalies-porokeratosis syndromeIschio-vertebral syndromeGenitopatellar syndromeKeutel syndromeAcropectoral syndromeFetal Gaucher diseaseX-linked intellectual disability, Abidi typeAhmad syndromeMicrophthalmia-ankyloblepharon-intellectual disability syndromeX-linked intellectual disability, Armfield typeX-linked intellectual disability, Cantagrel typeChristianson syndromeKDM5C-related syndromic X-linked intellectual disabilityX-linked intellectual disability-cubitus valgus-dysmorphism syndromeMEHMO syndromeX-linked intellectual disability, Miles-Carpenter typeBRESEK syndromeX-linked intellectual disability, Schimke typeX-linked intellectual disability, Shashi typeX-linked intellectual disability, Siderius typeX-linked intellectual disability, Stocco Dos Santos typeX-linked intellectual disability, Vitale typeX-linked intellectual disability, Wilson typeX-linked intellectual disability, Wittwer typeX-linked spinocerebellar ataxia type 4X-linked intellectual disability, Cabezas typeX-linked epilepsy-learning disabilities-behavior disorders syndromeHSD10 disease, atypical typeX-linked spinocerebellar ataxia type 3X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndromeX-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndromeX-linked intellectual disability-macrocephaly-macroorchidism syndromeDeafness-intellectual disability syndrome, Martin-Probst typeX-linked intellectual disability, Pai typeX-linked intellectual disability, Seemanova typeX-linked intellectual disability, Shrimpton typeX-linked intellectual disability, Stevenson typeX-linked intellectual disability, Stoll typeX-linked intellectual disability-acromegaly-hyperactivity syndromeX-linked intellectual disability, Turner typeX-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndromeX-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndromeX-linked intellectual disability-retinitis pigmentosa syndromeX-linked intellectual disability-spastic paraplegia with iron deposits syndromeX-linked neurodegenerative syndrome, Bertini typeFried syndromeX-linked neurodegenerative syndrome, Hamel typeX-linked intellectual disability, Zorick typeX-linked intellectual disability-ataxia-apraxia syndromeRheumatoid factor-negative polyarticular juvenile idiopathic arthritisOligoarticular juvenile idiopathic arthritisSystemic-onset juvenile idiopathic arthritisRheumatoid factor-positive polyarticular juvenile idiopathic arthritisPsoriasis-related juvenile idiopathic arthritisEnthesitis-related juvenile idiopathic arthritisShort stature-pituitary and cerebellar defects-small sella turcica syndromeAL amyloidosisAA amyloidosisWild type ABeta2M amyloidosisATTRV30M amyloidosisAGel amyloidosisHereditary amyloidosis with primary renal involvementATTRV122I amyloidosisX-linked reticulate pigmentary disorderHereditary cerebral amyloid angiopathyDPAGT1-CDGX-linked severe congenital neutropeniaIsolated patella aplasia/hypoplasiaAtypical lichen myxedematosusPOMT1-related limb-girdle muscular dystrophy R11Helicoid peripapillary chorioretinal degenerationFamilial adult myoclonic epilepsyAplasia of lacrimal and salivary glandsCongenital analbuminemiaHemolytic anemia due to adenylate kinase deficiencyAlport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndromeAtrichia with papular lesionsFamilial avascular necrosis of femoral headLissencephaly type 3-familial fetal akinesia sequence syndromeLissencephaly type 3-metacarpal bone dysplasia syndromeChronic neutrophilic leukemiaChronic myeloproliferative disease, unclassifiableJuvenile myelomonocytic leukemiaMyelodysplastic neoplasm with increased blastsMyelodysplastic syndrome associated with isolated del(5q) chromosome abnormalityAcute panmyelosis with myelofibrosisAcute myeloid leukaemia with myelodysplasia-related featuresAcute basophilic leukemiaMyeloid sarcomaB-cell prolymphocytic leukemiaSplenic marginal zone lymphomaPlasmacytomaNon-amyloid monoclonal immunoglobulin deposition diseaseHeavy chain diseaseNodal marginal zone B-cell lymphomaLymphomatoid granulomatosisBlastic plasmacytoid dendritic cell neoplasmT-cell prolymphocytic leukemiaT-cell large granular lymphocyte leukemiaAggressive NK-cell leukemiaAdult T-cell leukemia/lymphomaExtranodal nasal NK/T cell lymphomaEnteropathy-associated T-cell lymphomaHepatosplenic T-cell lymphomaSubcutaneous panniculitis-like T-cell lymphomaPrimary cutaneous peripheral T-cell lymphoma not otherwise specifiedAngioimmunoblastic T-cell lymphomaNodular lymphocyte predominant Hodgkin lymphomaHistiocytic sarcomaLangerhans cell sarcomaInterdigitating dendritic cell sarcomaFollicular dendritic cell sarcomaDendritic cell sarcoma not otherwise specifiedMethotrexate-associated lymphoproliferative disordersGelastic seizures with hypothalamic hamartomaHemiconvulsion-hemiplegia-epilepsy syndromeMyoclonic epilepsy of infancyEpilepsy with myoclonic absencesLymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndromeLymphedema-atrial septal defects-facial changes syndromeDiffuse palmoplantar keratoderma-acrocyanosis syndromeKeratosis palmaris et plantaris-clinodactyly syndromeDermatopathia pigmentosa reticularisHereditary palmoplantar keratoderma, Gamborg-Nielsen typeMal de MeledaSialidosis type 2Rare non-syndromic genetic deafnessAutosomal recessive non-syndromic intellectual disabilityS-adenosylhomocysteine hydrolase deficiencyFamilial acute necrotizing encephalopathyIsolated congenital anosmiaIchthyosis-prematurity syndromePosterior column ataxia-retinitis pigmentosa syndromeTritanopiaTerminal osseous dysplasia-pigmentary defects syndromeSuperior limbic keratoconjunctivitisVacuolar myopathy with sarcoplasmic reticulum protein aggregatesAortic dilatation-joint hypermobility-arterial tortuosity syndromeHypomyelination-hypogonadotropic hypogonadism-hypodontia syndromeNeurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiencyCongenital insensitivity to pain-anosmia-neuropathic arthropathyObesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndromeAutosomal recessive ataxia, Beauce typeAutosomal dominant progressive nephropathy with hypertensionHypertension due to gain-of-function mutations in the mineralocorticoid receptorAmelogenesis imperfectaX-linked Alport syndromeAutosomal dominant Alport syndromeAutosomal recessive Alport syndromeAutosomal dominant polycystic kidney disease type 1 with tuberous sclerosisPseudohypoaldosteronism type 2APseudohypoaldosteronism type 2BPseudohypoaldosteronism type 2CMUC1-related autosomal dominant tubulointerstitial kidney diseaseUMOD-related autosomal dominant tubulointerstitial kidney diseasePalmoplantar keratoderma with tonotubular keratinAutosomal recessive generalized epidermolysis bullosa simplexAutosomal recessive generalized dystrophic epidermolysis bullosa, intermediate formDystrophic epidermolysis bullosa pruriginosaLissencephaly syndrome, Norman-Roberts typeX-linked hypophosphatemiaAutosomal dominant hypophosphatemic ricketsBartter syndrome type 4Erythema elevatum diutinumX-linked cone dysfunction syndrome with myopiaUndifferentiated connective tissue syndromeInflammatory pseudotumor of the liverParkinson-dementia complex of GuamRadiation myelitisPrimary immunodeficiency syndrome due to P14/LAMTOR2 deficiencyDeafness with labyrinthine aplasia, microtia, and microdontiaPrimary erythromelalgiaHemolytic anemia due to glutathione reductase deficiencyNon-spherocytic hemolytic anemia due to hexokinase deficiencyAutoimmune hemolytic anemia, warm typeParoxysmal cold hemoglobinuriaMixed-type autoimmune hemolytic anemiaDrug-induced autoimmune hemolytic anemiaShiga toxin-associated hemolytic uremic syndromeHemoglobin D diseasePrimary familial and congenital erythrocytosisFamilial pseudohyperkalemiaHereditary folate malabsorptionRetinopathy of prematuritySepsis in premature infantsRecurrent hepatitis C virus induced liver disease in liver transplant recipientsComplications after hematopoietic stem cell transplantationModerate and severe traumatic brain injurySpinal cord injurySudden sensorineural hearing lossDiffuse alveolar hemorrhageAcute liver failureAcute peripheral arterial occlusionAcquired aneurysmal subarachnoid hemorrhagePneumonia caused by Pseudomonas aeruginosa infectionCocaine intoxicationSystemic monochloroacetate poisoningHepatitis B reinfection following liver transplantationPartial deep dermal and full thickness burnsInvasive infections due to vancomycin-resistant enterococciScarring in glaucoma filtration surgical proceduresAIDS wasting syndromeCharcot-Marie-Tooth disease-deafness-intellectual disability syndromeHereditary motor and sensory neuropathy, Okinawa typeSevere early-onset axonal neuropathy due to MFN2 deficiencyHereditary motor and sensory neuropathy with acrodystrophyHereditary motor and sensory neuropathy type 6Mandibuloacral dysplasia with type A lipodystrophyMandibuloacral dysplasia with type B lipodystrophyCentrifugal lipodystrophyDrug-induced localized lipodystrophyIdiopathic localized lipodystrophyPanniculitis-induced localized lipodystrophyPressure-induced localized lipoatrophyNon-hereditary late-onset primary lymphedemaMeige diseaseChilblain lupusDiscoid lupus erythematosusHypertrophic or verrucous lupus erythematosusLupus erythematosus tumidusLupus erythematosus panniculitisLocalized sclerodermaCREST syndromeSystemic sclerosisAcanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndromeParkes Weber syndromeCapillary-lymphatic-venous malformation with segmental distributionCockayne syndrome type 1Cockayne syndrome type 2Cockayne syndrome type 3Margarita island ectodermal dysplasiaBlau syndromeEarly-onset sarcoidosisXeroderma pigmentosum variantAutosomal dominant cutis laxaAutosomal recessive cutis laxa type 1Brittle cornea syndromePrimary intestinal lymphangiectasiaSecondary intestinal lymphangiectasiaHypotrichosis simplex of the scalpTelangiectasia macularis eruptiva perstansAnonychia-onychodystrophy syndromeNodular lichen myxedematosusDiscrete papular lichen myxedematosusPapular mucinosis of infancyAcral persistent papular mucinosisSelf-healing papular mucinosisLocalized lichen myxedematosus with mixed features of different subtypesLocalized lichen myxedematosus with monoclonal gammopathy or systemic symptomsScleromyxedema without monoclonal gammopathyX-linked non-syndromic genetic deafnessAutosomal dominant non-syndromic genetic deafnessAutosomal recessive non-syndromic genetic deafnessMitochondrial non-syndromic sensorineural deafnessDeafness-hypogonadism syndromeJervell and Lange-Nielsen syndromeOrofaciodigital syndrome type 7Otopalatodigital syndrome type 1Otopalatodigital syndrome type 2Stickler syndrome type 1Stickler syndrome type 2Charcot-Marie-Tooth disease type 1EHypothyroidism due to TSH receptor mutationsIsolated thyroid-stimulating hormone deficiencyNon-acquired panhypopituitarismCongenital lipoid adrenal hyperplasia due to STAR deficencyCongenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiencyCongenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiencyClassic congenital adrenal hyperplasia due to 21-hydroxylase deficiencyCongenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency46,XY difference of sex development due to isolated 17,20-lyase deficiencyPartial androgen insensitivity syndromeAdenovirus infection in immunocompromised patientsAnophthalmia-heart and pulmonary anomalies-intellectual disability syndromeCardiomyopathy-hypotonia-lactic acidosis syndromeDK1-CDGIchthyosis-hypotrichosis syndromeBody skin hyperlaxity due to vitamin K-dependent coagulation factor deficiencyAcquired monoclonal Ig light chain-associated Fanconi syndromeCryoglobulinemic vasculitisSimple cryoglobulinemiaUnspecified juvenile idiopathic arthritisTSH-secreting pituitary adenomaFunctioning gonadotropic adenomaNon-functioning pituitary adenomaPituitary deficiency due to Rathke cleft cystsPituitary dermoid and epidermoid cystsGerminoma of the central nervous systemPituitary deficiency due to empty sella turcica syndromeSheehan syndromeCongenital esophageal diverticulumChronic pneumonitis of infancyNon-specific interstitial pneumoniaFamilial thoracic aortic aneurysm and aortic dissectionIsolated cryptophthalmiaIsolated ankyloblepharon filiforme adnatumCongenital ptosisMarcus-Gunn syndromeCongenital Horner syndromePilomatrixomaIsolated congenital alacrimaRing dermoid of corneaRieger anomalyIsolated congenital megalocorneaIsolated congenital sclerocorneaCongenital ectropion uveaeEarly onset non-syndromic cataractMacular coloboma-cleft palate-hallux valgus syndromePersistent hyperplastic primary vitreousSnowflake vitreoretinal degenerationFamilial congenital palsy of trochlear nerveTubulointerstitial nephritis and uveitis syndromeLyme diseaseRelapsing feverCongenital tufting enteropathyRenal agenesis, unilateralRenal hypoplasiaRenal dysplasiaCongenital megacalycosisPosterior urethral valveHNF1B-related autosomal dominant tubulointerstitial kidney diseaseAutosomal dominant intermediate Charcot-Marie-Tooth disease type EPauci-immune glomerulonephritisHypocalcemic vitamin D-resistant ricketsTransient pseudohypoaldosteronismRenal dysplasia, unilateralRenal dysplasia, bilateralUnilateral congenital megacalycosisCongenital bilateral megacalycosisFragile X-associated tremor/ataxia syndromePfeiffer syndrome type 1Pfeiffer syndrome type 2Pfeiffer syndrome type 3Crouzon syndrome-acanthosis nigricans syndromeCloverleaf skull-multiple congenital anomalies syndromeShort rib-polydactyly syndrome, Beemer-Langer typeShort rib-polydactyly syndrome, Majewski typeShort rib-polydactyly syndrome, Saldino-Noonan typeShort rib-polydactyly syndrome, Verma-Naumoff typeThanatophoric dysplasia type 2Thanatophoric dysplasia, Glasgow variantPolyostotic fibrous dysplasiaMonostotic fibrous dysplasiaMild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritisSpondyloepiphyseal dysplasia, Omani typeSpondyloepimetaphyseal dysplasia, PAPSS2 typeSpondyloepiphyseal dysplasia, Kimberley typeSpondyloepiphyseal dysplasia tardaAdenoma of pancreasOkihiro syndromeAchondrogenesis type 2HypochondrogenesisAchondrogenesis type 1BAchondrogenesis type 1ABrachyolmia type 1, Hobaek typeBrachyolmia, Maroteaux typeBrachyolmia type 1, Toledo typeAutosomal dominant brachyolmiaMultiple epiphyseal dysplasia type 4Multiple epiphyseal dysplasia type 1Multiple epiphyseal dysplasia type 5Spondylometaphyseal dysplasia, Kozlowski typeSpondylometaphyseal dysplasia, 'corner fracture' typeSpondylometaphyseal dysplasia, Schmidt typeSpondylometaphyseal dysplasia, Sedaghatian typeIsolated ulnar hemimeliaIsolated radial hemimeliaIsolated tibial hemimeliaIsolated fibular hemimeliaAutosomal recessive Kenny-Caffey syndromeAutosomal dominant Kenny-Caffey syndromeAutosomal dominant omodysplasiaAutosomal recessive omodysplasiaPelviscapular dysplasiaPostaxial polydactyly type APostaxial polydactyly type BPolydactyly of a triphalangeal thumbPolydactyly of an index fingerPolysyndactylyPolydactyly of a biphalangeal thumb and/or halluxSpondyloepimetaphyseal dysplasia congenita, Strudwick typeAnauxetic dysplasiaX-linked spondyloepimetaphyseal dysplasiaSpondyloepimetaphyseal dysplasia, Irapa typeSpondyloepimetaphyseal dysplasia, Shohat typeSpondyloepimetaphyseal dysplasia, Missouri typeSPONASTRIME dysplasiaSpondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndromeSpondyloepimetaphyseal dysplasia with joint laxity, leptodactylic typeFamilial hypocalciuric hypercalcemia type 1Brachydactyly type A6Brachydactyly type BBrachydactyly type CBrachydactyly type EBrachydactyly type A1Brachydactyly type A5Brachydactyly type A4Ballard syndromeBrachydactyly type A2Brachydactyly type A7Genochondromatosis type 2Juvenile sialidosis type 2Congenital sialidosis type 2Syndactyly type 1Syndactyly type 2Syndactyly type 3Syndactyly type 4Syndactyly type 5Brachydactyly-syndactyly, Zhao typeHurler syndromeScheie syndromeHurler-Scheie syndromePediatric systemic lupus erythematosusMixed cryoglobulinemia type IIMixed cryoglobulinemia type IIIHeavy chain deposition diseaseLight and heavy chain deposition diseaseLight chain deposition diseaseC3 deposition glomerulonephritis without proliferationAApoAI amyloidosisALys amyloidosisAFib amyloidosisJuvenile polymyositisDense deposit diseaseAtypical hemolytic uremic syndrome with anti-factor H antibodiesCongenital thrombotic thrombocytopenic purpuraImmune-mediated thrombotic thrombocytopenic purpuraLate-onset nephronophthisisInfantile nephronophthisisJuvenile nephronophthisisPrimary hyperoxaluria type 1Primary hyperoxaluria type 2Primary hyperoxaluria type 3Xanthinuria type IXanthinuria type IIBartter syndrome type 3Nephrogenic syndrome of inappropriate antidiuresisAutosomal recessive proximal renal tubular acidosisAutosomal dominant distal renal tubular acidosisAutosomal recessive distal renal tubular acidosis without deafnessDistal renal tubular acidosis with anemiaAutosomal recessive distal renal tubular acidosis with deafnessCystinuria type ACystinuria type BHemoglobin H diseaseDent disease type 1Dent disease type 2Juvenile dermatomyositisUnicentric Castleman diseaseFull schwannomatosisLobar holoprosencephalyAlobar holoprosencephalyMidline interhemispheric variant of holoprosencephalyIsolated epispadiasCloacal exstrophyClassic bladder exstrophyFG syndrome type 1Laryngotracheoesophageal cleft type 1Laryngotracheoesophageal cleft type 2Laryngotracheoesophageal cleft type 3Laryngotracheoesophageal cleft type 4Corpus callosum dysgenesis-hypopituitarism syndromeX-linked intellectual disability, Fichera typeX-linked intellectual disability, Porteous typeHamel cerebro-palato-cardiac syndromeX-linked intellectual disability, Golabi-Ito-Hall typeX-linked intellectual disability, Sutherland-Haan typeX-linked intellectual disability, Hedera typeFamilial thyroglossal duct cystOromandibular dystoniaBlepharospasm-oromandibular dystonia syndromeMeningoceleOpen spinal dysraphism with a myelomeningoceleHolmes-Gang syndromeChudley-Lowry-Hoar syndromeJuberg-Marsidi syndromeCarpenter-Waziri syndromeSmith-Fineman-Myers syndromeAnotiaIsolated humero-ulnar synostosisNeovascular glaucomaUremic pruritus12q14 microdeletion syndromeDeafness-infertility syndrome15q24 microdeletion syndromeSevere intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasiaSpondyloepiphyseal dysplasia congenitaNon-functioning paragangliomaPartington syndromeCerebro-oculo-facial-lymphatic syndromeBlue diaper syndromeCytophagic histiocytic panniculitisHereditary renal hypouricemiaPseudohypoparathyroidism type 1BPseudohypoparathyroidism type 2Mills syndromeNeuroleptic malignant syndromeCerebellar ataxia, Cayman typeSpinocerebellar ataxia with axonal neuropathy type 1Recessive mitochondrial ataxia syndromeSpinocerebellar ataxia type 7Anonychia congenita totalisHepatoerythropoietic porphyriaLissencephaly due to LIS1 mutationAcute adrenal insufficiencySecondary short bowel syndromeCOG8-CDGAngioma serpiginosumCongenital tracheomalaciaTwin to twin transfusion syndromeAutosomal recessive spinocerebellar ataxia-blindness-deafness syndromeAutosomal recessive cerebellar ataxia-movement disorder syndromeMesocardiaCongenital aortic valve atresiaStevens-Johnson syndrome/toxic epidermal necrolysis spectrumTricuspid valve agenesisCongenital tricuspid stenosisStraddling or overriding tricuspid valveAccessory tricuspid valve tissueCleft mitral valveDouble-orifice mitral valvePremature closure of the arterial ductCongenital coronary artery aneurysmCombined pituitary hormone deficiencies, genetic formsPituitary stalk interruption syndromeCongenital anomaly of hepatic veinAdenohypophysitisPanhypophysitisPituitary apoplexyPost-traumatic pituitary deficiencyAcquired arginine vasopressin deficiencyCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyFamilial adrenal hypoplasia with absent pituitary luteinizing hormoneX-linked adrenal hypoplasia congenitaNon-syndromic posterior hypospadiasIdiopathic isolated micropenisThyroid ectopiaAthyreosisCongenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodiesFamilial thyroid dyshormonogenesisIdiopathic congenital hypothyroidismThyroid hemiagenesisThyroid hypoplasiaTetrasomy 21 syndromeMosaic trisomy 4 syndromeMosaic trisomy 5 syndromeMosaic trisomy 8 syndromeMosaic trisomy 10 syndromeMosaic trisomy 22 syndromeDistal duplication 1p36 syndromeDistal duplication 2p syndromeDistal duplication 3p syndrome4p16.3 microduplication syndromeDistal duplication 7p syndromeBeckwith-Wiedemann syndrome due to 11p15 microduplication16p13.3 microduplication syndrome8p inverted duplication/deletion syndromeDistal duplication 2q syndrome3q26 microduplication syndromeDistal duplication 4q syndromeDistal duplication 5q syndromeDistal duplication 6q syndromeDistal duplication 8q syndromeDistal duplication 9q syndromeDistal duplication 10q syndromeDistal duplication 11q syndromeDistal duplication 13q syndromeDistal duplication 16q syndromeDistal duplication 20q syndromeDistal duplication 22q syndromeNon-distal duplication 9q syndrome7q11.23 microduplication syndromeMonosomy 22 syndromeDistal deletion 6p syndromeDistal deletion 7p syndromeDistal deletion 19p syndromeDistal deletion 4q syndromeKleefstra syndrome due to 9q34 microdeletionDistal deletion 10q syndromeDistal deletion 12q syndromeDistal deletion 14q syndromeNon-distal deletion 12q syndromeRecombinant 8 syndromeMonosomy 13q34 syndromeKoolen-De Vries syndromeEmanuel syndromeRing chromosome 2 syndromeRing chromosome 3 syndromeRing chromosome 9 syndromeRing chromosome 11 syndromeRing chromosome 13 syndromeRing chromosome 15 syndromeRing chromosome 16 syndromeMaternal uniparental disomy of chromosome 2 syndromeMaternal uniparental disomy of chromosome 4 syndromeMaternal uniparental disomy of chromosome 6 syndromeSilver-Russell syndrome due to maternal uniparental disomy of chromosome 7Maternal uniparental disomy of chromosome 9 syndromeTemple syndrome due to maternal uniparental disomy of chromosome 14Maternal uniparental disomy of chromosome 16 syndromeMaternal uniparental disomy of chromosome 20 syndromeMaternal uniparental disomy of chromosome 21 syndromeMaternal uniparental disomy of chromosome 22 syndromePaternal uniparental disomy of chromosome 5 syndromePaternal uniparental disomy of chromosome 6 syndromePaternal uniparental disomy of chromosome 7 syndromeBeckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11Paternal uniparental disomy of chromosome 20 syndromePaternal uniparental disomy of chromosome 21 syndromeX small rings syndromeCushing disease48,XXXY syndrome49,XXXXY syndromeLeydig cell hypoplasia due to complete LH resistanceLeydig cell hypoplasia due to partial LH resistanceIsolated partial vaginal agenesisKagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14Eisenmenger syndromeRiboflavin transporter deficiencySolar urticariaLigneous conjunctivitisFingerprint body myopathyGlycogen storage disease due to phosphoglycerate mutase deficiencyRippling muscle diseaseReducing body myopathyZebra body myopathyRigid spine syndromePontocerebellar hypoplasia type 3Mega-cisterna magnaGRFomaPPomaInsulinomaGlucagonomaVIPomaSomatostatinomaThyroid lymphomaCarney-Stratakis syndromeBronchial neuroendocrine tumorThymic neuroendocrine tumorFamilial papillary thyroid carcinoma with renal papillary neoplasiaCardiogenic shockFurlong syndromeBohring-Opitz syndromeThoracic outlet syndromeKienbock diseaseOsgood-Schlatter diseasePanner diseaseSinding-Larsen-Johansson diseaseMelanoma of soft tissueDural sinus malformation with arteriovenous shuntHunter-McAlpine syndromePersistent placoid maculopathyABri amyloidosisADan amyloidosisPostencephalitic parkinsonismPellagraDementia pugilisticaCaribbean parkinsonismRobinow syndromeRenal hypoplasia, unilateralRenal hypoplasia, bilateralUnilateral multicystic dysplastic kidneyBilateral multicystic dysplastic kidneyMultiloculated renal cystRenal tubular dysgenesis due to twin-twin transfusionDrug-related renal tubular dysgenesisRenal tubular dysgenesis of genetic originRight isomerismSteroid-sensitive nephrotic syndrome without renal biopsyPrimary membranous glomerulonephritisPauci-immune glomerulonephritis with ANCAPauci-immune glomerulonephritis without ANCANon-amyloid fibrillary glomerulopathyImmunotactoid glomerulopathyCongenital renal artery stenosisMaternal uniparental disomy of chromosome 13 syndrome17q11 microdeletion syndromeGenetic non-syndromic obesityHereditary combined deficiency of vitamin K-dependent clotting factorsPontocerebellar hypoplasiaSyndromic orbital border hypoplasiaRare isolated myopiaAutosomal dominant optic atrophy, classic formAutosomal recessive isolated optic atrophyCongenital trochlear nerve palsyPrader-Willi syndrome due to maternal uniparental disomy of chromosome 15Spinocerebellar ataxia type 1Spinocerebellar ataxia type 2Spinocerebellar ataxia type 3Spinocerebellar ataxia type 6Spinocerebellar ataxia type 17Spinocerebellar ataxia type 8Spinocerebellar ataxia type 10Spinocerebellar ataxia type 12Spinocerebellar ataxia type 14Spinocerebellar ataxia type 27ASpinocerebellar ataxia type 4Spinocerebellar ataxia type 5Spinocerebellar ataxia type 11Spinocerebellar ataxia type 13Spinocerebellar ataxia type 15/16Spinocerebellar ataxia type 16Spinocerebellar ataxia type 18Spinocerebellar ataxia type 19/22Spinocerebellar ataxia type 21Sleep-related hypermotor epilepsyPitt-Rogers-Danks syndromeAlpha-thalassemia-intellectual disability syndrome linked to chromosome 16Prader-Willi syndrome due to paternal 15q11q13 deletionAngelman syndrome due to maternal 15q11q13 deletionAngelman syndrome due to paternal uniparental disomy of chromosome 15Isochromosomy Yp syndromeIsochromosomy Yq syndromePrimary dystonia, DYT4 typePrimary dystonia, DYT6 typePrimary dystonia, DYT13 typeAutosomal dominant dopa-responsive dystoniaParoxysmal kinesigenic dyskinesiaParoxysmal non-kinesigenic dyskinesiaParoxysmal exertion-induced dyskinesiaParoxysmal hypnogenic dyskinesiaHypohidrotic ectodermal dysplasia with immunodeficiencySelf-limited epilepsy with autonomic seizuresChildhood occipital visual epilepsyLandau-Kleffner syndromeFamilial temporal lobe epilepsyFamilial focal epilepsy with variable fociChronic myelomonocytic leukemiaAtypical chronic myeloid leukemiaUnclassified myelodysplastic/myeloproliferative diseaseMyelodysplastic neoplasm with low blastsUnclassified myelodysplastic syndromeAcute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)Acute myeloid leukemia with 11q23 abnormalitiesAcute myeloid leukemia with minimal differentiationAcute myeloblastic leukemia without maturationAcute myeloblastic leukemia with maturationAcute undifferentiated leukemiaBilineal acute leukemiaAcute biphenotypic leukemiaPrimary mediastinal large B-cell lymphomaIntravascular large