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Title / ConceptCUI
ABDOMENC0000726
Distended abdomenC0000731
Abdominal distensionC0000731
Abdominal distentionC0000731
Abdominal painC0000737
Abdomen painC0000737
ABETALIPOPROTEINEMIAC0000744
BASSEN-KORNZWEIG SYNDROMEC0000744
ACANTHOCYTOSISC0000744
APOLIPOPROTEIN B DEFICIENCYC0000744
ABLC0000744
MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFICIENCYC0000744
MTP DEFICIENCYC0000744
AcanthocytesC0000886
AcantholysisC0000887
ACANTHOSIS NIGRICANSC0000889
Acanthosis nigricansC0000889
AchlorhydriaC0001075
ACHONDROPLASIAC0001080
ACHC0001080
Lactic acidosisC0001125
Renal tubular acidosisC0001126
AcromegalyC0001206
ACROMEGALYC0001206
Pancreatitis, acuteC0001339
Stokes-Adams attacksC0001396
Adrenal insufficiency (Addison disease)C0001403
AdenocarcinomaC0001418
ADIE SYNDROMEC0001519
ADIE PUPILC0001519
HOLMES-ADIE SYNDROMEC0001519
POORLY REACTING PUPILSC0001519
ADIPOSIS DOLOROSAC0001529
DERCUM DISEASEC0001529
HyperadrenocorticismC0001622
Adrenal insufficiencyC0001623
Congenital adrenal hyperplasiaC0001627
ADRENODOXINC0001657
ADXC0001657
COMPLEMENT COMPONENT 3 INACTIVATOR DEFICIENCYC0001733
C3 INACTIVATOR DEFICIENCYC0001733
COMPLEMENT FACTOR I DEFICIENCYC0001733
AgammaglobulinemiaC0001768
AgeusiaC0001800
Aggressive behaviorC0001807
AggressivenessC0001807
AggressionC0001807
AGINGC0001811
MYELOFIBROSIS, IDIOPATHICC0001815
AgnosiaC0001816
AgoraphobiaC0001818
GranulocytopeniaC0001824
AINHUMC0001860
AlbinismC0001916
AlbuminuriaC0001925
ALCOHOL DEPENDENCEC0001973
ALCOHOLISMC0001973
Respiratory alkalosisC0002064
ALKAPTONURIAC0002066
HOMOGENTISIC ACID OXIDASE DEFICIENCYC0002066
AKUC0002066
ALLERGIC RHINITISC0002103
Allergic rhinitisC0002103
ALRHC0002103
AlopeciaC0002170
Hair lossC0002170
Alopecia areataC0002171
Circumscribed alopeciaC0002171
Alpha-thalassemiaC0002312
ALPHA-THALASSEMIASC0002312
ALZHEIMER DISEASEC0002395
ALZHEIMER DISEASEC0002395
Alzheimer diseaseC0002395
ADC0002395
MTND1*ADPD3397GC0002395
AmblyopiaC0002418
Amelogenesis imperfectaC0002452
AmenorrheaC0002453
Amniotic fluidC0002638
OPPENHEIM DISEASEC0002735
AMYOTONIA CONGENITAC0002735
Amyotrophic lateral sclerosisC0002736
AnemiaC0002871
Aplastic anemiaC0002874
APLASTIC ANEMIAC0002874
APLASTIC ANEMIAC0002874
Hemolytic anemiaC0002878
Autoimmune hemolytic anemiaC0002880
ANEMIA, AUTOIMMUNE HEMOLYTICC0002880
Hemolytic anemia, autoimmuneC0002880
Hypochromic anemiaC0002884
Macrocytic anemiaC0002886
Megaloblastic anemiaC0002888
Myelophthisic anemiaC0002890
Pernicious anemiaC0002892
PERNICIOUS ANEMIAC0002892
SICKLE CELL ANEMIAC0002895
SICKLE CELL ANEMIAC0002895
Sideroblastic anemiaC0002896
AnencephalyC0002902
ANENCEPHALYC0002902
Angina pectorisC0002962
AnginaC0002962
Angioid streaksC0002982
ANGIOID STREAKSC0002982
AngiokeratomaC0002985
FABRY DISEASEC0002986
FABRY DISEASEC0002986
Angiokeratoma corporis diffusumC0002986
ANGIOKERATOMA CORPORIS DIFFUSUMC0002986
ANDERSON-FABRY DISEASEC0002986
ALPHA-GALACTOSIDASE A DEFICIENCYC0002986
CERAMIDE TRIHEXOSIDASE DEFICIENCYC0002986
GLA DEFICIENCYC0002986
HEREDITARY DYSTOPIC LIPIDOSISC0002986
AngioedemaC0002994
ANGIOTENSIN IIC0003009
ANGIOTENSINOGENC0003017
AnhidrosisC0003028
ANHIDROSISC0003028
AnhydrosisC0003028
AniridiaC0003076
ANIRIDIAC0003076
ANIRIDIAC0003076
Absent irisC0003076
AN1C0003076
ARG240TERC0003076
AnisocoriaC0003079
ANISOCORIAC0003079
DysnomiaC0003113
AnophthalmiaC0003119
AnorexiaC0003123
AnosmiaC0003126
ANOSMIAC0003126
Circulating immune complexesC0003313
ALPHA-2-PLASMIN INHIBITORC0003410
ALPHA-2-ANTIPLASMINC0003410
AAPC0003410
PLIC0003410
ANTITHROMBIN IIIC0003438
AT3C0003438
AnuriaC0003460
Imperforate anusC0003466
ANUS, IMPERFORATEC0003466
ANUS, IMPERFORATEC0003466
Anal atresiaC0003466
AnxietyC0003467
ANXIETYC0003467
Anxiety disordersC0003469
AORTIC ARCH SYNDROMEC0003490
Aortic coarctationC0003492
COARCTATION OF AORTAC0003492
Coarctation of aortaC0003492
Coarctation of the aortaC0003492
Supravalvular aortic stenosisC0003499
SUPRAVALVULAR AORTIC STENOSISC0003499
SUPRAVALVAR AORTIC STENOSISC0003499
SVASC0003499
SUPRAVALVAR AORTIC STENOSIS, EISENBERG TYPEC0003499
Aortic insufficiencyC0003504
Aortic regurgitationC0003504
Aortic valve stenosisC0003507
Aortic stenosisC0003507
Valvular aortic stenosisC0003507
AortitisC0003509
AphasiaC0003537
Motor aphasiaC0003550
AphoniaC0003564
Loss of voiceC0003564
ApneaC0003578
ApraxiaC0003635
DyspraxiaC0003635
ArachnodactylyC0003706
DolichostenomeliaC0003706
ARCUS SENILISC0003742
CORNEAL ARCUSC0003742
Corneal arcusC0003742
ARCUS CORNEAEC0003742
Arnold-Chiari malformationC0003803
Chiari malformationC0003803
CARDIAC ARRHYTHMIAC0003811
Cardiac arrhythmiaC0003811
Cardiac arrhythmiasC0003811
ArrhythmiaC0003811
ArrhythmiasC0003811
EXTRASYSTOLESC0003811
DysrhythmiasC0003811
Cardiac rhythm disturbancesC0003811
Sinus arrhythmiaC0003813
ArteriosclerosisC0003850
Arteriovenous fistulaC0003855
Arteriovenous malformationC0003857
ArthralgiaC0003862
ArthralgiasC0003862
Joint painC0003862
Joint painsC0003862
Painful jointsC0003862
ArthritisC0003864
Gouty arthritisC0003868
RHEUMATOID ARTHRITISC0003873
RAC0003873
RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TOC0003873
ArthrogryposisC0003886
ARTHROGRYPOSIS MULTIPLEX CONGENITAC0003886
Arthrogryposis multiplex congenitaC0003886
AMCC0003886
Neuropathic arthropathyC0003892
ARYL SULFOTRANSFERASEC0003942
AscitesC0003962
ALLERGIC BRONCHOPULMONARY ASPERGILLOSISC0004031
Generalized weaknessC0004093
AsthmaC0004096
Bronchial asthmaC0004096
AstigmatismC0004106
ASTIGMATISMC0004106
AstrocytomaC0004114
ASTROCYTOMAC0004114
AtaxiaC0004134
ATAXIA-TELANGIECTASIAC0004135
LOUIS-BAR SYNDROMEC0004135
ATC0004135
AT1C0004135
AtherosclerosisC0004153
AthetosisC0004158
Atrial fibrillationC0004238
Atrioventricular blockC0004245
ATRIOVENTRICULAR DISSOCIATIONC0004331
A-V DISSOCIATIONC0004331
AUTISTIC DISORDERC0004352
AutismC0004352
AUTISMC0004352
AutoantibodiesC0004358
AUTOIMMUNE DISEASEC0004364
Avoidant personalityC0004444
AzoospermiaC0004509
Back painC0004604
BALKAN ENDEMIC NEPHROPATHYC0004698
NEPHROPATHIA EPIDEMICAC0004698
BENC0004698
DEFNC0004698
DANUBIAN ENDEMIC FAMILIAL NEPHROPATHYC0004698
BARRETT ESOPHAGUSC0004763
BASAL CELL NEVUS SYNDROMEC0004779
GORLIN-GOLTZ SYNDROMEC0004779
GORLIN SYNDROMEC0004779
NEVOID BASAL CELL CARCINOMA SYNDROMEC0004779
BCNSC0004779
NBCCSC0004779
WIEDEMANN-BECKWITH SYNDROMEC0004903
BECKWITH-WIEDEMANN SYNDROMEC0004903
EXOMPHALOS-MACROGLOSSIA-GIGANTISM SYNDROMEC0004903
EMG SYNDROMEC0004903
WBSC0004903
BWSC0004903
Psychiatric disordersC0004936
BEHCET SYNDROMEC0004943
BEHCET DISEASEC0004943
BDC0004943
BERNARD-SOULIER SYNDROMEC0005129
GIANT PLATELET SYNDROMEC0005129
BSSC0005129
VON WILLEBRAND FACTOR RECEPTOR DEFICIENCYC0005129
GLYCOPROTEIN Ib, PLATELET, DEFICIENCY OFC0005129
PLATELET GLYCOPROTEIN Ib DEFICIENCYC0005129
BETA-LACTOGLOBULINC0005248
TUBULIN, BETAC0005290
Biliary atresiaC0005411
Biliary tractC0005423
Bipolar disorderC0005586
BladderC0005682
BLADDER CANCERC0005684
Bladder exstrophyC0005689
EXSTROPHY OF BLADDERC0005689
Neurogenic bladderC0005697
BlepharitisC0005741
BlepharochalasisC0005742
BlepharophimosisC0005744
BlepharoptosisC0005745
PtosisC0005745
BlepharospasmC0005747
Eyelid twitchingC0005747
BLEPHAROSPASM, BENIGN ESSENTIALC0005747
Congenital blindnessC0005754
BullaeC0005758
BlisteringC0005758
CoagulopathyC0005779
VesselsC0005847
BLOOM SYNDROMEC0005859
BLMC0005859
BSC0005859
BLSC0005859
Bone cystsC0005937
Brain abscessC0006105
Cerebral edemaC0006114
Brain tumorsC0006118
BRANCHIAL CYSTSC0006131
Branchial cleft cystsC0006131
BreastsC0006141
Breast cancerC0006142
BREAST CANCERC0006142
Breech presentationC0006157
BronchospasmC0006266
BronchiectasisC0006267
BRONCHIECTASISC0006267
BronchiectasesC0006267
BronchiolitisC0006271
BronchitisC0006277
BruxismC0006325
Bundle branch blockC0006384
BURKITT LYMPHOMAC0006413
BLC0006413
CachexiaC0006625
CandidiasisC0006840
Chronic mucocutaneous candidiasisC0006845
Mucocutaneous candidiasisC0006848
Oral candidiasisC0006849
Oral thrushC0006849
Carcinoid tumorsC0007095
Basal cell carcinomaC0007117
ALVEOLAR CELL CARCINOMAC0007120
NONSMALL CELL LUNG CANCERC0007131
Renal cell carcinomaC0007134
HypernephromaC0007134
HYPERNEPHROMAC0007134
Renal carcinomaC0007134
ADENOCARCINOMA OF KIDNEYC0007134
ADENOCARCINOMA, RENALC0007134
RCC1C0007134
RENAL CELL CARCINOMA, PAPILLARYC0007134
RENAL CELL CARCINOMA 1C0007134
Squamous cell carcinomaC0007137
Decreased cardiac outputC0007166
Dilated cardiomyopathyC0007193
Cardiomyopathy, dilatedC0007193
CARDIOMYOPATHY, CONGESTIVEC0007193
CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVEC0007193
Cardiomyopathy, hypertrophicC0007194
Hypertrophic cardiomyopathyC0007194
Restrictive cardiomyopathyC0007196
CARDIOMYOPATHY, RESTRICTIVEC0007196
CardiovascularC0007226
CARDIOVASCULARC0007226
PARAGANGLIOMA, CAROTID BODYC0007279
CAROTID BODY TUMORSC0007279
Carotid body tumorsC0007279
ChemodectomasC0007279
CBT1C0007279
CARPAL TUNNEL SYNDROMEC0007286
Carpal tunnel syndromeC0007286
CTSC0007286
AMYOTROPHY, THENAR, OF CARPAL ORIGINC0007286
CTS1C0007286
Cytoplasmic vacuolizationC0010840
DacryocystitisC0010930
DANDY-WALKER SYNDROMEC0010964
Dandy-Walker malformationC0010964
DANDY-WALKER MALFORMATIONC0010964
DWSC0010964
DWMC0010964
DeafnessC0011053
Sudden deathC0011071
DysphagiaC0011168
Swallowing difficultiesC0011168
DehydrationC0011175
HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE IIIC0011195
DSSC0011195
DEJERINE-SOTTAS SYNDROMEC0011195
HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTASC0011195
DEJERINE-SOTTAS NEUROPATHYC0011195
DEJERINE-SOTTAS NEUROPATHYC0011195
HMSN3C0011195
DSNC0011195
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4FC0011195
CMT4FC0011195
CHARCOT-MARIE-TOOTH DISEASE, TYPE 3C0011195
CMT3C0011195
DeliveryC0011209
DelusionsC0011253
CataplexyC0007384
CATAPLEXYC0007384
CELIAC DISEASEC0007570
Celiac diseaseC0007570
CDC0007570
CELIAC SPRUEC0007570
GLUTEN-SENSITIVE ENTEROPATHYC0007570
GSEC0007570
ACID CERAMIDASEC0007743
ACC0007743
Cerebellar ataxiaC0007758
Cerebellar abnormalitiesC0007760
DYSSYNERGIA CEREBELLARIS MYOCLONICA OF HUNTC0007761
CPD5C0007761
CEREBELLOPARENCHYMAL DISORDER VC0007761
SPINODENTATE ATROPHYC0007761
Central nucleiC0007763
Intracranial aneurysmC0007766
Cerebral hemorrhageC0007784
Intracerebral hemorrhageC0007784
Cerebral infarctionC0007785
Cerebral infarctsC0007785
Transient ischemic attackC0007787
Transient ischemic attacksC0007787
SCHILDER DISEASEC0007795
SUDANOPHILIC CEREBRAL SCLEROSISC0007795
CERVICAL CANCERC0007847
CHEDIAK-HIGASHI SYNDROMEC0007965
CHSC0007965
CHERUBISMC0008029
CRBMC0008029
ChilblainsC0008058
GLUTAMATE MONOSODIUM SENSITIVITYC0008127
CHINESE RESTAURANT SYNDROMEC0008127
CHLORAMPHENICOL RESISTANCEC0008170
Choanal atresiaC0008297
CholangitisC0008311
BILIARY CIRRHOSIS, PRIMARYC0008312
PBCC0008312
CholecystitisC0008325
CHOLECYSTITISC0008325
GBD1C0008325
GALLBLADDER DISEASE 1C0008325
CholelithiasisC0008350
CholestasisC0008370
Intrahepatic cholestasisC0008372
CHOLESTEROL ESTER HYDROLASEC0008385
Stippled epiphysesC0008445
PATELLA, CHONDROMALACIA OFC0008475
CHONDROSARCOMAC0008479
CHORDOMAC0008487
CHDMC0008487
ChoreaC0008489
Choreiform movementsC0008489
HeterotopiaC0008519
HeterotopiasC0008519
CHOROIDEREMIAC0008525
TCDC0008525
CHMC0008525
TAPETOCHOROIDAL DYSTROPHY, PROGRESSIVEC0008525
Chronic bronchitisC0008677
ASCITES, CHYLOUSC0008732
Chylous ascitesC0008732
ChylothoraxC0008733
ScarringC0008767
IMMOTILE CILIA SYNDROMEC0008780
PRIMARY CILIARY DYSKINESIAC0008780
PRIMARY CILIARY DYSKINESIAC0008780
CILIARY DYSKINESIA, PRIMARYC0008780
POLYNESIAN BRONCHIECTASISC0008780
PCDC0008780
ICSC0008780
Cleft lipC0008924
CLEFT PALATEC0008925
Cleft palateC0008925
CPC0008925
CPIC0008925
CLEFT PALATE, ISOLATEDC0008925
CLEIDOCRANIAL DYSPLASIAC0008928
CLEIDOCRANIAL DYSOSTOSISC0008928
CCDC0008928
CLCDC0008928
ClonusC0009024
Clubbing of fingersC0009080
Digital clubbingC0009080
ClubfootC0009081
CLUBFOOTC0009081
ClubfeetC0009081
Talipes equinovarusC0009081
TALIPES EQUINOVARUSC0009081
EquinovarusC0009081
Club footC0009081
Club feetC0009081
ColobomaC0009363
COLOBOMA OF IRIS, CHOROID, AND RETINAC0009363
COLOBOMA, OCULARC0009363
COLOBOMA, OCULARC0009363
COLOBOMA, OCULARC0009363
Ocular colobomasC0009363
COIC0009363
Coloboma, uveoretinalC0009363
COLOBOMA, UVEORETINALC0009363
Colonic polypsC0009376
Color vision defectsC0009398
COLORECTAL CANCERC0009402
CRCC0009402
ComaC0009421
COMMON VARIABLE IMMUNODEFICIENCYC0009447
CVIDC0009447
HYPOGAMMAGLOBULINEMIA, ACQUIREDC0009447
COMMON VARIABLE HYPOGAMMAGLOBULINEMIAC0009447
IMMUNOGLOBULIN DEFICIENCY, LATE-ONSETC0009447
Communicating hydrocephalusC0009451
COMPLEMENT COMPONENT C1rC0009503
C3aC0009510
C3bC0009511
ConfusionC0009676
MACROGLOSSIAC0009677
MacroglossiaC0009677
Congenital cataractC0009691
Cataract, congenitalC0009691
Congenital cataractsC0009691
HEPATIC FIBROSIS, CONGENITALC0009714
ConjunctivitisC0009763
ConstipationC0009806
ContracturesC0009917
Joint contracturesC0009918
Joint contractureC0009918
Febrile seizuresC0009952
Corneal abrasionsC0010032
Corneal dystrophyC0010035
Corneal opacityC0010038
Corneal opacitiesC0010038
Corneal cloudingC0010038
Corneal ulcerationC0010043
Corneal ulcerationsC0010043
Coronary atherosclerosisC0010054
CoughC0010200
CROUZON CRANIOFACIAL DYSOSTOSISC0010273
CROUZON SYNDROMEC0010273
CROUZON SYNDROMEC0010273
CROUZON SYNDROMEC0010273
ACROCEPHALOSYNDACTYLY, TYPE IIC0010273
CFD1C0010273
CRANIOFACIAL DYSOSTOSIS, TYPE IC0010273
CraniopharyngiomaC0010276
CraniosynostosisC0010278
CRANIOSYNOSTOSISC0010278
CRANIOSYNOSTOSISC0010278
CraniostenosisC0010278
CRANIOSTENOSISC0010278
CRANIOSTENOSISC0010278
Premature closure of cranial suturesC0010278
CRSC0010278
CSOC0010278
CRS1C0010278
CRANIOSYNOSTOSIS, TYPE 1C0010278
Hypothyroidism, congenitalC0010308
CRI-DU-CHAT SYNDROMEC0010314
CAT CRY SYNDROMEC0010314
CRIGLER-NAJJAR SYNDROMEC0010324
CRIGLER-NAJJAR SYNDROME, TYPE IC0010324
CryptorchidismC0010417
CRYPTORCHIDISMC0010417
Undescended testisC0010417
UNDESCENDED TESTISC0010417
CRYPTORCHIDISM, UNILATERAL OR BILATERALC0010417
Cryptorchidism (unilateral or bilateral)C0010417
Cushing syndromeC0010481
Cutis laxaC0010495
Loose skinC0010495
Skin laxityC0010495
CyanosisC0010520
CYSTIC FIBROSISC0010674
MUCOVISCIDOSISC0010674
CFC0010674
CYSTINURIAC0010691
