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Rare Disease Database · 47,XXY (Klinefelter Syndrome) · Aarskog Syndrome · Abetalipoproteinemia · Ablepharon-Macrostomia Syndrome · Acanthocheilonemiasis · Acanthosis ... ScrollToTopAboutNewsEventsContactPODCASTStoredonateMenuforPatientsandFamiliesInformation&ResourcesRareDiseaseInformationRareDiseaseVideoLibraryPatientandCaregiverResourceCenterInformationonClinicalTrialsandResearchStudiesRareDiseaseCentersofExcellenceCOVID-19ResourcesHelptoAccessMedicationsPatientAssistanceProgramsOtherFinancialAssistanceConnectwithOthersFindaPatientOrganizationRareDiseaseDay®PatientStoriesTakeActionAttendEventsAdvocateSupportCloseforPatientOrganizationsJoinMembershipNetworkValueofMembershipMembershipCriteriaApplyforMembershipNonprofitResourcesMembershipBenefitsMembershipResourcesRareLaunch®WebinarSeriesDiversity,Equity&InclusionOtherWaystoPartnerGrowyourorganizationPatientRegistriesAdvocacyRareDiseaseDay®RDCA-DAP®MembershipProfilesAboutourMembersMemberListRareCancerCoalition™CloseforCliniciansandResearchersResourcesResourcesforMedicalProfessionalsRareDiseaseInformationResourcesforyourPatientsContinuingMedicalEducationResearchOpportunitiesResearchGrantProgramRequestsforProposalsResearchGrantRecipientsConnectLendYourExpertiseRareDiseaseDay®CloseNORDRareDiseaseAdvocacyNORD’sPolicyinActionIssueOverviewsNORDontheIssuesPolicySteeringCommitteeNORDStateReportCardNationalPartnershipsTakeActionLocallyJointheRareActionNetwork®ProjectRDACContactYourRepresentativesTakeActionRareInsights®RareInsights®5MythsAboutOrphanDrugsandtheOrphanDrugActCloseGetInvolvedDonateNowGiveWaystoGiveDonatetoResearchNORD®StoreEducateEducationalInitiativesRaiseAwarenessIdentifyRareDiseaseExpertsJoinParticipateinEventsBecomeaMemberRareCancerCoalition™EmploymentOpportunitiesCorporateCouncilAbouttheCorporateCouncilCurrentMembersCouncilCodeofConductJointheCouncilCloseHome/ForPatientsandFamilies/RareDiseaseInformationRareDiseaseInformationRareDiseaseDatabaseEnhancementstoNORD’sRareDiseaseDatabaseandwebsiteweremadepossiblethroughagrantfromtheAnthemFoundation,thecharitablearmofAnthem,Inc.NORD’sRareDiseaseDatabaseprovidesbriefintroductionsforpatientsandcaregiverstospecificrarediseases.MedicalexpertsandrepresentativesofpatientorganizationswhowouldliketoassistNORDindevelopingreportsontopicsnotcurrentlycoveredinthisdatabasemaywriteto[email protected]. RareDiseaseDatabase0-9•A•B•C•D•E•F•G•H•I•J•K•L•M•N•O•P•Q•R•S•T•U•V•W•X•Y•Z47,XXY(KlinefelterSyndrome)Alsoknownas:KS,XXYmaleAarskogSyndromeAlsoknownas:Aarskogdisease,Aarskog-Scottsyndrome,AAS,faciodigitogenitalsyndrome,faciogenitaldysplasia,FGDY,ScottAarskogsyndromeAbetalipoproteinemiaAlsoknownas:ABL,Bassen-Kornzweigsyndrome,lowdensitylipoproteindeficiency,microsomaltriglyceridetransferproteindeficiency,MTPdeficiencyAblepharon-MacrostomiaSyndromeAlsoknownas:AMSAcanthocheilonemiasisAlsoknownas:Acanthocheilonemiasisperstans,Dipetalonemaperstans,Dipetalonemiasis,MansonellaperstansAcanthosisNigricansAlsoknownas:ANSubdivisions:AcanthosisNigricansWithInsulinResistanceTypeA,AcanthosisNigricansWithInsulinResistanceTypeB,BenignAcanthosisNigricans,Drug-inducedAcanthosisNigricans,HereditaryBenignAcanthosisNigricans,MalignantAcanthosisNigricans,PseudoacanthosisNigricansAceruloplasminemiaAlsoknownas:familialapoceruloplasmindeficiency,hereditaryceruloplasmindeficiencyAchalasiaAlsoknownas:cardiospasm,dyssynergiaesophagus,esophagealaperistalsis,megaesophagusAchardThiersSyndromeAlsoknownas:DiabeticBeardedWomanSyndromeAchondrogenesisSubdivisions:achondrogenesistypeIA(Houston-Harristype),achondrogenesistypeIB(Fraccarotype),achondrogenesistypeII(Langer-Saldinotype)AchondroplasiaAlsoknownas:ACH,achondroplasticdwarfism,dwarf,achondroplasticAcidSphingomyelinaseDeficiencyAlsoknownas:ASMD,ASMDeficiency,AcidSphingomyelinase-deficientNiemann-PickDisease,ASM-deficientNiemann-PickDiseaseSubdivisions:Niemann-PickdiseasetypeA(NPD-A),Niemann-PickdiseasetypeB(NPD-B)Acidemia,MethylmalonicAlsoknownas:MethylmalonicAciduriaAcousticNeuromaAlsoknownas:acousticneurilemoma,acousticneurinoma,fibroblastoma,perineural,neurinomaoftheacousticnerve,neurofibromaoftheacousticnerve,schwannomaoftheacousticnerve,vestibularschwannomaAcquiredAplasticAnemiaAlsoknownas:idiopathicaplasticanemia,immuneaplasticanemiaAcquiredHemophiliaAlsoknownas:acquiredhemophiliaA(AHA),acquiredhemophiliaB(AHB)AcquiredLipodystrophySubdivisions:acquiredgeneralizedlipodystrophy(AGL;Lawrencesyndrome),acquiredpartiallipodystrophy(APL;Barraquer-Simonssyndrome),highactiveantiretroviraltherapy(HAART)inducedlipodystrophy(LD-HIV),localizedlipodystrophyAcquiredNeuromyotoniaAlsoknownas:Isaacs-Mertensyndrome,Isaacs'syndrome,continuousmusclefiberactivitysyndromeAcrocallosalSyndrome,SchinzelTypeAlsoknownas:AbsenceofCorpusCallosum,SchinzelType,ACLS,ACS,HalluxDuplication,PostaxialPolydactyly,andAbsenceofCorpusCallosum,SchinzelAcrocallosalSyndromeAcrodermatitisEnteropathicaAlsoknownas:AE,Brandtsyndrome,Danbolt-Crosssyndrome,zincdeficiency,congenital123…65Next>SearchRareDiseasesEnteradiseasenameorsynonymtosearchNORD'sdatabaseofreports.Tosearchforpatientorganizationsandotherpagesrelatedtothistopic,usetheAdvancedSearchfunctionatthetoprightcornerofthepage.RelatedContentInterestedinForm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