B-cell lymphomaAnaplastic large cell lymphomaLymphomatoid papulosisClassic Hodgkin lymphoma, nodular sclerosis typeClassic Hodgkin lymphoma, mixed cellularity typeClassic Hodgkin lymphoma, lymphocyte-rich typeClassic Hodgkin lymphoma, lymphocyte-depleted typeIndolent systemic mastocytosisSystemic mastocytosis with associated hematologic neoplasmAggressive systemic mastocytosisMast cell leukemiaDesquamative interstitial pneumoniaAutosomal dominant Emery-Dreifuss muscular dystrophyAutosomal recessive Emery-Dreifuss muscular dystrophyCharcot-Marie-Tooth disease type 2B1Primary ciliary dyskinesia, Kartagener typeX-linked Emery-Dreifuss muscular dystrophyCommon hereditary elliptocytosisHomozygous hereditary elliptocytosisHereditary pyropoikilocytosisSoutheast Asian ovalocytosisCongenital dyserythropoietic anemia type ICongenital dyserythropoietic anemia type IIITransient erythroblastopenia of childhoodPrimary acquired pure red cell aplasiaCongenital dyserythropoietic anemia type IIHemophilia AHemophilia BFamilial afibrinogenemiaFamilial dysfibrinogenemiaBleeding diathesis due to glycoprotein VI deficiencyBleeding diathesis due to integrin alpha2-beta1 deficiencyBilateral perisylvian polymicrogyriaEarly-onset X-linked optic atrophyPeriventricular nodular heterotopiaCongenital muscular dystrophy type 1BCongenital muscular dystrophy type 1DBecker muscular dystrophyDuchenne muscular dystrophyOculopharyngodistal myopathyAmish nemaline myopathyCongenital myopathy with excess of thin filamentsCongenital multicore myopathy with external ophthalmoplegiaNeutral lipid storage disease with ichthyosisNeutral lipid storage disease with myopathyDesminopathyDistal myotilinopathyLate-onset distal myopathy, Markesbery-Griggs typePostsynaptic congenital myasthenic syndromePresynaptic congenital myasthenic syndromeSynaptic congenital myasthenic syndromeAcute inflammatory demyelinating polyradiculoneuropathyAcute motor and sensory axonal neuropathyAcute motor axonal neuropathyMiller Fisher syndromeSpinal muscular atrophy with respiratory distress type 1Blake pouch cystMultiple system atrophy, parkinsonian typeHuntington disease-like 2Isolated colobomatous microphthalmiaColoboma of choroid and retinaColoboma of eye lensColoboma of irisColoboma of maculaColoboma of eyelidColoboma of optic discCongenital symblepharonComplete cryptophthalmiaPartial cryptophthalmiaInverse Marcus-Gunn phenomenonMeesmann corneal dystrophyLisch epithelial corneal dystrophyEpithelial basement membrane dystrophyGelatinous drop-like corneal dystrophyClimatic droplet keratopathySubepithelial mucinous corneal dystrophyThiel-Behnke corneal dystrophyReis-Bücklers corneal dystrophyGranular corneal dystrophy type IGranular corneal dystrophy type IILattice corneal dystrophy type ISchnyder corneal dystrophyCentral discoid corneal dystrophyMacular corneal dystrophyFleck corneal dystrophyPosterior amorphous corneal dystrophyCentral cloudy dystrophy of FrançoisPosterior polymorphous corneal dystrophyFuchs endothelial corneal dystrophyCongenital hereditary endothelial dystrophy type ICongenital glaucomaJuvenile glaucomaAxenfeld anomalyChandler syndromeCogan-Reese syndromeEssential iris atrophyPulverulent cataractEarly-onset sutural cataractEarly-onset anterior polar cataractCerulean cataractCoralliform cataractEarly-onset nuclear cataractEarly-onset partial cataractEarly-onset posterior polar cataractTotal early-onset cataractEarly-onset zonular cataractAdult-onset foveomacular vitelliform dystrophyButterfly-shaped pigment dystrophyReticular dystrophy of the retinal pigment epitheliumMultifocal pattern dystrophy simulating fundus flavimaculatusFundus pulverulentusSpastic paraplegia type 7X-linked Charcot-Marie-Tooth disease type 5Spastic paraplegia type 2Adult-onset autosomal dominant leukodystrophyCongenitally uncorrected transposition of the great arteries with coarctationDouble outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosisDouble outlet right ventricle with subaortic ventricular septal defectDouble outlet right ventricle with subpulmonary ventricular septal defectDouble outlet right ventricle with non-committed subpulmonary ventricular septal defectDouble outlet right ventricle with doubly committed ventricular septal defectPulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndromePulmonary artery coming from patent ductus arteriosusAbnormal origin of right or left pulmonary artery from the aortaDiscrete fixed membranous subaortic stenosisDiscrete fibromuscular subaortic stenosisTunnel subaortic stenosisValvular pulmonary stenosisCongenital anomaly of the tricuspid valve chordaeParachute tricuspid valveCongenital mitral stenosisHypoplasia of the mitral valve annulusCongenital supravalvular mitral ringCongenital unguarded mitral orificeAccessory mitral valve tissueMitral valve agenesisShone complexStraddling and/or overriding mitral valveComplete atrioventricular septal defect with ventricular hypoplasiaComplete atrioventricular septal defect-tetralogy of FallotAorto-right ventricular tunnelAorto-left ventricular tunnelCongenital patent ductus arteriosus aneurysmEncircling double aortic archPersistent fifth aortic archKommerell diverticulumNeuhauser anomalyCervical aortic archRight aortic archDysphagia lusoriaPulmonary artery hypoplasiaPeripheral pulmonary stenosisCoronary ostial stenosis or atresiaAbnormal number of coronary ostiaMalposition of a coronary ostiumInterventricular septum aneurysmLaubry-Pezzi syndromeCongenital Gerbode defectCor triatriatum dexterCor triatriatum sinisterJuxtaposition of the atrial appendagesEctasia of the right atrial appendageEctasia of the left atrial appendageAtrial septal defect, ostium secundum typeAtrial septal defect, coronary sinus typeAtrial septal defect, sinus venosus typeAtrial septal defect, ostium primum typeAtrial septal aneurysmPersistent left superior vena cava connecting through coronary sinus to left-sided atriumRight superior vena cava connecting to left-sided atriumPersistent left superior vena cava connecting to the roof of left-sided atriumAbsence of innominate veinSubaortic course of innominate veinAgenesis of the superior vena cavaCoronary sinus stenosisCoronary sinus atresiaRight inferior vena cava connecting to left-sided atriumPersistent eustachian valveAzygos continuation of the inferior vena cavaCongenital stenosis of the inferior vena cavaInferior vena cava interruption without azygos continuationCongenital partial pulmonary venous return anomalyCongenital total pulmonary venous return anomalyCongenital pulmonary vein atresiaCongenital complete agenesis of pericardiumCongenital partial agenesis of pericardiumPleuro-pericardial cyst6-phosphogluconate dehydrogenase deficiencyHemolytic anemia due to erythrocyte adenosine deaminase overproductionLymphedema-posterior choanal atresia syndromeMicrocephaly-cutis verticis gyrata-lymphedema syndromeAcquired von Willebrand syndromeEpiblepharonTarsal kink syndromeIsolated congenital ectropionEuryblepharonCongenital eyelid retractionIsolated distichiasisKandori fleck retinaMonosomy X syndromeMosaic monosomy X syndromePaternal uniparental disomy of chromosome 13 syndrome48,XYYY syndrome49,XYYYY syndromeIsolated familial medullary thyroid carcinomaTurner syndrome due to structural X chromosome anomaliesComplete androgen insensitivity syndromeSpondyloepimetaphyseal dysplasia, Handigodu typeDappled diaphyseal dysplasiaMetaphyseal chondromatosis with D-2-hydroxyglutaric aciduriaCheirospondyloenchondromatosisPrimary dystonia, DYT2 typeFried's tooth and nail syndromeDermotrichic syndromeAlveolar synechia-ankyloblepharon-ectodermal dysplasia syndromeMesial temporal lobe epilepsy with hippocampal sclerosisEarly-onset obesity-hyperphagia-severe developmental delay syndromePunctate acrokeratoderma freckle-like pigmentationMASS syndromeLeber plus diseasePituitary gigantismIsolated sulfite oxidase deficiencySulfite oxidase deficiency due to molybdenum cofactor deficiencyMyotonia fluctuansMyotonia permanensAcetazolamide-responsive myotoniaKing-Denborough syndromeAmish lethal microcephalyTyphoidPontiac feverKostmann syndromeAtypical progressive supranuclear palsy syndromeAlveolar rhabdomyosarcomaEmbryonal rhabdomyosarcomaBifid uvulaCleft velumMosaic trisomy 9 syndromeAchalasia-alacrimia syndromeDentin dysplasia type IDentin dysplasia type IIDentin dysplasia-sclerotic bones syndromeSubcortical band heterotopiaAnodontiaOligodontiaHemimegalencephalyHaddad syndromeOculootodental syndromePEHO-like syndromeFamilial porencephalyNeuronal intestinal pseudoobstructionLIG4 syndromeNon-polyposis Turcot syndromeTurcot syndrome with polyposisFamilial gestational hyperthyroidismLassa feverNipah virus diseaseMarburg hemorrhagic feverCrimean-Congo hemorrhagic feverDengue feverYellow feverResistance to thyrotropin-releasing hormone syndromeLeukocyte adhesion deficiency type ILeukocyte adhesion deficiency type IILeukocyte adhesion deficiency type IIIGenetic recurrent myoglobinuriaAutosomal dominant myoglobinuriaGlycogen storage disease due to muscle beta-enolase deficiencyRavine syndromeOvarioleukodystrophyCree leukoencephalopathyPrimary syringomyeliaSecondary syringomyeliaIdiopathic syringomyeliaPrecursor B-cell acute lymphoblastic leukemiaPrecursor T-cell acute lymphoblastic leukemiaSpermatocytic seminomaThymomaThymic carcinomaThymic neuroendocrine carcinomaFamilial isolated hyperparathyroidismHyperparathyroidism-jaw tumor syndromeIsolated permanent neonatal diabetes mellitusTransient neonatal diabetes mellitusAcute megakaryoblastic leukemia in children with Down syndromeCushing syndrome due to ectopic ACTH secretionMendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiencyLong chain acyl-CoA dehydrogenase deficiencyAcyl-CoA dehydrogenase 9 deficiencySpirillary rat-bite feverStreptobacillary rat-bite feverOvarian dysgerminomaGynandroblastomaMalignant granulosa cell tumor of the ovaryMalignant Sertoli-Leydig cell tumor of the ovaryTheca steroid-producing cell malignant tumor of ovary, not further specifiedStreptococcal toxic-shock syndromeStaphylococcal toxic-shock syndromeAcute graft versus host diseaseChronic graft versus host diseaseOcular cicatricial pemphigoidInvasive moleGestational choriocarcinomaHydatidiform molePlacental site trophoblastic tumorSecondary pulmonary hemosiderosisIdiopathic pulmonary hemosiderosisHeiner syndromePleuropulmonary blastoma type 1Pleuropulmonary blastoma type 2Pleuropulmonary blastoma type 3Autosomal dominant Charcot-Marie-Tooth disease type 2BAutosomal dominant Charcot-Marie-Tooth disease type 2CAutosomal dominant Charcot-Marie-Tooth disease type 2DAutosomal dominant Charcot-Marie-Tooth disease type 2EAutosomal dominant Charcot-Marie-Tooth disease type 2FAutosomal dominant Charcot-Marie-Tooth disease type 2GAutosomal dominant Charcot-Marie-Tooth disease type 2IAutosomal dominant Charcot-Marie-Tooth disease type 2JAutosomal dominant Charcot-Marie-Tooth disease type 2KAutosomal dominant Charcot-Marie-Tooth disease type 2LAutosomal dominant Charcot-Marie-Tooth disease type 2A1Autosomal dominant Charcot-Marie-Tooth disease type 2A2Charcot-Marie-Tooth disease type 4ACharcot-Marie-Tooth disease type 4CCharcot-Marie-Tooth disease type 4DCharcot-Marie-Tooth disease type 4ECharcot-Marie-Tooth disease type 4FCharcot-Marie-Tooth disease type 4GCharcot-Marie-Tooth disease type 4HCharcot-Marie-Tooth disease type 4B1Charcot-Marie-Tooth disease type 4B2Benign recurrent intrahepatic cholestasis type 1Benign recurrent intrahepatic cholestasis type 2O'Sullivan-McLeod syndromeAtypical teratoid rhabdoid tumorMyxoid/round cell liposarcomaPleomorphic liposarcomaDedifferentiated liposarcomaWell-differentiated liposarcomaAdenocarcinoma of the oesophagus and oesophagogastric junctionSquamous cell carcinoma of the esophagusPerihilar cholangiocarcinomaApnea of prematurityIntermediate DEND syndromeBrill-Zinsser diseaseRelapsing epidemic typhusReticular perineuriomaSclerosing perineuriomaExtraneural perineuriomaIntraneural perineuriomaABeta amyloidosis, Dutch typeACys amyloidosisLissencephaly with cerebellar hypoplasia type ALissencephaly with cerebellar hypoplasia type BLissencephaly with cerebellar hypoplasia type CLissencephaly with cerebellar hypoplasia type DLissencephaly with cerebellar hypoplasia type ELissencephaly with cerebellar hypoplasia type FMyelodysplastic neoplasm with increased blasts type 1Myelodysplastic neoplasm with increased blasts type 2Primary plasmacytoma of the boneExtramedullary soft tissue plasmacytomaMu-heavy chain diseaseAlpha-heavy chain diseaseGamma-heavy chain diseaseHypoplastic amelogenesis imperfectaHypocalcified amelogenesis imperfectaHypomaturation amelogenesis imperfectaHypomaturation-hypoplastic amelogenesis imperfecta with taurodontismSolitary necrotic nodule of the liverFamilial pseudohyperkalemia type 1Autosomal dominant intermediate Charcot-Marie-Tooth disease type AAutosomal dominant intermediate Charcot-Marie-Tooth disease type BAutosomal dominant intermediate Charcot-Marie-Tooth disease type CAutosomal dominant intermediate Charcot-Marie-Tooth disease type DIsolated esophageal duplication cystIsolated tubular duplication of the esophagusHereditary angioedema type 1Hereditary angioedema type 2F12-related hereditary angioedema with normal C1InhAcquired angioedema type 2Acquired angioedema type 1Renin-angiotensin-aldosterone system-blocker-induced angioedemaWaterhouse-Friderichsen syndromeSemantic dementiaProgressive non-fluent aphasiaMosaic trisomy 3 syndromeNeurogenic thoracic outlet syndromeNeuroendocrine tumor of stomachIleal neuroendocrine tumorNeuroendocrine neoplasm of appendixNeuroendocrine tumor of the colonNeuroendocrine tumor of the rectumNeuroendocrine tumor of anal canalLaryngeal neuroendocrine tumorMiddle ear neuroendocrine tumorPrimary hepatic neuroendocrine carcinomaGallbladder neuroendocrine tumorCarcinoid syndromePorphyria due to ALA dehydratase deficiencyFRAXE intellectual disabilityFRAXF syndromeBathing suit ichthyosisCloverleaf skull-asphyxiating thoracic dysplasia syndromeAutosomal dominant spastic paraplegia type 3Autosomal dominant spastic paraplegia type 4Autosomal recessive spastic paraplegia type 5AAutosomal dominant spastic paraplegia type 6Autosomal dominant spastic paraplegia type 8Autosomal dominant spastic paraplegia type 10Autosomal dominant spastic paraplegia type 12Autosomal dominant spastic paraplegia type 13Autosomal recessive spastic paraplegia type 14Kjellin syndromeX-linked spastic paraplegia type 16Autosomal dominant spastic paraplegia type 17Autosomal dominant spastic paraplegia type 19Autosomal recessive spastic paraplegia type 20Autosomal recessive spastic paraplegia type 21Autosomal recessive spastic paraplegia type 23Autosomal recessive spastic paraplegia type 24Autosomal recessive spastic paraplegia type 25Autosomal recessive spastic paraplegia type 26Autosomal recessive spastic paraplegia type 27Autosomal recessive spastic paraplegia type 28Autosomal dominant spastic paraplegia type 29Autosomal spastic paraplegia type 30Autosomal dominant spastic paraplegia type 31Isolated congenital long QT syndromeMediterranean macrothrombocytopeniaCleft hard palateTransaldolase deficiencySub-cortical nodular heterotopiaSubependymal nodular heterotopiaFemale restricted epilepsy with intellectual disabilityFamilial hypofibrinogenemiaCongenital aortic valve dysplasiaEpilepsy with auditory featuresFamilial hypocalciuric hypercalcemia type 2Familial hypocalciuric hypercalcemia type 3Situs inversus totalisCongenital stromal corneal dystrophyBilateral frontoparietal polymicrogyriaUnilateral hemispheric polymicrogyriaX-linked Charcot-Marie-Tooth disease type 1X-linked Charcot-Marie-Tooth disease type 2X-linked Charcot-Marie-Tooth disease type 3X-linked Charcot-Marie-Tooth disease type 4Charcot-Marie-Tooth disease type 1ACharcot-Marie-Tooth disease type 1BCharcot-Marie-Tooth disease type 1CCharcot-Marie-Tooth disease type 1DCharcot-Marie-Tooth disease type 1FX-linked hyper-IgM syndromeHyper-IgM syndrome type 2Hyper-IgM syndrome type 3Hyper-IgM syndrome type 4Hyper-IgM syndrome type 5Autosomal recessive Charcot-Marie-Tooth disease with hoarsenessCharcot-Marie-Tooth disease type 2B2Charcot-Marie-Tooth disease type 2HMarin-Amat syndromeSpinocerebellar ataxia type 22Spinocerebellar ataxia type 23Spinocerebellar ataxia type 28Spinocerebellar ataxia type 20Spinocerebellar ataxia type 25Spinocerebellar ataxia type 26Autosomal recessive dopa-responsive dystoniaDystonia 14Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndromePorphyria cutanea tardaAfrican tick typhusFamilial isolated congenital aspleniaRare non-syndromic intellectual disabilityAnomaly of the mitral subvalvular apparatusAcute myeloid leukemia and myelodysplastic syndromes related to alkylating agentAcute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitorAcute myeloid leukemia with t(8;21)(q22;q22) translocationChronic diarrhea due to glucoamylase deficiencyCongenital sodium diarrheaTrehalase deficiencyCongenital enterocyte heparan sulfate deficiencyTropical pancreatitisAdenocarcinoma of the small intestineLeiomyosarcoma of small intestineMyopathic intestinal pseudoobstructionUnclassified intestinal pseudoobstructionNeonatal hypoxic and ischemic brain injuryVulvar intraepithelial neoplasiaInfectious epithelial keratitisNeurotrophic keratopathyHerpes simplex virus stromal keratitisCorneal endotheliitisLegius syndromeSegmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndromeNephrogenic systemic fibrosisIntractable diarrhea-choanal atresia-eye anomalies syndromeGlycogen storage disease due to muscle and heart glycogen synthase deficiencyCardiac anomalies-heterotaxy syndromeLung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndromeOvergrowth-macrocephaly-facial dysmorphism syndromeHypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndromeMicrocephaly-digital anomalies-intellectual disability syndromeMicrocephaly-intellectual disability-phalangeal and neurological anomalies syndromePellucid marginal degenerationHistiocytoid cardiomyopathySpondyloepiphyseal dysplasia with metatarsal shorteningHepatoencephalopathy due to combined oxidative phosphorylation defect type 1Asherman syndromeCytomegalovirus disease in patients with impaired cell mediated immunity deemed at riskAminoacylase 1 deficiencyLethal congenital contracture syndrome type 2Lethal congenital contracture syndrome type 3Nodular cutaneous amyloidosisMacular amyloidosisArachnoiditisX-linked intellectual disability-cerebellar hypoplasia syndromeFrank-Ter Haar syndromeLemierre syndromeMartínez-Frías syndromeMadras motor neuron diseaseAuriculocondylar syndromeMale infertility due to large-headed multiflagellar polyploid spermatozoaLeukoencephalopathy with brain stem and spinal cord involvement-high lactate syndromeHypotonia with lactic acidemia and hyperammonemiaAutism-facial port-wine stain syndromeChoanal atresiaChoanal atresia, unilateralChoanal atresia, bilateralPrimary laryngeal lymphangiomaNeonatal brainstem dysfunctionCongenital laryngeal palsyAirway infantile hemangiomaX-linked cerebral adrenoleukodystrophyAdrenomyeloneuropathyDrug reaction with eosinophilia and systemic symptomsEncephalopathy due to prosaposin deficiencyCarney triadCongenital panfollicular nevusAcute transverse myelitisIdiopathic acute transverse myelitisPerioral myoclonia with absencesEpilepsy with eyelid myocloniaMulticentric reticulohistiocytosisHypomyelination with atrophy of basal ganglia and cerebellumLeukoencephalopathy with bilateral anterior temporal lobe cystsProgressive cavitating leukoencephalopathyMicrotia-eye coloboma-imperforation of the nasolacrimal duct syndromeAutosomal recessive bestrophinopathySERKAL syndromeMicrophthalmia with brain and digit anomalies17q11.2 microduplication syndromeAl-Gazali-Dattani syndromeAutosomal recessive spastic paraplegia type 39Autosomal recessive ataxia due to ubiquinone deficiencyDietary iron overload diseaseNeuropathy with hearing impairmentCharcot-Marie-Tooth disease type 4JDistal hereditary motor neuropathy type 1Distal hereditary motor neuropathy type 2Distal hereditary motor neuropathy type 5Distal spinal muscular atrophy type 3Distal hereditary motor neuropathy, Jerash typeX-linked distal spinal muscular atrophy type 3Hereditary sensory and autonomic neuropathy type 1BHereditary sensory and autonomic neuropathy with deafness and global delayMutilating hereditary sensory neuropathy with spastic paraplegiaX-linked hereditary sensory and autonomic neuropathy with deafnessDistal hereditary motor neuropathy type 7Secondary hypoparathyroidism due to impaired parathormon secretionFamilial intraosseous vascular malformationAutosomal dominant slowed nerve conduction velocityJoubert syndromeSevere acute respiratory syndromeHyperlipidemia due to hepatic triacylglycerol lipase deficiencyBrachydactyly type B2Stapes ankylosis with broad thumbs and toesTitin-related limb-girdle muscular dystrophy R10Self-limited neonatal/infantile epilepsyLinear atrophoderma of MoulinLelis syndromeShort stature due to primary acid-labile subunit deficiencyCLOVES syndromeLow-flow priapismSyndactyly-telecanthus-anogenital and renal malformations syndromeAutosomal dominant macrothrombocytopeniaBilateral microtia-deafness-cleft palate syndromePalmoplantar keratoderma, Nagashima typeSaldino-Mainzer syndromeRHYNS syndromePrimary angiitis of the central nervous systemOrofaciodigital syndrome type 11Orofaciodigital syndrome type 9First branchial cleft anomalySecond branchial cleft anomalyThird branchial cleft anomalyFourth branchial cleft anomalyCervical dermoid cystFacial dermoid cystCommissural lip fistulaIsolated lower lip fistulaCervicofacial fibrochondromaIsolated digestive duplication cyst of the tongueExternal auditory canal aplasia/hypoplasiaEpignathusNasolacrimal duct cystPolyrrhiniaSupernumerary nostrilProboscis lateralisNasal dermoid cystNasopharyngeal teratomaNasal glial heterotopiaNasal gangliogliomaNasal encephaloceleCongenital subglottic stenosisCongenital laryngeal cystCongenital tracheal stenosisCraniofacial microsomiaOtomandibular syndromeHemifacial hyperplasiaHemifacial myohyperplasiaIsolated congenital hypoglossia/aglossiaGlossopalatine ankylosisNon-involuting congenital hemangiomaRapidly involuting congenital hemangiomaCerebrofacial arteriovenous metameric syndromeGeneralized lymphatic anomalyIsolated congenital syngnathiaNasal dorsum fistulaMedian cleft of the upper lip and maxillaParamedian nasal cleftTessier number 4 facial cleftTessier number 5 facial cleftTessier number 6 facial cleftTessier number 7 facial cleftMidline cervical cleftCleft lip and alveolusBiemond syndrome type 2Pinnae fistula or cystSubmucosal cleft palateColoboma of superior eyelidColoboma of inferior eyelidLipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathyPiepkorn dysplasiaSpondyloepimetaphyseal dysplasia, matrilin-3 typeDyssegmental dysplasia, Rolland-Desbuquois typeHereditary hypophosphatemic rickets with hypercalciuriaCongenital or early infantile CACH syndromeLate infantile CACH syndromeJuvenile or adult CACH syndromeHypospadias-hypertelorism-coloboma and deafness syndromeEpithelioid hemangioendotheliomaHereditary mixed polyposis syndromeSerrated polyposis syndromeMesoaxial synostotic syndactyly with phalangeal reductionIsolated pseudoarthrosis of the limbsCold-induced sweating syndromeKlüver-Bucy syndromeCongenital epulisCraniorhinyParoxysmal hemicraniaNeuroferritinopathyPantothenate kinase-associated neurodegenerationHARP syndromeHuntington disease-like 1Huntington disease-like 3Combined immunodeficiency with granulomas and/or autoimmunity due to RAG defectANE syndromeOculoauricular syndrome, Schorderet typeSLC39A13-related spondylodysplastic Ehlers-Danlos syndromeCongenital muscular dystrophy due to LMNA mutationGeneralized eruptive histiocytosisBenign cephalic histiocytosisJuvenile xanthogranulomaXanthoma disseminatumPapular xanthomaNecrobiotic xanthogranulomaRosaï-Dorfman diseaseIndeterminate cell histiocytosisProgressive nodular histiocytosisHereditary progressive mucinous histiocytosisHemophagocytic syndrome associated with an infectionAcquired hemophagocytic lymphohistiocytosis associated with malignant diseaseMacrophage activation syndromeEctodermal dysplasia-skin fragility syndromeLocalized dystrophic epidermolysis bullosa, acral formLocalized dystrophic epidermolysis bullosa, nails onlyEpidermolysis bullosa simplex with circinate migratory erythemaEpidermolysis bullosa simplex with pyloric atresiaLethal acantholytic erosive disorderTypical urticaria pigmentosaPlaque-form urticaria pigmentosaNodular urticaria pigmentosaSmoldering systemic mastocytosisIsolated bone marrow mastocytosisCap polyposisIsolated congenital nasal pyriform aperture stenosisIsolated congenital auditory ossicle malformationSubacute cutaneous lupus erythematosusHemoglobin Bart's fetalis syndromeMaffucci syndromeSpondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndromeSpondyloepiphyseal dysplasia-brachydactyly-speech disorder syndromeSpondyloepiphyseal dysplasia, Reardon typeSpondyloepiphyseal dysplasia tarda, Kohn typeSpondyloepiphyseal dysplasia, MacDermot typeSpondyloepiphyseal dysplasia, Byers typeCNTNAP2-related developmental and epileptic encephalopathyLeukoencephalopathy-dystonia-motor neuropathy syndromeHypotonia-cystinuria syndrome2p21 microdeletion syndromeAction myoclonus-renal failure syndromeAlveolar soft tissue sarcomaFebrile infection-related epilepsy syndromeCryptogenic late-onset epileptic spasmsFamilial mesial temporal lobe epilepsyRolandic epilepsy-speech dyspraxia syndromeRolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndromePeripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung diseasePosttransplant acute limbic encephalitisPustulosis palmaris et plantarisAcrodermatitis continua of HallopeauAtopic keratoconjunctivitisX-linked intellectual disability, Najm typeX-linked intellectual disability, Raymond typeX-linked intellectual disability, Nascimento typeX-linked cerebral-cerebellar-coloboma syndromeX-linked dominant chondrodysplasia, Chassaing-Lacombe typeX-linked intellectual disability, Cilliers typeX-linked intellectual disability, Van Esch typeX-linked intellectual disability-craniofacioskeletal syndromeX-linked intellectual disability-spastic quadriparesis syndromeHyperekplexia-epilepsy syndromeAcute myeloid leukemia and myelodysplastic syndromes related to radiationFamilial advanced sleep-phase syndromeFamilial mesial temporal lobe epilepsy with febrile seizuresWound myiasisCavitary myiasisExercise-induced hyperinsulinismPituitary resistance to thyroid hormoneMultiple epiphyseal dysplasia due