CYSTINURIA, TYPE II, FORMERLYC0010691
CYSTINURIA, TYPE I, FORMERLYC0010691
CYSTINURIA, TYPE NON-I, FORMERLYC0010691
CSNU1, FORMERLYC0010691
CSNU3, FORMERLYC0010691
CYSTINURIA, TYPE III, FORMERLYC0010691
CSNUC0010691
Phyllodes tumorC0010701
CYTOCHROME b5C0010746
CYB5C0010746
Presenile dementiaC0011265
DemyelinationC0011304
Dens in denteC0011320
Dens invaginatusC0011320
Dental cariesC0011334
CariesC0011334
Carious teethC0011334
Dental enamel hypoplasiaC0011351
Enamel hypoplasiaC0011351
Dentinogenesis imperfectaC0011436
DermatitisC0011603
Generalized erythrodermaC0011606
ATOPIC DERMATITISC0011615
Atopic dermatitisC0011615
DERMATITIS, ATOPICC0011615
Atopic eczemaC0011615
ECZEMA, ATOPICC0011615
ATODC0011615
DermatomyositisC0011633
SclerodermaC0011644
DERMATOSIS PAPULOSA NIGRAC0011645
DextrocardiaC0011813
Diabetes insipidusC0011848
Diabetes mellitusC0011849
Insulin dependent diabetes mellitusC0011854
Insulin-dependent diabetes mellitusC0011854
Diabetes mellitus, insulin-dependentC0011854
IDDM1C0011854
DIABETES MELLITUS, INSULIN-DEPENDENT, 1C0011854
INSULIN-DEPENDENT DIABETES MELLITUS 1C0011854
DIABETES MELLITUS, TYPE IIC0011860
NIDDMC0011860
NONINSULIN-DEPENDENT DIABETES MELLITUSC0011860
Noninsulin-dependent diabetes mellitusC0011860
DIABETES MELLITUS, NONINSULIN-DEPENDENTC0011860
DIABETES MELLITUS, NONINSULIN-DEPENDENTC0011860
DIABETES MELLITUS, NONINSULIN-DEPENDENTC0011860
Diabetes mellitus, noninsulin-dependentC0011860
MATURITY-ONSET DIABETESC0011860
Diabetic ketoacidosisC0011880
DiaphragmC0011980
Diaphragmatic eventrationC0011981
Eventration of diaphragmC0011981
Eventration of the diaphragmC0011981
PROGRESSIVE DIAPHYSEAL DYSPLASIAC0011989
ENGELMANN DISEASEC0011989
CAMURATI-ENGELMANN DISEASEC0011989
PDDC0011989
CEDC0011989
DPD1C0011989
DIAPHYSEAL DYSPLASIA 1, PROGRESSIVEC0011989
DiarrheaC0011991
DiastemaC0011998
DIASTEMATOMYELIAC0011999
DIGEORGE SYNDROMEC0012236
THIRD AND FOURTH PHARYNGEAL POUCH SYNDROMEC0012236
DGSC0012236
HYPOPLASIA OF THYMUS AND PARATHYROIDSC0012236
CATCH22C0012236
DiplopiaC0012569
Double visionC0012569
Joint dislocationsC0012691
Joint dislocationC0012691
Colonic diverticulaC0012811
Colon diverticulaC0012819
Colonic diverticulosisC0012819
DizzinessC0012833
Double outlet right ventricleC0013069
DOUBLE-OUTLET RIGHT VENTRICLEC0013069
Double-outlet right ventricleC0013069
DORVC0013069
DOWN SYNDROMEC0013080
TRISOMY 21C0013080
DroolingC0013132
DrowsinessC0013144
DUANE SYNDROMEC0013261
RETRACTION SYNDROMEC0013261
DUSC0013261
DUANE RETRACTION SYNDROME 1C0013261
DRSC0013261
DURS1C0013261
Duane anomalyC0013261
DUANE ANOMALYC0013261
DUCHENNE MUSCULAR DYSTROPHYC0013264
DUCHENNE MUSCULAR DYSTROPHYC0013264
CARDIOMYOPATHY, DILATED, X-LINKEDC0013264
MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE TYPEC0013264
MUSCULAR DYSTROPHY, DUCHENNE TYPEC0013264
DMDC0013264
CARDIOMYOPATHY, DILATED, 3BC0013264
XLCMC0013264
CMD3BC0013264
Ductus arteriosusC0013273
Patent ductus arteriosusC0013274
PATENT DUCTUS ARTERIOSUSC0013274
PDAC0013274
PDA1C0013274
Duodenal ulcerC0013295
DUPUYTREN CONTRACTUREC0013312
DwarfismC0013336
DysarthriaC0013362
DysautonomiaC0013363
DYSAUTONOMIA, FAMILIALC0013364
RILEY-DAY SYNDROMEC0013364
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIIC0013364
FDC0013364
HSAN IIIC0013364
DYSC0013364
HSAN3C0013364
DYSCHONDROPLASIAC0013366
OSTEOCHONDROMATOSISC0013366
ENCHONDROMATOSIS, MULTIPLEC0013366
DysgammaglobulinemiaC0013374
B-K MOLE SYNDROMEC0013403
DyspneaC0013404
Respiratory difficultiesC0013404
Dystonic movementsC0013421
Torsion dystoniaC0013423
DysuriaC0013428
EarsC0013443
EBSTEIN ANOMALYC0013481
EcchymosesC0013491
EcholaliaC0013528
Ectodermal dysplasiaC0013575
Ectopia cordisC0013580
Ectopia lentisC0013581
ECTOPIA LENTISC0013581
EctropionC0013592
EczemaC0013595
Eczematoid dermatitisC0013595
EdemaC0013604
HydropsC0013604
ACUTE HEMORRHAGIC LEUKOENCEPHALITISC0014077
AHLC0014077
OLLIER DISEASEC0014084
ENDOCARDIAL CUSHION DEFECTC0014116
ECDC0014116
Endocardial fibroelastosisC0014117
ENDOCARDIAL FIBROELASTOSISC0014117
ENDOCARDIAL FIBROELASTOSISC0014117
EMFEC0014117
EFEC0014117
EFEC0014117
ENDOMYOCARDIAL FIBROELASTOSISC0014117
EndometriosisC0014175
EnophthalmosC0014306
EnterocolitisC0014356
ENTEROCOLITISC0014356
EntropionC0014390
EnuresisC0014394
EosinophiliaC0014457
EpendymomaC0014474
EPIDERMOID CYSTSC0014511
Epidermoid cystsC0014511
Sebaceous cystC0014511
EPIDERMODYSPLASIA VERRUCIFORMISC0014522
EVC0014522
EVERC0014522
EpididymitisC0014534
Seizure disorderC0014544
Myoclonic epilepsyC0014550
Seizures, myoclonicC0014550
Myoclonic seizuresC0014550
Seizures, absenceC0014553
Absence seizuresC0014553
EPILEPSY, CHILDHOOD ABSENCEC0014553
EPILEPSY, JUVENILE ABSENCEC0014553
JAEC0014553
Temporal lobe epilepsyC0014556
Psychomotor seizuresC0014556
EpispadiasC0014588
EpistaxisC0014591
ErysipelasC0014733
ERYTHERMALGIA, PRIMARYC0014805
ERYTHROMELALGIA, PRIMARYC0014805
ERYTHROMELALGIA, FAMILIALC0014805
E. coli infectionsC0014836
Esophageal achalasiaC0014848
AchalasiaC0014848
Esophageal atresiaC0014850
Esophageal strictureC0014866
Esophageal varicesC0014867
EsophagitisC0014868
EsotropiaC0014877
Convergent strabismusC0014877
Convergent squintC0014877
Skin rashC0015230
Skin rashesC0015230
ExophthalmosC0015300
ExophthalmusC0015300
ProptosisC0015300
Ocular proptosisC0015300
ExophthalmiaC0015300
Bulging eyesC0015300
DIAPHYSEAL ACLASISC0015306
MULTIPLE CARTILAGINOUS EXOSTOSESC0015306
MULTIPLE OSTEOCHONDROMATOSISC0015306
EXT1C0015306
EXTC0015306
EXOSTOSES, MULTIPLE, TYPE IC0015306
ExotropiaC0015310
Extrapyramidal syndromeC0015371
LimbsC0015385
EyeC0015392
EyesC0015392
FaceC0015450
PARRY-ROMBERG SYNDROMEC0015458
HEMIFACIAL ATROPHY, PROGRESSIVEC0015458
HFAC0015458
Facial paralysisC0015469
Facial nerve palsyC0015469
Facial palsyC0015469
Facial nerve palsy (cranial nerve VII)C0015469
FACTOR IXC0015491
COAGULATION FACTOR VC0015498
F5C0015498
COAGULATION FACTOR VIIIC0015506
F8C0015506
Factor X deficiencyC0015519
COAGULATION FACTOR XIC0015522
F11C0015522
Factor XI deficiencyC0015523
COAGULATION FACTOR XIIC0015525
HAGEMAN FACTORC0015525
F12C0015525
FACTOR XII DEFICIENCYC0015526
HAGEMAN FACTOR DEFICIENCYC0015526
F12 DEFICIENCYC0015526
HAF DEFICIENCYC0015526
Failure to thriveC0015544
`De Toni-Fanconi-Debre` syndromeC0015624
CYSTINOSIS, NEPHROPATHICC0015624
RFSC0015624
CTNSC0015624
FRTSC0015624
RENAL FANCONI SYNDROMEC0015624
Renal Fanconi syndromeC0015624
FANCONI RENOTUBULAR SYNDROMEC0015624
LYSOSOMAL CYSTINE TRANSPORT PROTEIN, DEFECT OFC0015624
CYSTINOSIN, DEFECT OFC0015624
FANCONI SYNDROME WITHOUT CYSTINOSISC0015624
FANCONI ANEMIAC0015625
Fanconi syndromeC0015625
FAC0015625
FasciculationsC0015644
FatigueC0015672
Fatty changes in liverC0015695
Fatty infiltration of liverC0015695
Liver steatosisC0015695
Hepatic steatosisC0015695
Fecal incontinenceC0015732
FELTY SYNDROMEC0015773
Femoral fracturesC0015802
FERROCHELATASEC0015880
FECHC0015880
Intrauterine deathC0015927
Fetal distressC0015930
Intrauterine growth retardationC0015934
Intrauterine growth retardation (IUGR)C0015934
Premature rupture of membranesC0015944
FeverC0015967
Fever of unknown originC0015970
Fibrocystic breast diseaseC0016034
FIBRODYSPLASIA OSSIFICANS PROGRESSIVAC0016037
FOPC0016037
FibromasC0016045
Gingival fibromatosisC0016049
FNZC0016055
FibrosarcomaC0016057
FibrosisC0016059
Polyostotic fibrous dysplasiaC0016065
POLYOSTOTIC FIBROUS DYSPLASIA OF BONEC0016065
ELLIPTOCYTOSIS, HEREDITARYC0013902
HEC0013902
ELLIS-VAN CREVELD SYNDROMEC0013903
CHONDROECTODERMAL DYSPLASIAC0013903
MESOECTODERMAL DYSPLASIAC0013903
EVCC0013903
EmphysemaC0013990
EncephalitisC0014038
EncephaloceleC0014065
Occipital encephaloceleC0014067
FistulasC0016169
Pes planusC0016202
Flat feetC0016202
FOCAL DERMAL HYPOPLASIAC0016395
GOLTZ SYNDROMEC0016395
GOLTZ-GORLIN SYNDROMEC0016395
FDHC0016395
FODHC0016395
DHOFC0016395
Food allergyC0016470
FootC0016504
FeetC0016504
Foot deformitiesC0016506
Foot deformityC0016506
Patent foramen ovaleC0016522
Atrial septal defect (ostium secundum type)C0016522
Secundum atrial septal defectC0016522
Multiple fracturesC0016655
FractureC0016658
FracturesC0016658
Spontaneous fractureC0016663
Pathologic fractureC0016663
Pathologic fracturesC0016663
FRAGILE X SYNDROMEC0016667
MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH marXq28C0016667
MARTIN-BELL SYNDROMEC0016667
MARKER X SYNDROMEC0016667
FRAGILE X MENTAL RETARDATION SYNDROMEC0016667
X-LINKED MENTAL RETARDATION AND MACROORCHIDISMC0016667
FrecklingC0016689
EphelidesC0016689
FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCYC0016756
Alpha-L-fucosidase deficiencyC0016788
Bowel dysfunctionC0016807
TEETH, FUSEDC0016873
Fused teethC0016873
`DOUBLE TOOTH`C0016873
INCISORS, FUSED MANDIBULARC0016873
GalactosemiaC0016952
GALACTOSEMIAC0016952
GALACTOSEMIA, CLASSICC0016952
GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE DEFICIENCYC0016952
GALT DEFICIENCYC0016952
GGTC0017040
GanglioneuromaC0017075
GARDNER SYNDROMEC0017097
GARDNER SYNDROMEC0017097
GSC0017097
GastrinomaC0017150
Chronic atrophic gastritisC0017154
MENETRIER DISEASEC0017155
GASTRITIS, FAMILIAL GIANT HYPERTROPHICC0017155
Gastroesophageal reflux diseaseC0017168
GASTROESOPHAGEAL REFLUX DISEASEC0017168
GASTROESOPHAGEAL REFLUXC0017168
Gastroesophageal refluxC0017168
GERC0017168
GERD1C0017168
GASTROESOPHAGEAL REFLUX, PEDIATRICC0017168
Gastrointestinal hemorrhageC0017181
GI bleedingC0017181
GI hemorrhageC0017181
Gastrointestinal bleedingC0017181
GIC0017187
GAUCHER DISEASE, NONCEREBRAL JUVENILEC0017205
GLUCOCEREBROSIDASE DEFICIENCYC0017205
ACID BETA-GLUCOSIDASE DEFICIENCYC0017205
GBA DEFICIENCYC0017205
GERSTMANN-STRAUSSLER-SCHEINKER DISEASEC0017495
GSDC0017495
PRION DEMENTIAC0017495
CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNSC0017495
GERSTMANN-STRAUSSLER DISEASEC0017495
GERSTMANN-STRAUSSLER DISEASEC0017495
ENCEPHALOPATHY, SUBACUTE SPONGIFORM, GERSTMANN-STRAUSSLER TYPEC0017495
GSSDC0017495
AMYLOIDOSIS, CEREBRAL, WITH SPONGIFORM ENCEPHALOPATHYC0017495
GILBERT SYNDROMEC0017551
GILBERT SYNDROMEC0017551
GILBERT SYNDROMEC0017551
Congenital nonhemolytic jaundiceC0017551
HYPERBILIRUBINEMIA, ARIAS TYPEC0017551
HYPERBILIRUBINEMIA IC0017551
Gingival bleedingC0017565
Bleeding gumsC0017565
Gingival hyperplasiaC0017566
Gingival hypertrophyC0017567
Gum hypertrophyC0017567
Gingival recessionC0017572
GingivitisC0017574
GlaucomaC0017601
GlioblastomaC0017636
GLIOBLASTOMAC0017636
GLIOBLASTOMAC0017636
GliomaC0017638
GliosisC0017639
GlomerulonephritisC0017658
BERGER DISEASEC0017661
IGAN1C0017661
IGANC0017661
IgA NEPHROPATHY 1C0017661
NEPHRITIS, IgA TYPEC0017661
Membranoproliferative glomerulonephritisC0017662
Membranous glomerulonephropathyC0017665
Focal segmental glomerulosclerosisC0017668
GLOMERULOSCLEROSIS, FOCAL SEGMENTALC0017668
Focal and segmental glomerulosclerosisC0017668
FSGSC0017668
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1C0017668
GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1C0017668
FSGS1C0017668
GLOMUS JUGULARE TUMORSC0017671
GLOMUS TUMORS, FAMILIAL, 1C0017671
GlossitisC0017675
GLOSSITIS, BENIGN MIGRATORYC0017677
GlucagonomaC0017689
POMPE DISEASEC0017921
ALPHA-1,4-GLUCOSIDASE DEFICIENCYC0017921
ACID MALTASE DEFICIENCYC0017921
GLYCOGEN STORAGE DISEASE IIC0017921
AMDC0017921
GLYCOGENOSIS, GENERALIZED, CARDIAC FORMC0017921
CARDIOMEGALIA GLYCOGENICA DIFFUSAC0017921
ACID ALPHA-GLUCOSIDASE DEFICIENCYC0017921
GAA DEFICIENCYC0017921
GSD IIC0017921
GSD2C0017921
CORI DISEASEC0017922
FORBES DISEASEC0017922
LIMIT DEXTRINOSISC0017922
GLYCOGEN STORAGE DISEASE IIIC0017922
Amylo-1,6-glucosidase deficiencyC0017922
AMYLO-1,6-GLUCOSIDASE DEFICIENCYC0017922
GSD IIIC0017922
GLYCOGEN DEBRANCHER DEFICIENCYC0017922
AGL DEFICIENCYC0017922
GDE DEFICIENCYC0017922
GSD3C0017922
AMYLOPECTINOSISC0017923
ANDERSEN DISEASEC0017923
BRANCHER DEFICIENCYC0017923
GSD IVC0017923
GLYCOGEN STORAGE DISEASE IVC0017923
CIRRHOSIS, FAMILIAL, WITH DEPOSITION OF ABNORMAL GLYCOGENC0017923
GLYCOGENOSIS IVC0017923
GBE1 DEFICIENCYC0017923
GLYCOGEN BRANCHING ENZYME DEFICIENCYC0017923
GSD4C0017923
MCARDLE DISEASEC0017924
MYOPHOSPHORYLASE DEFICIENCYC0017924
Muscle glycogen phosphorylase deficiencyC0017924
MUSCLE GLYCOGEN PHOSPHORYLASE DEFICIENCYC0017924
GSD VC0017924
GLYCOGEN STORAGE DISEASE VC0017924
PYGM DEFICIENCYC0017924
GSD5C0017924
Hepatic phosphorylase deficiencyC0017925
Muscle phosphofructokinase deficiencyC0017926
MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCYC0017926
TARUI DISEASEC0017926
GSD VIIC0017926
GLYCOGEN STORAGE DISEASE VIIC0017926
GSD7C0017926
PFKM DEFICIENCYC0017926
GLYCOPHORIN AC0017955
GPAC0017955
GlycosuriaC0017979
GlucosuriaC0017979
GLYCOSURIA, RENALC0017980
RENAL GLUCOSURIAC0017980
GLYS1C0017980
GoiterC0018021
SIMPLE GOITERC0018022
GOITER, MULTINODULAR 1C0018022
MNG1C0018022
MULTINODULAR GOITER, ADOLESCENTC0018022
GOITER, NONTOXIC, WITH INTRATHYROIDAL CALCIFICATIONC0018022
Nodular goiterC0018023
GOLDBLATT SYNDROMEC0018036
SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTAC0018036
Gonadal dysgenesisC0018051
GONADAL DYSGENESIS, 46,XY, PUREC0018054
GoutC0018099
Foreign body granulomasC0018193
CGD ({306400})C0018203
GRAVES DISEASEC0018213
GRDC0018213
HYPERTHYROIDISM, AUTOIMMUNEC0018213
GROWTHC0018270
GynecomastiaC0018418
HairC0018494
HALLERMANN-STREIFF SYNDROMEC0018522
HSSC0018522
Birdlike faciesC0018522
FRANCOIS DYSCEPHALIC SYNDROMEC0018522
HALLERVORDEN-SPATZ DISEASEC0018523
PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATIONC0018523
PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATIONC0018523
NBIA1C0018523
PKAN NEUROAXONAL DYSTROPHY, JUVENILE-ONSETC0018523
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1C0018523
HallucinationsC0018524
HallucinationC0018524
Hallux valgusC0018536
MULTIPLE HAMARTOMA SYNDROMEC0018553
COWDEN DISEASEC0018553
COWDEN DISEASEC0018553
COWDEN SYNDROMEC0018553
CDC0018553
CSC0018553
MHAMC0018553
HandC0018563
HandsC0018563
Hand deformitiesC0018564
Hand deformityC0018564
HARTNUP DISEASEC0018609
HARTNUP DISORDERC0018609
HNDC0018609
Hay feverC0018621
HeadC0018670
HEADC0018670
Head-bangingC0018672
HeadacheC0018681
HeadachesC0018681
Conductive hearing lossC0018777
Hearing loss, conductiveC0018777
Conductive deafnessC0018777
Hearing loss, sensorineuralC0018784
Sensorineural hearing lossC0018784
Sensorineural deafnessC0018784
Deafness, sensorineuralC0018784
DEAFNESS, SENSORINEURALC0018784
Deafness, neurosensoryC0018784
HeartC0018787
CardiacC0018787
Cardiac arrestC0018790
Heart blockC0018794
Congenital heart defectsC0018798
Congenital heart defectC0018798
HEART, MALFORMATION OFC0018798
HEART, MALFORMATION OFC0018798
CardiomegalyC0018800
Heart failureC0018801
Cardiac failureC0018801
Congestive heart failureC0018802
Cardiac murmurC0018808
CARDIAC SEPTAL DEFECTSC0018816
Septal defectsC0018816
Atrial septal defectsC0018817
Atrial septal defectC0018817
Atrial septal defect (ASD)C0018817
Atria septal defect (ASD)C0018817
Ventricular septal defectsC0018818
Ventricular septal defectC0018818
Ventricular septal defect (VSD)C0018818
Valvular heart diseaseC0018824
Heberden`s nodesC0018862
HEBERDEN NODESC0018862
HemangiomaC0018916
HemangiomasC0018916
Cavernous hemangiomaC0018920
HemarthrosisC0018924
HemarthrosesC0018924
HematemesisC0018926
HematocheziaC0018932
HematomaC0018944
HematuriaC0018965
HemiparesisC0018989
HemiplegiaC0018991
Hemolytic-uremic syndromeC0019061
FACTOR VIII DEFICIENCYC0019069
Factor VIII deficiencyC0019069
AUTOSOMAL HEMOPHILIA AC0019069
HemoptysisC0019079
HemorrhageC0019080
Hepatic comaC0019147
Hepatic encephalopathyC0019151
AUSTRALIA ANTIGENC0019168
Chronic hepatitisC0019189
HEPATOLENTICULAR DEGENERATIONC0019202
WILSON DISEASEC0019202
WDC0019202
WNDC0019202
HepatomegalyC0019209
HepatosplenomegalyC0019214
ANGIONEUROTIC EDEMA, HEREDITARYC0019243
HAEC0019243
ANGIOEDEMA, HEREDITARYC0019243
C1 esterase inhibitor deficiencyC0019243
C1 ESTERASE INHIBITOR, DEFICIENCY OFC0019243
HANEC0019243
ANGIOEDEMA, HEREDITARY, TYPE IC0019243
AFIBRINOGENEMIA, CONGENITALC0019250
HYPOFIBRINOGENEMIA, CONGENITALC0019250
HerniaC0019270
HerniasC0019270
Diaphragmatic herniaC0019284
Femoral herniaC0019288
HIATAL HERNIAC0019291
Hiatal herniaC0019291
HERNIA, HIATUSC0019291
Hiatus herniaC0019291
Inguinal herniaC0019294
Inguinal herniasC0019294
Inguinal herniaeC0019294
Umbilical herniaC0019322
Umbilical herniasC0019322
HeterogeneousC0019409
HiccupsC0019521
Hip contractureC0019553
Hip contracturesC0019553
Hip dislocationC0019554
Dislocation of hipC0019554
Dislocation of the hipC0019554
Hip dislocationsC0019554
Dislocated hipsC0019554
Congenital hip dislocationC0019555
Congenital dislocation of the hipC0019555
Congenital dislocation of the hipsC0019555
Congenital hip dislocationsC0019555
DISLOCATION OF HIP, CONGENITALC0019555
HIP, DISLOCATION OF, CONGENITALC0019555
Congenital hip dysplasiaC0019555
CONGENITAL DYSPLASIA OF THE HIPC0019555
CDHC0019555
DEVELOPMENTAL DYSPLASIA OF HIPC0019555
Hip painC0019559
Arthralgia (hip)C0019559
Hip arthralgiaC0019559
VON HIPPEL-LINDAU SYNDROMEC0019562
VON HIPPEL-LINDAU SYNDROMEC0019562
VHLC0019562
Congenital megacolonC0019569
HIRSCHSPRUNG DISEASEC0019569
Hirschsprung diseaseC0019569
AGANGLIONIC MEGACOLONC0019569
MEGACOLON, AGANGLIONICC0019569
HSCR1C0019569
MGCC0019569
HSCRC0019569
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1C0019569
Pili bifurcatiC0019571
HirsutismC0019572
HirsuitismC0019572
LANGERHANS CELL HISTIOCYTOSISC0019621
LCHC0019621
HoarsenessC0019825
Hoarse voiceC0019825
Hodgkin diseaseC0019829
HODGKIN DISEASEC0019829
Hodgkin lymphomaC0019829
HODGKIN LYMPHOMAC0019829
HomocystinuriaC0019880
StyesC0019917
Horner syndromeC0019937
Horner`s syndromeC0019937
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC0020071
HSAN IC0020071
HSAN1C0020071
HSN IC0020071
HSN1C0020071
NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL DOMINANTC0020071
NEUROPATHY, HEREDITARY SENSORY, TYPE IC0020071
CIPAC0020074
NEUROPATHY, CONGENITAL SENSORY, WITH ANHIDROSISC0020074
INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSISC0020074
HSAN IVC0020074
FAMILIAL DYSAUTONOMIA, TYPE IIC0020074
HSAN4C0020074
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY IVC0020074
INSENSITIVITY TO PAIN, CONGENITALC0020075
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VC0020075
HSAN VC0020075
HSAN5C0020075
HYDATIDIFORM MOLEC0020217
HYDMC0020217
PolyhydramniosC0020224
HydranencephalyC0020225
HydrocephalusC0020255
HYDROCEPHALUSC0020255
HydrocephalyC0020255
HYDROCEPHALYC0020255
Normal pressure hydrocephalusC0020258
HYDROCEPHALUS, NORMAL-PRESSUREC0020258
HydronephrosisC0020295
BuphthalmosC0020302
Congenital glaucomaC0020302
Juvenile glaucomaC0020302
Hydrops fetalisC0020305
Fetal hydropsC0020305
HydrothoraxC0020312
HyperaldosteronismC0020428
HypercalcemiaC0020437
HypercalciuriaC0020438
HypercholesterolemiaC0020443
HYPERBETALIPOPROTEINEMIAC0020445
HYPERLIPOPROTEINEMIA, TYPE IIC0020445
LDL RECEPTOR DISORDERC0020445
FHC0020445
FHCC0020445
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANTC0020445
HYPER-LOW-DENSITY-LIPOPROTEINEMIAC0020445
HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIALC0020445
HyperglycemiaC0020456
HyperhidrosisC0020458
HyperinsulinismC0020459
HyperinsulinemiaC0020459
HyperkalemiaC0020461
HyperlipidemiaC0020473
FAMILIAL COMBINED HYPERLIPIDEMIAC0020474
HYPERLIPIDEMIA, FAMILIAL COMBINEDC0020474
FCHLC0020474
HYPERLIPOPROTEINEMIA, TYPE IIIC0020479
FAMILIAL DYSBETALIPOPROTEINEMIAC0020479
FAMILIAL DYSBETALIPOPROTEINEMIAC0020479
FAMILIAL HYPERCHOLESTEROLEMIA WITH HYPERLIPEMIAC0020479
HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE2, ARG145CYSC0020479
HYPERLIPOPROTEINEMIA, TYPE III, AUTOSOMAL DOMINANT, CYS112ARG AND ARG142CYSC0020479
APOE, ARG145CYSC0020479
APOE, CYS112ARG AND ARG142CYSC0020479
HYPERLIPOPROTEINEMIA, TYPE IVC0020480
HYPERTRIGLYCERIDEMIA, FAMILIALC0020480
CARBOHYDRATE-INDUCIBLE HYPERLIPEMIAC0020480
HYPERLIPOPROTEINEMIA, TYPE VC0020481
HYPERLIPEMIA, MIXEDC0020481
HYPERLIPEMIA, COMBINED FAT AND CARBOHYDRATE-INDUCEDC0020481
HYPERLIPIDEMIA, TYPE VC0020481
HYPERCHYLOMICRONEMIA WITH HYPERPREBETALIPOPROTEINEMIA, FAMILIALC0020481
HYPERCHYLOMICRONEMIA, LATE-ONSETC0020481
HyperopiaC0020490
HypermetropiaC0020490
Hyperostosis frontalis internaC0020494
HYPEROSTOSIS FRONTALIS INTERNAC0020494
MORGAGNI-STEWART-MOREL SYNDROMEC0020494
Skull hyperostosisC0020496
Large headC0020496
INFANTILE CORTICAL HYPEROSTOSISC0020497
CAFFEY DISEASEC0020497
DIFFUSE IDIOPATHIC SKELETAL HYPEROSTOSISC0020498
DISHC0020498
HYPEROXALURIAC0020500
HyperparathyroidismC0020502
Secondary hyperparathyroidismC0020503
HyperphagiaC0020505
PolyphagiaC0020505
HyperprolactinemiaC0020514
ATOPIC HYPERSENSITIVITYC0020523
HypersplenismC0020532
HypertelorismC0020534
HYPERTELORISMC0020534
HypertensionC0020538
Systemic hypertensionC0020538
Portal hypertensionC0020541
Pulmonary hypertensionC0020542
Hypertension, renalC0020544
HyperthyroidismC0020550
HypertrichosisC0020555
HypertropiaC0020575
HyperventilationC0020578
HypoaldosteronismC0020595
HypobetalipoproteinemiaC0020597
HypocalcemiaC0020598
HypocalciuriaC0020599
HypodontiaC0020608
OligodontiaC0020608
HYD1C0020608
TOOTH AGENESIS, FAMILIALC0020608
SECOND PREMOLARS AND THIRD MOLARS, ABSENCE OFC0020608
STHAG1C0020608
HYPODONTIA/OLIGODONTIA 1C0020608
TOOTH AGENESIS, SELECTIVE, 1C0020608
HypoglycemiaC0020615
Coma, hypoglycemicC0020617
HypogonadismC0020619
HypohidrosisC0020620
HypokalemiaC0020621
HyponatremiaC0020625
HypoparathyroidismC0020626
HypopituitarismC0020635
HypoproteinemiaC0020639
HYPOPROTHROMBINEMIAC0020640
HypotensionC0020649
Low blood pressureC0020649
Orthostatic hypotensionC0020651
Postural hypotensionC0020651
Hypothalamic tumorC0020659
HypothermiaC0020672
HypothyroidismC0020676
HypotrichosisC0020678
BLOOD GROUP--I SYSTEMC0020717
IiC0020717
I-CELL DISEASEC0020725
MUCOLIPIDOSIS IIC0020725
Deficiency of N-acetylglucosamine-1-phosphotransferaseC0020725
ML IIC0020725
ICDC0020725
IchthyosisC0020758
ICHTHYOSIS CONGENITAC0020758
LAMELLAR ICHTHYOSISC0020758
LIC0020758
LI1C0020758
COLLODION FETUSC0020758
LAMELLAR EXFOLIATION OF NEWBORNC0020758
LAMELLAR ICHTHYOSIS, TYPE 1C0020758
DESQUAMATION OF NEWBORNC0020758
ICR2C0020758
ICHTHYOSIS CONGENITA IIC0020758
ICHTHYOSIS, LAMELLAR, 1C0020758
ICHTHYOSIS, LAMELLAR, 1C0020758
ICHTHYOSIS, LAMELLAR, 1C0020758
ICHTHYOSIS, LAMELLAR, 1C0020758
Mental retardation, profoundC0020796
Profound mental retardationC0020796
PULMONARY HEMOSIDEROSISC0020807
IDURONATE 2-SULFATASEC0020814
IDSC0020814
ImmunodeficiencyC0021051
Congenital septal defectsC0021165
BLOCH-SULZBERGER SYNDROMEC0021171
INCONTINENTIA PIGMENTIC0021171
IPC0021171
IP2, FORMERLYC0021171
INCONTINENTIA PIGMENTI, TYPE II, FORMERLYC0021171
INCONTINENTIA PIGMENTI, FAMILIAL MALE-LETHAL TYPEC0021171
Small for gestational age infantC0021296
InfertilityC0021359
Female infertilityC0021361
Male infertilityC0021364
InflammationC0021368
Chronic inflammationC0021376
Inflammatory bowel diseaseC0021390
Insulin resistanceC0021655
INSULIN RESISTANCEC0021655
InsulinomaC0021670
EnteropathyC0021831
Bowel obstructionC0021843
Intestinal pseudo-obstructionC0021847
IntussusceptionC0021933
INTUSSUSCEPTIONC0021933
IridocyclitisC0022073
Irritable bowel syndromeC0022104
IrritabilityC0022107
IrritibilityC0022107
Seizure (Jacksonian)C0022333
JANSKY-BIELSCHOWSKY DISEASEC0022340
NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILEC0022340
LINCLC0022340
JaundiceC0022346
DUBIN-JOHNSON SYNDROMEC0022350
HYPERBILIRUBINEMIA IIC0022350
DJSC0022350
Jaundice, neonatalC0022353
Neonatal jaundiceC0022353
JERVELL AND LANGE-NIELSEN SYNDROMEC0022387
JERVELL AND LANGE-NIELSEN SYNDROMEC0022387
JLNS1C0022387
DEAFNESS, CONGENITAL, AND FUNCTIONAL HEART DISEASEC0022387
PROLONGED QT INTERVAL IN EKG AND SUDDEN DEATHC0022387
SURDO-CARDIAC SYNDROMEC0022387
CARDIOAUDITORY SYNDROME OF JERVELL AND LANGE-NIELSENC0022387
JOB SYNDROMEC0022398
HYPER-IgE SYNDROME, AUTOSOMAL DOMINANTC0022398
HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANTC0022398
HIES, AUTOSOMAL DOMINANTC0022398
ArthropathyC0022408
KARTAGENER SYNDROMEC0022521
KARTAGENER SYNDROMEC0022521
SIEWERT SYNDROMEC0022521
DEXTROCARDIA, BRONCHIECTASIS, AND SINUSITISC0022521
KEARNS-SAYRE SYNDROMEC0022541
CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOPATHYC0022541
OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL, WITH RAGGED-RED FIBERSC0022541
OPHTHALMOPLEGIA, PIGMENTARY DEGENERATION OF RETINA, AND CARDIOMYOPATHYC0022541
CPEO WITH RAGGED-RED FIBERSC0022541
KSSC0022541
CPEO WITH MYOPATHYC0022541
KeloidC0022548
KeloidsC0022548
KELOIDSC0022548
KeratitisC0022568
KeratoacanthomasC0022572
KeratoconjunctivitisC0022573
Keratoconjunctivitis siccaC0022575
KeratoconusC0022578
TYLOSISC0022584
UNNA-THOST DISEASE, EPIDERMOLYTICC0022584
PALMOPLANTAR KERATODERMA, EPIDERMOLYTICC0022584
KERATODERMA, EPIDERMOLYTIC PALMOPLANTARC0022584
EPPKC0022584
HYPERKERATOSIS, LOCALIZED EPIDERMOLYTICC0022584
KERATOSIS OF GREITHERC0022584
PALMOPLANTAR KERATODERMA, VORNER TYPEC0022584
KERATOSIS PALMARIS ET PLANTARIS FAMILIARISC0022584
KERATOSIS FOLLICULARISC0022595
DARIER DISEASEC0022595
DARIER-WHITE DISEASEC0022595
DDC0022595
DARC0022595
Palmoplantar keratosisC0022596
Palmoplantar keratosesC0022596
Hyperkeratosis of palms and solesC0022596
Hyperkeratosis of the palms and solesC0022596
Palmoplantar keratodermaC0022596
SEBORRHEIC KERATOSESC0022603
KernicterusC0022610
Bilirubin encephalopathyC0022610
OXOGLUTARATE DEHYDROGENASEC0022626
OGDHC0022626
KetosisC0022638
KidneyC0022646
KidneysC0022646
Kidney stonesC0022650
Renal calculiC0022650
Renal stonesC0022650
NephropathyC0022658
Acute renal failureC0022660
Chronic renal failureC0022661
Renal failure, chronicC0022661
End stage renal diseaseC0022661
End-stage renal diseaseC0022661
End stage renal failureC0022661
Renal tumorsC0022665
Renal transplantC0022671
Cystic kidneyC0022679
Cystic kidneysC0022679
Polycystic kidney diseaseC0022680
POLYCYSTIC KIDNEY DISEASEC0022680
POLYCYSTIC KIDNEYSC0022680
PKDC0022680
KINKY HAIR DISEASEC0022716
COPPER TRANSPORT DISEASEC0022716
MENKES DISEASEC0022716
STEELY HAIR DISEASEC0022716
MKC0022716
MENKEA SYNDROMEC0022716
MNKC0022716
Klebsiella infectionsC0022729
Fusion of cervical vertebraeC0022738
Cervical vertebral fusionC0022738
KLIPPEL-TRENAUNAY-WEBER SYNDROMEC0022739
KLIPPEL-TRENAUNAY SYNDROMEC0022739
KTSC0022739
ANGIOOSTEOHYPERTROPHY SYNDROMEC0022739
KTW SYNDROMEC0022739
ADULT NEURONAL CEROID LIPOFUSCINOSISC0022797
KUFS DISEASEC0022797
KUFS DISEASE, AUTOSOMAL RECESSIVEC0022797
CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVEC0022797
CLN4AC0022797
KyphosisC0022821
GibbusC0022821
Premature laborC0022876
LABORATORYC0022877
Lacrimal duct obstructionC0022906
LACTATE DEHYDROGENASE-KC0022922
LDHKC0022922
LACTOSE INTOLERANCEC0022951
LACTOSE SYNTHETASEC0022952
LAMININ MC0022985
LAMMC0022985
LANGER-GIEDION SYNDROMEC0023003
TRICHORHINOPHALANGEAL SYNDROME, TYPE IIC0023003
LGSC0023003
TRPS2C0023003
Language delayC0023012
Language impairmentC0023015
Laryngeal edemaC0023052
Laryngeal spasmsC0023066
LaryngospasmC0023066
Laryngeal stridorC0023066
Laryngeal stenosisC0023075
LarynxC0023078
LAURENCE-MOON SYNDROMEC0023138
LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCYC0023195
LCAT DEFICIENCYC0023195
NORUM DISEASEC0023195
Leg crampsC0023218
Leg length discrepancyC0023221
Leg painC0023222
LEGG-PERTHES DISEASEC0023234
Coxa planaC0023234
PERTHES DISEASEC0023234
LEGG-CALVE-PERTHES DISEASEC0023234
LEGG-CALVE-PERTHES DISEASEC0023234
LCPC0023234
LCPDC0023234
SNEC0023264
LEIGH SYNDROMEC0023264
LEIGH SYNDROMEC0023264
LEIGH SYNDROMEC0023264
LEIGH SYNDROMEC0023264
LEIGH SYNDROMEC0023264
LEIGH SYNDROMEC0023264
LEIGH SYNDROMEC0023264
LEIGH SYNDROMEC0023264
LEIGH SYNDROMEC0023264
LEIGH SYNDROMEC0023264
LSC0023264
MTTK, 8344A-G; G8344; MTTK*MERRF8344C0023264
NECROTIZING ENCEPHALOPATHY, INFANTILE SUBACUTE, OF LEIGHC0023264
MERRF SYNDROME, 8344A-G; G8344; MTTK*MERRF8344C0023264
MTTV, 1624C-TC0023264
NEONATAL DEATH, 1624C-TC0023264
LeiomyomasC0023267
Lens dislocationC0023309
Dislocated lensC0023309
Dislocated lensesC0023309
Lens subluxationC0023316
LENTIGINESC0023321
LESCH-NYHAN SYNDROMEC0023374
LNSC0023374
HPRT DEFICIENCY, COMPLETEC0023374
HPRT DEFICIENCYC0023374
HPRT1 DEFICIENCYC0023374
HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1 DEFICIENCYC0023374
LethargyC0023380
LETTERER-SIWE DISEASEC0023381
HISTIOCYTOSIS X, ACUTE DISSEMINATEDC0023381
L-S DISEASEC0023381
LESDC0023381
LeukemiaC0023418
Lymphocytic lymphomaC0023436
ERYTHROLEUKEMIAC0023440
Acute lymphatic leukemiaC0023449
Acute lymphoblastic leukemiaC0023449