to collagen 9 anomalyMultiple epiphyseal dysplasia, Beighton typeMultiple epiphyseal dysplasia, Lowry typeMultiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndromeMultiple epiphyseal dysplasia-severe proximal femoral dysplasia syndromeMultiple epiphyseal dysplasia-miniepiphyses syndromeBrachydactyly-short stature-retinitis pigmentosa syndromeMetaphyseal chondrodysplasia, Kaitila typePontocerebellar hypoplasia type 4Pontocerebellar hypoplasia type 5Pontocerebellar hypoplasia type 6Von Willebrand disease type 1Von Willebrand disease type 2Von Willebrand disease type 2AVon Willebrand disease type 2BVon Willebrand disease type 2MVon Willebrand disease type 2NVon Willebrand disease type 3Autosomal dominant otospondylomegaepiphyseal dysplasiaFASTKD2-related infantile mitochondrial encephalomyopathyBirk-Barel syndromeBazex syndromeIsolated osteopoikilosisDentinogenesis imperfecta type 2Dentinogenesis imperfecta type 3OdontochondrodysplasiaWormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasiaHereditary sick sinus syndromePorokeratotic eccrine ostial and dermal duct nevusDirofilariasisBenign partial epilepsy of infancy with complex partial seizuresBenign partial epilepsy with secondarily generalized seizures in infancyBenign infantile focal epilepsy with midline spikes and waves during sleepPhotosensitive occipital lobe epilepsyHot water reflex epilepsyAudiogenic epilepsyEating reflex epilepsyOrgasm-induced epilepsyThinking epilepsyStartle epilepsyMicturition-induced epilepsyEpilepsy with reading-induced seizuresScleromyxedemaSpondyloepimetaphyseal dysplasia-hypotrichosis syndromeSpondyloepimetaphyseal dysplasia, Bieganski typeSpondyloepimetaphyseal dysplasia-abnormal dentition syndromeNANS-CDGSpondylometaphyseal dysplasia, Golden typeAxial spondylometaphyseal dysplasiaSpondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndromeSpondylometaphyseal dysplasia, A4 type46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency46,XY gonadal dysgenesis-motor and sensory neuropathy syndromeFatal mitochondrial disease due to combined oxidative phosphorylation defect type 3H syndromeNative American myopathyHereditary cryohydrocytosis with reduced stomatinHereditary North American Indian childhood cirrhosisHyperandrogenism due to cortisone reductase deficiencySudden infant death-dysgenesis of the testes syndromeMethionine adenosyltransferase I/III deficiencyCongenital enteropathy due to enteropeptidase deficiencySeborrhea-like dermatitis with psoriasiform elementsMitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposureCongenital deficiency in alpha-fetoproteinHereditary persistence of alpha-fetoproteinDysplasia of head of femur, Meyer typeFamilial scaphocephaly syndrome, McGillivray typeAutosomal isolated thrombocytopenia with normal platelets sizeGeneralized basaloid follicular hamartoma syndromeChildhood disintegrative disorderHeart-hand syndrome, Slovenian typeMalignant peritoneal mesotheliomaPeritoneal inclusion cystPrimary peritoneal carcinomaChronic eosinophilic leukemiaMyeloid/lymphoid neoplasm associated with PDGFRA rearrangementMyeloid/lymphoid neoplasm associated with PDGFRB rearrangementMyeloid/lymphoid neoplasm associated with FGFR1 rearrangementRefractory anemia with excess blasts in transformationComposite lymphomaKahrizi syndromeCLAPO syndromeMalignant melanoma of the mucosaCernunnos-XLF deficiencyCombined immunodeficiency due to CD3gamma deficiencySusceptibility to respiratory infections associated with CD8alpha chain mutationCombined immunodeficiency due to CRAC channel dysfunctionT-B+NK+ severe combined immunodeficiency due to FOXN1 deficiencyImmunodeficiency due to CD25 deficiencyThymoma-hypogammaglobulinemia syndromeImmunoglobulin heavy chain deficiencyTransient hypogammaglobulinemia of infancyRecurrent infections due to specific granule deficiencyImmunodeficiency due to a classical component pathway complement deficiencyImmunodeficiency due to a late component of complement deficiencyT-B+NK+ severe combined immunodeficiency due to IL-7Ralpha deficiencyT-B+NK+ severe combined immunodeficiency due to CD45 deficiencyT-B+NK+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta deficiencyAutosomal recessive centronuclear myopathyAutosomal dominant centronuclear myopathyPrimary CD59 deficiencyRecurrent Neisseria infections due to factor D deficiencySevere hemophilia BModerate hemophilia BMild hemophilia BSevere hemophilia AModerate hemophilia AMild hemophilia AIsolated rectal duplicationSevere congenital nemaline myopathyIntermediate nemaline myopathyTypical nemaline myopathyChildhood-onset nemaline myopathyAdult-onset nemaline myopathyMuscle filaminopathyX-linked spastic paraplegia type 34Autosomal dominant spastic paraplegia type 37Autosomal dominant spastic paraplegia type 38Autosomal recessive spastic paraplegia type 32Autosomal recessive spastic paraplegia type 35Limbal stem cell deficiencyLissencephaly due to TUBA1A mutationIdiopathic bilateral vestibulopathyMetabolic myopathy due to lactate transporter defectParkinsonian-pyramidal syndromeDiffuse panbronchiolitisMicrocephaly-polymicrogyria-corpus callosum agenesis syndromeShort stature-delayed bone age due to thyroid hormone metabolism deficiencyMale infertility due to globozoospermiaAmish infantile epilepsy syndromeCutis laxa-Marfanoid syndromeWhite sponge nevus6q16 microdeletion syndromeAmelogenesis imperfecta-gingival hyperplasia syndromeCraniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndromeBlindness-scoliosis-arachnodactyly syndromePolyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndromeMEDNIK syndromeAutosomal dominant spastic paraplegia type 42Spondyloepimetaphyseal dysplasia, aggrecan typeRenal pseudohypoaldosteronism type 1Generalized pseudohypoaldosteronism type 1Cap myopathyCylindrical spirals myopathyMyopathy with hexagonally cross-linked tubular arraysTrisomy 10p syndromePrader-Willi syndrome due to paternal deletion of 15q11q13 type 1Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2Prader-Willi syndrome due to translocationPrader-Willi syndrome due to imprinting mutationBleeding disorder in hemophilia A carriersBleeding disorder in hemophilia B carriersArginine vasopressin deficiencyModerate multiminicore disease with hand involvementAntenatal multiminicore disease with arthrogryposis multiplex congenita8q22.1 microdeletion syndromeReticulate acropigmentation of KitamuraIsolated sternocostoclavicular hyperostosisUndifferentiated embryonal sarcoma of the liverAcute lung injuryÅland Islands eye diseaseUV-sensitive syndromeInflammatory myofibroblastic tumorAromatase excess syndromeSmith-McCort dysplasiaSyndromic microphthalmia type 5Osteosclerosis-developmental delay-craniosynostosis syndromeCongenital vertical talusOsteopetrosis-hypogammaglobulinemia syndromeHemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutationDistal myopathy with anterior tibial onsetX-linked myopathy with postural muscle atrophyHereditary myopathy with early respiratory failureAutosomal dominant non-syndromic intellectual disabilityWound botulismInfant botulismIntestinal botulismAdult intestinal botulismDursun syndromeInterstitial lung disease-brain calcification syndromePerry syndromeFolliculotropic mycosis fungoidesLocalized pagetoid reticulosisPrimary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphomaPrimary cutaneous aggressive epidermotropic CD8+ T-cell lymphomaPrimary cutaneous gamma/delta-positive T-cell lymphomaPrimary cutaneous marginal zone B-cell lymphomaPrimary cutaneous follicle center lymphomaPrimary cutaneous diffuse large B-cell lymphoma, leg typeObesity due to congenital leptin resistanceObesity due to leptin receptor gene deficiencyTrue unicornuate uterusPseudounicornuate uterusDidelphys uterusBicervical bicornuate uterus and blind hemivaginaBicervical bicornuate uterus with patent cervix and vaginaUnicervical bicornuate uterusComplete septate uterusPartial septate uterusUterine hypoplasiaAbsence of uterine bodyUterine cervical aplasia and agenesisSeptate vaginaLongitudinal vaginal septumTransverse vaginal septumFamilial juvenile hypertrophy of the breastSupernumerary breastsIsolated congenital breast hypoplasia/aplasiaEmbryonal carcinomaPolyembryomaMixed germ cell tumorBenign tumor of fallopian tubesMalignant tumor of fallopian tubesVaginal carcinomaPhyllodes tumor of the breastGiant adenofibroma of the breastPaget disease of the nippleFamilial HyperalphalipoproteinemiaMYH9-related syndromic thrombocytopeniaExtragonadal germinomaHyper-IgM syndrome with susceptibility to opportunistic infectionsHyper-IgM syndrome without susceptibility to opportunistic infectionsRecurrent infections associated with rare immunoglobulin isotypes deficiencyHermansky-Pudlak syndrome due to AP-3 deficiencyInfantile LAD-like disease due to RAC2 deficiencyCushing syndrome due to bilateral macronodular adrenocortical diseaseFamilial isolated hypoparathyroidism due to impaired PTH secretionPulmonary capillary hemangiomatosisNelson syndromeCorticosteroid-binding globulin deficiencyLedderhose diseaseCalcifying aponeurotic fibromaInfantile digital fibromatosisFamilial multiple lipomatosisFamilial angiolipomatosisHarlequin syndromeHereditary hypercarotenemia and vitamin A deficiencyCongenital microgastriaCongenital isolated ACTH deficiencyLate-onset isolated ACTH deficiencyIsolated cleft lipCleft lip/palateTetragametic chimerism syndromeFamilial clubfoot with or without associated lower limb anomalies15q13.3 microdeletion syndromeEndophthalmitisIsolated autosomal dominant hypomagnesemia, Glaudemans typeCongenital myopathy, Paradas typeEndocrine-cerebro-osteodysplasia syndromePancreatic insufficiency-anemia-hyperostosis syndromeBAG3-related myofibrillar myopathyEAST syndromeThiamine-responsive encephalopathyPLA2G6-related neurodegeneration, adult-onsetCerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathyAtypical autismIsolated cerebellar vermis hypoplasiaIsolated congenital microcephalyIsolated encephaloceleImmunodeficiency with factor I anomalyImmunodeficiency with factor H anomalyInfantile Krabbe diseaseLate-infantile/juvenile Krabbe diseaseAdult Krabbe diseaseCystadenoma of childhoodGonadoblastomaMalignant germ cell tumor of the vaginaVulvovaginal rhabdomyosarcomaMalignant non-dysgerminomatous germ cell tumor of ovarySymptomatic form of muscular dystrophy of Duchenne and Becker in female carriersAnoctamin-5-related limb-girdle muscular dystrophy R12Fukutin-related limb-girdle muscular dystrophy R13POMT2-related limb-girdle muscular dystrophy R14POMGNT1-related limb-girdle muscular dystrophy R15Immune-mediated necrotizing myopathyOverlap myositisRippling muscle disease with myasthenia gravisAutosomal recessive lower motor neuron disease with childhood onsetAdult polyglucosan body diseaseNeurolymphomatosisSubacute inflammatory demyelinating polyneuropathyIsolated asymptomatic elevation of creatine phosphokinaseViral myositisBacterial myositisFungal myositisBilateral parasagittal parieto-occipital polymicrogyriaBilateral frontal polymicrogyriaBilateral generalized polymicrogyriaSpinocerebellar ataxia type 29Herpetiform pemphigusNon-paraneoplastic sensory ganglionopathyParaneoplastic sensory ganglionopathyPolyneuropathy associated with IgM monoclonal gammopathyAutosomal dominant adult-onset proximal spinal muscular atrophyDYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophyMECP2-related severe neonatal encephalopathyIsolated ocular Stickler syndromeHypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiencyBrain-lung-thyroid syndromeIsolated childhood apraxia of speechExtraskeletal myxoid chondrosarcomaIdiopathic copper-associated cirrhosisCone dystrophy with supernormal rod responseIRVAN syndromeAutosomal spastic paraplegia type 18Idiopathic uveal effusion syndromePhacoanaphylactic uveitisSolitary rectal ulcer syndromeEpisodic ataxia type 6Episodic ataxia type 7Benign nocturnal alternating hemiplegia of childhoodIRIDA syndromeIntermediate osteopetrosisSterile multifocal osteomyelitis with periostitis and pustulosisCongenital alveolar capillary dysplasiaUrocanic aciduriaLeukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndromePulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndromeInherited congenital spastic tetraplegiaLethal polymalformative syndrome, Boissel typeAdult hepatocellular carcinomaCongenital lethal myopathy, Compton-North typeMal de débarquementMacrocephaly-intellectual disability-autism syndromeMyoclonic dystonia 15Dystonia 16Congenital temporomandibular joint ankylosisSpindle cell hemangiomaSpinocerebellar ataxia type 30Episodic ataxia type 5Adenocarcinoma of ovaryMalignant mixed Müllerian tumor of the ovaryHereditary site-specific ovarian cancer syndromeRare adenocarcinoma of the breastMetaplastic carcinoma of the breastSalivary gland type cancer of the breastAdenosarcoma of the corpus uteriCarcinofibroma of the corpus uteriCarcinosarcoma of the corpus uteriRhabdomyosarcoma of the corpus uteriLeiomyosarcoma of the corpus uteriPrimitive neuroectodermal tumor of the corpus uteriEndometrial stromal sarcomaSquamous cell carcinoma of the corpus uteriUndifferentiated carcinoma of the corpus uteriSerous carcinoma of the corpus uteriHigh-grade neuroendocrine carcinoma of the corpus uteriLow-grade neuroendocrine tumor of the corpus uteriTransitional cell carcinoma of the corpus uteriMalignant germ cell tumor of the corpus uteriSquamous cell carcinoma of the cervix uteriAdenocarcinoma of the cervix uteriHigh-grade neuroendocrine carcinoma of the cervix uteriCarcinosarcoma of the cervix uteriAdenosarcoma of the cervix uteriRhabdomyosarcoma of the cervix uteriLeiomyosarcoma of the cervix uteriPrimitive neuroectodermal tumor of the cervix uteriAdenoid cystic carcinoma of the cervix uteriAdenoid basal carcinoma of the cervix uteriGlassy cell carcinoma of the cervix uteriMalignant germ cell tumor of the cervix uteriPrelingual non-syndromic genetic deafnessPostlingual non-syndromic genetic deafnessCongenitally corrected transposition of the great arteriesIsolated congenitally uncorrected transposition of the great arteriesCongenitally uncorrected transposition of the great arteries with cardiac malformationOsteogenesis imperfecta type 1Osteogenesis imperfecta type 2Osteogenesis imperfecta type 3Osteogenesis imperfecta type 4Osteogenesis imperfecta type 5Classic pantothenate kinase-associated neurodegenerationAtypical pantothenate kinase-associated neurodegenerationNiemann-Pick disease type C, severe perinatal formNiemann-Pick disease type C, severe early infantile neurologic onsetNiemann-Pick disease type C, late infantile neurologic onsetNiemann-Pick disease type C, juvenile neurologic onsetNiemann-Pick disease type C, adult neurologic onsetAutosomal dominant dystrophic epidermolysis bullosa, Pasini typeSegmental venous malformationSpinocerebellar ataxia type 31Zechi-Ceide syndromeMicrocephaly-facio-cardio-skeletal syndrome, Hadziselimovic typeMale infertility with normal virilization due to meiosis defectAutosomal recessive intermediate Charcot-Marie-Tooth disease type AIsolated nail clubbing5-fluorouracil poisoningPouchitisPulmonary fungal infections in patients deemed at riskMucopolysaccharidosis type 2, severe formMucopolysaccharidosis type 2, attenuated formNMDA receptor encephalitisProgressive multifocal leukoencephalopathyBNAR syndromeCutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndromeREN-related autosomal dominant tubulointerstitial kidney diseaseRIN2 syndrome17q21.31 microduplication syndrome19q13.11 microdeletion syndromeAcute infantile liver failure due to synthesis defect of mtDNA-encoded proteinsMicroduplication Xp11.22p11.23 syndromeNeurodegenerative syndrome due to cerebral folate transport deficiency17p13.3 microduplication syndromeCombined immunodeficiency due to DOCK8 deficiencyProgressive polyneuropathy with bilateral striatal necrosisCongenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervationHereditary hypotrichosis with recurrent skin vesiclesHereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiencyPulmonary interstitial glycogenosisNeuroendocrine cell hyperplasia of infancyNeonatal acute respiratory distress syndrome due to SP-B deficiencyChronic respiratory distress with surfactant metabolism deficiencySensorineural deafness with dilated cardiomyopathyInherited isolated arrhythmogenic cardiomyopathyXeroderma pigmentosum-Cockayne syndrome complexSemilobar holoprosencephalyDiffuse cutaneous systemic sclerosisLimited cutaneous systemic sclerosisLimited systemic sclerosisQuebec platelet disorderMacrothrombocytopenia with mitral valve insufficiencyAttenuated familial adenomatous polyposisLaron syndrome with immunodeficiencyJoubert syndrome with ocular anomalyJoubert syndrome with renal defectRothmund-Thomson syndrome type 1Rothmund-Thomson syndrome type 2Hereditary sclerosing poikiloderma, Weary typeHereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndromePoikiloderma with neutropeniaAcrocephalopolydactylyFamilial cerebral cavernous malformationMarchiafava-Bignami diseaseCombined hyperactive dysfunction syndrome of the cranial nervesHemifacial spasmTrigeminal neuralgiaGlossopharyngeal neuralgiaGerstmann syndromePseudoaminopterin syndromeFowler vasculopathyCombined immunodeficiency with facio-oculo-skeletal anomaliesConfetti-like macular atrophyCutis laxa with severe pulmonary, gastrointestinal and urinary anomaliesTFR2-related hemochromatosisSporadic infantile bilateral striatal necrosisFamilial infantile bilateral striatal necrosisHypothyroidism due to deficient transcription factors involved in pituitary development or functionCongenital hypothyroidism due to maternal intake of antithyroid drugsGenetic transient congenital hypothyroidismMultiple system atrophy, cerebellar typeFundus albipunctatusToxic oil syndromeAutosomal recessive optic atrophy, OPA7 typeAutoimmune polyendocrinopathy type 3Autoimmune polyendocrinopathy type 4Idiopathic CD4 lymphocytopeniaT-B+NK+ severe combined immunodeficiency due to CORO1A deficiencyProgressive sensorineural hearing loss-hypertrophic cardiomyopathy syndromeAnal fistulaHughes-Stovin syndromeFusariosisCoccidioidomycosisIdiopathic ventricular fibrillationMarburg acute multiple sclerosisBaló concentric sclerosisAutosomal dominant striatal neurodegenerationAutosomal dominant Charcot-Marie-Tooth disease type 2NAutosomal dominant Charcot-Marie-Tooth disease type 2MPatent ductus arteriosus-bicuspid aortic valve-hand anomalies syndromeLate-onset focal dermal elastosisLinear focal elastosisElastodermaElastofibroma dorsiAcquired pseudoxanthoma elasticumElastomaPapular elastorrhexisPrimary anetodermaFamilial anetodermaAcquired cutis laxaWhite fibrous papulosis of the neckPseudoxanthoma elasticum-like papillary dermal elastolysisMid-dermal elastolysisCarnitine palmitoyl transferase II deficiency, myopathic formCarnitine palmitoyl transferase II deficiency, severe infantile formCarnitine palmitoyl transferase II deficiency, neonatal formCLN1 diseaseCLN10 diseaseCLN4 diseaseCLN3 diseaseCLN2 diseaseCLN8 diseaseCLN5 diseaseCLN6 diseaseCLN7 diseaseFoodborne botulismCharcot-Marie-Tooth disease type 2B5Virus-associated trichodysplasia spinulosa5q14.3 microdeletion syndromeSpondylo-megaepiphyseal-metaphyseal dysplasiaFrontonasal dysplasia-alopecia-genital anomalies syndromePtosis-upper ocular movement limitation-absence of lacrimal punctum syndrome8q12 microduplication syndrome2q23.1 microdeletion syndromeCraniofacial dysmorphism-skeletal anomalies-intellectual disability syndromeCardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome5q35 microduplication syndromeGATA2 deficiency spectrumSyndromic multisystem autoimmune disease due to Itch deficiencyCongenital generalized lipodystrophy type 4Non-syndromic agammaglobulinemiaToxin-mediated infectious botulismClassical-like Ehlers-Danlos syndrome type 1Vascular-like classical Ehlers-Danlos syndromeCardiac-valvular Ehlers-Danlos syndromeEhlers-Danlos/osteogenesis imperfecta syndromeCongenital trigeminal anesthesiaErythema palmare hereditariumFamilial generalized lentiginosisHigh-grade dysplasia in patients with Barrett esophagusRhabdoid tumor predisposition syndromeDrug-induced lupus erythematosusBeckwith-Wiedemann syndrome due to imprinting defect of 11p15Beckwith-Wiedemann syndrome due to CDKN1C mutationBeckwith-Wiedemann syndrome due to 11p15 microdeletionBeckwith-Wiedemann syndrome due to 11p15 translocation/inversionSilver-Russell syndrome due to 7p11.2p13 microduplicationSilver-Russell syndrome due to an imprinting defect of 11p15Silver-Russell syndrome due to 11p15 microduplicationSilver-Russell syndrome due to maternal uniparental disomy of chromosome 11Atypical/leaky severe combined immunodeficiency due to partial RAG defectFamilial cerebral saccular aneurysmUsher syndrome type 1Usher syndrome type 2Usher syndrome type 3Common variable immunodeficiency without known genetic defectBeta-thalassemia majorBeta-thalassemia intermediaUnstable beta globin chain variant diseaseDelta-beta-thalassemiaHemoglobin C-beta-thalassemia syndromeHemoglobin E-beta-thalassemia syndromeBeta-thalassemia-trichothiodystrophy syndromeBeta-thalassemia-X-linked thrombocytopenia syndromeAlpha-thalassemia-myelodysplastic syndromePharyngeal-cervical-brachial variant of Guillain-Barré syndromeParaparetic variant of Guillain-Barré syndromeAcute pure sensory neuropathyAcute pandysautonomiaAcute sensory ataxic neuropathyHermansky-Pudlak syndrome due to BLOC-3 deficiencyHermansky-Pudlak syndrome due to BLOC-2 deficiencyHermansky-Pudlak syndrome due to BLOC-1 deficiencyHermansky-Pudlak syndrome type 8Late-onset localized junctional epidermolysis bullosa-intellectual disability syndromeAutosomal dominant generalized dystrophic epidermolysis bullosaCongenital erosive and vesicular dermatosisPrimary unilateral adrenal hyperplasiaAdrenocortical carcinoma with pure aldosterone hypersecretionEctopic aldosterone-producing tumorIsolated growth hormone deficiency type IAIsolated growth hormone deficiency type IBIsolated growth hormone deficiency type IIIsolated growth hormone deficiency type IIINon-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndromeMicrocornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndromeEpibulbar lipodermoid-preauricular appendage-polythelia syndromeAApoAII amyloidosisInfundibulo-neurohypophysitisSevere X-linked mitochondrial encephalomyopathy15q11q13 microduplication syndromeInfantile dystonia-parkinsonismSLC35A1-CDGHypohidrotic ectodermal dysplasiaFamilial hypercholanemiaCombined immunodeficiency due to CD27 deficiencyAtypical hypotonia-cystinuria syndromeChuvash erythrocytosisImmune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndromeFamilial clubfoot due to 17q23.1q23.2 microduplicationHyperphenylalaninemia due to tetrahydrobiopterin deficiencyIgG4-related mesenteritisPrimary orthostatic tremorIleal pouch anal anastomosis related faecal incontinenceIdiopathic intracranial hypertensionMegacystis-megaureter syndromePrimary megaureter, adult-onset formCongenital primary megaureter, obstructed formCongenital primary megaureter, refluxing formCongenital primary megaureter, nonrefluxing and unobstructed formIsolated congenital hypogonadotropic hypogonadismIsolated thyrotropin-releasing hormone deficiencyNeonatal iodine exposureFamilial congenital mirror movementsMammary-digital-nail syndrome4q21 microdeletion syndromeGlaucoma secondary to spherophakia/ectopia lentis and megalocorneaPtosis-syndactyly-learning difficulties syndrome1q44 microdeletion syndromeClassic progressive supranuclear palsy syndromeProgressive supranuclear palsy-predominant parkinsonism syndromeProgressive supranuclear palsy-pure akinesia with gait freezing syndromeProgressive supranuclear palsy-corticobasal syndromeProgressive supranuclear palsy-progressive non-fluent aphasia syndromeNijmegen breakage syndrome-like disorderDimethylglycine dehydrogenase deficiencyAcute fatty liver of pregnancyHELLP syndromeDe novo thrombotic microangiopathy after kidney transplantationBiliary atresia with splenic malformation syndromeDominant hypophosphatemia with nephrolithiasis or osteoporosisRFT1-CDGInfantile mercury poisoningProgressive cerebello-cerebral atrophyCollecting duct carcinomaSporadic adult-onset ataxia of unknown etiologySuperficial siderosisInhalational anthraxHyperphosphatasia-intellectual disability syndromeGeneralized pustular psoriasisAutosomal recessive secondary erythrocytosis not associated with VHL geneAutosomal dominant secondary erythrocytosisPrimary ciliary dyskinesia-retinitis pigmentosa syndromeCitrullinemia type IAcute neonatal citrullinemia type ILate-onset citrullinemia type ICitrullinemia type IINeonatal intrahepatic cholestasis due to citrin deficiencyJuvenile primary lateral sclerosisPerinatal lethal hypophosphatasiaPrenatal benign hypophosphatasiaInfantile hypophosphatasiaChildhood-onset hypophosphatasiaAdult hypophosphatasiaOdontohypophosphatasiaRetinal vasculopathy with cerebral leukoencephalopathy and systemic manifestationsMultiple endocrine neoplasia type 2AMultiple endocrine neoplasia type 2BInflammatory myopathy with abundant macrophagesIdiopathic eosinophilic myositisLipoblastomaMüllerian aplasia and hyperandrogenismMayer-Rokitansky-Küster-Hauser syndrome type 1FTH1-related iron overloadJuvenile cataract-microcornea-renal glucosuria syndromeMUTYH-related polyposisAutosomal recessive ataxia due to PEX10 deficiencyEctodermal dysplasia-pili torti-cutaneous syndactyly syndromeEctodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndromeOccult macular dystrophyNLRP12-associated hereditary periodic fever syndromeJuvenile Huntington diseaseIsolated delta-storage pool diseaseFamilial hypodysfibrinogenemiaLogopenic progressive aphasiaIsolated aniridiaAutosomal dominant optic atrophy and peripheral neuropathyPolymicrogyria with optic nerve hypoplasiaAICA-ribosiduriaAutosomal recessive Stickler syndrome1q21.1 microdeletion syndrome1q21.1 microduplication syndrome1q41q42 microdeletion syndromePaternal uniparental disomy of chromosome 1 syndromeMaternal uniparental disomy of chromosome 1 syndrome2q31.1 microdeletion syndrome2q32q33 deletion syndromeSATB2-associated syndrome due to a chromosomal rearrangement3q29 microduplication syndromeRing chromosome 5 syndrome6p22 microdeletion syndrome6q25.2q25.3 microdeletion syndrome7q31 microdeletion syndrome8p11.2 deletion syndrome8p23.1 microdeletion syndrome8p23.1 duplication syndromeFamilial osteochondritis dissecansFamilial hyperaldosteronism type IIIMicrophthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndromeAutosomal dominant spastic ataxia type 1Benign concentric annular