LEUKEMIA, ACUTE LYMPHOBLASTICC0023449
LEUKEMIA, ACUTE LYMPHOBLASTICC0023449
LEUKEMIA, CHRONIC LYMPHOCYTICC0023458
LEUKEMIA, CHRONIC LYMPHATICC0023458
CLLC0023458
Acute megakaryocytic leukemiaC0023462
Acute monocytic leukemiaC0023465
LEUKEMIA, ACUTE MONOCYTICC0023465
Acute myelocytic leukemiaC0023467
Acute myeloid leukemiaC0023467
LEUKEMIA, ACUTE MYELOIDC0023467
Acute myeloblastic leukemiaC0023467
Acute myelogenous leukemiaC0023467
ACUTE MYELOGENOUS LEUKEMIAC0023467
LEUKEMIA, ACUTE MYELOGENOUSC0023467
LEUKEMIA, ACUTE MYELOGENOUSC0023467
AMLC0023467
LEUKEMIA, CHRONIC MYELOIDC0023473
Chronic myelogenous leukemiaC0023473
LEUKEMIA, CHRONIC MYELOGENOUSC0023473
CMLC0023473
T-CELL ACUTE LYMPHOBLASTIC LEUKEMIAC0023493
Leukemoid reactionsC0023501
LeukocytosisC0023518
LeukodystrophyC0023520
GLOBOID CELL LEUKODYSTROPHYC0023521
KRABBE DISEASEC0023521
GALACTOSYLCERAMIDE BETA-GALACTOSIDASE DEFICIENCYC0023521
GALACTOCEREBROSIDASE DEFICIENCYC0023521
GCLC0023521
GLDC0023521
GLOBOID CELL LEUKOENCEPHALOPATHYC0023521
GALC DEFICIENCYC0023521
METACHROMATIC LEUKODYSTROPHYC0023522
SULFATIDE LIPIDOSISC0023522
METACHROMATIC LEUKOENCEPHALOPATHYC0023522
ARYLSULFATASE A DEFICIENCYC0023522
CEREBROSIDE SULFATASE DEFICIENCYC0023522
MLDC0023522
CEREBRAL SCLEROSIS, DIFFUSE, METACHROMATIC FORMC0023522
ARSA DEFICIENCYC0023522
Periventricular leukomalaciaC0023529
LeukopeniaC0023530
LeukoplakiaC0023531
Oral leukoplakiaC0023532
BLOOD GROUP--LEWIS SYSTEMC0023595
LeC0023595
Leydig cell hyperplasiaC0023600
LICHEN SCLEROSUS ET ATROPHICUSC0023652
LSAC0023652
DIAPHORASEC0023783
DIA1C0023783
LIPOID PROTEINOSIS OF URBACH AND WIETHEC0023795
HYALINOSIS CUTIS ET MUCOSAEC0023795
LIPOPROTEINOSISC0023795
LipomaC0023798
LIPOMAC0023798
LipomasC0023798
LIPOC0023798
LIPOMATOSIS, MULTIPLEC0023798
LIPOMUCOPOLYSACCHARIDOSISC0023806
HYPERLIPOPROTEINEMIA, TYPE IC0023817
LIPOPROTEIN LIPASE DEFICIENCYC0023817
LIPASE D DEFICIENCYC0023817
HYPERLIPEMIA, IDIOPATHIC, BURGER-GRUTZ TYPEC0023817
LPL DEFICIENCYC0023817
HYPERLIPEMIA, ESSENTIAL FAMILIALC0023817
LIPOTROPINC0023832
Spastic diplegiaC0023882
LiverC0023884
Liver cirrhosisC0023890
CirrhosisC0023890
Hepatic cirrhosisC0023890
Biliary cirrhosisC0023892
OSTEOGENESIS IMPERFECTA TARDAC0023931
OSTEOGENESIS IMPERFECTA WITH BLUE SCLERAEC0023931
OSTEOGENESIS IMPERFECTA, TYPE IC0023931
OI, TYPE IC0023931
OI1C0023931
LONGEVITYC0023980
LONGEVITYC0023980
LordosisC0024003
Lower back painC0024031
LumbagoC0024031
Low birth weightC0024032
LungC0024109
LungC0024109
LungsC0024109
Chronic obstructive pulmonary diseaseC0024117
SYSTEMIC LUPUS ERYTHEMATOSUSC0024141
Systemic lupus erythematosusC0024141
SLEC0024141
CHILBLAIN LUPUSC0024145
CHBLC0024145
LymphadenitisC0024205
LymphangiectasiaC0024214
Intestinal lymphangiectasiaC0024215
LymphangiomaC0024221
LymphadenopathyC0024228
LymphedemaC0024236
LymphomaC0024299
LymphomasC0024299
FOLLICULAR LYMPHOMAC0024301
Follicular non-Hodgkin lymphomaC0024301
RETICULUM CELL SARCOMAC0024302
NON-HODGKIN LYMPHOMAC0024305
LYMPHOMA, NON-HODGKINC0024305
LYMPHOMA, NON-HODGKINC0024305
Non-Hodgkin lymphomaC0024305
NHLC0024305
LYMPHOMA, NON-HODGKIN, FAMILIALC0024305
Lymphoid granulomatosisC0024307
LymphopeniaC0024312
LymphocytopeniaC0024312
MACHADO-JOSEPH DISEASEC0024408
SPINOPONTINE ATROPHYC0024408
SPINOCEREBELLAR ATAXIA 3C0024408
SCA3C0024408
MJDC0024408
NIGROSPINODENTATAL DEGENERATIONC0024408
AZOREAN NEUROLOGIC DISEASEC0024408
SPINOCEREBELLAR ATROPHY IIIC0024408
Tongue hypertrophyC0024421
Large tongueC0024421
MacrostomiaC0024433
Macular degenerationC0024437
Macular corneal dystrophyC0024439
MACULAR EDEMA, CYSTOIDC0024440
CYSTOID MACULAR DYSTROPHYC0024440
CYMDC0024440
MACULAR DYSTROPHY, DOMINANT CYSTOIDC0024440
MDDCC0024440
MSLC0024445
LMSC0024445
LIPOMATOSIS, MULTIPLE SYMMETRICC0024445
LIPOMATOSIS, FAMILIAL BENIGN CERVICALC0024445
LIPODYSTROPHY, CEPHALOTHORACICC0024445
MAFFUCCI SYNDROMEC0024454
MAJEWSKI SYNDROMEC0024507
SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIC0024507
SRPS, TYPE IIC0024507
POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE IIC0024507
MalabsorptionC0024523
HYPERPYREXIA, MALIGNANTC0024591
HYPERTHERMIA OF ANESTHESIAC0024591
MHSC0024591
MHC0024591
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1C0024591
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1C0024591
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1C0024591
MHS1C0024591
Primary liver cancerC0024620
GASTRIC CANCERC0024623
GASTRIC CANCERC0024623
MalocclusionC0024636
Dental malocclusionC0024636
ALPHA-MANNOSIDOSISC0024748
MANNOSIDOSIS, ALPHA B, LYSOSOMALC0024748
LYSOSOMAL ALPHA-D-MANNOSIDASE DEFICIENCYC0024748
ALPHA-MANNOSIDASE B DEFICIENCYC0024748
ALPHA-MANNOSIDOSIS, TYPE IC0024748
MAPLE SYRUP URINE DISEASEC0024776
BRANCHED-CHAIN KETOACIDURIAC0024776
BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE DEFICIENCYC0024776
BCKD DEFICIENCYC0024776
MSUDC0024776
KETO ACID DECARBOXYLASE DEFICIENCYC0024776
PAROXYSMAL NOCTURNAL HEMOGLOBINURIAC0024790
PNHC0024790
MARFAN SYNDROMEC0024796
MFSC0024796
MARFAN SYNDROME, TYPE IC0024796
MFS1C0024796
MARINESCO-SJOGREN SYNDROMEC0024814
MSSC0024814
MASTOCYTOSISC0024899
MAST CELL DISEASEC0024899
MastoiditisC0024904
MECKEL DIVERTICULUMC0025037
Meckel diverticulumC0025037
MedulloblastomaC0025149
MEDULLOBLASTOMAC0025149
MEDULLOBLASTOMAC0025149
MEDULLOBLASTOMAC0025149
MDBC0025149
MegacolonC0025160
MelanomaC0025202
Malignant melanomaC0025202
MELEDA DISEASEC0025221
MAL DE MELEDAC0025221
MDMC0025221
KERATOSIS PALMOPLANTARIS TRANSGRADIENS OF SIEMENSC0025221
MelenaC0025222
MELKERSSON-ROSENTHAL SYNDROMEC0025235
MRSC0025235
MELKERSSON SYNDROMEC0025235
MROSC0025235
MELNICK-NEEDLES SYNDROMEC0025237
MNSC0025237
MELNICK-NEEDLES OSTEODYSPLASTYC0025237
OSTEODYSPLASTY OF MELNICK AND NEEDLESC0025237
MELORHEOSTOSISC0025239
SIPPLE SYNDROMEC0025268
MEN2AC0025268
PTC SYNDROMEC0025268
PHEOCHROMOCYTOMA AND AMYLOID-PRODUCING MEDULLARY THYROID CARCINOMAC0025268
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIAC0025268
MEN IIBC0025269
MEN2BC0025269
MUCOSAL NEUROMA SYNDROMEC0025269
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIBC0025269
MULTIPLE ENDOCRINE NEOPLASIA, TYPE III, FORMERLYC0025269
NEUROMATA, MUCOSAL, WITH ENDOCRINE TUMORSC0025269
MEN3, FORMERLYC0025269
WAGENMANN-FROBOESE SYNDROMEC0025269
MENIERE DISEASEC0025281
MENIERE DISEASEC0025281
Meniere syndromeC0025281
MeningiomaC0025286
MENINGIOMAC0025286
MeningitisC0025289
MeningoencephalitisC0025309
MeningomyeloceleC0025312
MyelomeningoceleC0025312
MenorrhagiaC0025323
Mental RetardationC0025362
Mental retardationC0025362
Mental retardatioC0025362
ONCOGENE MOSC0026574
MOSC0026574
MSVC0026574
V-MOS MOLONEY MURINE SARCOMA VIRAL ONCOGENE HOMOLOGC0026574
MOLONEY MURINE SARCOMA VIRUSC0026574
MOTION SICKNESSC0026603
Mottled enamelC0026618
MovementC0026649
Movement disordersC0026650
MOYAMOYA DISEASEC0026654
MoyamoyaC0026654
MOYAMOYA DISEASE 1C0026654
MYMYC0026654
SPONTANEOUS OCCLUSION OF THE CIRCLE OF WILLISC0026654
MYMY1C0026654
MELANOCYTE-STIMULATING HORMONEC0026667
MELANOTROPINC0026667
MUCOCUTANEOUS LYMPH NODE SYNDROMEC0026691
KAWASAKI DISEASEC0026691
KDC0026691
INFANTILE POLYARTERITISC0026691
SCHEIE SYNDROMEC0026708
MUCOPOLYSACCHARIDOSIS TYPE ISC0026708
Multiple epiphyseal dysplasiaC0026760
MYELOMA, MULTIPLEC0026764
Muscle crampsC0026821
Muscles crampsC0026821
HypertoniaC0026826
Increased muscle toneC0026826
Increased toneC0026826
HypotoniaC0026827
Muscular hypotoniaC0026827
Muscle rigidityC0026837
Muscular rigidityC0026837
RigidityC0026837
SpasticityC0026838
spasticityC0026838
MUSCLEC0026845
MUSCLE, SOFT TISSUEC0026845
Muscular atrophyC0026846
Muscle atrophyC0026846
AmyotrophyC0026846
Muscle wastingC0026846
MyopathyC0026848
Muscular dystrophyC0026850
MUTATIONC0026882
MutismC0026884
MYASTHENIA GRAVISC0026896
MGC0026896
ONCOGENE MYBC0026900
V-MYB AVIAN MYELOBLASTOSIS VIRAL ONCOGENE HOMOLOGC0026900
MYBC0026900
ONCOGENE AMVC0026900
AVIAN MYELOBLASTOSIS VIRAL ONCOGENE HOMOLOGC0026900
MYCOSIS FUNGOIDESC0026948
MyelodysplasiaC0026985
Myeloproliferative diseaseC0027022
Myeloproliferative disorderC0027022
Myocardial infarctionC0027051
Myocardial infarction (MI)C0027051
MyoclonusC0027066
Myoclonic jerksC0027066
MyoglobinuriaC0027080
MyopiaC0027092
MYOSITISC0027121
IIMC0027121
MYOPATHY, FAMILIAL IDIOPATHIC INFLAMMATORYC0027121
MyotoniaC0027125
STEINERT DISEASEC0027126
DYSTROPHIA MYOTONICAC0027126
DMC0027126
DM1C0027126
DYSTROPHIA MYOTONICA 1C0027126
MYOTONIC DYSTROPHY 1C0027126
THOMSEN DISEASEC0027127
THDC0027127
MYOTONIA CONGENITA, AUTOSOMAL DOMINANTC0027127
MYOTONIA CONGENITA, AUTOSOMAL DOMINANTC0027127
MYOTONIA CONGENITA, AUTOSOMAL DOMINANTC0027127
MYXEDEMAC0027145
NAIL-PATELLA SYNDROMEC0027341
TURNER-KIESER SYNDROMEC0027341
NPSC0027341
FONG DISEASEC0027341
NPS1C0027341
ONYCHOOSTEODYSPLASIAC0027341
NailsC0027342
Nasal congestionC0027424
Nasal stuffinessC0027424
Nasal obstructionC0027429
Nasal polypsC0027430
Nasal polyposisC0027430
NasopharynxC0027442
Natal teethC0027443
NATAL TEETHC0027443
TEETH PRESENT AT BIRTHC0027443
NauseaC0027497
NeckC0027530
Cellular necrosisC0027540
NEOPLASMC0027651
NEOPLASIAC0027651
Embryonal tumorsC0027654
NephritisC0027697
Interstitial nephritisC0027707
NephroblastomaC0027708
NEPHROBLASTOMAC0027708
WILMS TUMORC0027708
Wilms tumorC0027708
WILMS TUMOR 1C0027708
WT1C0027708
Nephroblastoma (Wilms tumor)C0027708
NephrocalcinosisC0027709
NephrosclerosisC0027719
NephrosisC0027720
Nephrotic syndromeC0027726
NeurodegenerationC0027746
NESIDIOBLASTOSISC0027773
PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCYC0027773
HYPERINSULINISM, CONGENITALC0027773
PHHIC0027773
HYPERINSULINISM, FAMILIALC0027773
HYPERINSULINISM, NEONATALC0027773
HHF2C0027773
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2C0027773
HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENTC0027773
NEURAL TUBE DEFECTSC0027794
NTDC0027794
SchwannomaC0027809
SchwannomasC0027809
NeuroblastomaC0027819
NEUROBLASTOMAC0027819
NBC0027819
NBSC0027819
NeurofibromasC0027830
NEUROFIBROMATOSIS, TYPE IC0027831
BILATERAL ACOUSTIC NEUROFIBROMATOSISC0027832
ACOUSTIC NEURINOMA, BILATERALC0027832
ACNC0027832
NEUROFIBROMATOSIS, TYPE IIC0027832
NF2C0027832
BANFC0027832
NEUROFIBROMATOSIS, CENTRAL TYPEC0027832
Vestibular schwannomaC0027859
Vestibular SchwannomaC0027859
NEUROPHYSIN IC0027897
NEUROPHYSIN IIC0027898
NPIIC0027898
NeutropeniaC0027947
NeviC0027962
Pigmented neviC0027962
PIGMENTED MOLESC0027962
Night blindnessC0028077
NyctalopiaC0028077
NYCTALOPIAC0028077
NodulesC0028259
NOONAN SYNDROMEC0028326
TURNER PHENOTYPE WITH NORMAL KARYOTYPEC0028326
NS1C0028326
NOONAN SYNDROME 1C0028326
NoseC0028429
NumbnessC0028643
NocturiaC0028734
NystagmusC0028738
ObesityC0028754
OBESITYC0028754
OBESITY, SEVEREC0028756
Obsessive compulsive disorderC0028768
Obsessive-compulsive disorderC0028768
LOWE SYNDROMEC0028860
LOWE OCULOCEREBRORENAL SYNDROMEC0028860
PHOSPHATIDYLINOSITOL 4,5-BISPHOSPHATE 5-PHOSPHATASE DEFICIENCYC0028860
OCRL1C0028860
OCRLC0028860
OdontomasC0028882
OLIGODENDROGLIOMAC0028945
OligomenorrheaC0028949
OligospermiaC0028960
HYPOSPERMATOGENESISC0028960
Olivopontocerebellar atrophyC0028968
Olivopontocerebellar degenerationC0028968
OphthalmoplegiaC0029089
Extraocular muscle paralysisC0029089
Opportunistic infectionsC0029118
Optic atrophyC0029124
Optic nerve atrophyC0029124
Optic neuropathyC0029132
Oral bleedingC0029163
OATC0029278
ORNITHINE AMINOTRANSFERASEC0029278
PAGET DISEASE OF BONEC0029401
PDBC0029401
OsteoarthritisC0029408
OSTEOARTHRITISC0029408
OsteoarthrosisC0029408
OSTEOARTHROSISC0029408
Degenerative joint diseaseC0029408
OAC0029408
Hip osteoarthritisC0029410
Hip arthrosisC0029410
PACHYDERMOPERIOSTOSISC0029411
PDPC0029411
HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY OR IDIOPATHICC0029411
OSTEOCHONDRITIS DISSECANSC0029421
ASEPTIC NECROSISC0029421
ODC0029421
OsteochondromaC0029423
OsteolysisC0029435
IDIOPATHIC MULTICENTRIC OSTEOLYSISC0029437
IMOC0029437
OSTEOLYSIS, HEREDITARY, OF CARPAL BONES WITH NEPHROPATHYC0029437
OSTEOLYSIS, MASSIVEC0029438
GSDC0029438
CYSTIC ANGIOMATOSIS OF BONE, DIFFUSEC0029438
GORHAM-STOUT DISEASEC0029438
OSTEOID OSTEOMAC0029441
OsteomalaciaC0029442
OsteomyelitisC0029443
OsteonecrosisC0029445
OsteopeniaC0029453
OSTEOPOIKILOSISC0029455
OsteoporosisC0029456
OSTEOPOROSIS, POSTMENOPAUSALC0029458
OSTEOPOROSIS, SENILEC0029459
OSTEOPOROSIS, INVOLUTIONALC0029459
OsteosarcomasC0029463
Osteogenic sarcomaC0029463
OsteosclerosisC0029464
Otitis mediaC0029882
OtosclerosisC0029899
OTOSCLEROSISC0029899
OTSC0029899
OTSC1C0029899
Ovarian carcinomaC0029925
Ovarian cystsC0029927
AcrocephalyC0030044
OXYCEPHALYC0030044
TurricephalyC0030044
OzenaC0030105
BLOOD GROUP, P SYSTEMC0030108
PAGET DISEASE, EXTRAMAMMARYC0030186
Palatal myoclonusC0030214
PallorC0030232
PalpitationsC0030252
PancreasC0030274
Pancreatic cystsC0030283
Pancreatic insufficiencyC0030293
PancreatitisC0030305
PancytopeniaC0030312
Bone marrow failureC0030312
PapilledemaC0030353
PAPILLON-LEFEVRE SYNDROMEC0030360
PALSC0030360
PLSC0030360
KERATOSIS PALMOPLANTARIS WITH PERIODONTOPATHIAC0030360
ParagangliomaC0030421
ParagangliomasC0030421
PARAGANGLIOMATAC0030421
PARAGANGLIOMAS 1C0030421
PGL1C0030421
PGLC0030421
PARAGANGLIOMAS, FAMILIAL, 1C0030421
CHEMODECTOMASC0030422
PARAGANGLIOMAS, FAMILIAL NONCHROMAFFIN, 1C0030422
ParakeratosisC0030436
Bulbar palsiesC0030442
Paralytic ileusC0030446
Paraneoplastic syndromesC0030472
MYELOPATHY, HTLV-1-ASSOCIATEDC0030481
HAMC0030481
FAMILIAL SPASTIC PARAPARESIS, HTLV-1-ASSOCIATEDC0030481
ParaplegiaC0030486
ParesthesiaC0030554
ParesthesiasC0030554
ParaesthesiasC0030554
PARKINSON DISEASEC0030567
PARKINSON DISEASEC0030567
PARKINSON DISEASEC0030567
PARKINSON DISEASEC0030567
PDC0030567
ParonychiaC0030578
PARS PLANITISC0030593
GAMBLING, PATHOLOGICC0030662
PELGER-HUET ANOMALYC0030779
PHAC0030779
PelvisC0030797
PEYRONIE DISEASEC0030848
Periapical abscessesC0031024
Pericardial effusionC0031039
Pericardial effusionsC0031039
PericarditisC0031046
FAMILIAL MEDITERRANEAN FEVERC0031069
POLYSEROSITIS, FAMILIAL PAROXYSMALC0031069
FMFC0031069
POLYSEROSITIS, RECURRENTC0031069
FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL RECESSIVEC0031069
Periodontal diseaseC0031090
PeriodontitisC0031099
PERIODONTITIS, CHRONICC0031099
Peripheral neuropathyC0031117