macular dystrophyParietal foramina with clavicular hypoplasiaPigmented paravenous retinochoroidal atrophyInfantile onset panniculitis with uveitis and systemic granulomatosisIdiopathic recurrent pericarditisDrug-induced vasculitisUnclassified vasculitisUnexplained long-lasting fever/inflammatory syndromeAtaxia-telangiectasia-like disorderSickle cell-beta-thalassemia diseaseSickle cell S-C diseaseSickle cell S-D Punjab diseaseSickle cell S-E diseaseHereditary persistence of fetal hemoglobin-sickle cell disease syndromeCK syndromeLocalized junctional epidermolysis bullosa46,XY partial gonadal dysgenesisDistal arthrogryposis type 10Hyperzincemia and hypercalprotectinemiaGliosarcomaGiant cell glioblastomaGliomatosis cerebriAstrocytoma grade 3Astrocytoma grade 2Protoplasmic astrocytomaFibrillary astrocytomaGemistocytic astrocytomaPleomorphic xanthoastrocytomaPilocytic astrocytomaPilomyxoid astrocytomaSubependymal giant cell astrocytomaPituicytomaOligodendroglioma grade 2Oligodendroglioma grade 3EpendymomaSubependymomaMyxopapillary ependymomaAnaplastic ependymomaOligoastrocytoma, dual genotypeAnaplastic oligoastrocytoma, dual genotypeAngiocentric gliomaChordoid gliomaAstroblastomaAnaplastic/large cell medulloblastomaMedulloblastoma with extensive nodularityDesmoplastic/nodular medulloblastomaClassic medulloblastomaGanglioneuroblastomaEpendymoblastomaMedulloepithelioma of the central nervous systemChoroid plexus carcinomaAtypical papilloma of choroid plexusPineoblastomaPineocytomaPapillary tumor of the pineal regionPineal parenchymal tumor of intermediate differentiationExtraventricular neurocytomaCerebellar liponeurocytomaGangliocytomaDesmoplastic infantile astrocytoma/gangliogliomaDysembryoplastic neuroepithelial tumorGangliogliomaAnaplastic gangliogliomaPapillary glioneuronal tumorRosette-forming glioneuronal tumorGanglioneuromaYolk sac tumor of central nervous systemChoriocarcinoma of the central nervous systemTeratoma of the central nervous systemMixed germ cell tumor of central nervous systemDiffuse leptomeningeal melanocytosisMeningeal melanocytomaPrimary melanoma of the central nervous systemHemangioblastomaMalignant peripheral nerve sheath tumor with perineurial differentiationBenign schwannomaVestibular schwannomaNeurofibromaConstitutional mismatch repair deficiency syndromeMelanoma and neural system tumor syndromeMalignant triton tumorAutosomal recessive intermediate Charcot-Marie-Tooth disease type BAutosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome19p13.12 microdeletion syndromeDistal 7q11.23 microdeletion syndromePlectin-related limb-girdle muscular dystrophy R17Linear lichen planusActinic lichen planusAnnular atrophic lichen planusAnnular lichen planusAtrophic lichen planusLichen planus pigmentosusLichen planus pemphigoidesFrontal fibrosing alopeciaInhalational botulismIatrogenic botulismTemple syndromeKagami-Ogata syndromeTemple syndrome due to paternal 14q32.2 microdeletionKagami-Ogata syndrome due to maternal 14q32.2 microdeletionTemple syndrome due to paternal 14q32.2 hypomethylationKagami-Ogata syndrome due to maternal 14q32.2 hypermethylationComplete hydatidiform molePartial hydatidiform moleEpithelioid trophoblastic tumorGenetic hyperferritinemia without iron overloadFaisalabad histiocytosisFamilial sinus histiocytosis with massive lymphadenopathyPigmented hypertrichosis with insulin-dependent diabetes mellitus syndromeMitochondrial DNA-related dystoniaPure mitochondrial myopathyLethal infantile mitochondrial myopathyMitochondrial myopathy with reversible cytochrome C oxidase deficiencyTK2-related mitochondrial DNA maintenance defect, myopathic formSpinocerebellar ataxia with epilepsyAutosomal recessive progressive external ophthalmoplegiaAutosomal dominant progressive external ophthalmoplegiaDeafness-encephaloneuropathy-obesity-valvulopathy syndromeRenal tubulopathy-encephalopathy-liver failure syndromeIsolated cytochrome C oxidase deficiencyIsolated ATP synthase deficiencyCombined oxidative phosphorylation defect type 2Combined oxidative phosphorylation defect type 4Combined oxidative phosphorylation defect type 7Adult-onset autosomal recessive sideroblastic anemiaPyruvate dehydrogenase E1-beta deficiencyPyruvate dehydrogenase E3-binding protein deficiencyMitochondrial DNA-associated Leigh syndromeNavajo neurohepatopathyMitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathyLeigh syndrome with leukodystrophyLeigh syndrome with nephrotic syndromeAutosomal recessive sideroblastic anemiaDistal 7q11.23 microduplication syndromeMonosomy 9p syndrome14q11.2 microdeletion syndromeFOXG1 syndrome due to 14q12 microdeletion15q11.2 microdeletion syndromeCleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletionProximal 16p11.2 microdeletion syndrome16p11.2p12.2 microduplication syndrome16p11.2p12.2 microdeletion syndromeDistal 16p11.2 microdeletion syndrome14q11.2 microduplication syndrome16p13.11 microdeletion syndrome16p13.11 microduplication syndrome16q24.3 microdeletion syndromeDistal 17p13.3 microdeletion syndrome17q12 microdeletion syndrome17q12 microduplication syndrome17q23.1q23.2 microdeletion syndromeTrisomy 17p syndrome20p12.3 microdeletion syndromePaternal 20q13.2q13.3 microdeletion syndrome20q13.33 microdeletion syndromeTrisomy 20p syndrome21q22.11q22.12 microdeletion syndromeDistal 22q11.2 microdeletion syndromeDistal 22q11.2 microduplication syndromeTrisomy 1q syndrome2p15p16.1 microdeletion syndromeXp21 deletion syndromeXq27.3q28 duplication syndromeKleefstra syndromeAtypical Norrie disease due to Xp11.3 microdeletionMaternal uniparental disomy of chromosome X syndromePaternal uniparental disomy of chromosome X syndromeRing chromosome Y syndrome49,XXXYY syndromeMowat-Wilson syndrome due to monosomy 2q22Mowat-Wilson syndrome due to a ZEB2 point mutation5q22 microdeletion syndromeAlagille syndrome due to 20p12 microdeletionAlagille syndrome due to a JAG1 point mutationAlagille syndrome due to a NOTCH2 point mutationOkihiro syndrome due to 20q13 microdeletionOkihiro syndrome due to a point mutationKleefstra syndrome due to a point mutationGlycogen storage disease with severe cardiomyopathy due to glycogenin deficiencyThymoma type AThymoma type BThymoma type ABWell-differentiated thymic neuroendocrine carcinomaModerately-differentiated thymic neuroendocrine carcinomaPoorly differentiated thymic neuroendocrine carcinomaMRCS syndromePostcardiotomy right ventricular failureInfantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndromeAngiosarcomaBartter syndrome with hypocalcemiaNevus of OtaNevus of ItoCongenital smooth muscle hamartomaCongenital hyperinsulinism due to HNF4A deficiencyHyperinsulinism due to INSR deficiencyCHST3-related skeletal dysplasiaFuchs heterochromic iridocyclitisSpondyloepimetaphyseal dysplasia, Maroteaux typeCOG5-CDGDPM3-CDGCOG4-CDGCOG1-CDGProgressive myoclonic epilepsy type 3Acute necrotizing encephalopathy of childhoodAcral peeling skin syndromeGeneralized peeling skin syndromePeeling skin syndrome type APeeling skin syndrome type BFamilial multiple meningiomaNK-cell enteropathy14q22q23 microdeletion syndromeTrisomy 8p syndromeGlycogen storage disease due to liver phosphorylase kinase deficiencyHereditary pulmonary alveolar proteinosisCongenital chylothoraxIsolated pulmonary capillaritisDrug or radiation exposure-related interstitial lung diseaseRAS-associated autoimmune leukoproliferative diseaseSpheroid body myopathyIntraocular medulloepitheliomaClassic maple syrup urine diseaseIntermediate maple syrup urine diseaseIntermittent maple syrup urine diseaseThiamine-responsive maple syrup urine diseaseMycophenolate mofetil embryopathyDYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletionComplication in hemodialysisHereditary isolated thrombocytopenia with normal platelets sizeOpen iniencephalyClosed iniencephalyIsolated posterior meningoceleCranial meningoceleOccipital encephaloceleParietal encephaloceleBasal encephaloceleLipomyelomeningocelePrimary tethered cord syndromeNeurenteric cystIsolated amyeliaArnold-Chiari malformation type IIsolated arhinencephalyBilateral polymicrogyriaUnilateral polymicrogyriaUnilateral focal polymicrogyriaIsolated focal cortical dysplasia type IIsolated focal cortical dysplasia type IaIsolated focal cortical dysplasia type IbIsolated focal cortical dysplasia type IcIsolated focal cortical dysplasia type IIIsolated focal cortical dysplasia type IIaIsolated focal cortical dysplasia type IIbGlioependymal/ependymal cystIsolated cerebellar vermis agenesisIsolated total cerebellar vermis agenesisIsolated partial cerebellar vermis agenesisIsolated unilateral hemispheric cerebellar hypoplasia/dysplasiaIsolated bilateral hemispheric cerebellar hypoplasiaPontine tegmental cap dysplasiaCongenital communicating hydrocephalusCongenital non-communicating hydrocephalusHereditary ATTR amyloidosisAutoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiencyDianzani autoimmune lymphoproliferative diseaseL1 syndromePreeclampsiaLysosomal acid lipase deficiencyIdiopathic pulmonary arterial hypertensionHeritable pulmonary arterial hypertensionBehavioral variant of frontotemporal dementiaFrontotemporal dementia with motor neuron diseaseHemolytic disease of the newborn with Kell alloimmunizationBile acid CoA ligase deficiency and defective amidationMalignant epithelial tumor of salivary glandsBenign epithelial tumor of salivary glandsMultiple endocrine neoplasia type 4Idiopathic recurrent stuporSpinocerebellar ataxia type 32Spinocerebellar ataxia type 35Spinocerebellar ataxia type 36Mucopolysaccharidosis type 6, rapidly progressingMucopolysaccharidosis type 6, slowly progressingNon-syndromic male infertility due to sperm motility disorderMachado-Joseph disease type 1Machado-Joseph disease type 2Machado-Joseph disease type 3Hemihyperplasia-multiple lipomatosis syndromeFamilial multinodular goiterHyperbiliverdinemia10q22.3q23.3 microdeletion syndrome10q22.3q23.3 microduplication syndromeHypnic headacheOgden syndromeLower motor neuron syndrome with late-adult onsetHyperinsulinism due to UCP2 deficiencyAutosomal dominant hyperinsulinism due to SUR1 deficiencyAutosomal dominant hyperinsulinism due to Kir6.2 deficiencyDiazoxide-resistant focal hyperinsulinism due to SUR1 deficiencyDiazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiencyNon-insulinoma pancreatogenous hypoglycemia syndromeSporadic pheochromocytoma/secreting paragangliomaSymptomatic form of Coffin-Lowry syndrome in female carriersSpasmus nutansAcute endophthalmitisChronic endophthalmitisToxic maculopathy due to antimalarial drugsPrimary oculocerebral lymphomaIntermediate uveitisInfectious posterior uveitisInfectious anterior uveitisInfectious panuveitisParaneoplastic uveitisMitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiencyHereditary neutrophiliaPostorgasmic illness syndromeCalciphylaxisCalciphylaxis cutisVisceral calciphylaxisALG11-CDGComplement component 3 deficiencyCombined immunodeficiency due to LCK deficiencyMethylmalonic aciduria due to transcobalamin receptor defectSeptopreoptic holoprosencephalyMicroform holoprosencephalyLaryngotracheoesophageal cleft type 0Pelizaeus-Merzbacher disease, connatal formPelizaeus-Merzbacher disease, classic formPelizaeus-Merzbacher disease, transitional formPelizaeus-Merzbacher disease in female carriersNull syndromePelizaeus-Merzbacher-like diseasePelizaeus-Merzbacher-like disease due to GJC2 mutationPelizaeus-Merzbacher-like disease due to HSPD1 mutationPelizaeus-Merzbacher-like disease due to AIMP1 mutationAutoimmune pancreatitis type 1Autoimmune pancreatitis type 2Distal deletion 12p syndromeAlpha-dystroglycan-related limb-girdle muscular dystrophy R16PLIN1-related familial partial lipodystrophyAutosomal semi-dominant severe lipodystrophic laminopathyErythropoietic uroporphyria associated with myeloid malignancyRecessive intellectual disability-motor dysfunction-multiple joint contractures syndromeFamilial Alzheimer-like prion diseaseFamilial omphalocele syndrome with facial dysmorphismFamilial steroid-resistant nephrotic syndrome with sensorineural deafnessFatal infantile hypertonic myofibrillar myopathyWarsaw breakage syndromeNestor-Guillermo progeria syndromeChondrodysplasia with joint dislocations, gPAPP typeHereditary sensorimotor neuropathy with hyperelastic skinLow oxygen affinity gamma chain hemoglobin diseaseProgressive myoclonic epilepsy type 6Familial progressive hyper- and hypopigmentationMultiple congenital anomalies-hypotonia-seizures syndromeOccipital pachygyria and polymicrogyriaAutosomal recessive nail dysplasiaHermansky-Pudlak syndrome type 9Megaconial congenital muscular dystrophyMoyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndromeSevere intellectual disability and progressive spastic paraplegiaGeneralized essential telangiectasiaCutaneous collagenous vasculopathyBullous diffuse cutaneous mastocytosisPseudoxanthomatous diffuse cutaneous mastocytosisIntralobar congenital pulmonary sequestrationExtralobar congenital pulmonary sequestrationCommunicating congenital bronchopulmonary-foregut malformationCongenital pulmonary airway malformation type 0Congenital pulmonary airway malformation type 1Congenital pulmonary airway malformation type 2Congenital pulmonary airway malformation type 3Congenital pulmonary airway malformation type 4Isolated idiopathic anterior uveitisIdiopathic posterior uveitisIdiopathic panuveitisSyndromic recessive X-linked ichthyosisSelf-improving collodion babyAcral self-healing collodion babyAnnular epidermolytic ichthyosisCongenital reticular ichthyosiform erythrodermaKeratosis linearis-ichthyosis congenita-sclerosing keratoderma syndromeInherited Creutzfeldt-Jakob diseaseLarsen-like syndrome, B3GAT3 typeCraniosynostosis-dental anomalies8q21.11 microdeletion syndromeFacial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletionXp22.13p22.2 duplication syndromeTEMPI syndromeAutosomal dominant Charcot-Marie-Tooth disease type 2OFamilial retinal arterial macroaneurysmAutosomal recessive cerebellar ataxia-psychomotor delay syndromeAutosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiencyAdult-onset autosomal recessive cerebellar ataxiaChildhood-onset autosomal recessive slowly progressive spinocerebellar ataxiaInfantile-onset autosomal recessive nonprogressive cerebellar ataxiaPontocerebellar hypoplasia type 7DICER1 tumor-predisposition syndromeFetal lung interstitial tumorReversible cerebral vasoconstriction syndromeWell-differentiated fetal adenocarcinoma of the lungSmall cell carcinoma of the bladderGlycerol kinase deficiency, juvenile formGlycerol kinase deficiency, adult formPhosphoserine aminotransferase deficiency, infantile/juvenile formGlycogen storage disease due to lactate dehydrogenase M-subunit deficiencyGlycogen storage disease due to lactate dehydrogenase H-subunit deficiencyCLIPPERSAcute zonal occult outer retinopathyAcute annular outer retinopathyMarfan syndrome type 1Marfan syndrome type 2Neonatal Marfan syndromeAneurysm-osteoarthritis syndromeHypocalcemic vitamin D-dependent ricketsAutosomal recessive hypophosphatemic ricketsEarly-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutationHypermethioninemia encephalopathy due to adenosine kinase deficiencyDevelopmental delay due to methylmalonate semialdehyde dehydrogenase deficiencyTropical spastic paraparesisInfective dermatitis associated with HTLV-1Primary non-gestational choriocarcinoma of ovaryNon-central nervous system-localized embryonal carcinomaFamilial vesicoureteral refluxEarly-onset myopathy with fatal cardiomyopathyMyosclerosisMalignancy diagnosed during pregnancyPrimary Sjögren diseaseIsolated congenital adermatoglyphiaPASH syndromeIntellectual disability-alacrima-achalasia syndrome4H leukodystrophyCongenital cataract microcornea with corneal opacityCombined malonic and methylmalonic acidemia12q15q21 microdeletion syndromeMicrotriplication 11q24.1 syndromeBAP1-related tumor predisposition syndromeInherited isolated adrenal insufficiency due to partial CYP11A1 deficiencyDysmorphism-conductive hearing loss-heart defect syndromeMitochondrial membrane protein-associated neurodegenerationExfoliative ichthyosisJuvenile nasopharyngeal angiofibromaHereditary arterial and articular multiple calcification syndromeEpstein-Barr virus-positive diffuse large B-cell lymphomaPlasmablastic lymphomaLymphoepithelial-like carcinomaMyopericytomaGlutathione synthetase deficiency with 5-oxoprolinuriaGlutathione synthetase deficiency without 5-oxoprolinuriaNeonatal glycine encephalopathyInfantile glycine encephalopathyAtypical glycine encephalopathyTransient hyperammonemia of the newbornHypermethioninemia due to glycine N-methyltransferase deficiencyVitamin B12-unresponsive methylmalonic acidemia type mut0Familial clubfoot due to 5q31 microdeletionFamilial clubfoot due to PITX1 point mutationSkin fragility-woolly hair-palmoplantar keratoderma syndromeInfantile-onset ascending hereditary spastic paralysisAcute generalized exanthematous pustulosisEpilepsy of infancy with migrating focal seizuresPleomorphic rhabdomyosarcomaEpithelioid sarcomaCeliac artery compression syndromeTetrahydrobiopterin-responsive phenylketonuriaGrayson-Wilbrandt corneal dystrophyEpithelial recurrent erosion dystrophyPre-Descemet corneal dystrophyCongenital hereditary endothelial dystrophy type IIX-linked endothelial corneal dystrophyPYCR1-related De Barsy syndromeBlepharophimosis-intellectual disability syndrome, MKB typeBlepharophimosis-intellectual disability syndrome, Verloes typeKetamine-induced biliary dilatationFixed drug eruptionMITF-related melanoma and renal cell carcinoma predisposition syndromeAutosomal dominant KLF1-related dyserythropoietic anemiaFatal infantile encephalopathy-pulmonary hypertension syndrome3MC syndromeFrontotemporal dementia, right temporal atrophy variantHypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndromeInherited isolated arrhythmogenic cardiomyopathy, dominant-left variantInherited isolated arrhythmogenic ventricular dysplasia, biventricular variantInherited isolated arrhythmogenic cardiomyopathy, dominant-right variantLethal occipital encephalocele-skeletal dysplasia syndromeEDICT syndromeDistal Xq28 microduplication syndrome1p21.3 microdeletion syndromeChildhood encephalopathy due to thiamine pyrophosphokinase deficiencyHypertelorism-preauricular sinus-punctual pits-deafness syndromeHypoinsulinemic hypoglycemia and body hemihypertrophyHypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndromeDeficiency in anterior pituitary function-variable immunodeficiency syndromeRapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndromeMicrocephaly-capillary malformation syndromeNeonatal erythroderma-autoinflammation-inflammatory bowel disease syndromeSyndactyly-nystagmus syndrome due to 2q31.1 microduplicationReunion Island Larsen-like syndromeRenal-hepatic-pancreatic dysplasiaChronic intestinal failureIsolated amelia of upper limbIsolated amelia of lower limbIsolated tetra-ameliaIsolated humeral agenesis/hypoplasiaIsolated absence of upper arm and forearm with hand presentIsolated absence of thigh and lower leg with foot presentIsolated absence of both forearm and handIsolated absence of both lower leg and footIsolated acheiriaIsolated apodiaIsolated hypoplasia of thumbAmniotic band syndromeIsolated hyperphalangyCentral polydactylySyndactyly type 6Familial isolated clinodactyly of fingersCamptodactyly of fingersCongenital pseudoarthrosis of the tibiaCongenital pseudoarthrosis of the femurCongenital pseudoarthrosis of the fibulaCongenital pseudoarthrosis of the radiusCongenital pseudoarthrosis of the ulnaIsolated tibio-fibular synostosisTrue congenital shoulder dislocationIsolated congenital radial head dislocationCongenital knee dislocationCongenital patella dislocationMacrodactyly of fingersMacrodactyly of toesUpper limb hypertrophyLower limb hypertrophyZygodactyly type 1Zygodactyly type 2Zygodactyly type 3Zygodactyly type 4Synpolydactyly type 1Synpolydactyly type 2Synpolydactyly type 3Congenital vertical talus, unilateralCongenital vertical talus, bilateralCongenital elbow dislocation, unilateralCongenital elbow dislocation, bilateralCongenital genu recurvatumCongenital genu flexumMacrodactyly of fingers, unilateralMacrodactyly of fingers, bilateralMacrodactyly of toes, unilateralMacrodactyly of toes, bilateralKyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiencyConnective tissue disorder due to lysyl hydroxylase-3 deficiencyTransient infantile hypertriglyceridemia and hepatosteatosisSevere congenital hypochromic anemia with ringed sideroblasts11p15.4 microduplication syndromeCongenital cataract-hearing loss-severe developmental delay syndromeCharcot-Marie-Tooth disease type 2PPersistent polyclonal B-cell lymphocytosisNephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndromeAutosomal systemic lupus erythematosusPLCG2-associated antibody deficiency and immune dysregulationX-linked acrogigantismProgeroid and marfanoid aspect-lipodystrophy syndromePituitary carcinomaSagliker syndromeMultiple congenital anomalies-hypotonia-seizures syndrome type 2Painful orbital and systemic neurofibromas-marfanoid habitus syndromeOnychocytic matricomaOnychomatricomaPseudohypoaldosteronism type 2DPseudohypoaldosteronism type 2EDDOST-CDGAutosomal recessive infantile hypercalcemiaFollicular cholangitis and pancreatitisCarcinoma of the ampulla of VaterCombined pulmonary fibrosis-emphysema syndromeCortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutationPolymicrogyria due to TUBB2B mutationOligodontia-cancer predisposition syndromeJuvenile amyotrophic lateral sclerosisFamilial dilated cardiomyopathy with conduction defect due to LMNA mutationDiffuse large B-cell lymphoma of the central nervous systemT-cell/histiocyte rich large B cell lymphomaPrimary cutaneous anaplastic large cell lymphomaSplenic diffuse red pulp small B-cell lymphomaHairy cell leukemia variantDiffuse large B-cell lymphoma with chronic inflammationALK-positive anaplastic large cell lymphomaALK-negative anaplastic large cell lymphomaAdult-onset immunodeficiency with anti-interferon-gamma autoantibodiesPTEN hamartoma tumor syndromeInterstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndromeLAMB2-related infantile-onset nephrotic syndromeAutosomal recessive spastic paraplegia type 48Primary hypomagnesemia with hypercalciuria and nephrocalcinosisIsolated hereditary congenital facial paralysisCongenital hereditary facial paralysis-variable hearing loss syndromeFrontonasal dysplasia-severe microphthalmia-severe facial clefting syndromePorencephaly-microcephaly-bilateral congenital cataract syndromeFADD-related immunodeficiencyMyospherulosisPrimary microcephaly-epilepsy-permanent neonatal diabetes syndromeHereditary sodium channelopathy-related small fibers neuropathyX-linked complicated spastic paraplegia type 1Complication after organ transplantationFamilial normophosphatemic tumoral calcinosisFamilial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndromeHemiparkinsonism-hemiatrophy syndromeKufor-Rakeb syndromeManganese poisoningDelayed encephalopathy due to carbon monoxide poisoningCyanide-induced parkinsonism-dystoniaSydenham choreaPrimary dystonia, DYT21 typeHemidystonia-hemiatrophy syndromeSporadic hyperekplexiaCurly hair-acral keratoderma-caries syndromeHypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndromeFocal acral hyperkeratosisMethylcobalamin deficiency type cblDv1Sulfite oxidase deficiency due to molybdenum cofactor deficiency type ASulfite oxidase deficiency due to molybdenum cofactor deficiency type BSulfite oxidase deficiency due to molybdenum cofactor deficiency type CAutism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiencyMethylmalonic acidemia due to methylmalonyl-CoA epimerase deficiencyVitamin B12-responsive methylmalonic acidemia, type cblDv2Erythrocyte galactose epimerase deficiencyGeneralized galactose epimerase deficiencyGlycogen storage disease due to acid maltase deficiency, infantile onsetGlycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic formGlycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic formGlycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular formGlycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular formGlycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic formGlycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular formGlycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular formFamilial lipoprotein lipase deficiencyFamilial apolipoprotein C-II deficiencyMevalonate kinase deficiencyPancreatic triacylglycerol lipase deficiencyPancreatic colipase deficiencyCombined pancreatic lipase-colipase deficiencyHyper-beta-alaninemiaSandhoff disease, infantile formSandhoff disease, juvenile formSandhoff disease, adult formTay-Sachs disease, infantile formTay-Sachs disease, juvenile formTay-Sachs disease, adult formGM2 gangliosidosis, AB variantAtypical Gaucher disease due to saposin C deficiencyMetachromatic leukodystrophy, late infantile formMetachromatic leukodystrophy, juvenile formMetachromatic leukodystrophy, adult formAlpha-mannosidosis, infantile formAlpha-mannosidosis, adult formMucopolysaccharidosis type 4AMucopolysaccharidosis type 4BFree sialic acid storage disease, infantile formIntermediate severe Salla diseaseSalla diseaseRhizomelic chondrodysplasia punctata type 1Rhizomelic chondrodysplasia punctata type 2Rhizomelic chondrodysplasia punctata type 3Cirrhosis-dystonia-polycythemia-hypermanganesemia syndromeEarly-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome20p13 microdeletion syndromeJawad syndromeROSAH syndromeAdult-onset leukoencephalopathy with axonal spheroids and pigmented gliaCoats plus syndromeFamilial cutaneous telangiectasia and oropharyngeal cancer predisposition syndromeInfantile cerebellar-retinal degenerationFGFR2-related bent bone dysplasia12p12.1 microdeletion syndromeDevelopmental and speech delay due to SOX5 deficiencyCongenital pancreatic cystEpstein-Barr virus-associated gastric carcinomaPENS syndrome2q23.1 microduplication syndromeContractures-webbed neck-micrognathia-hypoplastic nipples syndromeIdiopathic linear interstitial keratitisGastric adenocarcinoma and proximal polyposis of the stomachHigh bone mass osteogenesis imperfecta7p22.1 microduplication syndromeMarfanoid habitus-inguinal hernia-advanced bone age syndromeLeukoencephalopathy-thalamus and brainstem anomalies-high lactate syndromeChronic infantile diarrhea due to guanylate cyclase 2C overactivityIntestinal obstruction in the newborn due to guanylate cyclase 2C deficiencyHereditary sensory and autonomic neuropathy type 6Xq12-q13.3 duplication syndromeShort