PeritonitisC0031154
PetechiaeC0031256
PEUTZ-JEGHERS SYNDROMEC0031269
POLYPOSIS, HAMARTOMATOUS INTESTINALC0031269
POLYPS-AND-SPOTS SYNDROMEC0031269
PJSC0031269
PharyngitisC0031350
PharynxC0031354
PHENYLALANINEMIAC0031485
PheochromocytomaC0031511
PHEOCHROMOCYTOMAC0031511
PHEOCHROMOCYTOMAC0031511
PHEOCHROMOCYTOMAC0031511
PHEOCHROMOCYTOMAC0031511
PHEOCHROMOCYTOMAC0031511
PHEOCHROMOCYTOMAC0031511
PHEOCHROMOCYTOMAC0031511
PHEOCHROMOCYTOMAC0031511
PHEOCHROMOCYTOMAC0031511
PHEOCHROMOCYTOMAC0031511
PHEOCHROMOCYTOMAC0031511
PHEOCHROMOCYTOMAC0031511
PHEOCHROMOCYTOMAC0031511
PHEOCHROMOCYTOMAC0031511
PHEOCHROMOCYTOMAC0031511
Pheochromocytoma, adrenalC0031511
PhimosisC0031538
PhocomeliaC0031575
MicrocephalyC0025958
MicroglossiaC0025988
HypoglossiaC0025988
MicrognathiaC0025990
Small jawC0025990
MicromeliaC0025995
MicrophthalmosC0026010
MicrophthalmiaC0026010
MicrostomiaC0026034
Mental retardation, mildC0026106
Mild mental retardationC0026106
MiosisC0026205
Mental retardation, moderateC0026351
MOHR SYNDROMEC0026363
OROFACIODIGITAL SYNDROME IIC0026363
ORAL-FACIAL-DIGITAL SYNDROME, TYPE IIC0026363
OFD2C0026363
OFD SYNDROME IIC0026363
Valvular disease (mitral)C0026265
Mitral valve insufficiencyC0026266
Mitral insufficiencyC0026266
Mitral regurgitationC0026266
Mitral valve regurgitationC0026266
Mitral valve prolapseC0026267
PROLAPSED MITRAL VALVEC0026267
BARLOW SYNDROMEC0026267
FLOPPY MITRAL VALVEC0026267
NEUROCIRCULATORY ASTHENIAC0026267
MITRAL VALVE PROLAPSE SYNDROMEC0026267
SOLDIERS HEARTC0026267
MITRAL VALVE PROLAPSE, FAMILIALC0026267
MVPC0026267
CLICK-MURMUR SYNDROMEC0026267
PMVC0026267
ORTHOSTATIC INTOLERANCEC0026267
MITRAL REGURGITATION, FAMILIALC0026267
IRRITABLE HEARTC0026267
MYXOMATOUS VALVULAR DISEASE, FAMILIALC0026267
Mitral stenosisC0026269
OBESITY-HYPOVENTILATION SYNDROMEC0031880
PICKWICKIAN SYNDROMEC0031880
PIERRE ROBIN SYNDROMEC0031900
Pierre Robin syndromeC0031900
Robin sequenceC0031900
GLOSSOPTOSIS, MICROGNATHIA, AND CLEFT PALATEC0031900
Pierre Robin sequenceC0031900
PIERRE ROBIN SEQUENCEC0031900
Pierre-Robin sequenceC0031900
PigmentationC0031911
PILONIDAL SINUSC0031925
Pilonidal sinusC0031925
Pituitary adenomaC0032000
PITYRIASIS RUBRA PILARISC0032027
DELTA STORAGE POOL DISEASEC0032197
PlatybasiaC0032209
Basilar impressionC0032209
Pleural effusionC0032227
Pleural effusionsC0032227
PleuritisC0032231
PneumoniaC0032285
Aspiration pneumoniaC0032290
PneumothoraxC0032326
ROTHMUND-THOMSON SYNDROMEC0032339
RTSC0032339
POIKILODERMA ATROPHICANS AND CATARACTC0032339
POLAND SYNDROMEC0032357
POLAND SYNDACTYLYC0032357
POLAND ANOMALYC0032357
Poland sequenceC0032357
POLAND SEQUENCEC0032357
PoliomyelitisC0032371
Polycystic ovariesC0032460
Polycystic ovaryC0032460
STEIN-LEVENTHAL SYNDROMEC0032460
PCOSC0032460
PCOC0032460
POLYCYSTIC OVARY SYNDROME 1C0032460
PCO1C0032460
PCOS1C0032460
PolycythemiaC0032461
POLYCYTHEMIA VERAC0032463
POLYCYTHEMIA RUBRA VERAC0032463
PRVC0032463
PVC0032463
ADENOMATOUS POLYPOSIS COLIC0032580
ADENOMA, PERIAMPULLARY, 2-BP DEL, CODON 1465C0032580
APC, 2-BP DEL, CODON 1465C0032580
PolyuriaC0032617
POPLITEAL CYSTC0032650
BAKER CYSTC0032650
PorphyriaC0032708
PRADER-WILLI SYNDROMEC0032897
PRADER-LABHART-WILLI SYNDROMEC0032897
PWSC0032897
TOXEMIA OF PREGNANCYC0032914
PREECLAMPSIA/ECLAMPSIA 1C0032914
PreeclampsiaC0032914
PEE1C0032914
PEEC0032914
PREG1C0032914
PREEXCITATION SYNDROMEC0032915
ProctitisC0033246
PROGERIAC0033300
HGPSC0033300
HUTCHINSON-GILFORD PROGERIA SYNDROMEC0033300
HUTCHINSON-GILFORD PROGERIA SYNDROMEC0033300
PrognathismC0033324
PrognathiaC0033324
PROLACTIN RELEASE-INHIBITING FACTORC0033373
PIFC0033373
ProlactinomaC0033375
ProstatitisC0033581
PROTEIN CC0033621
PROCC0033621
ENTEROPATHY, PROTEIN-LOSINGC0033680
Protein-losing enteropathyC0033680
ProteinuriaC0033687
PRUNE BELLY SYNDROMEC0033770
EAGLE-BARRETT SYNDROMEC0033770
ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY AND CRYPTORCHIDISMC0033770
PruritusC0033774
ItchingC0033774
PruritisC0033774
PseudoarthrosisC0033785
PseudoarthrosesC0033785
PSEUDO-HURLER POLYDYSTROPHYC0033788
MUCOLIPIDOSIS IIIC0033788
ML IIIAC0033788
MUCOLIPIDOSIS IIIAC0033788
MUCOLIPIDOSIS IIIAC0033788
ML IIIC0033788
Pseudobulbar palsyC0033790
Pseudobulbar paralysisC0033790
Pseudobulbar syndromeC0033790
PseudogliomaC0033800
PseudogoutC0033802
PseudohermaphroditismC0033804
PseudohypoparathyroidismC0033806
ALBRIGHT HEREDITARY OSTEODYSTROPHYC0033806
ALBRIGHT HEREDITARY OSTEODYSTROPHYC0033806
ALBRIGHT HEREDITARY OSTEODYSTROPHYC0033806
ALBRIGHT HEREDITARY OSTEODYSTROPHYC0033806
PSEUDOHYPOPARATHYROIDISM, TYPE IAC0033806
PSEUDOHYPOPARATHYROIDISM, TYPE IAC0033806
PSEUDOHYPOPARATHYROIDISM, TYPE IAC0033806
PSEUDOHYPOPARATHYROIDISM, TYPE IAC0033806
AHOC0033806
PHP1AC0033806
PHP IAC0033806
PSEUDOPSEUDOHYPOPARATHYROIDISMC0033835
PSEUDOPSEUDOHYPOPARATHYROIDISMC0033835
PPHPC0033835
PSEUDOTUMOR CEREBRIC0033845
INTRACRANIAL HYPERTENSION, IDIOPATHICC0033845
PSEUDOXANTHOMA ELASTICUMC0033847
PXEC0033847
PsoriasisC0033860
PsychosisC0033975
PterygiaC0033999
Delayed pubertyC0034012
Precocious pubertyC0034013
PRECOCIOUS PUBERTYC0034013
Pulmonary embolismC0034065
Pulmonary fibrosisC0034069
Cor pulmonaleC0034072
Pulmonary insufficiencyC0034088
Pulmonary valve stenosisC0034089
Pulmonic valve stenosisC0034089
PVODC0034091
PULMONARY VENOOCCLUSIVE DISEASEC0034091
PULMONARY VENOOCCLUSIVE DISEASEC0034091
PULMONARY VENOOCCLUSIVE DISEASEC0034091
PurpuraC0034150
Anaphylactoid purpuraC0034152
Thrombotic microangiopathyC0034155
PyelonephritisC0034186
Pyloric stenosisC0034194
PyodermaC0034212
PYRUVATE CARBOXYLASE DEFICIENCYC0034341
ATAXIA WITH LACTIC ACIDOSIS IIC0034341
PC DEFICIENCYC0034341
LEIGH NECROTIZING ENCEPHALOPATHY DUE TO PYRUVATE CARBOXYLASE DEFICIENCYC0034341
LEIGH SYNDROME DUE TO PYRUVATE CARBOXYLASE DEFICIENCYC0034341
ATAXIA WITH LACTIC ACIDOSIS IC0034345
PDH DEFICIENCYC0034345
PYRUVATE DEHYDROGENASE DEFICIENCYC0034345
PYRUVATE DECARBOXYLASE DEFICIENCYC0034345
ATAXIA, INTERMITTENT, WITH ABNORMAL PYRUVATE METABOLISMC0034345
ATAXIA, INTERMITTENT, WITH PYRUVATE DEHYDROGENASE, OR DECARBOXYLASE, DEFICIENCYC0034345
QuadriplegiaC0034372
TetraplegiaC0034372
RAYNAUD DISEASEC0034734
COLD FINGERS, HEREDITARYC0034734
HyperacusisC0034880
Rectal prolapseC0034888
Rectovaginal fistulaC0034895
REFLEX SYMPATHETIC DYSTROPHYC0034931
Babinski signC0034935
Extensor plantar responseC0034935
Extensor plantar responsesC0034935
Refractive errorC0034951
REFSUM DISEASEC0034960
HEREDOPATHIA ATACTICA POLYNEURITIFORMISC0034960
HMSN IVC0034960
HEREDITARY MOTOR AND SENSORY NEUROPATHY IVC0034960
HMSN4C0034960
PHYTANIC ACID OXIDASE DEFICIENCYC0034960
ONCOGENE RELC0035018
V-REL AVIAN RETICULOENDOTHELIOSIS VIRAL ONCOGENE HOMOLOGC0035018
RELC0035018
Recurrent feversC0035021
Renal artery stenosisC0035067
Renal failureC0035078
Renal ricketsC0035086
Respiratory insufficiencyC0035229
Respiratory paralysisC0035232
Diaphragmatic paralysisC0035232
Respiratory infectionsC0035243
Retention cystsC0035281
Retinal degenerationC0035304
RETINAL DETACHMENTC0035305
RETINAL DETACHMENTC0035305
Retinal detachmentC0035305
Detached retinaC0035305
RETINA, CONGENITAL NONATTACHMENT OFC0035305
RetinopathyC0035309
Retinal dysplasiaC0035313
Retinal hemorrhageC0035317
Retinal hemorrhagesC0035317
Retinal bleedingC0035317
Retinal neovascularizationC0035320
Retinal vascular proliferationC0035320
RETINITIS PIGMENTOSAC0035334
Retinitis pigmentosaC0035334
Pigmentary retinopathyC0035334
Tapetoretinal degenerationC0035334
CONE-ROD DYSTROPHYC0035334
Cone-rod dystrophyC0035334
CONE-ROD RETINAL DYSTROPHYC0035334
RETINAL CONE-ROD DYSTROPHYC0035334
RPC0035334
CORDC0035334
CRDC0035334
CONE-ROD DYSTROPHY 2C0035334
CRD2C0035334
RCRD2C0035334
CORD2C0035334
RETINOPATHY OF PREMATURITYC0035344
ROPC0035344
RetrognathiaC0035353
RETT SYNDROMEC0035372
RTSC0035372
RTTC0035372
AUTISM, DEMENTIA, ATAXIA, AND LOSS OF PURPOSEFUL HAND USEC0035372
RhabdomyolysisC0035410
RhabdomyosarcomaC0035412
RhinitisC0035455
Atrophic rhinitisC0035459
RicketsC0035579
Right aortic archC0035615
WARD-ROMANO SYNDROMEC0035828
ROMANO-WARD SYNDROMEC0035828
LONG QT SYNDROME 1C0035828
WRSC0035828
LQT1C0035828
VENTRICULAR FIBRILLATION WITH PROLONGED QT INTERVALC0035828
RWSC0035828
RUBINSTEIN-TAYBI SYNDROMEC0035934
BROAD THUMB-HALLUX SYNDROMEC0035934
RUBINSTEIN SYNDROMEC0035934
RSTSC0035934
BROAD THUMBS AND GREAT TOES, CHARACTERISTIC FACIES, AND MENTAL RETARDATIONC0035934
Saccadic eye movementsC0036019
SALDINO-NOONAN SYNDROMEC0036069
SHORT RIB-POLYDACTYLY SYNDROME, TYPE IC0036069
POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE IC0036069
SRPS, TYPE IC0036069
SALIVARY DUCT CALCULIC0036089
SUBMANDIBULAR DUCT CALCULIC0036089
PAROTID DUCT CALCULIC0036089
SANDHOFF DISEASEC0036161
GM2-GANGLIOSIDOSIS, TYPE IIC0036161
HEXOSAMINIDASES A AND B DEFICIENCYC0036161
SARCOIDOSISC0036202
BOECK SARCOIDC0036202
KAPOSI SARCOMAC0036220
MULTIPLE IDIOPATHIC PIGMENTED HEMANGIOSARCOMAC0036220
SCHEUERMANN DISEASEC0036310
SPINAL OSTEOCHONDROSISC0036310
SCHEUERMANN JUVENILE KYPHOSISC0036310
SCHIZOAFFECTIVE DISORDERC0036337
SchizophreniaC0036341
SCHIZOPHRENIAC0036341
SCZDC0036341
SCHWARTZ-JAMPEL SYNDROMEC0036391
CHONDRODYSTROPHIC MYOTONIAC0036391
SCHWARTZ-JAMPEL-ABERFELD SYNDROMEC0036391
SJSC0036391
SJA SYNDROMEC0036391
SJS1C0036391
SCHWARTZ-JAMPEL SYNDROME, TYPE 1C0036391
MYOTONIC MYOPATHY, DWARFISM, CHONDRODYSTROPHY, AND OCULAR AND FACIAL ABNORMALITIESC0036391
SCIMITAR SYNDROMEC0036400
TOTAL ANOMALOUS PULMONARY VENOUS RETURN 1C0036400
SCIMITAR ANOMALYC0036400
TAPVR1C0036400
ANOMALOUS PULMONARY VENOUS RETURNC0036400
APVRC0036400
ScoliosisC0036439
Visual field defectsC0036454
SCURVYC0036474
HYPOASCORBEMIAC0036474
VITAMIN C, INABILITY TO SYNTHESIZEC0036474
SEA-BLUE HISTIOCYTOSISC0036489
HISTIOCYTOSIS, SEA-BLUEC0036489
SEA-BLUE HISTIOCYTE DISEASEC0036489
Sebaceous gland tumorsC0036503
Seborrheic dermatitisC0036508
SeizuresC0036572
SeizureC0036572
Self-mutilationC0036601
Self mutilationC0036601
SeminomaC0036631
SEMINOMAC0036631
SeminomasC0036631
Sertoli cell adenomasC0036769
CALCIUM, SERUM LEVELS OFC0036785
Mental retardation, severeC0036857
Severe mental retardationC0036857
Short-gut syndromeC0036992
Shoulder dislocationC0037005
SHY-DRAGER SYNDROMEC0037019
HYPOTENSION, ORTHOSTATICC0037019
PAFC0037019
AUTONOMIC FAILURE, PROGRESSIVEC0037019
SialorrheaC0037036
GOITER, NONENDEMIC, SIMPLEC0037158
Sinoatrial blockC0037188
SinusitisC0037199
Situs inversusC0037221
SIVC0037221
SITUS INVERSUS VISCERUMC0037221
Situs inversus viscerumC0037221
SJOGREN-LARSSON SYNDROMEC0037231
SLSC0037231
FATTY ALCOHOL:NAD+ OXIDOREDUCTASE DEFICIENCYC0037231
ICHTHYOSIS, SPASTIC NEUROLOGIC DISORDER, AND OLIGOPHRENIAC0037231
FALDH DEFICIENCYC0037231
FATTY ALDEHYDE DEHYDROGENASE DEFICIENCYC0037231
Skin infectionsC0037278
Skin pigmentationC0037290
Skin ulcersC0037299
Cutaneous ulcersC0037299
SkullC0037303
Sleep apneaC0037315
Sleep disturbancesC0037317
SnoringC0037384
SomatostatinomaC0037661
Infantile spasmsC0037769
Infantile spasmC0037769
INFANTILE SPASMS, X-LINKEDC0037769
ISSXC0037769
WEST SYNDROME, X-LINKEDC0037769
INFANTILE SPASM SYNDROME, X-LINKEDC0037769
Spastic paraparesisC0037771
Spastic paraplegiaC0037772
STRUMPELL DISEASEC0037773
HMSN VC0037773
FSP1C0037773
HEREDITARY MOTOR AND SENSORY NEUROPATHY VC0037773
SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANTC0037773
FAMILIAL SPASTIC PARAPLEGIA, AUTOSOMAL DOMINANT, 1C0037773
PERONEAL MUSCULAR ATROPHY WITH PYRAMIDAL FEATURES, AUTOSOMAL DOMINANTC0037773
CHARCOT-MARIE-TOOTH DISEASE WITH PYRAMIDAL FEATURES, AUTOSOMAL DOMINANTC0037773
SPG3C0037773
CHARCOT-MARIE-TOOTH NEUROPATHY WITH PYRAMIDAL FEATURES, AUTOSOMAL DOMINANTC0037773
CMT WITH PYRAMIDAL FEATURESC0037773
HMSN5C0037773
SPG3AC0037773
Speech disorderC0037822
Speech defectC0037822
TESTICULAR TORSIONC0037856
TORSION OF TESTICULAR CORDC0037856
Epididymal cystC0037859
Epididymal cystsC0037859
Spinal cord compressionC0037926
MyelopathyC0037928
Spinal fusionC0037935
Spinal stenosisC0037944
Spinal stenosesC0037944
SpineC0037949
Spinocerebellar degenerationC0037952
SpleenC0037993
SplenomegalyC0038002
Ankylosing spondylitisC0038013
Spondylosis deformansC0038013
Spondyloepiphyseal dysplasiaC0038015
SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITAC0038015
SED CONGENITAC0038015
SEDCC0038015
SPONDYLOEPIPHYSEAL DYSPLASIA, CONGENITAL TYPEC0038015
SpondylolisthesisC0038016
SPONDYLOLISTHESISC0038016
SpondylolithesisC0038016
SpondylolysisC0038018
STAMMERINGC0038131
Status epilepticusC0038220
SteatorrheaC0038238
Stereotyped behaviorC0038271
Gastric ulcerC0038358
StomatitisC0038362
Aphthous stomatitisC0038363
Ulcerative stomatitisC0038367
StrabismusC0038379
SquintC0038379
Arterial stenosisC0038449
StridorC0038450
Cerebrovascular accidentC0038454
CEREBROVASCULAR ACCIDENTC0038454
CEREBRAL INFARCTIONC0038454
StrokeC0038454
StrokesC0038454
STURGE-WEBER SYNDROMEC0038505
PARKES WEBER SYNDROMEC0038505
PARKES WEBER SYNDROMEC0038505
SWSC0038505
PKWSC0038505
STUT1C0038506
STUTTERING, FAMILIAL PERSISTENT 1C0038506
PANENCEPHALITIS, SUBACUTE SCLEROSINGC0038522
SUBACUTE SCLEROSING PANENCEPHALITISC0038522
SSPEC0038522
Subarachnoid hemorrhageC0038525
NEUROKININ AC0038581
NEUROMEDIN LC0038581
NKNAC0038581
SUBSTANCE PC0038585
SUDDEN INFANT DEATH SYNDROMEC0038644
SUDDEN INFANT DEATH SYNDROMEC0038644
SUDDEN INFANT DEATH SYNDROMEC0038644
SIDSC0038644
STEELE-RICHARDSON-OLSZEWSKI SYNDROMEC0038868
PSPC0038868
PSNP1C0038868
SUPRANUCLEAR PALSY, PROGRESSIVE, 1C0038868
GUSTATORY SWEATINGC0038994
FREY SYNDROMEC0038994
HYPERHIDROSIS, GUSTATORYC0038994
GLANZMANN THROMBASTHENIAC0040015
Glanzmann thrombastheniaC0040015
GTC0040015
THROMBASTHENIA OF GLANZMANN AND NAEGELIC0040015
GLYCOPROTEIN COMPLEX IIb-IIIa, DEFICIENCY OFC0040015
PLATELET FIBRINOGEN RECEPTOR, DEFICIENCY OFC0040015
PLATELET GLYCOPROTEIN IIb-IIIa DEFICIENCYC0040015
GP IIb-IIIa COMPLEX, DEFICIENCY OFC0040015
THROMBOANGIITIS OBLITERANSC0040021
BUERGER DISEASEC0040021
THROMBOCYTHEMIA, ESSENTIALC0040028
THROMBOCYTHEMIA, ESSENTIALC0040028
THROMBOCYTOSIS, PRIMARYC0040028
THROMBOCYTOSIS, AUTOSOMAL DOMINANTC0040028
ThrombocytopeniaC0040034
ThromboembolismC0040038
ThrombosisC0040053
ThymomaC0040100
Thyroid diseaseC0040128
ThyroiditisC0040147
THYROTOXICOSISC0040156
TicsC0040188
TinnitusC0040264
Fissured tongueC0040412
LINGUA PLICATAC0040412
Scrotal tongueC0040412
SCROTAL TONGUEC0040412
TeethC0040426
ECTOPIC ERUPTION OF TEETHC0040427
TOOTH MALFORMATIONC0040427
Tooth crowdingC0040433
Teeth crowdingC0040433
Crowded teethC0040433
Tooth discolorationC0040434
Impacted teethC0040456
Supernumerary teethC0040457
TEETH, SUPERNUMERARYC0040457
Extra teethC0040457
Unerupted teethC0040458
Torsades de pointesC0040479
Torsade de pointesC0040479
TorticollisC0040485
TORTICOLLISC0040485
RetrocollisC0040485
GILLES DE LA TOURETTE SYNDROMEC0040517
TOURETTE DISORDERC0040517
TOURETTE SYNDROMEC0040517
TSC0040517
GTSC0040517
Tracheal stenosisC0040583
TRACHEOBRONCHOMEGALYC0040587
Tracheoesophageal fistulaC0040588
TRANSCOBALAMIN IIC0040640
TC IIC0040640
TCN2C0040640
VITAMIN B12-BINDING PROTEINC0040642
Transposition of great vesselsC0040761
Transposition of the great arteriesC0040761
TremorC0040822
TremorsC0040822
Tricuspid insufficiencyC0040961
Tricuspid regurgitationC0040961
Tricuspid valve prolapseC0040962
Tricuspid stenosisC0040963
TRIGEMINAL NEURALGIAC0040997
Trigeminal neuralgiaC0040997
TIC DOULOUREUXC0040997
TrismusC0041105
Truncus arteriosusC0041206
TRUNCUS ARTERIOSUS COMMUNISC0041207
TUBEROUS SCLEROSISC0041341
EPILOIAC0041341
TSC0041341
TUBEROSE SCLEROSISC0041341
TSCC0041341
TUBEROUS SCLEROSIS COMPLEXC0041341
Tubulointerstitial nephritisC0041349
MALE TURNER SYNDROMEC0041409
UlcerationC0041582
Loss of consciousnessC0041657
Low weightC0041667
Attention deficit disorderC0041671
Attention deficitsC0041671
UNIPOLAR DEPRESSIONC0041696
ErythemaC0041834
Upper respiratory tract infectionsC0041912
UretersC0041951
Ureteral obstructionC0041956
UreteroceleC0041960
URETEROCELEC0041960
SyncopeC0039070
SyndactylyC0039075
syndactylyC0039075
SymphalangismC0039075
SARCOMA, SYNOVIALC0039101
SyringomyeliaC0039144
TachycardiaC0039231
Rapid heart beatC0039231
TAKAYASU ARTERITISC0039263
PULSELESS DISEASEC0039263
YOUNG FEMALE ARTERITISC0039263
Pes cavusC0039273
TANGIER DISEASEC0039292
ANALPHALIPOPROTEINEMIAC0039292
HIGH DENSITY LIPOPROTEIN DEFICIENCY, TANGIER TYPEC0039292
TGDC0039292
HDLDT1C0039292
HIGH DENSITY LIPOPROTEIN DEFICIENCY, TYPE 1C0039292
CRYSTALLIN, TAUC0039346
TAY-SACHS DISEASEC0039373
GM2-GANGLIOSIDOSIS, TYPE IC0039373
TSDC0039373
HEXOSAMINIDASE A DEFICIENCYC0039373
B VARIANT GM2-GANGLIOSIDOSISC0039373
HEXA DEFICIENCYC0039373
OSLER-RENDU-WEBER DISEASEC0039445
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBERC0039445
HHTC0039445
HHT1C0039445
ORW DISEASEC0039445
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1C0039445
TelangiectasesC0039446
TelangiectasiaC0039446
GIANT CELL ARTERITISC0039483
POLYMYALGIA RHEUMATICAC0039483
GCAC0039483
TenosynovitisC0039520
ANDROGEN INSENSITIVITY SYNDROMEC0039585
TFMC0039585
TESTICULAR FEMINIZATION SYNDROMEC0039585
ANDROGEN RECEPTOR DEFICIENCYC0039585
DIHYDROTESTOSTERONE RECEPTOR DEFICIENCYC0039585
AISC0039585
DHTR DEFICIENCYC0039585
AR DEFICIENCYC0039585
TESTICULAR TUMORSC0039590
TetanyC0039621
Tetralogy of FallotC0039685
TETRALOGY OF FALLOTC0039685
Tetralogy of fallotC0039685
TOFC0039685
THALASSEMIASC0039730
LEANNESSC0039870
Urethral stricturesC0041974
Urethral stenosisC0041974
Urinary incontinenceC0042024
Bladder incontinenceC0042024
IncontinenceC0042024
Urinary tract infectionsC0042029
GENITOURINARYC0042066
GUC0042066
UrticariaC0042109
URTICARIA PIGMENTOSAC0042111
Urticaria pigmentosaC0042111
Uterine fibroidsC0042133
LEIOMYOMA, UTERINEC0042133
Uterine leiomyomataC0042133
ULC0042133
Uterine hemorrhageC0042134
Uterine prolapseC0042140
UveitisC0042164
Anterior uveitisC0042165
VaricoceleC0042341
VARICOSE VEINSC0042345
Varicose veinsC0042345
VasculitisC0042384
PHM27C0042395
Velopharyngeal insufficiencyC0042454
VELOPHARYNGEAL INSUFFICIENCYC0042454
Velopharyngeal incompetenceC0042454
VELOPHARYNGEAL INCOMPETENCEC0042454
PALATOPHARYNGEAL INCOMPETENCEC0042454
Palatopharyngeal incompetenceC0042454
VPIC0042454
Venous thrombosisC0042487
Ventricular fibrillationC0042510
VertigoC0042571
Vesicoureteric refluxC0042580
Vesicoureteral refluxC0042580
VURC0042580
VUR1C0042580
VESICOURETERAL REFLUX 1C0042580
Vesicovaginal fistulaC0042582
Viral hepatitisC0042721
VirilizationC0042755
Visual impairmentC0042798
Decreased visionC0042798
Visual lossC0042798
Impaired visionC0042798
Poor visionC0042798
Reduced visionC0042798
Visual defectsC0042798
VitiligoC0042900
VITILIGOC0042900
VTLGC0042900
Vitreous detachmentC0042907
Vitreous hemorrhageC0042909
Vocal cord paralysisC0042928
VOICEC0042939
VolvulusC0042961
VomitingC0042963
Von Willebrand diseaseC0042974
WEGENER GRANULOMATOSISC0043092
WGC0043092
Weight lossC0043096
Decreased weightC0043096
Weight loss, progressiveC0043096
WeightC0043100
WERDNIG-HOFFMANN DISEASEC0043116
MUSCULAR ATROPHY, INFANTILEC0043116
SPINAL MUSCULAR ATROPHY, TYPE IC0043116
SMA1C0043116
SMA IC0043116
SMA, INFANTILE ACUTE FORMC0043116
IDIOPATHIC THROMBOCYTOPENIC PURPURAC0043117
Idiopathic thrombocytopenic purpuraC0043117
ITPC0043117
THROMBOCYTOPENIC PURPURA, AUTOIMMUNEC0043117
Idiopathic thrombocytopenic purpura (ITP)C0043117
WERNER SYNDROMEC0043119
WRNC0043119
WISKOTT-ALDRICH SYNDROMEC0043194
WISKOTT-ALDRICH SYNDROMEC0043194
ALDRICH SYNDROMEC0043194
ECZEMA-THROMBOCYTOPENIA-IMMUNODEFICIENCY SYNDROMEC0043194
WASC0043194
IMD2C0043194
IMMUNODEFICIENCY 2C0043194
Wolff-Parkinson-White syndromeC0043202
WOLFF-PARKINSON-WHITE SYNDROMEC0043202
WOLFF-PARKINSON-WHITE SYNDROMEC0043202
WPW SYNDROMEC0043202
Wolf-Parkinson-White syndromeC0043202
DIDMOADC0043207
DIABETES INSIPIDUS AND MELLITUS WITH OPTIC ATROPHY AND DEAFNESSC0043207
WFSC0043207
WFS1C0043207
WOLFRAM SYNDROME 1C0043207
XerostomiaC0043352
Dry mouthC0043352
ZELLWEGER SYNDROMEC0043459
ZELLWEGER SYNDROMEC0043459
CEREBROHEPATORENAL SYNDROMEC0043459
ZSC0043459
CHR SYNDROMEC0043459
ZWSC0043459
Zollinger-Ellison syndromeC0043515
ZOLLINGER-ELLISON SYNDROMEC0043515
ZESC0043515
11-@BETA-HSDC0044707
HMG-CoA LYASEC0047421
3-@HYDROXY-3-METHYLGLUTARYL-CoA LYASEC0047421
HMGCLC0047421
ACTIVIN BC0052851
ESTERASE BC0054741
ESBC0054741
CHONDROCALCINC0055588
CHONDRONECTINC0055595
CMO IC0056364
CMO IIC0056365
CRYPTDINC0056548
CYTOCHROME b5 REDUCTASEC0056921
CYB5RC0056921
B5RC0056921
EGASYNC0058967
ES22C0058967
ESTERASE 22C0058967
FUMARYLACETOACETASEC0060828
FUMARYLACETOACETATE HYDROLASEC0060828
FAHC0060828
GLIA MATURATION FACTORC0061308
GMFC0061308
GLUCAGON-LIKE PEPTIDE 1C0061355
GLP1C0061355
GLYCOCALICINC0061621
GOODPASTURE ANTIGENC0061817
TUMSTATINC0061817
H-Y ANTIGEN RECEPTORC0062060
HISTATIN 5C0062743
HTN5C0062743
IMIDAZOLINE RECEPTORC0063390
INTER-ALPHA-TRYPSIN INHIBITORC0063693
ITIC0063693
KATACALCINC0064251
KETOHEXOKINASEC0064317
KHKC0064317
LIPOPROTEIN(a)C0065058
Lp(a)C0065058
MICROPLASMINC0066522
NEUROPEPTIDE KC0068617
GLYCINAMIDE PHOSPHORIBOSYL SYNTHETASEC0070920
GLYCINAMIDE RIBONUCLEOTIDE SYNTHETASEC0070920
PHOSPHORIBOSYLGLYCINAMIDE SYNTHETASEC0070920
GARSC0070920
PRGSC0070920
AIRSC0070924
PHOSPHORIBOSYLAMINOIMIDAZOLE SYNTHETASEC0070924
PAISC0070924
PHOSPHORIBOSYLGLYCINAMIDE FORMYLTRANSFERASEC0070929
GLYCINAMIDE RIBONUCLEOTIDE TRANSFORMYLASEC0070929
GARTFC0070929
PGFTC0070929
PREPROACROSINC0071905
PREPROENDOTHELIN 1C0071923
PROACROSINC0072014
PROCHYMOSINC0072250
S-FORMYLGLUTATHIONE HYDROLASEC0073873
FGHC0073873
SAPOSIN AC0074042
SAPOSIN DC0074043
GROWTH HORMONE-BINDING PROTEINC0074898
GHBPC0074898
TELOKINC0076072
TFIIDC0076919
TRANSCRIPTION FACTOR IIDC0076919
TF2DC0076919
Ocular albinismC0078917
Arachnoid cystsC0078981
Arachnoid cystC0078981
ArhinencephalyC0078982
ARHINENCEPHALYC0078982
ArrhinencephalyC0078982
BRANCHIAL CLEFT ANOMALIESC0079037
EPIDERMOLYSIS BULLOSA DYSTROPHICA, DOMINANTC0079136
COCKAYNE-TOURAINE TYPE EPIDERMOLYSIS BULLOSAC0079136
EPIDERMOLYSIS BULLOSA DYSTROPHICA, COCKAYNE-TOURAINE TYPEC0079136
EPIDERMOLYSIS BULLOSA DYSTROPHICA, COCKAYNE-TOURAINE TYPEC0079136
EBS, ACRAL FORMC0079136
EBDCTC0079136
WEBER-COCKAYNE TYPE EPIDERMOLYSIS BULLOSA SIMPLEXC0079136
EPIDERMOLYSIS BULLOSA OF HANDS AND FEETC0079136
BULLOUS CONGENITAL ICHTHYOSIFORM ERYTHRODERMAC0079153
EPIDERMOLYTIC HYPERKERATOSISC0079153
EPIDERMOLYTIC HYPERKERATOSISC0079153
BULLOUS ICHTHYOSIFORM ERYTHRODERMAC0079153
BIEC0079153
EHKC0079153
BCIEC0079153
BULLOUS ERYTHRODERMA ICHTHYOSIFORMIS CONGENITA OF BROCQC0079153
Nonbullous congenital ichthyosiform erythrodermaC0079154
Ichthyosis, congenitalC0079154
Collodion babyC0079154
Desmoid tumorC0079218
Epidermolysis bullosa simplexC0079298
FIBROBLAST GROWTH FACTOR, ACIDICC0079349
FGFAC0079349
ENDOTHELIAL CELL GROWTH FACTOR, ALPHAC0079349
ENDOTHELIAL CELL GROWTH FACTOR, BETAC0079349
ECGFAC0079349
ECGFBC0079349
Torticollis, congenitalC0079352
COLORECTAL CANCER-RELATED CHROMOSOME SEQUENCE 18C0079414
DELETED IN COLORECTAL CARCINOMAC0079414
CRC18C0079414
DCCC0079414
CRCR1C0079414
P53C0079419
TP53C0079419
TUMOR PROTEIN p53C0079419
TRP53C0079419
TRANSFORMATION-RELATED PROTEIN 53C0079419
Tumor suppressor geneC0079427
HRASC0079471
HRAS1C0079471
HARVEY MURINE SARCOMA VIRUS ONCOGENEC0079471
RASH1C0079471
V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOGC0079471
TRANSFORMATION GENE: ONCOGENE HAMSVC0079471
EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPEC0079474
RDEBC0079474
EBR1C0079474
HERMANSKY-PUDLAK SYNDROMEC0079504
HPSC0079504
ALBINISM WITH HEMORRHAGIC DIATHESIS AND PIGMENTED RETICULOENDOTHELIAL CELLSC0079504
HoloprosencephalyC0079541
HOLOPROSENCEPHALYC0079541
HOLOPROSENCEPHALY, FAMILIAL ALOBARC0079541
HPECC0079541
HPE, FAMILIALC0079541
Congenital ichthyosiform erythrodermaC0079583
ICHTHYOSIS VULGARISC0079584
ICHTHYOSIS SIMPLEXC0079584
KLEIN-WAARDENBURG SYNDROMEC0079661
WAARDENBURG SYNDROME, TYPE IIIC0079661
WS3C0079661
WAARDENBURG SYNDROME WITH UPPER LIMB ANOMALIESC0079661
EPIDERMOLYSIS BULLOSA LETALISC0079683
EPILIGRINC0079683
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ-PEARSON TYPEC0079683
HERLITZ-PEARSON TYPE EPIDERMOLYSIS BULLOSAC0079683
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPEC0079683
B-cell lymphomaC0079731
LymphosarcomaC0079734
LYMPHOMA, T-CELLC0079772
LYMPHOMA, T-CELLC0079772
OligohydramniosC0079924
p105-RbC0079962
PIEBALDISMC0080024
Cutaneous albinismC0080024
PBTC0080024
PIEBALD TRAITC0080024
CHROMOSTATINC0082024
INTERFERON-STIMULATED GENE FACTOR 3C0083029
ISGF3C0083029
NEUROFIBROMINC0083725
PACAP27C0084057
SWEET SYNDROMEC0085077
SSC0085077
NEUTROPHILIC DERMATOSIS, ACUTE FEBRILEC0085077
GOMM-BUTTON DISEASEC0085077
AFNDC0085077
OVARIAN HYPERSTIMULATION SYNDROMEC0085083
OHSSC0085083
OVARIAN HYPERSTIMULATION SYNDROME, FAMILIAL GESTATIONAL SPONTANEOUSC0085083
PEMPHIGUS, BENIGN FAMILIALC0085106
HAILEY-HAILEY DISEASEC0085106
BCPMC0085106
HHDC0085106
BENIGN CHRONIC PEMPHIGUSC0085106
Severe combined immunodeficiencyC0085110
NEUROFIBROMATOSISC0085113
VON RECKLINGHAUSEN DISEASEC0085113
NEUROFIBROMATOSIS, TYPE IC0085113
NF1C0085113
MERLINC0085114
NF2C0085114
NEUROFIBROMIN 2C0085114
SCHWANNOMINC0085114
SCHC0085114
Foot ulcerationsC0085119
Beta-galactosidase-1 deficiencyC0085131
SLY SYNDROMEC0085132
BETA-GLUCURONIDASE DEFICIENCYC0085132
GUSB DEFICIENCYC0085132
MUCOPOLYSACCHARIDOSIS TYPE VIIC0085132
MPS VIIC0085132
MPS7C0085132
SEASONAL AFFECTIVE DISORDERC0085159
SADC0085159
DIABETES, GESTATIONALC0085207
Gestational diabetesC0085207
Premature ovarian failureC0085215
OVARIAN FAILURE, PREMATUREC0085215
PREMATURE OVARIAN FAILURE 1C0085215
POFC0085215
PREMATURE OVARIAN FAILURE, X-LINKEDC0085215
POFXC0085215
POF1C0085215
HYPERGONADOTROPIC OVARIAN FAILURE, X-LINKEDC0085215
RECOMBINATION-ACTIVATING GENE 1C0085218
RAG1C0085218
Cerebral amyloid angiopathyC0085220
CEREBRAL AMYLOID ANGIOPATHYC0085220
AMYLOIDOSIS VIC0085220
CAAC0085220
CEREBRAL HEMORRHAGE, FAMILIALC0085220
GAMMA-TRACE, DEFECT IN METABOLISM OFC0085220
CYSTATIN C, DEFECT IN METABOLISM OFC0085220
PROTEUS SYNDROMEC0085261
GIGANTISM, PARTIAL, OF HANDS AND FEET, NEVI, HEMIHYPERTROPHY, AND MACROCEPHALYC0085261
Self injurious behaviorC0085271
Self-injurious behaviorC0085271
Self-injurious behaviorsC0085271
Self-abusive behaviorC0085271
ANTIPHOSPHOLIPID SYNDROMEC0085278
ANTIPHOSPHOLIPID SYNDROME, FAMILIALC0085278
LUPUS ANTICOAGULANT, FAMILIALC0085278
ALAGILLE SYNDROMEC0085280
ARTERIOHEPATIC DYSPLASIAC0085280
CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSISC0085280
ALAGILLE-WATSON SYNDROMEC0085280
AWSC0085280
HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATICC0085280
AHDC0085280
ALGSC0085280
STIFF-PERSON SYNDROMEC0085292
STIFF-MAN SYNDROMEC0085292
SPSC0085292
STIFF-TRUNK SYNDROMEC0085292
Sudden cardiac deathC0085298
SUDDEN CARDIAC DEATHC0085298
SCDC0085298
Neurofibrillary tanglesC0085400
AngiodysplasiaC0085411
POLYCYSTIC KIDNEY DISEASE, ADULTC0085413
APKDC0085413
Epilepsia partialis continuaC0085543
POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVEC0085548
ARPKDC0085548
POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE IC0085548
PKD3, FORMERLYC0085548
POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1C0085548
PKHD1C0085548
Hyperchloremic acidosisC0085569
Hypokalemic alkalosisC0085570
Microcytic anemiaC0085576
ANEMIA, MICROCYTICC0085576
PSEUDO-IRON-DEFICIENCY ANEMIAC0085576
IRON-HANDLING DISORDER, HEREDITARYC0085576
HYPERTENSION, ESSENTIALC0085580
EHTC0085580
Restrictive lung diseaseC0085581
ChoreoathetosisC0085583
EncephalopathyC0085584
PolydipsiaC0085602
PolydypsiaC0085602
Liver failureC0085605
Hepatic failureC0085605
Urinary urgencyC0085606
Sinus bradycardiaC0085610
Atrial arrhythmiasC0085611
Ventricular arrhythmiaC0085612
Right bundle branch blockC0085615
AkinesiaC0085623
BurningC0085624
AgitationC0085631
Psychomotor agitationC0085631
RestlessnessC0085631
ApathyC0085632
IndifferenceC0085632
Mood swingsC0085633
Emotional labilityC0085633
Emotional instabilityC0085633
Mood changesC0085633
Labile moodC0085633
PhotophobiaC0085636
Oculogyric crisesC0085637
FallsC0085639
Edema, peripheralC0085649
Pyoderma gangrenosumC0085652
Pityriasis albaC0085657
OnycholysisC0085661
Capillary hemangiomasC0085666
Acute leukemiasC0085669
Increased chloride levelsC0085679
HypochloremiaC0085680
HyperphosphatemiaC0085681
HypophosphatemiaC0085682
Foot dropC0085684
Chronic gastritisC0085695
Chronic pyelonephritisC0085697
MonocytosisC0085702
Aganglionosis of colonC0085758
PULMONARY FIBROSIS, IDIOPATHICC0085786
HAMMAN-RICH DISEASEC0085786
FIBROSING ALVEOLITIS, CRYPTOGENICC0085786