stature-onychodysplasia-facial dysmorphism-hypotrichosis syndromeAutosomal dominant aplasia and myelodysplasiaAutosomal dominant cerebellar ataxia-deafness-narcolepsy syndromeAmeloblastomaAmeloblastic carcinomaSpigelian hernia-cryptorchidism syndromeMeigs syndromePseudo-Meigs syndromeAtypical Meigs syndromeOvarian fibromaOvarian fibrothecomaYoung adult-onset distal hereditary motor neuropathyFacial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndromePrimary progressive apraxia of speechAutosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndromeIntellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome15q overgrowth syndromeDistal triplication 15q syndromeChudley-McCullough syndromeAutosomal recessive spastic ataxia with leukoencephalopathyGrowing teratoma syndromeDuplication of the pituitary glandCLN11 diseaseCLN12 diseaseMitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiencyNon-progressive cerebellar ataxia with intellectual disabilityVariant ABeta2M amyloidosisSevere neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletionSegmental progressive overgrowth syndrome with fibroadipose hyperplasiaTMEM165-CDGCerebrofacioarticular syndromePrimary bone lymphomaCombined immunodeficiency due to STK4 deficiencyAcquired porencephalyPrimary systemic amyloidosisPrimary localized amyloidosisLethal arteriopathy syndrome due to fibulin-4 deficiencyAtypical dentin dysplasia due to SMOC2 deficiencySomatomammotropinomaFamilial isolated pituitary adenomaSilent pituitary adenomaNull pituitary adenomaSHOX-related short statureShort stature due to partial GHR deficiencyShort stature due to GHSR deficiencyAutosomal dominant proximal renal tubular acidosisSevere Canavan diseaseMild Canavan diseasePrimary hypereosinophilic syndromeSecondary hypereosinophilic syndromeLymphocytic hypereosinophilic syndromeX-linked non progressive cerebellar ataxiaCataract-congenital heart disease-neural tube defect syndromeClassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting formClassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing formT-B-NK+ severe combined immunodeficiency due to DNA-PKcs deficiencyCombined immunodeficiency due to ORAI1 deficiencyCombined immunodeficiency due to STIM1 deficiencyCommon variable immunodeficiency phenotype due to IKAROS functional haploinsufficiencyXMENCongenital myopathy with internal nuclei and atypical coresDistal 17p13.1 microdeletion syndromeWiedemann-Steiner syndromeFamilial cortical myoclonusDiencephalic-mesencephalic junction dysplasiaChondroectodermal dysplasia with night blindnessAutosomal recessive spastic paraplegia type 53Bilateral massive adrenal hemorrhageLujo hemorrhagic feverEbola hemorrhagic feverArgentine hemorrhagic feverBolivian hemorrhagic feverVenezuelan hemorrhagic feverBrazilian hemorrhagic feverChapare hemorrhagic feverHantavirus pulmonary syndromeRift valley feverKyasanur forest diseaseOmsk hemorrhagic feverClear cell renal carcinomaMultilocular cystic renal neoplasm of low malignant potentialPapillary renal cell carcinomaChromophobe renal cell carcinomaMiT family translocation renal cell carcinomaRenal medullary carcinomaMucinous tubular and spindle cell renal carcinomaTubulocystic renal cell carcinomaAutosomal recessive myogenic arthrogryposis multiplex congenitaCarney complex-trismus-pseudocamptodactyly syndromeInherited cancer-predisposing syndrome due to biallelic BRCA2 mutationsInherited acute myeloid leukemiaAcute myeloid leukemia with CEBPA somatic mutationsFamilial papillary or follicular thyroid carcinomaCombined oxidative phosphorylation defect type 8Combined oxidative phosphorylation defect type 9Combined oxidative phosphorylation defect type 13Combined oxidative phosphorylation defect type 14Combined oxidative phosphorylation defect type 15Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiencyMendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiencyMendelian susceptibility to mycobacterial diseases due to complete IL12B deficiencyMendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiencyAutosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiencyAutosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiencyAutosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiencyAutosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiencyMendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiencyMendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiencyX-linked mendelian susceptibility to mycobacterial diseasesAmyloidosis cutis dyschromiaRetinal macular dystrophy type 2PGM1-CDGConstitutional megaloblastic anemia with severe neurologic diseasePrimary lymphoma of the conjunctivaAlazami syndromeMicrocephalic primordial dwarfism, Dauber typeEncephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndromeAutosomal dominant spastic paraplegia type 41MT-ATP6-related mitochondrial spastic paraplegiaAutosomal dominant spastic paraplegia type 36Autosomal recessive spastic paraplegia type 43Autosomal recessive spastic paraplegia type 55Autosomal recessive spastic paraplegia type 54Hereditary sensory and autonomic neuropathy due to TECPR2 mutationAutosomal recessive spastic paraplegia type 46Autosomal recessive spastic paraplegia type 45Autosomal recessive spastic paraplegia type 44Spastic paraplegia-optic atrophy-neuropathy syndromeAutosomal recessive spastic paraplegia type 56Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiencyPRDM8-related progressive myoclonus epilepsyT-cell immunodeficiency with epidermodysplasia verruciformisEPAS1-related polycythemia-pheochromocytoma/paraganglioma syndromeSevere lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome9p13 microdeletion syndromeSinoatrial node dysfunction and deafnessCongenital achiasmaMixed sclerosing bone dystrophy with extra-skeletal manifestationsHereditary inclusion body myopathy type 4X-linked intellectual disability-cardiomegaly-congestive heart failure syndromeMuscular hypertrophy-hepatomegaly-polyhydramnios syndromeALG13-CDGAutosomal recessive axonal neuropathy with neuromyotoniaHypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutationAutoinflammation-PLCG2-associated antibody deficiency-immune dysregulationCombined oxidative phosphorylation defect type 11Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndromeHypopigmentation-punctate palmoplantar keratoderma syndromePontocerebellar hypoplasia type 8Hyperinsulinism due to HNF1A deficiencyBenign Samaritan congenital myopathyAutosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic painFamilial dyskinesia and facial myokymiaX-linked cleft palate and ankyloglossiaClassic multiminicore myopathyAutosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutationChikungunyaHendra virus infectionAutoerythrocyte sensitization syndromeInvasive non-typhoidal salmonellosisABetaL34V amyloidosisABeta amyloidosis, Iowa typeABeta amyloidosis, Italian typeABetaA21G amyloidosisABeta amyloidosis, Arctic typeSRD5A3-CDGChronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitisMAGIC syndromeProteasome-associated autoinflammatory syndromeJMP syndromeCANDLE syndromeTesticular agenesis46,XY ovotesticular difference of sex developmentLeydig cell hypoplasia due to LHB deficiencyClassic congenital lipoid adrenal hyperplasia due to STAR deficencyNon-classic congenital lipoid adrenal hyperplasia due to STAR deficencyAutoinflammatory syndrome with pyogenic bacterial infection and amylopectinosisCongenital muscular dystrophy with intellectual disability and severe epilepsyTall stature-long halluces-multiple extra-epiphyses syndromeDevelopmental delay with autism spectrum disorder and gait instabilityAutosomal dominant neovascular inflammatory vitreoretinopathyCerebral sinovenous thrombosisSchuurs-Hoeijmakers syndromeMicrocephalic primordial dwarfism due to ZNF335 deficiencyX-linked central congenital hypothyroidism with late-onset testicular enlargementCongenital chronic diarrhea with protein-losing enteropathySevere early-onset obesity-insulin resistance syndrome due to SH2B1 deficiencyBlepharophimosis-intellectual disability syndrome due to UBE3B deficiencyAutosomal dominant Charcot-Marie-Tooth disease type 2QBeta-propeller protein-associated neurodegenerationFatty acid hydroxylase-associated neurodegenerationAdult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiencyThrombocythemia with distal limb defectsInverse Klippel-Trénaunay syndromeAutosomal recessive frontotemporal pachygyriaMicrocephaly-cerebellar hypoplasia-cardiac conduction defect syndromeAdult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathyDistal arthrogryposis type 5DAutosomal dominant focal dystonia, DYT25 typeAcute megakaryoblastic leukemia in children without Down syndromeSpastic paraplegia-Paget disease of bone syndromeAdult-onset distal myopathy due to VCP mutationLipoprotein glomerulopathy5p13 microduplication syndromeMosaic genome-wide paternal uniparental disomy syndromeIdiopathic giant cell myocarditisNon-hypoproteinemic hypertrophic gastropathyJuvenile overlap myositisImmunoglobulin-mediated membranoproliferative glomerulonephritisC3 glomerulopathyC3 glomerulonephritisTransient neonatal multiple acyl-CoA dehydrogenase deficiencyIntermittent hydrarthrosisGeneralized juvenile polyposis/juvenile polyposis coliClassic neuroendocrine tumor of appendixGoblet cell carcinomaWild type ATTR amyloidosisHigh altitude pulmonary edemaLead poisoningMercury poisoningHypotrichosis-deafness syndromeHemoglobin Lepore-beta-thalassemia syndromeHemoglobin M diseaseDNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defectCongenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndromeHydroa vacciniformeActinic prurigoChronic actinic dermatitisSevere congenital neutropenia due to G6PC3 deficiencyImmunodeficiency due to MASP-2 deficiencyImmunodeficiency due to ficolin3 deficiencyT-B-NK+ severe combined immunodeficiency due to complete RAG1/2 deficiencySusceptibility to infection due to TYK2 deficiencySelective IgM deficiencyMEGDEL syndromeCongenital ichthyosis-intellectual disability-spastic quadriplegia syndromeSpectrin-associated autosomal recessive cerebellar ataxiaProgressive external ophthalmoplegia-myopathy-emaciation syndromeDNA2-related mitochondrial DNA deletion syndromeISPD-related limb-girdle muscular dystrophy R20Digital anomalies-intellectual disability-short stature syndromeAutism spectrum disorder due to AUTS2 deficiencyIntellectual disability-obesity-brain malformations-facial dysmorphism syndromeOncogenic osteomalaciaInfantile hypertrophic cardiomyopathy due to MRPL44 deficiencyBainbridge-Ropers syndromeFamilial infantile myoclonic epilepsyFocal epilepsy-intellectual disability-cerebro-cerebellar malformationProgressive myoclonic epilepsy with dystoniaMale infertility due to NANOS1 mutation16q24.1 microdeletion syndromePhalangeal microgeodic syndromeAutosomal recessive cerebellar ataxia with late-onset spasticityBrain dopamine-serotonin vesicular transport diseaseEarly-onset progressive neurodegeneration-blindness-ataxia-spasticity syndromeHereditary benign intraepithelial dyskeratosisCorneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndromeNeurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionAutosomal dominant intermediate Charcot-Marie-Tooth disease type FX-linked Charcot-Marie-Tooth disease type 6Cobblestone lissencephaly without muscular or ocular involvementCLN13 diseaseFacial dysmorphism-immunodeficiency-livedo-short stature syndromeProgressive retinal dystrophy due to retinol transport defectAttenuated Chédiak-Higashi syndromeOculocutaneous albinism type 1Minimal pigment oculocutaneous albinism type 1Temperature-sensitive oculocutaneous albinism type 1Ocular albinism with congenital sensorineural deafnessOculocutaneous albinism type 7ScleredemaEpileptic encephalopathy with global cerebral demyelinationFamilial primary localized cutaneous amyloidosisBurning mouth syndromeRubinstein-Taybi syndrome due to CREBBP mutationsRubinstein-Taybi syndrome due to 16p13.3 microdeletionRubinstein-Taybi syndrome due to EP300 haploinsufficiencyRoifman syndromePyruvate carboxylase deficiency, infantile typePyruvate carboxylase deficiency, severe neonatal typePyruvate carboxylase deficiency, benign typeCongenital myasthenic syndrome with glycosylation defectCongenital retinal arteriovenous communicationIdiopathic macular telangiectasia type 1Idiopathic macular telangiectasia type 3Vasoproliferative tumor of the retina3q26q27 microdeletion syndromeSLC35A2-CDGD,L-2-hydroxyglutaric aciduriaANK3-related intellectual disability-sleep disturbance syndrome19p13.13 microdeletion syndromeHemolytic uremic syndrome with DGKE deficiencyHereditary retinoblastomaNon-hereditary retinoblastomaAmyotrophic lateral sclerosis type 4Autosomal recessive cutis laxa type 2AAutosomal recessive cutis laxa type 2BAutosomal recessive cutis laxa type 2, classic typeArterial thoracic outlet syndromeVenous thoracic outlet syndromeOral submucous fibrosisMandibulofacial dysostosis-macroblepharon-macrostomia syndromeShort ulna-dysmorphism-hypotonia-intellectual disability syndromePrimary essential cutis verticis gyrataPrimary non-essential cutis verticis gyrataCombined immunodeficiency due to CARD11 deficiencyCombined immunodeficiency due to IL21R deficiencySyndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndromeHigh myopia-sensorineural deafness syndromeProgressive encephalopathy-severe neurodegeneration-lipodystrophy syndromeFetal akinesia-cerebral and retinal hemorrhage syndromeHypomyelination with brain stem and spinal cord involvement and leg spasticityTemtamy preaxial brachydactyly syndromeMultiple mitochondrial dysfunctions syndrome type 3Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndromeAutosomal recessive congenital cerebellar ataxia due to GRID2 deficiencyTHOC6-related developmental delay-microcephaly-facial dysmorphism syndromeAutosomal dominant childhood-onset proximal spinal muscular atrophyBICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophyParatesticular adenocarcinomaTesticular teratomaSex cord-stromal tumor of testisNon-seminomatous germ cell tumor of testisHypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndromeIntellectual disability-strabismus syndromeMitochondrial DNA depletion syndrome, hepatocerebrorenal formLeukoencephalopathy with mild cerebellar ataxia and white matter edemaAutosomal recessive limb-girdle muscular dystrophy type 2RAcute encephalopathy with biphasic seizures and late reduced diffusionNew-onset refractory status epilepticusCTCF-related neurodevelopmental disorderLMNA-related cardiocutaneous progeria syndromeGMPPB-related limb-girdle muscular dystrophy R19Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndromeX-linked parkinsonism-spasticity syndrome20q11.2 microduplication syndromeAcroosteolysis-keloid-like lesions-premature aging syndromeChildhood-onset autosomal recessive myopathy with external ophthalmoplegia2p13.2 microdeletion syndromeSevere intellectual disability-poor language-strabismus-grimacing face-long fingers syndromeHyperuricemia-pulmonary hypertension-renal failure-alkalosis syndromeNeurofibromatosis type 1 due to NF1 mutation or intragenic deletionCraniofaciofrontodigital syndromeSpinocerebellar ataxia type 37Alexander disease type IAlexander disease type IIX-linked dyserythropoietic anemia with abnormal platelets and neutropeniaColobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndromeBalint syndrome17q21.31 microdeletion syndromeKoolen-De Vries syndrome due to a point mutationAutosomal recessive cerebral atrophyNoonan syndrome-like disorder with juvenile myelomonocytic leukemiaGiant cell tumor of boneCharcot-Marie-Tooth disease type 4B3Familial benign flecked retinaIchthyosis-short stature-brachydactyly-microspherophakia syndromeNon-immune hydrops fetalisImmune hydrops fetalisX-linked intellectual disability due to GRIA3 mutationsSystemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhoodHydroa vacciniforme-like lymphomaALK-positive large B-cell lymphomaSevere early-childhood-onset retinal dystrophyInfantile epileptic-dyskinetic encephalopathyBipartite talusIntellectual disability-brachydactyly-Pierre Robin syndromeIntellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndromeTRAPPC11-related limb-girdle muscular dystrophy R18Intellectual disability-hyperkinetic movement-truncal ataxia syndromeCongenital neutropenia-myelofibrosis-nephromegaly syndromeCongenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndromeAutosomal recessive intermediate Charcot-Marie-Tooth disease type CObesity due to SIM1 deficiency2p21 microdeletion syndrome without cystinuriaDevelopmental delay-facial dysmorphism syndrome due to MED13L deficiencyMitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomaliesCombined oxidative phosphorylation defect type 17Pontocerebellar hypoplasia type 9Primary hyperaldosteronism-seizures-neurological abnormalities syndromeSevere motor and intellectual disabilities-sensorineural deafness-dystonia syndromeCADDSIntellectual disability-seizures-macrocephaly-obesity syndromeMethylmalonic acidemia with homocystinuria, type cblJMethylmalonic acidemia with homocystinuria, type cblXMicrocornea-myopic chorioretinal atrophy-telecanthus syndromeFinger hyperphalangy-toe anomalies-severe pectus excavatum syndromeSevere dermatitis-multiple allergies-metabolic wasting syndromeDiffuse palmoplantar keratoderma with painful fissuresFocal palmoplantar keratoderma with joint keratosesHypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndromeIntellectual disability-facial dysmorphism-hand anomalies syndromeSpondyloepimetaphyseal dysplasia, Isidor-Toutain typeSpondylometaphyseal dysplasia, Czarny-Ratajczak typeAtaxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndromeAcute myeloid leukemia with t(8;16)(p11;p13) translocationFamilial syringomyeliaAngora hair nevusDidymosis aplasticosebaceaSCALP syndromeNEVADA syndromeFetal carbamazepine syndromeProximal 16p11.2 microduplication syndromeAcute infantile liver failure-multisystemic involvement syndromeOculocutaneous albinism type 5Oculocutaneous albinism type 6Primary dystonia, DYT17 typeAtaxia-telangiectasia variantCombined cervical dystoniaMedich giant platelet syndromeWhite platelet syndromeExtraskeletal Ewing sarcomaPeripheral primitive neuroectodermal tumorSmall cell carcinoma of the ovarySTT3A-CDGSTT3B-CDGSSR4-CDGXYLT1-CDGGM3 synthase deficiencySalt-and-pepper syndromeAutism spectrum disorder-epilepsy-arthrogryposis syndromeCongenital muscular dystrophy with cerebellar involvementCongenital muscular dystrophy with intellectual disabilityCongenital muscular dystrophy without intellectual disabilityMuscle-eye-brain disease with bilateral multicystic leucodystrophyCongenital muscular dystrophy with hyperlaxityHypotonia-speech impairment-severe cognitive delay syndromeMulticentric osteolysis-nodulosis-arthropathy spectrumSevere intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndromeSusceptibility to viral and mycobacterial infections due to STAT1 deficiencyTNK2-related epilepsy with severe cognitive regressionEast Texas bleeding disorderX-linked calvarial hyperostosisX-linked osteoporosis with fracturesFatal post-viral neurodegenerative disorderGrowth and developmental delay-hypotonia-vision impairment-lactic acidosis syndromeSURF1-related Charcot-Marie-Tooth disease type 4Growth retardation-mild developmental delay-chronic hepatitis syndromeFOXP1 SyndromeCongenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndromeFamilial episodic pain syndromeFamilial episodic pain syndrome with predominantly upper body involvementFamilial episodic pain syndrome with predominantly lower limb involvementHereditary sensory and autonomic neuropathy type 7Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeAtypical juvenile parkinsonismHSD10 diseaseHSD10 disease, infantile typeHSD10 disease, neonatal typeFrontorhinySTAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndromeAdult-onset myasthenia gravisJuvenile myasthenia gravisTransient neonatal myasthenia gravisFeingold syndrome type 1Feingold syndrome type 2Glomus tumorOff-periods in Parkinson disease not responding to oral treatmentHomozygous familial hypercholesterolemiaNecrotizing enterocolitisShort stature-optic atrophy-Pelger-Huët anomaly syndromeMucinous adenocarcinoma of the appendixMultiple acyl-CoA dehydrogenase deficiency, severe neonatal typeMultiple acyl-CoA dehydrogenase deficiency, mild typeDeep dermatophytosisSilver-Russell syndrome due to a point mutationSevere neonatal lactic acidosis due to NFS1-ISD11 complex deficiencyPrP systemic amyloidosisMacrocephaly-developmental delay syndromeObesity due to CEP19 deficiencyFoveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndromeShort stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndromeFamilial hyperprolactinemia3q27.3 microdeletion syndromeIntellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndromeJoubert syndrome with Jeune asphyxiating thoracic dystrophyCOASY protein-associated neurodegenerationAutosomal dominant Charcot-Marie-Tooth disease type 2UMYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndromePeriodic paralysis with later-onset distal motor neuropathyPeriodic paralysis with transient compartment-like syndromeRetinal dystrophy with inner retinal dysfunction and ganglion cell anomaliesCombined immunodeficiency due to IKBKB deficiencyFerro-cerebro-cutaneous syndromeSacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndromeSevere intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndromePolyglucosan body myopathy type 1MAN1B1-CDGAutosomal spastic paraplegia type 58Microcephaly-thin corpus callosum-intellectual disability syndromeTCR-alpha-beta-positive T-cell deficiencyCombined immunodeficiency due to MALT1 deficiencyCharcot-Marie-Tooth disease type 2RIntellectual disability-obesity-prognathism-eye and skin anomalies syndromeAdenocarcinoma of the penisSquamous cell carcinoma of the penisRefractory celiac diseaseSchaaf-Yang syndromeSIM1-related Prader-Willi-like syndromeHereditary cryohydrocytosis with normal stomatinNeonatal antiphospholipid syndromeNeonatal autoimmune hemolytic anemiaNeonatal dermatomyositisNeonatal lupus erythematosusNeonatal sclerodermaPersistent idiopathic facial painOculoauriculofrontonasal syndromeFocal facial dermal dysplasiaFocal facial dermal dysplasia type IIFocal facial dermal dysplasia type IVMucinous adenocarcinoma of ovaryClear cell adenocarcinoma of the ovaryMalignant teratoma of ovaryAlpha-B crystallin-related late-onset myopathyKLHL9-related early-onset distal myopathyHNRNPA1-related adult-onset distal myopathyDistal anoctaminopathyAutosomal recessive distal nebulin myopathyTraumatic avascular necrosisSecondary non-traumatic avascular necrosisOsteonecrosis of the jawIdiopathic avascular necrosisEpiphysiolysis of the hipMale infertility with azoospermia or oligozoospermia due to single gene mutationMale infertility with teratozoospermia due to single gene mutationPancytopenia-developmental delay syndromeProximal myopathy with extrapyramidal signsOptic atrophy-intellectual disability syndromeAutosomal recessive spastic paraplegia type 61Autosomal recessive spastic paraplegia type 62Autosomal recessive spastic paraplegia type 59Autosomal recessive spastic paraplegia type 60Autosomal recessive spastic paraplegia type 63Autosomal recessive spastic paraplegia type 64Autosomal recessive spastic paraplegia type 66Autosomal recessive spastic paraplegia type 67Autosomal recessive spastic paraplegia type 68Autosomal recessive spastic paraplegia type 69Autosomal recessive spastic paraplegia type 70Autosomal recessive spastic paraplegia type 71Autosomal spastic paraplegia type 72Lipoic acid synthetase deficiencyLipoyl transferase 1 deficiencyChildhood-onset spasticity with hyperglycinemiaMultiple mitochondrial dysfunctions syndrome type 1Multiple mitochondrial dysfunctions syndrome type 2Huntington disease-like syndrome due to C9ORF72 expansionsAXIN2-related polyposisFibrolamellar hepatocellular carcinoma9q31.1q31.3 microdeletion syndrome14q24.1q24.3 microdeletion syndromeFamilial median cleft of the upper and lower lipsMoyamoya disease with early-onset achalasiaHyperammonemic encephalopathy due to carbonic anhydrase VA deficiencyEpisodic ataxia with slurred speechPartial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndromeAutosomal dominant Charcot-Marie-Tooth disease type 2 with giant axonsMEND syndromeAutosomal recessive spondylometaphyseal dysplasia, Mégarbané type1p31p32 microdeletion syndromeKaryomegalic interstitial nephritisAutosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blisteringAcute myeloid leukemia with t(6;9)(p23;q34)Acute myeloid leukemia with t(9;11)(p22;q23)Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)Acute myeloid leukemia with NPM1 somatic mutationsEosinophilic colitisAutosomal recessive distal renal tubular acidosisFamilial bicuspid aortic valveProgressive myoclonic epilepsy type 5Infantile cerebral and cerebellar atrophy with postnatal progressive microcephalyHepatitis deltaDiffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndromeTatton-Brown-Rahman syndromeHelsmoortel-Van der Aa syndromeFBLN1-related developmental delay-central nervous system anomaly-syndactyly syndromeAlacrimia-choreoathetosis-liver dysfunction syndromeMultisystemic smooth muscle dysfunction syndromeFemale infertility due to zona pellucida defectIntellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndromeGlobal developmental delay-lung cysts-overgrowth-Wilms tumor syndromeAutosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiencyAutosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiencyChondromyxoid fibromaClear cell papillary renal cell carcinomaAcquired cystic disease-associated renal cell carcinomaSpinal muscular atrophy with respiratory distress type 2DITRADeficiency of adenosine deaminase 2Familial atypical multiple mole melanoma syndromePontocerebellar hypoplasia type 10Williams-Campbell syndromeAngelman syndrome due to a point mutationAngelman syndrome due to imprinting defect in 15q11-q13Mild phosphoribosylpyrophosphate synthetase superactivitySevere phosphoribosylpyrophosphate synthetase superactivityWolfram-like syndromeInsulin autoimmune syndromeHereditary late-onset Parkinson diseaseInfantile nephropathic cystinosisJuvenile nephropathic cystinosisOcular cystinosisPulmonary non-tuberculous mycobacterial infectionRenal agenesisMaternal riboflavin deficiencyGeneralized eruptive keratoacanthomaFamilial isolated trichomegalyEarly-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndromeFacial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome13q12.3 