IDIOPATHIC PULMONARY FIBROSIS, FAMILIALC0085786
FIBROCYSTIC PULMONARY DYSPLASIAC0085786
ACTIVATOR PROTEIN 1C0085828
AP1C0085828
ENHANCER-BINDING PROTEIN AP1C0085828
AUTOIMMUNE POLYGLANDULAR SYNDROME, TYPE IC0085859
POLYGLANDULAR AUTOIMMUNE SYNDROME, TYPE IC0085859
AUTOIMMUNE POLYENDOCRINOPATHY-CANDIDIASIS-ECTODERMAL DYSTROPHYC0085859
HYPOADRENOCORTICISM WITH HYPOPARATHYROIDISM AND SUPERFICIAL MONILIASISC0085859
PGA IC0085859
APS IC0085859
APS1C0085859
AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE IC0085859
APECEDC0085859
POLYGLANDULAR AUTOIMMUNE SYNDROME, TYPE IIC0085860
SCHMIDT SYNDROMEC0085860
DIABETES MELLITUS, ADDISON DISEASE, MYXEDEMAC0085860
APS IIC0085860
APS2C0085860
AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE IIC0085860
POLYENDOCRINE AUTOIMMUNE SYNDROME, TYPE IIC0085860
PGA IIC0085860
MOLECULAR GENETICSC0086345
HURLER-SCHEIE SYNDROMEC0086431
MUCOPOLYSACCHARIDOSIS TYPE IH/SC0086431
Joint hypermobilityC0086437
Joint laxityC0086437
HypogammaglobulinemiaC0086438
HypokinesiaC0086439
KININOGENC0086509
KNGC0086509
CataractC0086543
cataractC0086543
CataractsC0086543
Liver dysfunctionC0086565
MUCOPOLYSACCHARIDOSIS TYPE IIIAC0086647
HEPARAN SULFATE SULFATASE DEFICIENCYC0086647
SANFILIPPO SYNDROME AC0086647
MPS3AC0086647
MPS IIIAC0086647
SULFAMIDASE DEFICIENCYC0086647
MUCOPOLYSACCHARIDOSIS TYPE IIIBC0086648
N-ACETYL-ALPHA-D-GLUCOSAMINIDASE DEFICIENCYC0086648
SANFILIPPO SYNDROME BC0086648
NAGLU DEFICIENCYC0086648
MPS IIIBC0086648
MPS3BC0086648
SANFILIPPO SYNDROME CC0086649
MUCOPOLYSACCHARIDOSIS TYPE IIICC0086649
MPS3CC0086649
MPS IIICC0086649
ACETYL-CoA:ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE DEFICIENCYC0086649
N-ACETYLGLUCOSAMINE-6-SULFATASE DEFICIENCYC0086650
SANFILIPPO SYNDROME DC0086650
MUCOPOLYSACCHARIDOSIS TYPE IIIDC0086650
MPS IIIDC0086650
MUCOPOLYSACCHARIDOSIS TYPE IVBC0086652
MORQUIO SYNDROME BC0086652
MPS IVBC0086652
MPS4BC0086652
ONCOGENE MYCC0086661
PROTOONCOGENE HOMOLOGOUS TO MYELOCYTOMATOSIS VIRUSC0086661
AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOGC0086661
MYCC0086661
V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOGC0086661
Panic attacksC0086769
HURLER SYNDROMEC0086795
HURLER SYNDROMEC0086795
Dysostosis multiplexC0086795
MUCOPOLYSACCHARIDOSIS TYPE IHC0086795
Trichilemmal cystsC0086809
SICCA SYNDROMEC0086981
SJOGREN SYNDROMEC0086981
Spinocerebellar ataxiaC0087012
FOSC0087140
ONCOGENE FOSC0087140
V-FOS FBJ MURINE OSTEOSARCOMA VIRAL ONCOGENE HOMOLOGC0087140
FBJ OSTEOSARCOMA VIRUSC0087140
ACTIVIN AC0100748
APOB48C0103839
BETA-GALACTOSIDASE PROTECTIVE PROTEINC0108471
PPGBC0108471
N-ACYLSPHINGOSINE AMIDOHYDROLASEC0109060
ASAHC0109060
ACYLASE, COBALT-ACTIVATEDC0110356
DENTIN PHOSPHOPHORYNC0112983
DESMOPLAKIN IC0113219
DSPIC0113219
DESMOPLAKIN IIC0113220
DSPIIC0113220
HUMAN NEUTROPHIL PEPTIDE 2C0122159
DEFENSIN, ALPHA, 2C0122159
DEFA2C0122159
HNP2C0122159
NEUTROPHIL-SPECIFIC ANTIGEN NA2C0132323
NFKB p50C0132348
PANCREASTATINC0135194
PROFILAGGRINC0138524
Spina bifida occultaC0080174
spina bifida occultaC0080174
SPINA BIFIDAC0080178
Spina bifidaC0080178
Spinal dysrhaphiaC0080178
Tooth lossC0080233
Loss of teethC0080233
Missing teethC0080233
Urinary retentionC0080274
ONCOGENE SRCC0080298
SRC ONCOGENEC0080298
AVIAN SARCOMA VIRUSC0080298
ASVC0080298
SRCC0080298
PROTOONCOGENE SRCC0080298
V-SRC AVIAN SARCOMA (SCHMIDT-RUPPIN A-2) VIRAL ONCOGENEC0080298
HEPATITIS B VIRUS ACTIVATED PROTEINC0140280
HBV-ACTIVATED PROTEINC0140280
RAR-EPSILONC0140280
HAPC0140280
SAPOSIN CC0141547
SAP2C0141547
SPHINGOLIPID ACTIVATOR PROTEIN 2C0141547
SAPOSIN BC0143247
SPHINGOLIPID ACTIVATOR PROTEIN 1C0143247
SAP1C0143247
Acute sinusitisC0149512
Chronic sinusitisC0149516
Chronic pancreatitisC0149521
HEART BLOCK, CONGENITALC0149530
Bicuspid aortic valveC0149630
AORTIC VALVE, BICUSPIDC0149630
BICUSPID AORTIC VALVEC0149630
BAVC0149630
Cervical myelopathyC0149645
ClubbingC0149651
Food intoleranceC0149696
Left ventricular hypertrophyC0149721
Lower respiratory tract infectionsC0149725
Muscle tearsC0149732
Neuropathic jointsC0149739
Oral ulcersC0149745
Spontaneous pneumothoraxC0149781
Deep vein thrombosisC0149871
Deep venous thrombosisC0149871
Encephalopathy, hypoglycemicC0149877
SLIPPED FEMORAL CAPITAL EPIPHYSESC0149887
Slipped capital femoral epiphysesC0149887
Proximal femoral epiphysiolysisC0149887
EPIPHYSIOLYSIS CAPITIS FEMORISC0149887
Secondary glaucomaC0149893
HUMORAL HYPERCALCEMIA OF MALIGNANCYC0149911
HHMC0149911
SMALL CELL CANCER OF THE LUNGC0149925
SCLCC0149925
SCLC1C0149925
SCCLC0149925
MigraineC0149931
MIGRAINEC0149931
Migraine headacheC0149931
MAC0149931
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1C0149931
MGR1C0149931
MGAUC0149931
OVARIAN FIBROMATAC0149951
Ovarian fibromataC0149951
PANCREAS, ANNULARC0149955
Annular pancreasC0149955
Complex partial seizuresC0149958
PHENYTOIN TOXICITYC0149969
Radial head subluxationC0149977
Elbow dislocationsC0149977
Elbow dislocationC0149977
Dislocations of the elbowsC0149977
Urge incontinenceC0150045
Impaired social interactionC0150080
Impaired social interactionsC0150080
Nail pittingC0150993
Pitted nailsC0150993
Nail pitsC0150993
Periorbital edemaC0151205
Atrial myxomaC0151241
Genital ulcersC0151281
Chronic headachesC0151293
Cranial nerve palsiesC0151311
Cranial nerve paralysisC0151311
Sensory neuropathyC0151313
Peripheral sensory neuropathyC0151313
Rheumatoid factor positiveC0151379
Adrenal crisisC0151467
Thyroid adenomaC0151468
Increased aldosteroneC0151475
Antinuclear antibody positiveC0151480
Skin atrophyC0151514
Atrophic skinC0151514
THYROID HYPOPLASIAC0151516
Complete heart blockC0151517
Premature birthC0151526
Premature deliveryC0151526
Preterm deliveryC0151526
Increased bleeding timeC0151529
Prolonged bleeding timeC0151529
Bronchial stenosisC0151536
Gastrointestinal carcinomaC0151544
Cogwheel rigidityC0151564
Decreased corneal reflexC0151572
Increased creatine kinaseC0151576
Increased creatinineC0151578
Bloody diarrheaC0151594
Facial swellingC0151602
Generalized edemaC0151603
AnasarcaC0151603
Scrotal edemaC0151609
Abnormal EEGC0151611
EEG abnormalitiesC0151611
Premature epiphyseal closureC0151628
Elevated erythrocyte sedimentation rateC0151632
Raised ESRC0151632
FANCONI-LIKE SYNDROMEC0151638
Decreased fertility in femalesC0151639
Myocardial fibrosisC0151654
Growth retardationC0151686
Retarded growthC0151686
Decreased HDLC0151691
Decreased HDL cholesterolC0151691
Low HDL-cholesterolC0151691
Delayed wound healingC0151692
Intracranial hemorrhageC0151699
Intracranial bleedC0151699
HypocholesterolemiaC0151718
HYPOGONADISM, MALEC0151721
HYPOGONADISM, MALEC0151721
HypomagnesemiaC0151723
Increased intracranial pressureC0151740
Myocardial ischemiaC0151744
Ischemic heart diseaseC0151744
Renal tubular dysfunctionC0151747
Abnormal liver function testsC0151766
Bone marrow hypoplasiaC0151773
MELANOMA, MALIGNANTC0151779
FAMILIAL ATYPICAL MOLE-MALIGNANT MELANOMA SYNDROMEC0151779
MELANOMA, CUTANEOUS MALIGNANTC0151779
MLMC0151779
CMMC0151779
MELANOMA, FAMILIALC0151779
DNSC0151779
DYSPLASTIC NEVUS SYNDROME, HEREDITARYC0151779
FAMMMC0151779
Muscle weaknessC0151786
Muscular weaknessC0151786
Hepatic necrosisC0151798
Liver necrosisC0151798
Hepatocellular necrosisC0151798
Subcutaneous nodulesC0151811
OpisthotonusC0151818
OpisthotonosC0151818
Bone painC0151825
Increased alkaline phosphataseC0151849
Elevated alkaline phosphataseC0151849
Platelet abnormalitiesC0151854
Prolonged prothrombin timeC0151872
Purpuric rashesC0151882
HyporeflexiaC0151888
HyperreflexiaC0151889
HYPERREFLEXIAC0151889
Increased deep tendon reflexesC0151889
HRXC0151889
Retinal pigmentationC0151892
Increased serum ironC0151900
Increased alanine aminotransferaseC0151905
Dry skinC0151908
Hypocalcemic tetanyC0151940
Arterial thrombosisC0151942
Cerebral venous thrombosisC0151945
Cerebral vein thrombosisC0151945
Lung adenocarcinomaC0152013
ADENOCARCINOMA OF LUNGC0152013
Pancreas atrophyC0152014
Esophageal carcinomaC0152018
ESOPHAGEAL CANCERC0152018
GastroparesisC0152020
Congenital heart diseaseC0152021
PolyneuropathyC0152025
Joint swellingC0152031
HesitancyC0152032
IMMUNOLOGYC0152036
NEZELOF SYNDROMEC0152094
EDWARDS SYNDROMEC0152096
Hypoplastic left heart syndromeC0152101
HYPOPLASTIC LEFT HEART SYNDROMEC0152101
Hypoplastic left heartC0152101
MUSCULAR ATROPHY, JUVENILEC0152109
KUGELBERG-WELANDER SYNDROMEC0152109
SPINAL MUSCULAR ATROPHY, TYPE IIIC0152109
SPINAL MUSCULAR ATROPHY, TYPE IIIC0152109
SPINAL MUSCULAR ATROPHY, TYPE IIIC0152109
SPINAL MUSCULAR ATROPHY, TYPE IIIC0152109
SPINAL MUSCULAR ATROPHY, TYPE IIIC0152109
SPINAL MUSCULAR ATROPHY, TYPE IIIC0152109
SMA3C0152109
SMA IIIC0152109
SPINAL MUSCULAR ATROPHY, MILD CHILDHOOD AND ADOLESCENT FORMC0152109
KWSC0152109
Orofacial dyskinesiaC0152115
Orofacial dyskinesiasC0152115
CVSC0152164
CYCLIC VOMITING SYNDROMEC0152164
CYCLIC VOMITING SYNDROMEC0152164
Persistent vomitingC0152165
PULMONARY HYPERTENSION, PRIMARYC0152171
PHTC0152171
PPH1C0152171
Central scotomaC0152191
Central scotomataC0152191
Central vision lossC0152191
EsophoriaC0152216
Fixation nystagmusC0152224
LagophthalmosC0152226
EpiphoraC0152227
Talipes valgusC0152236
Talipes calcaneovalgusC0152237
Septate uterusC0152240
Double uterusC0152240
ANEURYSMAL BONE CYSTSC0152244
SteatosisC0152254
PingueculumC0152255
ANKYLOGLOSSIAC0152415
`TONGUE-TIE`C0152415
Interrupted aortic archC0152419
MicrotiaC0152423
Single ventricleC0152424
PolydactylyC0152427
POLYDACTYLYC0152427
HYMEN, IMPERFORATEC0152436
Imperforate hymenC0152436
SPRENGEL DEFORMITYC0152438
Sprengel deformityC0152438
HIGH SCAPULAC0152438
RetinoschisisC0152439
Madelung deformityC0152441
MADELUNG DEFORMITYC0152441
Chronic nephritisC0152451
Nephritis, chronicC0152451
Kayser-Fleischer ringC0152457
LeukocoriaC0152458
Striae distensaeC0152459
StriaeC0152459
Retinal angiomataC0154051
Cerebral degenerationC0154671
Writer`s crampC0154676
Migraine with auraC0154723
Cerebral cystsC0154724
Exudative retinopathyC0154832
COATS DISEASEC0154832
RETINAL TELANGIECTASISC0154832
Iris synechiaeC0154933
Presenile cataractC0154971
Recurrent corneal erosionsC0155119
CORNEAL DYSTROPHY, BAND-SHAPEDC0155120
Band keratopathyC0155120
BAND KERATOPATHYC0155120
HYPERPIGMENTATION OF EYELIDSC0155211
Orbital cystsC0155285
Optic disk colobomaC0155299
COLOBOMA OF OPTIC NERVEC0155299
Coloboma of optic nerveC0155299
Optic nerve colobomaC0155299
PSEUDOPAPILLEDEMAC0155300
PseudopapilledemaC0155300
Cortical blindnessC0155320
Narrow auditory canalsC0155405
EAR EXOSTOSESC0155411
EXOSTOSES OF EXTERNAL AUDITORY CANALC0155411
VESTIBULOPATHY, FAMILIALC0155502
VERTIGO, BENIGN PAROXYSMAL POSITIONALC0155502
BPPVC0155502
Nerve deafnessC0155550
Hearing loss, mixed conductive-sensorineuralC0155552
Hearing loss (sensorineural, mixed, and conductive)C0155552
Hearing loss, mixedC0155552
Mixed hearing lossC0155552
Mixed deafnessC0155552
PULMONARY ARTERIOVENOUS FISTULASC0155675
Pulmonary artery aneurysmC0155676
Arterial ruptureC0155760
PULMONARY ALVEOLAR MICROLITHIASISC0155912
ANKYLOSIS OF TEETHC0155930
DENTAL ANKYLOSISC0155930
MOLAR I REINCLUSIONC0155930
PERMANENT MOLARS, SECONDARY RETENTION OFC0155930
Displaced teethC0155940
Malpositioned teethC0155940
Malposition of teethC0155940
Granulomatous colitisC0156147
Peritoneal adhesionsC0156181
Small kidneyC0156247
Small kidneysC0156247
BLADDER DIVERTICULUMC0156273
Bladder diverticulaC0156273
Testicular atrophyC0156312
Enlarged clitorisC0156394
Clitoral enlargementC0156394
ClitoromegalyC0156394
Large clitorisC0156394
Irregular menstrual cyclesC0156404
Menstrual irregularitiesC0156404
Irregular mensesC0156404
Recurrent joint dislocationsC0158100
Multiple joint contracturesC0158118
INTERVERTEBRAL DISC DISEASEC0158252
IDDC0158252
Degeneration of intervertebral disksC0158266
Plantar fibromatosisC0158360
`Clawed` toesC0158461
Club handC0158471
Vascular malformationsC0158570
Aortic arch anomaliesC0158629
Congenital lung cystC0158641
Cleft lip and cleft palateC0158646
Cleft lip, Cleft palateC0158646
Cleft lip/palateC0158646
Cleft lip and palateC0158646
AglossiaC0158663
APLASIA OF LACRIMAL AND SALIVARY GLANDSC0158667
SALIVARY GLANDS, ABSENCE OFC0158667
ALSGC0158667
Polycystic liver diseaseC0158683
POLYCYSTIC LIVER DISEASEC0158683
PCLDC0158683
Congenital bilateral hip dislocationC0158713
Pes varusC0158722
Pectus carinatumC0158731
RADIOULNAR SYNOSTOSISC0158761
Radioulnar synostosisC0158761
Absent vertebraeC0158776
CERVICAL RIBC0158779
Cervical ribsC0158779
Neonatal hypoglycemiaC0158986
Hypoglycemia (neonatal)C0158986
Neonatal seizuresC0159020
Seizures, neonatalC0159020
Abnormal EMGC0159109
Dislocations of the wristsC0159941
Dislocations of the kneesC0159970
Knee dislocationsC0159970
Decreased hemoglobinC0162119
Atrophic scarsC0162154
KetonuriaC0162275
Nephrogenic diabetes insipidusC0162283
Palpebral edemaC0162285
Retinal ischemiaC0162291
External ophthalmoplegiaC0162292
Respiratory arrestC0162297
Joint stiffnessC0162298
ADRENOLEUKODYSTROPHYC0162309
Addison diseaseC0162309
ALDC0162309
BRONZE SCHILDER DISEASEC0162309
SIEMERLING-CREUTZFELDT DISEASEC0162309
MELANODERMIC LEUKODYSTROPHYC0162309
ADDISON DISEASE AND CEREBRAL SCLEROSISC0162309
ALOPECIA, ANDROGENETICC0162311
ANDROGENETIC ALOPECIAC0162311
BALDNESS, MALE PATTERNC0162311
AGAC0162311
MPBC0162311
Iron deficiency anemiaC0162316
PolyarthritisC0162323
CHRIST-SIEMENS-TOURAINE SYNDROMEC0162359
ECTODERMAL DYSPLASIA, ANHIDROTICC0162359
ECTODERMAL DYSPLASIA, HYPOHIDROTICC0162359
ECTODERMAL DYSPLASIA, HYPOHIDROTIC, X-LINKEDC0162359
CST SYNDROMEC0162359
HEDC0162359
XLHEDC0162359
XHEDC0162359
EDA1C0162359
EDAC0162359
ED1C0162359
ECTODERMAL DYSPLASIA 1C0162359
ECTODERMAL DYSPLASIA, HIDROTICC0162361
CLOUSTON SYNDROMEC0162361
HEDC0162361
ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANTC0162361
ECTODERMAL DYSPLASIA 2, HIDROTICC0162361
ED2C0162361
AURICULOTEMPORAL NERVE SYNDROMEC0162473
ONCOGENE JUNC0162508
V-JUN AVIAN SARCOMA VIRUS 17 ONCOGENE HOMOLOGC0162508
JUNC0162508
CAROLI DISEASEC0162510
GUNTHER DISEASEC0162530
PORPHYRIA, CONGENITAL ERYTHROPOIETICC0162530
UROPORPHYRINOGEN III SYNTHASE, DEFICIENCY OFC0162530
CEPC0162530
UROS DEFICIENCYC0162530
VARIEGATE PORPHYRIAC0162532
PORPHYRIA VARIEGATAC0162532
PORPHYRIA VARIEGATAC0162532
PROTOPORPHYRINOGEN OXIDASE DEFICIENCYC0162532