microdeletion syndromeAutosomal recessive cerebellar ataxia due to STUB1 deficiencyPRKAR1B-related neurodegenerative dementia with intermediate filamentsAHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndromeEpidermolysis bullosa simplex due to BP230 deficiencyEpidermolysis bullosa simplex due to exophilin 5 deficiencyPrimary failure of tooth eruptionDystonia-aphonia syndromeCarcinoma of esophagus, salivary gland typeUndifferentiated carcinoma of esophagusSquamous cell carcinoma of the stomachMalan overgrowth syndromeSecondary pulmonary alveolar proteinosisSemicircular canal dehiscence syndromeGlycogen storage disease due to acid maltase deficiency, late-onsetCranio-cervical dystonia with laryngeal and upper-limb involvementAdult-onset cervical dystonia, DYT23 typeVisual snow syndromeTemple-Baraitser syndromeBleeding disorder due to CalDAG-GEFI deficiencyEBV-induced lymphoproliferative disease due to CTPS1 deficiencyPostaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeTransient myeloproliferative syndromeWoolly hair-palmoplantar keratoderma syndromeAutosomal recessive severe congenital neutropenia due to CXCR2 deficiencyAutosomal recessive severe congenital neutropenia due to CSF3R deficiencyCombined oxidative phosphorylation defect type 20Combined oxidative phosphorylation defect type 21RIDDLE syndromeAutoimmune encephalopathy with parasomnia and obstructive sleep apneaCono-spondylar dysplasiaHereditary clear cell renal cell carcinomaSpinocerebellar ataxia type 40Spinocerebellar ataxia type 38Microcephaly-short stature-intellectual disability-facial dysmorphism syndromeSevere congenital neutropenia due to JAGN1 deficiencyNail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndromeMucolipidosis type III alpha/betaMucolipidosis type III gammaX-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiencyDouble outlet right ventricle with subaortic or doubly committed ventricular septal defectDouble outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxyCutaneous larva migransUndifferentiated carcinoma of stomachMicrocephaly-complex motor and sensory axonal neuropathy syndromeSquamous cell carcinoma of the small intestineSquamous cell carcinoma of the colonSquamous cell carcinoma of the rectumAdenocarcinoma of the anal canalSquamous cell carcinoma of the anal canalProgressive myoclonic epilepsy type 8Squamous cell carcinoma of pancreasAcinar cell carcinoma of pancreasMucinous cystadenocarcinoma of the pancreasIntraductal papillary mucinous carcinoma of pancreasPancreatic solid pseudopapillary neoplasmSerous cystadenocarcinoma of pancreasUndifferentiated carcinoma with osteoclast-like giant cells of pancreasColobomatous microphthalmia-rhizomelic dysplasia syndromeCongenital myopathy with myasthenic-like onsetTOR1AIP1-related limb-girdle muscular dystrophyAdenocarcinoma of the liver and intrahepatic biliary tractUndifferentiated carcinoma of liver and intrahepatic biliary tractSquamous cell carcinoma of liver and intrahepatic biliary tractBiliary cystadenocarcinomaAdenocarcinoma of the gallbladder and extrahepatic biliary tractSquamous cell carcinoma of gallbladder and extrahepatic biliary tractSTING-associated vasculopathy with onset in infancyX-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndromeCombined immunodeficiency due to OX40 deficiencyPrimary immunodeficiency with post-measles-mumps-rubella vaccine viral infectionScapuloperoneal spinal muscular atrophyX-linked scapuloperoneal muscular dystrophyAutosomal recessive spastic paraplegia type 57Patent urachusUrachal sinusUrachal diverticulumProgressive encephalopathy with leukodystrophy due to DECR deficiencyOrofaciodigital syndrome type 14Familial ossifying fibromaAnterior urethral valveAutosomal dominant Charcot-Marie-Tooth disease type 2YProgressive myoclonic epilepsy type 7Keppen-Lubinsky syndromeProximal 3p25.3 microdeletion syndromeCIDEC-related familial partial lipodystrophyLIPE-related familial partial lipodystrophyShort stature-advanced bone age-early-onset osteoarthritis syndromeAutosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutationLethal neonatal spasticity-epileptic encephalopathy syndromeColobomatous optic disc-macular atrophy-chorioretinopathy syndromeCOG2-CDGX-linked microcephaly-growth retardation-prognathism-cryptorchidism syndromeProgeroid features-hepatocellular carcinoma predisposition syndromeChronic atrial and intestinal dysrhythmia syndromeAutosomal recessive intermediate Charcot-Marie-Tooth disease type DContractures-developmental delay-Pierre Robin syndromeHIDEA syndromeIntrauterine growth restriction-short stature-early adult-onset diabetes syndromeIntellectual disability-expressive aphasia-facial dysmorphism syndromeAutoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiencyPeriodic fever-infantile enterocolitis-autoinflammatory syndromeThrombomodulin-related bleeding disorderCataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndromeMicrocephalic primordial dwarfism-insulin resistance syndromeHereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction diseaseRetinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndromeCombined immunodeficiency-multiple intestinal atresiaNon-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathyPseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosaAutosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicityKetoacidosis due to monocarboxylate transporter-1 deficiencyRARS-related autosomal recessive hypomyelinating leukodystrophySteel syndromePCNA-related progressive neurodegenerative photosensitivity syndromeSTAT3-related early-onset multisystem autoimmune diseaseFatty acyl-CoA reductase 1 deficiencySevere autosomal recessive macrothrombocytopeniaPURA-related severe neonatal hypotonia-seizures-encephalopathy syndromePURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutationProgressive encephalomyelitis with rigidity and myoclonusGCGR-related hyperglucagonemiaHuman infection by orthopoxvirusPlacental insufficiencyPediatric arterial ischemic strokeZinc-responsive necrolytic acral erythemaNon-recovering obstetric brachial plexus lesionEarly-onset myopathy-areflexia-respiratory distress-dysphagia syndromeKCNQ2-related developmental and epileptic encephalopathyALECT2 amyloidosisAApoAIV amyloidosisITM2B amyloidosisCutaneous polyarteritis nodosaPrimary polyarteritis nodosaSecondary polyarteritis nodosaSingle-organ polyarteritis nodosaSystemic polyarteritis nodosaPDE4D haploinsufficiency syndromeFatal congenital hypertrophic cardiomyopathy due to glycogen storage diseasePlastic bronchitisLethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndromeCongenital oculomotor nerve palsyCongenital abducens nerve palsyAutosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndromeNecrotizing soft tissue infectionInterstitial lung disease due to SP-C deficiencyInterstitial lung disease due to ABCA3 deficiencySevere early-onset pulmonary alveolar proteinosis due to MARS deficiencyFamilial colorectal cancer Type XRibose-5-P isomerase deficiencyIsolated sedoheptulokinase deficiencyCombined hamartoma of the retina and retinal pigment epitheliumL-ferritin deficiencyIsolated agenesis of gallbladderEarly-onset posterior subcapsular cataractEarly-onset lamellar cataractAH amyloidosisNon-specific early-onset epileptic encephalopathySporadic porphyria cutanea tardaFamilial porphyria cutanea tardaHemicrania continuaCharcot-Marie-Tooth disease type 2SCentral serous chorioretinopathyBaroreflex failure46,XY difference of sex development due to testicular 17,20-desmolase deficiencyHyperostosis cranialis internaHypothalamic adipsic hypernatraemia syndromeLymphoplasmacytic lymphoma without IgM productionNDE1-related microhydranencephalyNUT midline carcinomaPostpartum psychosisSpontaneous intracranial hypotensionClassic stiff person syndromeX-linked erythropoietic protoporphyriaParatyphoid feverPostural orthostatic tachycardia syndrome due to NET deficiencyHIV-associated cancerFocal stiff limb syndromePGM3-CDGDNAJB2-related Charcot-Marie-Tooth disease type 2Ventriculomegaly-cystic kidney diseaseMandibulofacial dysostosis with alopecia11q22.2q22.3 microdeletion syndromeCombined oxidative phosphorylation defect type 2346,XX ovarian dysgenesis-short stature syndrome20q11.2 microdeletion syndromeLethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndromeCerebellar-facial-dental syndromeCognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndromeAutoimmune interstitial lung disease-arthritis syndromeAutosomal dominant spastic paraplegia type 73Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndromeIdiopathic phalangeal acro-osteolysisCombined oxidative phosphorylation defect type 24Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiencyFamilial chylomicronemia syndromeSyndromic autoimmune enteropathy due to LRBA deficiency3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndromeJuvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndromeLimb-girdle muscular dystrophy due to POMK deficiencyNIK deficiencyCombined immunodeficiency due to DOCK2 deficiencyAggressive periodontitisAutosomal dominant spastic paraplegia type 9AAutosomal dominant spastic paraplegia type 9BAutosomal recessive spastic paraplegia type 9BIgG4-related sclerosing cholangitisSecondary sclerosing cholangitisKeratocystic odontogenic tumorMitochondrial pyruvate carrier deficiencyCerebral visual impairmentLipoyl transferase 2 deficiencyPolymerase proofreading-related polyposisIdiopathic dropped head syndromeHypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndromeTremor-ataxia-central hypomyelination syndromeCombined oxidative phosphorylation defect type 25Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndromeAutosomal dominant Charcot-Marie-Tooth disease type 2VKlippel-Feil anomaly-myopathy-facial dysmorphism syndromeProgressive scapulohumeroperoneal distal myopathy19p13.3 microduplication syndromeSpastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndromeCAD-CDGZika virus diseaseAutosomal recessive brachyolmiaProgressive autosomal recessive ataxia-deafness syndromeIsolated focal non-epidermolytic palmoplantar keratodermaRegressive spondylometaphyseal dysplasiaEctopia cordisPleural empyemaScedosporiosisSnakebite envenomationIgG4-related kidney diseaseIgG4-related aortitisIgG4-related pachymeningitisIgG4-related submandibular gland diseaseIgG4-related ophthalmic diseaseEosinophilic angiocentric fibrosisPolyclonal hyperviscosity syndromePrimary cutaneous plasmacytosisCutaneous pseudolymphomaFamilial congenital nasolacrimal duct obstructionNeurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndromeNeurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationCongenital insensitivity to pain with severe intellectual disabilityAutosomal recessive cerebellar ataxia due to CWF19L1 deficiencyPolyendocrine-polyneuropathy syndromeProgressive muscular atrophyAnti-p200 pemphigoidPlasma cell leukemiaHolmes-Adie syndromeEndometrioid carcinoma of ovaryVariably protease-sensitive prionopathyKuruIsolated tracheoesophageal fistulaAcute radiation syndromeAvian influenzaNTHL1-related polyposisCorticobasal syndrome1p35.2 microdeletion syndromeInfantile multisystem neurologic-endocrine-pancreatic diseaseHereditary sensory neuropathy-deafness-dementia syndromeX-linked myotubular myopathy-abnormal genitalia syndromeHereditary neuroendocrine tumor of small intestinePolyglucosan body myopathy type 2Autosomal dominant mitochondrial myopathy with exercise intoleranceTAFRO syndromeIsolated splenogonadal fusionPredisposition to invasive fungal disease due to CARD9 deficiencyActinomycosisNeonatal encephalomyopathy-cardiomyopathy-respiratory distress syndromeKAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndromeInfantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndromeProgressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndromeSyndromic sensorineural deafness due to combined oxidative phosphorylation defectX-linked intellectual disability-short stature-overweight syndromeClear cell sarcoma of kidneySquamous cell carcinoma of the oral tongueX-linked intellectual disability-hypotonia-movement disorder syndromeProgressive myoclonic epilepsy type 9Houge-Janssens syndrome type 1Houge-Janssens syndrome type 2Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndromeMegalencephaly-severe kyphoscoliosis-overgrowth syndromeIntellectual disability-muscle weakness-short stature-facial dysmorphism syndromeITPA-related lethal infantile neurological disorder with cataract and cardiac involvementComplex lethal osteochondrodysplasiaProgressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndromeMultiple mitochondrial dysfunctions syndrome type 4Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndromeIdiopathic spontaneous coronary artery dissectionComposite hemangioendotheliomaRetiform hemangioendotheliomaPapillary intralymphatic angioendotheliomaPartially involuting congenital hemangiomaMixed macro and microcystic lymphatic malformationSpinocerebellar ataxia type 41Spinocerebellar ataxia type 42Isolated lymphatic malformationAtaxia-oculomotor apraxia type 4Spondyloepiphyseal dysplasia, Stanescu typeAutosomal recessive spastic paraplegia type 75Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndromeX-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndromeCorpus callosum agenesis-macrocephaly-hypertelorism syndromeSpastic paraplegia-severe developmental delay-epilepsy syndromeShort stature-brachydactyly-obesity-global developmental delay syndromeDYRK1A-related intellectual disability syndromeIntellectual disability syndrome due to a DYRK1A point mutationVerrucous venous malformationMultifocal lymphangioendotheliomatosis-thrombocytopenia syndromeKaposiform lymphangiomatosisBENTA diseaseCatastrophic antiphospholipid syndromeBenign metanephric tumorNEK9-related lethal skeletal dysplasiaNeonatal alloimmune neutropeniaPrimary dystonia, DYT27 typeCOG6-CGDAcquired methemoglobinemiaParacetamol poisoningFever-associated acute infantile liver failure syndromeBasel-Vanagaite-Smirin-Yosef syndromeFamilial gastric type 1 neuroendocrine tumorFamilial cavitary optic disc anomalySymptomatic form of HFE-related hemochromatosisFetal encasement syndromeClass I glucose-6-phosphate dehydrogenase deficiencyExercise-induced malignant hyperthermiaCyanide poisoningScorpion envenomationEuthyroid Graves orbitopathySevere intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndromeSupratip dysplasiaTMEM199-CDGMartinique crinkled retinal pigment epitheliopathyAutosomal recessive spastic paraplegia type 77Familial patent arterial ductAutosomal dominant Charcot-Marie-Tooth disease type 2ZAutosomal recessive Charcot-Marie-Tooth disease type 2XNeonatal severe cardiopulmonary failure due to mitochondrial methylation defectMacrocephaly-intellectual disability-left ventricular non compaction syndromeAcute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndromeAutosomal dominant thrombocytopenia with platelet secretion defectChildhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndromeSeizures-scoliosis-macrocephaly syndromeVPS11-related autosomal recessive hypomyelinating leukodystrophyWAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndromeFacial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutationSMARCA4-deficient sarcoma of thoraxTubulinopathy-associated dysgyriaSevere hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndromeIntellectual disability-epilepsy-extrapyramidal syndromeMicrocephalic cortical malformations-short stature due to RTTN deficiencyCryptogenic multifocal ulcerous stenosing enteritisChronic enteropathy associated with SLCO2A1 geneAutosomal recessive spastic paraplegia type 74Isolated generalized anhidrosis with normal sweat glandsColobomatous macrophthalmia-microcornea syndromeWhite-Sutton syndromeCCDC115-CDGSLC39A8-CDGRhizomelic chondrodysplasia punctata type 5Severe primary trimethylaminuriaBVES-related limb-girdle muscular dystrophyHSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndromeErythrokeratodermia-cardiomyopathy syndromeCombined immunodeficiency due to TFRC deficiencyAutosomal dominant preaxial polydactyly-upperback hypertrichosis syndromeMicrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndromePMP2-related Charcot-Marie-Tooth disease type 1Congenital generalized hypercontractile muscle stiffness syndromeFibroblastic rheumatismIL21-related infantile inflammatory bowel diseasePostnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndromeCombined oxidative phosphorylation defect type 26Pediatric multiple sclerosisNodular fasciitisPontine autosomal dominant microangiopathy with leukoencephalopathyCombined oxidative phosphorylation defect type 27Primary condylar hyperplasiaCytosolic phospholipase-A2 alpha deficiency associated bleeding disorderProgressive microcephaly-seizures-cortical blindness-developmental delay syndromePMP22-RAI1 contiguous gene duplication syndromeKosaki overgrowth syndromeMendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiencyPalatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeCombined oxidative phosphorylation defect type 29Combined oxidative phosphorylation defect type 30Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndromeHereditary sensory and autonomic neuropathy type 8Progressive familial intrahepatic cholestasis type 5Progressive familial intrahepatic cholestasis type 4MYO5B-related progressive familial intrahepatic cholestasisCholedochal cystPrimary intrahepatic lithiasisIdiopathic ductopeniaCaroli syndromeIdiopathic peliosis hepatisLethal hydranencephaly-diaphragmatic hernia syndromeCongenital portosystemic shuntMSH3-related polyposisHigh grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangementAneurysmal bone cystIsolated neonatal sclerosing cholangitisPOGLUT1-related limb-girdle muscular dystrophy R21Facial diplegia with paresthesiasHereditary thrombocytopenia with early-onset myelofibrosisRecurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndromeX-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disabilityGlobal developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndromeX-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndromePYCR2-related microcephaly-progressive leukoencephalopathyFamilial Chilblain lupusPseudo-TORCH syndrome type 2Familial schizencephalyHTRA1-related autosomal dominant cerebral small vessel diseaseAdenylosuccinate synthetase-like 1-related distal myopathyX-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndromeAcquired schizencephalyCLCN4-related X-linked intellectual disability syndromePropylthiouracil embryofetopathy16p12.1p12.3 triplication syndromeEMILIN-1-related connective tissue diseaseMFF-related encephalopathy due to mitochondrial and peroxisomal fission defectIsolated congenital hepatic fibrosisPrenatal-onset spinal muscular atrophy with congenital bone fracturesCongenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndromeTakenouchi-Kosaki syndromePediatric collagenous gastritisAutosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutationPierpont syndromeMicrocephaly-congenital cataract-psoriasiform dermatitis syndromeFemale infertility due to oocyte meiotic arrestFamilial progressive retinal dystrophy-iris coloboma-congenital cataract syndromeSplit-foot malformation-mesoaxial polydactyly syndromeAcute macular neuroretinopathyOsteofibrous dysplasia14q32 duplication syndromeAutosomal dominant Charcot-Marie-Tooth disease type 2WCamptodactyly syndrome, Guadalajara type 3SIX2-related frontonasal dysplasiaCongenital amyoplasiaAutosomal recessive spastic paraplegia type 76Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndromeTransketolase deficiencySevere growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndromeTBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndromeEarly-onset epilepsy-intellectual disability-brain anomalies syndromeTELO2-related intellectual disability-neurodevelopmental disorderDDX41-related hematologic malignancy predisposition syndromeDistal myopathy, Tateyama typeVibratory urticariaRERE-related neurodevelopmental syndromeEarly-onset familial noncirrhotic portal hypertensionVulvar carcinomaSacrococcygeal teratomaExtracranial carotid artery aneurysmIdiopathic pleuroparenchymal fibroelastosisMIRAGE syndromeRetinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndromeDIAPH1-related sensorineural hearing loss-thrombocytopenia syndromeVulvar squamous cell carcinomaVulvar basal cell carcinomaVulvar adenocarcinomaInfantile-onset generalized dyskinesia with orofacial involvementChildhood-onset benign chorea with striatal involvementSquamous cell carcinoma of the hypopharynxSquamous cell carcinoma of the larynxCharcot-Marie-Tooth disease type 2T9q33.3q34.11 microdeletion syndromeC11ORF73-related autosomal recessive hypomyelinating leukodystrophyCerebello-oculo-facio-genital syndromeCongenital agenesis of the scrotumFamilial monosomy 7 syndromeEarly-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndromeKyphosis-lateral tongue atrophy-myofibrillar myopathy syndromeKyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndromeOmphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndromeEVEN-plus syndromeEarly-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndromeOcular anomalies-axonal neuropathy-developmental delay syndromeDiffuse intrinsic pontine gliomaEpidermolytic nevusMME-related autosomal dominant Charcot Marie Tooth disease type 2Spinocerebellar ataxia type 43Childhood-onset basal ganglia degeneration syndromePhyllodes tumor of the prostateMenstrual cycle-dependent periodic feverAquagenic palmoplantar keratodermaHyaline fibromatosis syndromeLRP5-related primary osteoporosisOvergrowth-metaphyseal undermodeling-spondylar dysplasia syndromeOvergrowth syndrome with 2q37 translocationMirror-image polydactylyShort rib-polydactyly syndrome type 5Sugarman brachydactylyMYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndromeCongenital syphilisChronic relapsing inflammatory optic neuritisIsolated optic neuritisRecurrent idiopathic neuroretinitisIdiopathic optic perineuritisPilomatrix carcinomaHao-Fountain syndrome due to 16p13.2 microdeletionInfantile-onset periodic fever-panniculitis-dermatosis syndromeTall stature-intellectual disability-renal anomalies syndromeMultinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndromeEarly-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndromeZTTK syndromeMicrocephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromeWitteveen-Kolk syndromeSIN3-related intellectual disability syndrome due to a point mutationChildhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorderX-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndromeSquamous cell carcinoma of the nasal cavity and paranasal sinusesSquamous cell carcinoma of the oropharynxPolyhydramnios-megalencephaly-symptomatic epilepsy syndromeSevere neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataractOsteosclerotic metaphyseal dysplasiaCochleovestibular malformationCochlear nerve deficiencySquamous cell carcinoma of the oral cavitySquamous cell carcinoma of the lipMitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndromeWeiss-Kruszka SyndromeSTAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome4q25 proximal deletion syndromeAlkaline ceramidase 3 deficiencyErythema multiforme majorCerebellar ataxia with neuropathy and bilateral vestibular areflexia syndromeT-B+NK+ severe combined immunodeficiency due to LAT deficiencyCombined immunodeficiency due to Moesin deficiency3-methylglutaconic aciduria type 83-methylglutaconic aciduria type 9Combined immunodeficiency due to GINS1 deficiencyEarly-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndromePsychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndromeMucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disordersVentilator-induced diaphragmatic dysfunctionCDKL5-deficiency disorderNon-functioning neuroendocrine tumor of pancreasSerotonin-producing neuroendocrine tumor of pancreasNeuroendocrine carcinoma of pancreasMixed neuroendocrine and non-neuroendocrine neoplasm of pancreasNeuroendocrine neoplasm of esophagusStromme syndromeFamilial steroid-resistant nephrotic syndrome with adrenal insufficiencyAutosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunctionGabriele-de Vries syndromeStevens-Johnson syndrome/toxic epidermal necrolysis overlap syndromeMEPAN syndromeFamilial intestinal malrotationCleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome8q24.3 microdeletion syndromeIntellectual disability-cardiac anomalies-short stature-joint laxity syndromeOrofaciodigital syndrome type 18Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndromeHyperphenylalaninemia due to DNAJC12 deficiencyIntermediate epidermolysis bullosa simplex with cardiomyopathySkeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeCongenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndromeChronic lymphoproliferative disorder of natural killer cellsAutosomal recessive epidermolytic ichthyosisCongenital cerebellar ataxia due to RNU12 mutationAutosomal recessive spastic paraplegia type 78Intellectual disability-seizures-abnormal gait-facial dysmorphism syndromeCongenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndromeCongenital cystic eyeIsolated congenital entropionAutosomal recessive anterior segment dysgenesisIsolated blepharochalasisIsolated iridoschisisIsolated microspherophakiaIsolated foveal hypoplasiaPeripapillary staphylomaIsolated megalopapillaOptic disc pitThygeson superficial punctate keratitisMooren ulcerTerrien marginal degenerationFungal keratitisRadiation-induced plexopathyOsteoradionecrosis of the mandibleMirizzi syndromeXq25 microduplication syndromeSodium-dependent multivitamin transporter deficiencyProximal myopathy with focal depletion of mitochondriaFrontonasal dysplasia-bifid nose-upper limb anomalies syndromeSpastic paraplegia-intellectual disability-nystagmus-obesity syndromeDystonia-parkinsonism-hypermanganesemia syndromeAutosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defectAutosomal dominant Charcot-Marie-Tooth disease type 2DDPLAA-associated neurodevelopmental disorderCongenital cataract-severe neonatal hepatopathy-global developmental delay syndromeCongenital vertebral-cardiac-renal anomalies syndromeMicrocephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndromeLAMA5-related multisystemic syndromePrimary autoimmune enteropathyInfantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndromePediatric-onset Graves diseasePrepubertal anorexia nervosaEncephalopathy due to mitochondrial and peroxisomal fission defectSevere myopia-generalized joint laxity-short stature syndromeDiaphragmatic hernia-short bowel-asplenia syndromeNKX6-2-related autosomal recessive hypomyelinating leukodystrophyNon-specific syndromic intellectual disabilityHydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndromeHypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndromeHereditary angioedema with C1Inh deficiencyHereditary angioedema with normal C1InhAcquired angioedema with C1Inh deficiencyMonoclonal mast cell activation syndromeDuane retraction syndrome with congenital deafnessNeurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndromeAcute bilirubin encephalopathyChronic bilirubin encephalopathyLetrozole toxicityCombined hepatocellular carcinoma and cholangiocarcinomaSecondary erythromelalgia17q24.2 microdeletion syndromeIntellectual disability-autism-speech apraxia-craniofacial dysmorphism syndromeMale infertility due to acephalic spermatozoaImmune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndromeImmune dysregulation-inflammatory bowel disease- recurrent sinopulmonary infections syndromeDermoid or epidermoid cyst of the central nervous systemProgressive myoclonic epilepsy with neuroserpin inclusion bodiesProgressive dementia with neuroserpin inclusion bodiesRELA fusion-positive ependymomaKRT1-related diffuse nonepidermolytic keratodermaFamilial apolipoprotein A5 deficiencyLamb-Shaffer syndromeMixed phenotype acute leukemia9q21.13 microdeletion syndromeFamilial lipase maturation factor 1 deficiencyFamilial GPIHBP1 deficiencyB3GALT6-related spondylodysplastic Ehlers-Danlos syndromeSpondylodysplastic Ehlers-Danlos syndromeMyopathic Ehlers-Danlos syndromeClassical-like Ehlers-Danlos syndrome type 2Kyphoscoliotic Ehlers-Danlos syndromePLG-related hereditary angioedema with normal C1InhAutosomal recessive lethal neonatal axonal sensorimotor polyneuropathyCongenital axonal neuropathy with encephalopathyPalmoplantar keratoderma-hereditary motor and sensory neuropathy syndromeFamilial multiple discoid fibromasClassic pyoderma gangrenosumPustular pyoderma gangrenosumBullous pyoderma gangrenosumVegetative pyoderma gangrenosumX-linked lymphoproliferative disease due to SAP deficiencyX-linked lymphoproliferative disease due to XIAP deficiencyEBV-induced lymphoproliferative disease due to CD70 deficiencyCombined immunodeficiency due to ITK deficiencyGrowth delay-intellectual disability-hepatopathy syndromeAnomalous aortic origin of the left coronary arteryAnomalous aortic origin of the right coronary arteryAnomalous origin of coronary artery from the pulmonary arteryEBV-induced lymphoproliferative disease due to CARMIL2 deficiencyGNB5-related intellectual disability-cardiac arrhythmia syndromeLeukoencephalopathy with calcifications and cystsT-cell based immunotherapy-associated cytokine release syndromeQuadricuspid aortic valveAuditory neuropathy-optic atrophy syndromeNecrobiosis lipoidicaLivedoid vasculopathyIsolated hyperchlorhidrosisOptic atrophy-ataxia-peripheral neuropathy-global developmental delay syndromeSYNGAP1-related developmental and epileptic encephalopathyPRUNE1-related neurological syndromeAtypical hemolytic uremic syndrome with complement gene abnormalityInfection-related hemolytic uremic syndromeGlobal developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndromeStreptococcus pneumoniae-associated hemolytic uremic syndromeRNF13-related severe early-onset epileptic encephalopathyCongenital primary megaureter, refluxing and obstructed formCongenital myopathy with reduced type 2 muscle fibersAtypical Fanconi syndrome-neonatal hyperinsulinism syndromeNAD(P)HX dehydratase deficiencyNAD(P)HX epimerase deficiencyFibrohistiocytic inflammatory pseudotumor of the liverLymphoplasmacytic inflammatory pseudotumor of the liverCongenital tricuspid valve dysplasiaFLNA-related X-linked myxomatous valvular dysplasiaIgA pemphigusEarly-onset familial hypoaldosteronismLate-onset familial hypoaldosteronismPancreatic agenesis-holoprosencephaly syndromeEarly-onset calcifying leukoencephalopathy-skeletal dysplasiaOculoskeletodental syndromeSpastic ataxia-dysarthria due to glutaminase deficiencyNeonatal epileptic encephalopathy due to glutaminase deficiencyIdiopathic gastroparesisFOXG1 syndromeHeme oxygenase-1 deficiencyCongenital limbs-face contractures-hypotonia-developmental delay syndromeAutosomal recessive extra-oral halitosisAnterior maxillary protrusion-strabismus-intellectual disability syndromeTMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndromePrimary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndromeAutoimmune hepatitis type 1Autoimmune hepatitis type 2Seronegative autoimmune hepatitisIsolated anencephalyIsolated exencephalySerous cystadenoma of childhoodMucinous cystadenoma of childhoodSeromucinous cystadenoma of childhoodFuruncular myiasis due to Dermatobia hominisFuruncular myiasis due to Cordylobia anthropophagaFuruncular myiasis due to Cordylobia rodhainiSyndromic congenital sodium diarrheaIsolated congenital aglossiaIsolated congenital hypoglossiaOsteochondrosis of the tarsal boneOsteochondrosis of the metatarsal bonePrimary hypomagnesemia-refractory seizures-intellectual disability syndromePrimary triglyceride deposit cardiomyovasculopathyCombined oxidative phosphorylation defect type 39Primary desmosis coliMethotrexate toxicityInfantile inflammatory bowel disease with neurological involvementLaminin subunit alpha 2-related limb-girdle muscular dystrophy R23Craniosynostosis-microretrognathia-severe intellectual disability syndromePOMGNT2-related limb-girdle muscular dystrophy R24Calpain-3-related limb-girdle muscular dystrophy D4CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndromeComplement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndromeCongenital autosomal recessive small-platelet thrombocytopeniaResistance to thyroid hormone due to a mutation in thyroid hormone receptor alphaResistance to thyroid hormone due to a mutation in thyroid hormone receptor betaAcute mast cell leukemiaChronic mast cell leukemiaLiver adenomatosisAprosencephaly/atelencephaly spectrumAtelencephalyAprosencephalyLeft isomerismMueller-Weiss syndromeB-cell immunodeficiency-limb anomaly-urogenital malformation syndromeIdiopathic non-lupus full-house nephropathyIdiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistanceIdiopathic steroid-resistant nephrotic syndromeIdiopathic multidrug-resistant nephrotic syndromeIdiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapyParenteral nutrition-associated cholestasisGJC2-related late-onset primary lymphedemaWarts-immunodeficiency-lymphedema-anogenital dysplasia syndromePIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalisEPHB4-related lymphatic-related hydrops fetalisAngiomatoid fibrous histiocytomaMicrocystic stromal tumorMultiple mitochondrial dysfunctions syndrome type 5Multiple mitochondrial dysfunctions syndrome type 6CELSR1-related late-onset primary lymphedemaCongenital primary lymphedema of GordonBartter syndrome type 5Galactose mutarotase deficiencyIdiopathic multicentric Castleman diseaseHHV-8-associated multicentric Castleman diseaseRicin poisoningQRSL1-related combined oxidative phosphorylation defectInfective endocarditisPosterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndromeBlepharophimosis-ptosis-epicanthus inversus syndrome plusBlepharophimosis-ptosis-epicanthus inversus syndrome type 1Blepharophimosis-ptosis-epicanthus inversus syndrome type 2Brachydactyly type B1Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemiaRFVT2-related riboflavin transporter deficiencyRFVT3-related riboflavin transporter deficiencyDONSON-related microcephaly-short stature-limb abnormalities spectrumMicrocephaly-micromelia syndromeMicrocephaly-short stature-limb abnormalities syndromeWARS2-related combined oxidative phosphorylation defectSplit cord malformation type IIPredisposition to severe viral infection due to IRF7 deficiencyMendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiencyCARASALMiddle East respiratory syndromeComplete atrioventricular septal defect without ventricular hypoplasiaPartial atrioventricular septal defect with ventricular hypoplasiaPartial atrioventricular septal defect without ventricular hypoplasiaIntermediate atrioventricular septal defectSATB2-associated syndromeSATB2-associated syndrome due to a pathogenic variantNLRC4-related familial cold autoinflammatory syndromeVariant Creutzfeldt-Jakob diseaseIatrogenic Creutzfeldt-Jakob diseaseIntraductal tubulopapillary neoplasm of pancreasLethal brain and heart developmental defectsQRICH1-related intellectual disability-chondrodysplasia syndromePunctate inner choroidopathyCramp-fasciculation syndromeCongenital infiltrating lipomatosis of the faceSerine biosynthesis pathway deficiency, infantile/juvenile formNeu-Laxova syndrome due to phosphoserine aminotransferase deficiencyNeu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiencyNeu-Laxova syndrome due to 3-phosphoserine phosphatase deficiencyIsolated splenic vein thrombosisIsolated mesenteric vein thrombosisAcute myeloid leukemia with t(9;22)(q34.1;q11.2)B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)B-lymphoblastic leukemia/lymphoma with hyperdiploidyB-lymphoblastic leukemia/lymphoma with hypodiploidyB-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)Sporadic fatal insomniaSpondylometaphyseal dysplasia-corneal dystrophy syndromeShort stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndromePUM1-associated developmental disability-ataxia-seizure syndromeSpinocerebellar ataxia type 46Spinocerebellar ataxia type 45Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)Myeloid/lymphoid neoplasm associated with JAK2 rearrangementGRIN2B-related developmental delay, intellectual disability and autism spectrum disorderMixed phenotype acute leukemia with t(v;11q23.3)Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomaliesDystonia 28Congenital-onset Steinert myotonic dystrophyChildhood-onset Steinert myotonic dystrophyJuvenile-onset Steinert myotonic dystrophyAdult-onset Steinert myotonic dystrophyLate-onset Steinert myotonic dystrophyChoanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndromePHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndromeIsolated melanotic schwannomaGNAO1-related developmental delay-seizures-movement disorder spectrumTRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndromeMenke-Hennekam syndromeNeuromyelitis optica spectrum disorder with anti-AQP4 antibodiesNeuromyelitis optica spectrum disorder with anti-MOG antibodiesNeuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodiesAcute transverse myelitis with anti-MOG antibodiesAcute disseminated encephalomyelitis with anti-MOG antibodiesAcute disseminated encephalomyelitis without anti-MOG antibodiesTimothy syndrome type 1Timothy syndrome type 2Atypical Timothy syndromePerivascular epithelioid cell neoplasmLocalized dystrophic epidermolysis bullosaAntley-Bixler syndrome without genital anomaly or disorder of steroidogenesisIgG4-related systemic diseaseVEXAS syndromeRELA haploinsufficiency-associated inflammatory diseasePortosinusoidal vascular diseaseIncomplete septal cirrhosisTRIM22-related inflammatory bowel diseaseIRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndromeOculocutaneous albinism type 8Luscan-Lumish syndromeSETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndromeBlepharophimosis-intellectual disability syndrome/genitopatellar overlap syndromeMTHFS-related developmental delay-microcephaly-short stature-epilepsy syndromeALPI-related inflammatory bowel diseaseEuthyroid dysprealbuminemic hyperthyroxinemiaFOXG1 syndrome due to intragenic alterationUpper tract urothelial carcinomaMultisystem inflammatory syndrome in children and adultsFacial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndromeCHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndromeSTXBP1-related developmental and epileptic encephalopathyHypomyelination of early myelinating structuresHereditary angioedema with normal C1Inh not related to F12 or PLG variantAcquired hemophilia AAcquired hemophilia BAcquired factor V deficiencyAcquired factor VII deficiencyAcquired factor X deficiencyAcquired factor XI deficiencyAcquired factor XIII deficiencyFactor V short isoforms-related bleeding disorderFactor V Amsterdam bleeding disorderFactor V Atlanta bleeding disorderNRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbanceCCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndromeCombined deficiency of factor VII and factor XClark-Baraitser syndromeNon-syndromic perineal fistulaNon-syndromic rectourethral fistulaNon-syndromic rectourethral fistula, bulbar typeNon-syndromic rectourethral fistula, prostatic typeNon-syndromic rectovesical fistulaNon-syndromic vestibular fistulaNon-syndromic cloacal malformationNon-syndromic anorectal malformation without fistulaNon-syndromic anal stenosisNon-syndromic pouch colonNon-syndromic rectal atresiaNon-syndromic rectal stenosisNon-syndromic rectovaginal fistulaNon-syndromic H-type fistulaCerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndromeColoboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndromeIsolated female hypospadiasKLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndromeKLHL7-related Bohring-Opitz-like syndromeKLHL7-related Crisponi/cold-induced sweating-like syndromeSymptomatic form of X-linked centronuclear myopathy in female carriersKIAA1109-related early lethal congenital brain malformations-arthrogryposis syndromeCLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndromeOculogastrointestinal-neurodevelopmental syndromeSpondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndromeAplastic anemia-intellectual disability-dwarfism syndromeEN1-related dorsoventral syndromeParkinsonism with polyneuropathyPontocerebellar hypoplasia type 11Pontocerebellar hypoplasia type 12Pontocerebellar hypoplasia type 13Pontocerebellar hypoplasia type 14Spastic paraparesis-cataracts-speech delay syndromeGranuloma facialeLethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndromeAcute reversible leukoencephalopathy with increased urinary alpha-ketoglutarateChronic intervillositis of unknown etiologyLethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutationLethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene clusterRare disorder without a determined diagnosis after full investigationTwin anemia-polycythemia sequenceTwin-reversed arterial perfusion sequenceSelective intrauterine growth restrictionAmniotic fluid embolismClassic eosinophilic pustular folliculitisPainful legs and moving toes syndromeCongenital aphakia-iris hypoplasia-microphthalmia-microcornea syndromeConjunctival malignant melanomaDiffuse idiopathic pulmonary neuroendocrine cell hyperplasiaF12-associated cold autoinflammatory syndromeHemophilia B LeydenChronic neurovisceral acid sphingomyelinase deficiencyHereditary persistence of fetal hemoglobin-intellectual disability syndromeNOCARH syndromeSAMD9L-associated autoinflammatory syndromeCongenital neutropenia-combined immunodeficiency due to MKL1 deficiencyEarly-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiencyFamilial hyperinflammatory lymphoproliferative immunodeficiencyCADINS diseaseDevelopmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndromeNon-syndromic unicoronal craniosynostosisNon-syndromic unilambdoid craniosynostosisNon-syndromic unifrontosphenoidal craniosynostosisNon-syndromic unisquamosal craniosynostosisNon-syndromic non-specific multisutural craniosynostosisNon-syndromic bilambdoid craniosynostosisNon-syndromic unicoronal and sagittal craniosynostosisNon-syndromic metopic and sagittal craniosynostosisNon-syndromic bicoronal and metopic craniosynostosisNon-syndromic bicoronal and sagittal craniosynostosisNon-syndromic pansynostosisBartter syndrome type 1Bartter syndrome type 2Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndromeEGF-related primary hypomagnesemia with intellectual disabilityGitelman-like kidney tubulopathy due to mitochondrial DNA mutationFibrosis-neurodegeneration-cerebral angiomatosis syndromeSuperior mesenteric artery syndromeX-linked severe syndromic thoracic aortic aneurysm and dissectionSBDS-related severe neonatal spondylometaphyseal dysplasiaAutoimmune limbic encephalitisParaneoplastic cerebellar degenerationMIR140-related spondyloepiphyseal dysplasiaBody integrity dysphoriaAcute flaccid myelitisNon-specific autoimmune supratentorial encephalitis with characteristic antibodiesNon-specific autoimmune supratentorial encephalitis without characteristic antibodiesParaneoplastic isolated brainstem encephalitisNon-specific autoimmune brainstem encephalitis with characteristic antibodiesNon-specific autoimmune brainstem encephalitis without characteristic antibodiesPostinfectious cerebellitisNon-specific autoimmune cerebellar ataxia with characteristic antibodiesNon-specific autoimmune cerebellar ataxia without characteristic antibodiesAutosomal dominant spastic paraplegia type 80Autosomal recessive spastic paraplegia type 82Autosomal recessive spastic paraplegia type 83Autosomal recessive spastic paraplegia type 84Autosomal recessive spastic paraplegia type 85Autosomal recessive spastic paraplegia type 86Autosomal recessive spastic paraplegia type 87Spinocerebellar ataxia type 44Spinocerebellar ataxia type 48Spinocerebellar ataxia type 49Mitchell SyndromeCancer of unknown primary siteMesomelic dysplasia-digital anomalies-intellectual disability syndromeKDM3B-related intellectual disability-facial dysmorphism-short stature syndromeSLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndromeSLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndromeSLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndromeCPE-related Prader-Willi-like syndromeIntellectual disability-early-onset cataract-microcephaly syndromeSplit cord malformation, composite typePAICS deficiencyInvasive scopulariopsis infectionPreaxial digit brachydactyly-webbed fingersIsolated proximal femoral focal deficiencyMosaic neurofibromatosis type 1Mosaic NF2-related schwannomatosisMosaic schwannomatosisMosaic Legius syndromeVascular Ehlers-Danlos-polymicrogyria syndromeInvasive candidiasisGlaucomatocyclitic crisis diseaseEndemic pemphigus foliaceusAutosomal dominant myosin storage myopathyAutosomal recessive myosin storage myopathySMARCA2-related blepharophimosis-intellectual disability syndromeBorna virus encephalitisIsolated optic nerve hypoplasiaIsolated optic nerve aplasiaImmunotherapy induced hypophysitisInfantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndromeNeurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndromeAutosomal recessive hyper-IgE syndrome due to ZNF341 deficiencyB-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)B-lymphoblastic leukemia/lymphoma with t(17;19)PAPASH syndromePASS syndromePsAPASH syndromeChildhood-onset schizophreniaNeonatal compartment syndromePrimary pulmonary vein stenosisEXOC6B-related spondyloepimetaphyseal dysplasia with joint laxitySpondyloepimetaphyseal dysplasia with joint laxity, Beighton typeFamilial hyperaldosteronism type IVCHD8 overgrowth syndromeFragile X-associated primary ovarian insufficiencyPUM1-related cerebellar ataxiaAutosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutationCushing syndrome due to cortisol-producing adrenocortical adenomaPerrault syndrome type 1Autosomal recessive ataxia due to PEX16 deficiencyAutosomal recessive ataxia due to PEX2 deficiencyPerrault syndrome type 2Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndromeHao-Fountain syndrome due to USP7 mutationHao-Fountain syndromeSpinal dermal sinusChaotic conus spinal cord lipomaTerminal extramedullary conus spinal cord lipomaTransitional extramedullary conus spinal cord lipomaPosterior extramedullary conus spinal cord lipomaExtramedullary conus spinal cord lipomaLipomatous non-saccular limited dorsal myeloschisisFibroneural non-saccular limited dorsal myeloschisisIsolated transitional filum lipomaIsolated filum lipomaRetained medullary cordTerminal myelocystoceleNon-terminal myelocystoceleNon-saccular limited dorsal myeloschisisSegmental arterial mediolysisSaccular limited dorsal myeloschisisIntramedullary non-dysraphic spinal cord lipomaDorsal spinal cord lipomaMyelic limited dorsal malformationTrue myelomeningoceleHemi-myelomeningoceleHemi-myeloschisisMyeloschisisTrue myeloschisisClassical dermatomyositisAmyopathic dermatomyositisAdermatopathic dermatomyositisCongenital esophageal stenosisSpontaneous intestinal perforationPrimary pulmonary tuberculosisMultifocal tuberculosisIntermediate collagen VI-related muscular dystrophyDysplastic cortical hyperostosis, Al-Gazali typeDysplastic cortical hyperostosisCDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndromeMandibuloacral dysplasia associated to MTX2Multiple epiphyseal dysplasia type 7Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndromeIsolated primary pigmented nodular adrenocortical diseaseIsolated micronodular adrenocortical diseaseNeurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndromeIsolated persistent urogenital sinusMYT1L-related developmental delay-intellectual disability-obesity syndromeCombined immunodeficiency due to FCHO1 deficiencyCardiac-urogenital syndromeKeratitis fugax hereditariaIdiopathic pregnancy-associated osteoporosisSLC40A1-related hemochromatosisConjoined twinsFerroportin diseaseDigenic hemochromatosisInfectious scleritisIdiopathic scleritisImmune-mediated scleritisCentral retinal artery occlusionIdiopathic catatoniaNon-syndromic bridging bronchusNon-syndromic congenital bronchial atresiaIsolated left bronchial isomerismGenetic central precocious puberty in femaleSecondary central precocious puberty in femalePrimary central precocious puberty in maleSecondary central precocious puberty in maleGenetic central precocious puberty in maleNon-genetic central precocious puberty in maleDevelopmental delay-overweight-facial dysmorphism-behavioral abnormalities syndromeCleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutationCleft palate-congenital heart defect-intellectual disability syndromePeriodic fever-immunodeficiency-thrombocytopenia syndromeSupernumerary kidneyAdult-onset progressive leukoencephalopathy-early-onset deafnessNodal T-follicular helper cell lymphoma, follicular typeMonomorphic epitheliotropic intestinal T-cell lymphomaPrimary superior vena cava aneurysmPrimary inferior vena cava aneurysmIdiopathic subglottic stenosisLymphocytic mastitisCone rod dystrophy-short stature syndromeCHD4-related neurodevelopmental disorderDigenic Alport syndromeAutosomal recessive limb-girdle muscular dystrophy, type 28Congenital insensitivity to pain syndrome, Marsili typeX-linked combined immunodeficiency due to SASH3 deficiencyJansen-de Vries syndromeMitochondrial short-chain enoyl-CoA hydratase 1 deficiencyAtrophic papulosisBenign atrophic papulosisSegmental spinal dysgenesisPBX1-related congenital anomalies of kidney-urinary tract syndromeIntellectual disability-cupped ears syndrome1p36.33 duplication syndromeAutosomal recessive combined immunodeficiency due to complete IL6ST deficiencyAutosomal recessive combined immunodeficiency due to partial IL6ST deficiencyAutosomal dominant combined immunodeficiency due to partial IL6ST deficiencyAutosomal recessive combined immunodeficiency due to IL6R deficiencyEmbryonal tumor with multilayered rosettesAutosomal dominant combined immunodeficiency due to ERBIN deficiency16q22 deletion syndromeIdiopathic small fibers neuropathyIsolated pulmonary artery slingRowell syndromeEyelid sebaceous carcinomaDNMT3A-related microcephalic dwarfismTransplant-related bronchiolitis obliteransNon-transplant-related bronchiolitis obliteransCOQ7-related distal hereditary motor neuropathyGreig cephalopolysyndactyly-contiguous gene syndromeAtrophoderma of Pasini and PieriniCombined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiencyDevelopmental delay-ataxia-hypotonia-facial dysmorphism syndromeFasciolopsiasisParagonimiasisClonorchiasisEarly-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiencyEarly-onset immune dysregulation due to DOCK11 complete deficiencyCohen-Gibson syndromeImagawa-Matsumoto syndromeFacial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndromeSingle isolated optic neuritisRelapsing isolated optic neuritisRauch-Steindl syndromeHarderoporphyriaIntrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndromeYersinia pseudotuberculosis infectionOcular surface squamous neoplasiaOroya feverVerruga peruanaWormian bones-micrognathia-abnormal dentition-progeroid syndromeMultiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndromeGlandersSensorineural hearing loss-spastic quadriplegia-intellectual disability syndromeDevelopmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutationDevelopmental delay-language impairment-dopa responsive dystonia-parkinsonism syndromeOrofacial clefting-cardiac anomalies-facial dysmorphism syndromePsittacosisMegaloblastic anemia-immunodeficiency due to folate transporter 1 deficiencyMBD4-related tumor predisposition syndromePhelan-McDermid syndrome due to 22q13.3 deletionPhelan-McDermid syndrome due to SHANK3 mutationMacrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndromeMicrocephaly-hearing loss-facial dysmorphism-intellectual disability syndromeCongenital muscular dystrophy-cataract-intellectual disability syndromeNeurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndromeNeurodevelopmental delay-intellectual disability-skeletal defects syndromeNeurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndromeMucopolysaccharidosis type 10Episodic memory defect leukoencephalopathyNeurodevelopmental delay-congenital heart defects-intellectual disability syndromeFrey syndromeGrisel syndromeNESCAV syndromeIsolated gastric duplicationIsolated gallbladder duplicationIsolated colonic duplicationIsolated pyloric duplicationIsolated small intestine duplicationIsolated duodenal duplicationIsolated jejuno-ileal duplicationPlacenta accreta spectrum disorderMotor delay-microcephaly-speech impairment-ocular abnormalities syndromeVasa previaIntellectual disability-speech delay-dysmorphic features-T cell abnormalities syndromeAcute megakaryoblastic leukemia in adultSoft and hard cleft palateMGP-related spondyloepiphyseal dysplasiaCardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation6q25.1 microdeletion syndromeBrain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndromeBrain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutationNeurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndromeGingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndromeHermansky-Pudlak syndrome due to AP3B1 deficiencyEarly-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiencyEBV-induced lymphoproliferative disease due to RASGRP1 deficiencyEBV-induced lymphoproliferative disease due to PRKCD deficiencyEBV-induced lymphoproliferative disease due to CD137 deficiencyEBV-induced lymphoproliferative disease due to TET2 deficiencyNicolau syndromeTrigeminal trophic syndromeNeonatal renal venous thrombosisCongenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndromeCommon arterial trunk with aortic dominanceCommon arterial trunk with pulmonary dominance and interrupted aortic archIsolated congenital femoral bifurcationBreast implant-associated anaplastic large cell lymphomaIntraoral basal cell carcinomaCraniosynostosis-facial dysmorphism-brachydactyly syndromeCraniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndromeIntravascular papillary endothelial hyperplasiaLittoral cell hemangioma of the spleenPapillary hemangiomaPseudomyogenic hemangioendotheliomaEccrine angiomatous hamartomaReactive angioendotheliomatosisClassic pilocytic astrocytomaPilocytic astrocytoma with histological features of anaplasiaActinomyopathy-associated syndromic thrombocytopeniaEarly-onset autoinflammatory syndrome due to A20 haploinsufficiencyIsolated retinal racemose hemangiomaPerifoveal exudative vascular anomalous complexTorpedo MaculopathyIsolated angioid streaksDiffuse unilateral subacute neuroretinitisMultiple evanescent white dot syndromeStellate multiform amelanotic choroidopathyChoroidal osteomaBilateral diffuse uveal melanocytic proliferation diseaseSpinocerebellar ataxia type 27BAnastomosing hemangiomaHobnail hemangiomaMicrovenular hemangiomaIsolated segmental infantile hemangiomaEpithelioid hemangiomaMay-Thurner syndromeAcquired elastotic hemangiomaTLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndromeSevere congenital neutropenia-developmental delay syndrome due to SRP54 deficiencySevere congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndromeProgressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSNAdenomatoid tumor of the pleuraWell-differentiated papillary mesothelial tumor of the pleuraLocalized pleural mesotheliomaDiffused pleural mesotheliomaPleural mesothelioma in situAdenomatoid tumor of the peritoneumWell-differentiated papillary mesothelial tumor of the peritoneumPeritoneal mesothelioma in situCombined immunodeficiency due to FOXN1 haploinsufficiencyX-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiencyIntellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndromeIntellectual disability-hypotonia-facial dysmorphism-macrocephaly syndromeIntellectual disability-epilepsy-dental anomalies-facial dysmorphism syndromeNeurodevelopmental disorder-spasticity-movement disorder-epileptic syndromeIsolated growth hormone deficiency type IVHypertrophic olivary degenerationNeurooculocardiogenitourinary syndrome2q13 microdeletion syndromeIsolated anal canal duplicationPrimary pericardial mesotheliomaMesothelioma of the tunica vaginalisCombined immunodeficiency due to TBX1 mutationHypodontia-scalp hypotrichosis-facial dysmorphism syndromePediatric acute respiratory distress syndromeNon-fibrotic hypersensitivity pneumonitisFibrotic hypersensitivity pneumonitisPost 5-alpha-reductase inhibitors treatment syndromePost-selective serotonin reuptake inhibitor sexual dysfunctionBPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndromeRNU4-2-related autosomal dominant neurodevelopmental disorderMADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndromeIsolated congenital cholesteatoma of the middle earLipodystrophy-demyelinating peripheral sensory-motor neuropathy syndromeZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion10p13-p14 deletion syndromeUnifocal Langerhans cell histiocytosisPulmonary Langerhans cell histiocytosisSingle-system multifocal Langerhans cell histiocytosisMultisystem Langerhans cell histiocytosisSplenic venous malformationT-B-NK- reticular dysgenesis-like severe combined immunodeficiencyMidface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndromeCombined immunodeficiency due to RELB deficiencyTurnpenny-Fry syndromeIsolated adrenal medullary hyperplasiaScarlet feverIsolated spontaneous cervical artery dissectionAsymptomatic hyperCKemia-myalgia-rhabdomyolysis syndromeIFIH1-related hereditary spastic paraplegiaRNASEH2B-related hereditary spastic paraplegiaPoirier-Bienvenu neurodevelopmental syndromeAcquired hypothalamic obesityShashi-Pena syndromeOkur-Chung neurodevelopmental syndromeAdenoid ameloblastomaStructural heart defects-renal anomalies syndromeMicrophthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndromeMarbach-Schaaf neurodevelopmental syndromeCHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndromeIsolated anogenital granulomatosisCerebral proliferative angiopathyIdiopathic triglyceride deposit cardiomyovasculopathyTriglyceride deposit cardiomyovasculopathyATP6AP1-CDGRAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndromeFacial dysmorphism-Intellectual disability-rhombencephalosynapsis syndromeAgammaglobulinemia-skin involvement-failure to thrive syndromeAgammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndromeActivated PI3K-delta syndrome 1Activated PI3K-delta syndrome 2Uterine arteriovenous malformationPancreatic arteriovenous malformationGastrointestinal tract arteriovenous malformationRenal arteriovenous malformationHepatic arteriovenous malformationSplenic arteriovenous malformationGallblader arteriovenous malformationUrinary tract arteriovenous malformationRASA1-related capillary malformation-arteriovenous malformationEPHB4-related capillary malformation-arteriovenous malformationCongenital intrahepatic arterioportal fistulaZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndromeZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to a point mutationADAR-related hereditary spastic paraplegiaChildhood-onset stress-induced neurodegenerative ataxia-seizure syndromeIntellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiencyAlazami-Yuan syndromeIntellectual disability-lymphoid hypertrophy-macrocephaly syndromeInflammatory breast cancerUrachal carcinomaPure squamous carcinoma of the urothelial tractGiant omphaloceleSmall omphaloceleMAN2B2-CDGAcinar cystic transformation of the pancreasInfant-type hemispheric gliomaSickle cell-beta zero-thalassemiaSickle cell-beta plus-thalassemiaCombined immunodeficiency due to dimerization defective IKAROS mutationLate-onset combined immunodeficiency due to ICOS deficiencyLate-onset combined immunodeficiency due to ICOSL deficiency3q27.1 microdeletion syndromePrimary vitreoretinal large B-cell lymphomaEDEM3-CDGImmunodeficiency-systemic inflammation-lymphoma predisposition syndromePLIN4-related distal myopathyCentral giant cell granulomaEncapsulating peritoneal sclerosisCongenital generalized lipodystrophy type 1Congenital generalized lipodystrophy type 3PPARG-associated congenital generalized lipodystrophyCongenital generalized lipodystrophy type 2Female adnexal tumor of probable Wolffian originCommon variable immunodeficiency phenotype due to germinal digenic/polygenic mutationsCommon variable immunodeficiency phenotype due to somatic mutationsNFKB1-related immune dysregulationCommon variable immunodeficiency phenotype due to CD19/CD81 deficiencyCommon variable immunodeficiency phenotype due to CD21 deficiencyCongenital megaprepuceCommon variable immunodeficiency phenotype due to IRF2BP2 deficiencyCommon variable immunodeficiency phenotype due to homozygous TACI deficiencyAdult-onset common variable immunodeficiency due to BAFF-receptor deficiencyCommon variable immunodeficiency phenotype due to TWEAK deficiencyChildhood-onset common variable immunodeficiency phenotype due to ARHGEF1 deficiencyX-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiencyTalaromycosisGlobal developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndromeEmergomycosisCryptosporidiosisFontaine progeroid syndromeLymphoepithelial cyst of the pancreasInfantile epileptic spasms syndromeCongenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndromeCombined immunodeficiency-cancer predisposing syndrome due to AIOLOS deficiencyCombined immunodeficiency due to HELIOS deficiencyCombined immunodeficiency due to c-REL deficiencyCombined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiencyEarly-onset combined immunodeficiency with low Ig due to dominant negative IKAROS mutationCommon variable immunodeficiency phenotype due to SEC61A1 deficiencyST3GAL3-CDGIntellectual disability-nasal speech-craniofacial dysmorphism syndromeIntellectual disability-nasal speech-craniofacial dysmorphism syndrome due to CNOT2 mutationCongenital peritoneal encapsulationEpilepsy with generalized tonic-clonic seizures aloneFibromuscular dysplasiaFibromuscular dysplasia of the cervical and intracranial arteriesFibromuscular dysplasia of the renal arteriesFibromuscular dysplasia of the coronary arteriesFibromuscular dysplasia of the visceral arteriesFibromuscular dysplasia of the arteries of the extremitiesGlobal developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndromeOphthalmological abnormalities-facial dysmorphism-intellectual disability syndromeCarotid webAutoimmune heparin-induced thrombocytopeniaSpontaneous heparin-induced thrombocytopeniaVaccine-induced immune thrombotic thrombocytopeniaAnnular erythema of infancyFontan-associated liver diseaseCombined immunodeficiency with low Ig due to BCL10 deficiencyImmune dysregulation with immunodeficiency due to AIOLOS haploinsufficiencyCombined immunodeficiency-lymphopenia-cancer predisposing syndrome due to AIOLOS deficiencyCombined immunodeficiency-hypogammaglobulinemia-cancer predisposing syndrome due to AIOLOS deficiencyICHAD syndromeNEMO deleted exon 5 autoinflammatory syndromeSevere mendelian susceptibility to mycobacterial diseases due to complete IRF1 deficiencySevere mendelian susceptibility to mycobacterial diseases due to complete IFNG deficiencyNecrotizing cellulitisFibro-adipose vascular anomalyNecrotizing fasciitisNecrotizing myositisCLN14 diseaseInfantile CLN1 diseaseLate infantile CLN1 diseaseJuvenile CLN1 diseaseAdult CLN1 diseaseInfantile CLN2 diseaseLate infantile CLN2 diseaseJuvenile CLN2 diseaseJuvenile CLN3 diseaseProtracted juvenile CLN3 diseaseLate infantile CLN5 diseaseJuvenile CLN5 diseaseAdult CLN5 diseaseSickle cell S-Lepore diseaseCataract-combined malonic and methylmalonic aciduria-intellectual disability syndromeMicrocephaly-corpus callosum hypoplasia-simplified gyral pattern-intellectual disability syndrome2p25.3 microduplication syndromeSickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variantSickle cell S-O Arab diseaseSickle cell S-other specified hemoglobin variantHomozygous hemoglobin O Arab diseaseAutosomal recessive hereditary chronic pancreatitisIdiopathic chronic pancreatitisEarly-onset idiopathic chronic pancreatitisLate-onset idiopathic chronic pancreatitisTARDBP-related predominantly upper-limb distal myopathyADNP-related blepharophimosis-intellectual disability syndromeSMPX-related distal myopathyDNAJB4-related distal myopathyCalf-predominant weakness-gastrocnemius medialis atrophy-distal myopathyCombined immunodeficiency due to IKBKB gain-of-function mutationCongenital high airway obstruction syndromeNKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndromeHypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiencyHypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiencyLate infantile CLN6 diseaseJuvenile CLN6 diseaseAdult CLN6 diseaseLate infantile CLN8 diseaseCongenital CLN10 diseaseLate infantile CLN10 diseaseJuvenile CLN10 diseaseDistal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathyUnstable alpha globin chain variant diseaseUnstable gamma globin chain variant diseaseDistal arthrogryposis-progressive scoliosis-thumb deformity-impaired proprioception syndromeEarly-onset autosomal recessive TTN-related distal myopathyIntramuscular fast-flow vascular anomalyEctodermal dysplasia-natal teeth-skin abscesses-plantar hyperkeratosis-hearing impairment syndromeCongenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndromeEctodermal dysplasia with agenesis of maxillary lateral incisors and mandibular anterior teethEctodermal dysplasia with oligodontia-hand and foot malformation-hypoplastic nipplesPeripheral arteriovenous malformationPeripheral arteriovenous fistulaAutosomal dominant distal nebulin myopathyDNAJB6-related distal myopathyAutosomal recessive ACTN2-related distal myopathyAutosomal dominant ACTN2-related distal myopathySevere neurodevelopmental disorder-facial dysmorphism-cerebral-renal-cardiac anomalies syndromeFacial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathyGlobal developmental delay-speech apraxia-facial dysmorphism-limb and palpebral anomalies syndromeIntellectual disability-small hands and feet-drug-resistant epilepsy syndromeDevelopmental delay-white matter abnormalities-strabismus-recurrent respiratory tract infections syndromePhosphoribosylformylglycinamidine synthase deficiencyEosinophilic cystitisTetrahydrobiopterin-unresponsive phenylketonuriaStraatsma syndromePrimary choroidal lymphomaIncomplete congenital stationary night blindness, Schubert-Bornschein typeComplete congenital stationary night blindness, Schubert-Bornschein typeCongenital stationary night blindness, Schubert-Bornschein typeCongenital stationary night blindness, Riggs typeAcute idiopathic maculopathyOcular siderosisCircumscribed choroidal hemangiomaStellate non-hereditary idiopathic foveomacular retinoschisisIdiopathic multifocal choroiditisPresumed ocular histoplasmosis syndromeAcute posterior multifocal placoid pigment epitheliopathyGlobal developmental delay-high pain tolerance-intellectual disability syndromeGlobal developmental delay-dental enamel defects-ataxia syndromeDevelopmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndromeDevelopmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome due to NFIB mutationCARD8-related inflammatory bowel disease9p23p22.2 microdeletion syndromeInfantile-onset inflammatory bowel disease-hearing loss-recurrent infections syndromePseudo-TORCH syndrome type 3Inflammatory bowel disease-autoimmunity-sinopulmonary infections-lymphadenopathy syndromeEarly-onset inflammatory bowel disease-ulcerative skin lesions-immunodeficiency syndromeSCGN-related severe early-onset hereditary ulcerative colitisAGR2-related infantile-onset inflammatory bowel diseaseCongenital diarrhea-chronic gastrointestinal inflammation-ocular dysgenesis syndromePERCC1-related congenital intractable malabsorptive diarrheaCongenital thrombocytopenia-recurrent infections syndrome due to WIP deficiencyImmunodeficiency-congenital thrombocytopenia-hypereosinophilia-colitis-vasculitis syndromePCDH19 clustering epilepsyCongenital disseminated pyogenic granulomaAbdominal arteriovenous malformationMediastinal arteriovenous malformationPelvic arteriovenous malformationRetroperitoneal arteriovenous malformationSinus pericraniiDiffuse capillary malformation with overgrowthUnifocal sporadic venous malformationMultifocal sporadic venous malformationImmune checkpoint inhibitor-induced myositisHemoglobin E-beta-thalassemia intermediaHemoglobin E-beta-thalassemia majorHemoglobin Lepore-beta-thalassemia intermediaHemoglobin Lepore-beta-thalassemia majorHeterozygous beta-thalassemia intermedia with supernumerary alpha-globin geneLow oxygen affinity hemoglobin diseaseLow oxygen affinity alpha chain hemoglobin diseaseLow oxygen affinity beta chain hemoglobin diseaseSpinal cord arteriovenous malformation, nidus typeAcquired spinal dural arteriovenous fistulaIntracranial dural arteriovenous fistulaSpinal epidural arteriovenous malformationParaspinal arteriovenous malformationIsolated geographic pattern capillary malformationIsolated reticulated capillary malformationIsolated low resistance capillary malformationMotor incoordination-myopathy-respiratory insufficiency-progressive cerebellar atrophy syndromeRothmund-Thomson syndrome type 4Rothmund-Thomson syndrome type 3Infant-type hemispheric glioma NTRK-alteredInfant-type hemispheric glioma ALK-alteredInfant-type hemispheric glioma ROS1-alteredInfant-type hemispheric glioma MET-alteredHigh-grade astrocytoma with piloid featuresDiffuse pediatric-type high-grade glioma-H3-wildtype-IDH-wildtypeIdiopathic acute exudative polymorphous vitelliform maculopathyParaneoplastic acute exudative polymorphous vitelliform maculopathyAcute exudative polymorphous vitelliform maculopathyMelanocytoma of the optic disc and optic nerveIntraosseous venous malformationDiffuse hemispheric glioma-H3 G34-mutantGlobal developmental delay-facial dysmorphism-brachydactyly syndromeGlobal developmental delay-facial dysmorphism-hands and feet anomalies syndromeCongenital myasthenic syndrome with kinetic defectFast-channel congenital myasthenic syndromeSlow-channel congenital myasthenic syndromeCongenital myasthenic syndrome with kinetic defect due to reduced ion channel conductanceCongenital myasthenic syndrome with primary acetylcholine receptor deficiencyCongenital myasthenic syndrome due to defects in endplate development and maintenanceCongenital myasthenic syndrome due to a sodium channel 1.4 defectCongenital myasthenic syndrome due to defective axonal transportCongenital myasthenic syndrome due to defective synthesis or recycling of acetylcholineCongenital myasthenic syndrome due to defective synaptic vesicles exocytosisAutosomal recessive congenital myasthenic syndrome due to defective synaptic vesicles exocytosisAutosomal dominant congenital myasthenic syndrome due to defective synaptic vesicles exocytosisCongenital myasthenic syndrome associated with ubiquitously expressed proteinsCongenital myasthenic syndrome with mitochondrial defectDural sinus malformation without arteriovenous shuntKasabach-Merritt-like phenomenonLocalized intravascular coagulationDisseminated intravascular coagulation associated with a vascular anomalyLymphatic-venous malformationCapillary-lymphatic malformationCapillary-venous malformationCapillary-lymphatic-venous malformationAquagenic urticariaCongenital midnasal stenosisPartial trisomy 12q syndromeDevelopmental delay-spastic diplegia-choreoathetosis-intellectual disability syndrome12q24.31 microdeletion syndromeGlobal developmental delay-recurrent infections-facial dysmorphism syndrome2p14p15 microdeletion syndromeGlobal developmental delay-facial dysmorphism-atrial septal defect syndromeDevelopmental delay-facial dysmorphism-Blaschko lines hypopigmentation-obesity-intellectual disability syndromeDevelopmental delay-microcephaly-short stature-ocular disorders-intellectual disability syndromeGlobal developmental delay-acquired macrocephaly-ataxia-febrile seizures syndromeCombined immunodeficiency due to COPG1 deficiencyMicrocephalic primordial dwarfism syndrome with combined immunodeficiency due to PRIM1 deficiencyCombined immunodeficiency due to polymerase delta deficiencyY-linked non-syndromic genetic deafnessPhotic retinopathyCongenital myasthenic syndrome due to acetylcholine receptor clustering defectCongenital myasthenic syndrome due to defective nuclear membrane proteinCongenital myasthenic syndrome due to defective structural molecule at the neuromuscular junctionAngiokeratoma circumscriptumAngiokeratoma of MibelliCentral conducting lymphatic anomalyNeonatal/infantile-onset brain arteriovenous fistulaLate-onset brain arteriovenous fistulaNeonatal/infantile-onset spinal arteriovenous fistulaLate-onset spinal arteriovenous fistulaDevelopmental delay-blepharophimosis-telecanthus-facial dysmorphism-intellectual disability syndromeDevelopmental delay-cervical spine anomalies-facial dysmorphism-intellectual disability syndromeOtofaciocervical syndrome without thymic hypoplasiaOtofaciocervical syndrome with thymic hypoplasiaT-B+NK+ severe combined immunodeficiency due to LCP2 deficiencyClinical variant galactosemiaBiochemical variant galactosemiaMultifocal ectopic Purkinje-related premature contractionHyper-IgM syndrome due to INO80 deficiencyFetal acetylcholine receptor antibody-related disorderCombined immunodeficiency due to NFATC1 deficiencyIris melanomaChoroidal and ciliary body melanomaSITRAME SyndromeExtrapulmonary non-tuberculous mycobacterial infectionIsolated glomeruloid hemangiomaCutaneous epithelioid angiomatous nodulePregnancy-associated spontaneous coronary artery dissectionFlow limitation in the iliac arteryDiffuse midline glioma, H3 K27-alteredGlobal developmental delay-nystagmus-short stature-corpus callosum hypoplasia-white matter abnormalities syndromeGlobal developmental delay-early-onset refractory epilepsy-spastic quadriplegia-microcephaly-cerebral atrophy syndromeBone marrow failure-diabetes mellitus syndromeAppendiceal mucinous neoplasmLow-grade appendiceal mucinous neoplasmHigh-grade appendiceal mucinous neoplasmAstrocytoma grade 4Red cell aplasia-microcephaly-seizure-developmental delay syndromeCongenital amegakaryocytic thrombocytopenia-MPLCongenital amegakaryocytic thrombocytopenia-THPOCongenital amegakaryocytic thrombocytopenia without known causal genetic defectCombined immunodeficiency with hypo/agammaglobulinemia and opportunistic infectionsCombined immunodeficiency with early gray hairingGenetic predisposition to Whipple disease due to IRF4 haploinsufficiencyHouge-Janssens syndromeHouge-Janssens syndrome type 3Houge-Janssens syndrome type 4Global developmental delay-bilateral cataract-cerebellar atrophy-movement disorder syndromeGlobal developmental delay-urogenital anomalies-cerebellar atrophy-cleft palate syndromeDevelopmental delay-vision anomalies-hand stereotypies-intellectual disability syndromeChitayat syndromePolydactyly-macrocephaly syndromeIntellectual disability-myopathy-white matter abnormality syndromeCalcium release deficiency syndromeVenezuelan equine encephalitisTSHZ3-related congenital anomalies of kidney-urinary tract-intellectual disability syndromePTEN hamartoma of soft tissueHepatorenocardiac degenerative fibrosisRadiation-induced Moyamoya syndromeHematohidrosisIsolated congenital long QT syndrome without known causative genetic defectKCNQ1-related isolated congenital long QT syndromeKCNH2-related isolated congenital long QT syndromeCACNA1C-related isolated congenital Long QT syndromeTRDN-related isolated congenital long QT syndromeKCNE2-related isolated congenital long QT syndromeKCNE1-related isolated congenital long QT syndromeCalmodulin-related isolated congenital long QT syndromeSCN5A-related isolated congenital long QT syndromeProgressive muscle weakness-respiratory insufficiency-learning difficulty syndromeAutosomal recessive KLF1-related severe anemia16p13.11p11.2 triplication/16p11.2 duplication syndromeLoin pain-hematuria syndromeMonoamine oxidase A and monoamine oxidase B deficiencyIsolated global cerebellar hypoplasiaBrainstem disconnection syndromeYARS1-related multisystemic diseaseMedullary tegmental cap dysplasiaAPOB-related familial hypobetalipoproteinemiaFamilial combined hypolipidemiaHypocholesterolemia due to PCSK9 deficiencyPLA2G6-related neurodegeneration, juvenile-onsetCongenital macrothrombocytopenia with focal myelofibrosisPontocerebellar hypoplasia type 16Pontocerebellar hypoplasia type 17Early repolarization syndromeIdiopathic orbital inflammation syndromeBleeding diathesis due to thromboxane A2 receptor variantsSensorineural hearing loss-brainstem malformation-motor delay-balance impairment syndromeFetus in fetuNIT1-related cerebral small vessel diseaseImmune effector cell-associated neurotoxicity syndromeEsophageal atresia type AEsophageal atresia type BEsophageal atresia type CEsophageal atresia type DEsophageal atresia type EProgestogen HypersensitivityCraniotubular dysplasia, Ikegawa typeEpilepsy-mild cortical malformation-oligodendroglial hyperplasiaEarly-onset leucoencephalopaty-spasticity-stroke-neurodevelopmental disorderSandestig-Stefanova syndromeCongenital generalized alopecia-hypoplastic kidneys-facial dysmorphism-sensorineural deafness syndromeInfant-type hemispheric glioma, fusion-negativeAnti-NF155 nodopathyAnti-pan-neurofascin nodopathyAnti-CNTN1 nodopathyAnti-CASPR1 nodopathyLow-grade fibromyxoid sarcomaX-linked intellectual disability, Basilicata-Akhtar typePrimary autoimmune ear diseaseSclerosing epithelioid fibrosarcomaMegalencephaly-postaxial polydactyly-ventriculomegaly-neuroblastoma syndromeParaduodenal pancreatitisSqualene synthase deficiencyITPR3-related combined immunodeficiency-ectodermal dysplasia syndromeIsolated anophthalmiaGlobal developmental delay-microcephaly-ataxia-perpipheral demyelinating neuropathy-intellectual disability syndromeCharcot-Marie-Tooth disease type 1JGlobal developmental delay-severe feeding difficulties-short stature-multiple congenital anomalies syndromeEthanol-producing endogenous fermentation syndromePapulonecrotic tuberculidLichen scrofulosorumInvasive meningococcal diseaseErythema induratum of BazinComplex neurodevelopmental disorder with unspecific dysmorphic features/congenital anomalies without ID/ASD of not yet identified genetic/genomic causeComplex neurodevelopmental disorder with unspecific dysmorphic features/congenital anomalies without ID/ASD of genetic/genomic originComplex neurodevelopmental disorder with unspecific dysmorphic features/congenital anomalies without intellectual disability or autism spectrum disorderRYR2-related catecholaminergic polymorphic ventricular tachycardiaCASQ2-related catecholaminergic polymorphic ventricular tachycardiaTECRL-related catecholaminergic polymorphic ventricular tachycardiaCalmodulin-related catecholaminergic polymorphic ventricular tachycardiaIsolated complex neurodevelopmental disorder without intellectual disability or autism spectrum disorderIsolated complex neurodevelopmental disorder without ID/ASD of genetic/genomic originIsolated complex neurodevelopmental disorder without ID/ASD of not yet identified genetic/genomic causeTRDN-related catecholaminergic polymorphic ventricular tachycardiaPrimary extra-pulmonary tuberculosisIsolated partial colobomatous microphthalmiaCatecholaminergic polymorphic ventricular tachycardia without known causative genetic defectInfantile-onset TK2-related mitochondrial DNA maintenance defect, myopathic formChildhood-onset TK2-related mitochondrial DNA maintenance defect, myopathic formLate-onset TK2-related mitochondrial DNA maintenance defect, myopathic formWisconsin syndromePrimary amoebic meningoencephalitisGranulomatous amoebic encephalitisOssifying fibromyxoid tumor

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