VPC0162532
PORPHYRIA, SOUTH AFRICAN TYPEC0162532
PPOX DEFICIENCYC0162532
IgA deficiencyC0162538
Selective IgA deficiencyC0162538
IgA, SELECTIVE DEFICIENCY OFC0162538
IMMUNOGLOBULIN A DEFICIENCYC0162538
IMMUNOGLOBULIN A, SELECTIVE DEFICIENCY OFC0162538
IMMUNOGLOBULIN A DEFICIENCY 1C0162538
IGAD1C0162538
GAMMA-A-GLOBULIN, SELECTIVE DEFICIENCY OFC0162538
Acute liver failureC0162557
Fulminant hepatic failureC0162557
Acute hepatic failureC0162557
PORPHYRIA, ACUTE INTERMITTENTC0162565
PORPHYRIA, SWEDISH TYPEC0162565
PORPHYRIA, HEPATOERYTHROPOIETICC0162569
HEPC0162569
Antiphospholipid antibodyC0162595
ANGELMAN SYNDROMEC0162635
ASC0162635
HAPPY PUPPET SYNDROME, FORMERLYC0162635
MITOCHONDRIAL MYOPATHYC0162670
Mitochondrial myopathyC0162670
MITOCHONDRIAL CYTOPATHYC0162670
MELAS SYNDROMEC0162671
MELAS SYNDROMEC0162671
MELAS SYNDROMEC0162671
MELAS SYNDROMEC0162671
MELASC0162671
MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODESC0162671
MTND4*MELAS11084GC0162671
MTND6*MELAS14453AC0162671
MERRF SYNDROMEC0162672
MERRF SYNDROMEC0162672
MERRFC0162672
MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERSC0162672
Ophthalmoplegia, progressive externalC0162674
Progressive external ophthalmoplegiaC0162674
External ophthalmoplegia, progressive (PEO)C0162674
Disseminated candidiasisC0153252
Uterine cancerC0153567
URETER, CANCER OFC0153619
HELLP syndromeC0162739
Right ventricular hypertrophyC0162770
MUTATED IN COLORECTAL CANCERSC0162804
MCCC0162804
HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIAC0162809
KALLMANN SYNDROME 3C0162809
DE MORSIER SYNDROMEC0162809
KAL3C0162809
SEPTOOPTIC DYSPLASIAC0162809
Septooptic dysplasiaC0162809
APC GENEC0162832
APCC0162832
FAMILIAL ADENOMATOUS POLYPOSISC0162832
ADENOMATOUS POLYPOSIS OF THE COLONC0162832
FAPC0162832
DP2.5C0162832
FPCC0162832
FAMILIAL POLYPOSIS OF THE COLONC0162832
DELETED IN POLYPOSIS 2.5C0162832
POLYPOSIS, ADENOMATOUS INTESTINALC0162832
HyperpigmentationC0162834
Skin hyperpigmentationC0162834
Increased skin pigmentationC0162834
HypopigmentationC0162835
Skin hypopigmentationC0162835
Hypopigmented skinC0162835
POROKERATOSIS PLANTARIS, PALMARIS, ET DISSEMINATAC0162838
ABDOMINAL AORTIC ANEURYSMC0162871
ANEURYSM, ABDOMINAL AORTICC0162871
AORTIC ANEURYSM, ABDOMINALC0162871
AAAC0162871
AAA1C0162871
LUBRICINC0164233
CARBOXYPEPTIDASE LC0164981
CMP-NeuAc HYDROXYLASEC0167797
CMP-Neu5Ac HYDROXYLASEC0167797
CMP-SIALIC ACID HYDROXYLASEC0167797
CMAHC0167797
CSAHC0167797
CYTIDINE MONOPHOSPHO-N-ACETYLNEURAMINIC ACID HYDROXYLASEC0167797
CITRULLINURIAC0175683
ASS DEFICIENCYC0175683
ARGININOSUCCINATE SYNTHETASE DEFICIENCYC0175683
CTLN1C0175683
CITRULLINEMIA, TYPE IC0175683
CITRULLINEMIA, CLASSICC0175683
DUBOWITZ SYNDROMEC0175691
JOHANSON-BLIZZARD SYNDROMEC0175692
JBSC0175692
NASAL ALAR HYPOPLASIA, HYPOTHYROIDISM, PANCREATIC ACHYLIA, AND CONGENITAL DEAFNESSC0175692
SILVER-RUSSELL SYNDROMEC0175693
RUSSELL-SILVER SYNDROMEC0175693
SILVER-RUSSELL DWARFISMC0175693
SILVER SYNDROMEC0175693
SRSC0175693
RSSC0175693
SPASTIC PARAPLEGIA WITH AMYOTROPHY OF HANDS AND FEETC0175693
SILVER SPASTIC PARAPLEGIA SYNDROMEC0175693
SPASTIC PARAPLEGIA 17C0175693
SPG17C0175693
SMITH-LEMLI-OPITZ SYNDROMEC0175694
RUTLEDGE LETHAL MULTIPLE CONGENITAL ANOMALY SYNDROMEC0175694
RSH SYNDROMEC0175694
LETHAL ACRODYSGENITAL SYNDROMEC0175694
SLO SYNDROMEC0175694
SLOSC0175694
POLYDACTYLY, SEX REVERSAL, RENAL HYPOPLASIA, AND UNILOBAR LUNGC0175694
NEVO SYNDROMEC0175695
NEVO SYNDROMEC0175695
NEVO SYNDROMEC0175695
SOTOS SYNDROMEC0175695
CEREBRAL GIGANTISMC0175695
OPITZ SYNDROMEC0175696
OSC0175696
OPITZ SYNDROME, X-LINKEDC0175696
OSXC0175696
OPITZ G/BBB SYNDROME, TYPE IC0175696
BBBG1C0175696
OPITZ BBBG SYNDROME, TYPE IC0175696
OPITZ G/BBB SYNDROME, X-LINKEDC0175696
OPITZ-G SYNDROME, TYPE IC0175696
OGS1C0175696
VAN DER WOUDE SYNDROMEC0175697
PITC0175697
CLEFT LIP AND/OR PALATE WITH MUCOUS CYSTS OF LOWER LIPC0175697
LPSC0175697
VDWSC0175697
VWSC0175697
LIP-PIT SYNDROMEC0175697
SAETHRE-CHOTZEN SYNDROMEC0175699
SAETHRE-CHOTZEN SYNDROMEC0175699
ACROCEPHALOSYNDACTYLY, TYPE IIIC0175699
CHOTZEN SYNDROMEC0175699
ACS3C0175699
SCSC0175699
ACS IIIC0175699
ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLYC0175699
AARSKOG SYNDROMEC0175701
FACIOGENITAL DYSPLASIAC0175701
AASC0175701
AARSKOG-SCOTT SYNDROMEC0175701
FACIODIGITOGENITAL SYNDROMEC0175701
FGDYC0175701
WILLIAMS SYNDROMEC0175702
WILLIAMS-BEUREN SYNDROMEC0175702
WBSC0175702
WSC0175702
ELFIN FACIES WITH HYPERCALCEMIAC0175702
WMSC0175702
THROMBOCYTOPENIA-ABSENT RADIUS SYNDROMEC0175703
TAR SYNDROMEC0175703
MULTIPLE LENTIGINES SYNDROMEC0175704
LENTIGINOSIS, GENERALIZEDC0175704
LENTIGINOSIS, CARDIOMYOPATHICC0175704
LENTIGINOSIS, INHERITED PATTERNEDC0175704
LENTIGINOSIS PROFUSAC0175704
LENTIGINOSIS, DIFFUSEC0175704
LEOPARD SYNDROME 1C0175704
ASPLENIA WITH CARDIOVASCULAR ANOMALIESC0175707
IVEMARK SYNDROMEC0175707
AICARDI SYNDROMEC0175713
AICC0175713
CORPUS CALLOSUM, AGENESIS OF, WITH CHORIORETINAL ABNORMALITYC0175713
Nevus unius laterisC0175743
Agenesis of corpus callosumC0175754
CORPUS CALLOSUM, AGENESIS OFC0175754
Corpus callosum agenesisC0175754
Agenesis of the corpus callosumC0175754
Absence of corpus callosumC0175754
Absent corpus callosumC0175754
ACCC0175754
AtheliaC0175755
ATHELIAC0175755
TIBIA VARAC0175756
BLOUNT DISEASEC0175756
OSTEOCHONDROSIS DEFORMANS TIBIAEC0175756
Hypoplastic anemiaC0178416
Breast fibroadenomasC0178421
Sinus arrestC0178428
GlomerulosclerosisC0178664
Shortening of the Achilles tendonC0188869
HEMATOLOGYC0200627
Oligoclonal bands in CSFC0201942
Myelin basic protein in CSFC0201948
LongC0205166
MISCELLANEOUSC0205395
ProminentC0205402
SporadicC0205422
HISTOLOGYC0205462
NEUROLOGICC0205494
ASYMMETRIC SEPTAL HYPERTROPHYC0205700
Asymmetric septal hypertrophyC0205700
HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHICC0205700
ASHC0205700
CARDIOMYOPATHY, FAMILIAL HYPERTROPHICC0205700
CMHC0205700
VENTRICULAR HYPERTROPHY, HEREDITARYC0205700
ALPERS SYNDROMEC0205710
ALPERS SYNDROMEC0205710
ALPERS SYNDROMEC0205710
ALPERS SYNDROMEC0205710
ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSISC0205710
NEURONAL DEGENERATION OF CHILDHOOD WITH LIVER DISEASE, PROGRESSIVEC0205710
ALPERS-HUTTENLOCHER SYNDROMEC0205710
PNDCC0205710
ALPERS PROGRESSIVE INFANTILE POLIODYSTROPHYC0205710
PELIZAEUS-MERZBACHER DISEASEC0205711
PMDC0205711
ROUSSY-LEVY SYNDROMEC0205713
ROUSSY-LEVY SYNDROMEC0205713
ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIAC0205713
DENTINOGENESIS IMPERFECTA, SHIELDS TYPE IIC0205730
DENTINOGENESIS IMPERFECTA, SHIELDS TYPE IIC0205730
DENTINOGENESIS IMPERFECTA WITHOUT OSTEOGENESIS IMPERFECTAC0205730
DENTINOGENESIS IMPERFECTA 1C0205730
OPALESCENT DENTINC0205730
CAPDEPONT TEETHC0205730
DGI1C0205730
OPALESCENT TEETH WITHOUT OSTEOGENESIS IMPERFECTAC0205730
DGI-IIC0205730
CHOROID PLEXUS PAPILLOMAC0205770
PAPILLOMA OF CHOROID PLEXUSC0205770
GERM CELL TUMORC0205851
GCTC0205851
PapillomatosisC0205875
FATAL FAMILIAL INSOMNIAC0206042
FATAL FAMILIAL INSOMNIAC0206042
INSOMNIA, FATAL FAMILIALC0206042
FFIC0206042
Interstitial pneumonitisC0206061
Interstitial lung diseaseC0206062
FOCAL EPITHELIAL HYPERPLASIA, ORALC0206067
HECK DISEASEC0206067
FEH, ORALC0206067
KLEINE-LEVIN SYNDROMEC0206085
KLEINE-LEVIN HIBERNATION SYNDROMEC0206085
WAGR SYNDROMEC0206115
WILMS TUMOR--ANIRIDIA--GENITOURINARY ANOMALIES--MENTAL RETARDATION SYNDROMEC0206115
WAGROC0206115
WAGR SYNDROME WITH OBESITYC0206115
CREST SYNDROMEC0206138
HYPEREOSINOPHILIC SYNDROME, IDIOPATHICC0206141
HESC0206141
ReticulocytosisC0206160
CANAVAN DISEASEC0206307
CANAVAN-VAN BOGAERT-BERTRAND DISEASEC0206307
SPONGY DEGENERATION OF CENTRAL NERVOUS SYSTEMC0206307
ASPARTOACYLASE DEFICIENCYC0206307
ASP DEFICIENCYC0206307
ASPA DEFICIENCYC0206307
AMINOACYLASE 2 DEFICIENCYC0206307
ACY2 DEFICIENCYC0206307
EXFOLIATION SYNDROMEC0206368
PSEUDOEXFOLIATION SYNDROMEC0206368
XFSC0206368
PSEUDOEXFOLIATION OF THE LENSC0206368
XFGC0206368
EXFOLIATION GLAUCOMAC0206368
Peripheral nervous systemC0206417
Cystic hygromaC0206620
HepatoblastomaC0206624
MYXOID LIPOSARCOMAC0206634
Mesenteric fibromatosisC0206646
RHABDOMYOSARCOMA, ALVEOLARC0206655
RMS2C0206655
RMSAC0206655
RHABDOMYOSARCOMA 2C0206655
ALVEOLAR SOFT-PART SARCOMAC0206657
ASPSC0206657
Embryonal carcinomaC0206659
GonadoblastomaC0206661
GONADOBLASTOMAC0206661
GBYC0206661
Adrenocortical adenomasC0206667
HidrocystomasC0206672
THYROID CARCINOMA, FOLLICULARC0206682
FTCC0206682
Sebaceous carcinomaC0206684
Adrenocortical carcinomasC0206686
PilomatrixomaC0206711
PILOMATRIXOMAC0206711
PILOMATRICOMAC0206711
PTRC0206711
EPITHELIOMA CALCIFICANS OF MALHERBEC0206711
ESTHESIONEUROBLASTOMAC0206717
GanglioneuroblastomaC0206718
SUBEPENDYMOMAC0206725
Plexiform neurofibromaC0206728
NeurofibrosarcomaC0206729
Blue neviC0206736
RHABDOID TUMORC0206743
RDTC0206743
MALIGNANT RHABDOID TUMORC0206743
MRTC0206743
KERATINOCYTE GROWTH FACTOR RECEPTORC0209706
KGFRC0209706
SECRETONEURINC0216115
SNC0216115
MELANOMA, UVEALC0220633
Intraocular melanomaC0220633
ACROCEPHALOSYNDACTYLY, TYPE VC0220658
PFEIFFER SYNDROMEC0220658
PFEIFFER SYNDROMEC0220658
PFEIFFER SYNDROMEC0220658
ACS5C0220658
ACS VC0220658
NOACK SYNDROMEC0220658
ACRODYSOSTOSISC0220659
PERIPHERAL DYSOSTOSISC0220659
ADACTYLIA, UNILATERALC0220660
TERMINAL TRANSVERSE DEFECTS OF HAND, UNILATERALC0220660
ARTHROGRYPOSIS, DISTAL, TYPE 1C0220662
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IC0220662
DA1C0220662
AMCD1C0220662
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUSC0220663
BPESC0220663
BRACHYDACTYLY, TYPE DC0220664
BRACHYDACTYLY, TYPE DC0220664
BRACHYDACTYLY, TYPE DC0220664
BDDC0220664
STUB THUMBC0220664
GORDON SYNDROMEC0220666
CAMPTODACTYLY, CLEFT PALATE, AND CLUBFOOTC0220666
DA3C0220666
ARTHROGRYPOSIS, DISTAL, TYPE 3C0220666
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIAC0220666
DEAFNESS, PROGRESSIVE HIGH-TONE NEURALC0220672
EHLERS-DANLOS SYNDROME, AUTOSOMAL DOMINANT, TYPE UNSPECIFIEDC0220679
EDS, UNSPECIFIED TYPEC0220679
EHLERS-DANLOS SYNDROME, FRIEDMAN-HARROD TYPEC0220679
HEMIFACIAL MICROSOMIA WITH RADIAL DEFECTSC0220681
GOLDENHAR SYNDROME WITH IPSILATERAL RADIAL DEFECTC0220681
OAVS WITH RADIAL DEFECTC0220681
OCULOAURICULOVERTEBRAL SPECTRUM WITH RADIAL DEFECTC0220681
ACHONDROGENESIS, TYPE IIC0220685
ACHONDROGENESIS, TYPE IIC0220685
CHONDROGENESIS IMPERFECTAC0220685
ACHONDROGENESIS-HYPOCHONDROGENESIS, TYPE IIC0220685
ACHONDROGENESIS, LANGER-SALDINO TYPEC0220685
ACHONDROGENESIS, TYPE IB, FORMERLYC0220685
ACG2C0220685
AASE-SMITH SYNDROME IC0220686
JOINT CONTRACTURES WITH OTHER ABNORMALITIESC0220686
KBG SYNDROMEC0220687
SHORT STATURE, CHARACTERISTIC FACIES, MACRODONTIA, MENTAL RETARDATION, AND SKELETAL ANOMALIESC0220687
MACROCEPHALY, BENIGN FAMILIALC0220690
COLE-HUGHES SYNDROMEC0220690
MAXILLONASAL DYSPLASIA, BINDER TYPEC0220692
BINDER SYNDROMEC0220692
MICROCEPHALY, AUTOSOMAL DOMINANTC0220693
NEUROFIBROMATOSIS, TYPE IV, OF RICCARDIC0220695
NF IVC0220695
NF4C0220695
NEUROFIBROMATOSIS, ATYPICALC0220695
NEUROFIBROMATOSIS, VARIANT FORM(S) OFC0220695
POLYDACTYLY, POSTAXIALC0220697
POLYDACTYLY, POSTAXIALC0220697
Postaxial polydactylyC0220697
Polydactyly, postaxialC0220697
PAPAC0220697
POSTAXIAL POLYDACTYLY, TYPE AC0220697
POLYDACTYLY, POSTAXIAL, TYPE A1C0220697
PAPA1C0220697
RETINITIS PIGMENTOSA 1C0220701
RP1C0220701
SCHIZOPHRENIA 1C0220702
SCZD1C0220702
SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 5-RELATEDC0220702
VELOCARDIOFACIAL SYNDROMEC0220704
VCFSC0220704
22q11.2 DELETION SYNDROMEC0220704
22q11.2 DELETION SYNDROMEC0220704
SHPRINTZEN VCF SYNDROMEC0220704
VCF SYNDROMEC0220704
UROGENITAL ADYSPLASIA, HEREDITARYC0220706
RENAL AGENESISC0220706
BILATERAL RENAL AGENESISC0220706
BRAC0220706
HRAC0220706
HEREDITARY RENAL ADYSPLASIAC0220706
VATER ASSOCIATIONC0220708
ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OFC0220710
Deficiency of medium-chain acyl-CoA dehydrogenaseC0220710
MCAD DEFICIENCYC0220710
ACADM DEFICIENCYC0220710
CARNITINE DEFICIENCY SECONDARY TO MEDIUM-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCYC0220710
MCADH DEFICIENCYC0220710
ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OFC0220711
ACADL DEFICIENCYC0220711
LCAD DEFICIENCYC0220711
CATARACT, CONGENITAL OR JUVENILEC0220721
CEREBROOCULOFACIOSKELETAL SYNDROME 1C0220722
COFS SYNDROMEC0220722
COFS1C0220722
PENA-SHOKEIR SYNDROME, TYPE IIC0220722
CHOANAL ATRESIA, POSTERIORC0220723
PCAC0220723
CONSTRICTING BANDS, CONGENITALC0220724
ABSC0220724
AMNIOTIC BAND SEQUENCEC0220724
STREETER ANOMALYC0220724
DIASTROPHIC DYSPLASIAC0220726
DIASTROPHIC DYSPLASIAC0220726
DIASTROPHIC DYSPLASIAC0220726
DTDC0220726
DDC0220726
FRYNS SYNDROMEC0220730
FRNSC0220730
DIAPHRAGMATIC HERNIA, ABNORMAL FACE, AND DISTAL LIMB ANOMALIESC0220730
HEMANGIOMATOSIS, CUTANEOUS, WITH ASSOCIATED FEATURESC0220738
HYPERTELORISM, MICROTIA, FACIAL CLEFTING SYNDROMEC0220742
HMC SYNDROMEC0220742
HYPOPHOSPHATASIA, CHILDHOODC0220743
INTESTINAL ATRESIA, MULTIPLEC0220744
FAMILIAL INTESTINAL POLYATRESIA SYNDROMEC0220744
FIPAC0220744
CARTILAGE-HAIR HYPOPLASIAC0220748
METAPHYSEAL CHONDRODYSPLASIA, MCKUSICK TYPEC0220748
CHHC0220748
MUCOPOLYSACCHARIDOSES, UNCLASSIFIED TYPESC0220752
Biotinidase deficiencyC0220754
BIOTINIDASE DEFICIENCYC0220754
MULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSETC0220754
BTD DEFICIENCYC0220754
NIEMANN-PICK DISEASE, TYPE CC0220756
NPCC0220756
NIEMANN-PICK DISEASE, TYPE C1C0220756
NIEMANN-PICK DISEASE WITH CHOLESTEROL ESTERIFICATION BLOCKC0220756
NIEMANN-PICK DISEASE, CHRONIC NEURONOPATHIC FORMC0220756
NIEMANN-PICK DISEASE WITHOUT SPHINGOMYELINASE DEFICIENCYC0220756
NEUROVISCERAL STORAGE DISEASE WITH VERTICAL SUPRANUCLEAR OPHTHALMOPLEGIAC0220756
NPC1C0220756
NIEMANN-PICK DISEASE, SUBACUTE JUVENILE FORMC0220756
OSTEOCHONDROSIS DEFORMANS TIBIAE, FAMILIAL INFANTILE TYPEC0220757
BLOUNT DISEASEC0220757
TIBIA VARAC0220757
TWINNING, DIZYGOTICC0220761
Absent vaginaC0220763
WEAVER-LIKE SYNDROMEC0220765
Adrenal hypoplasiaC0220766
ADRENAL HYPOPLASIA, CONGENITALC0220766
AHCHC0220766
CYTOMEGALIC ADRENOCORTICAL HYPOPLASIAC0220766
AHC WITH HHGC0220766
AHCC0220766
ADDISON DISEASE, X-LINKEDC0220766
ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISMC0220766
AHC WITH ISOLATED GONADOTROPIN DEFICIENCYC0220766
AHXC0220766
CRANIOFRONTONASAL SYNDROMEC0220767
CRANIOFRONTONASAL DYSPLASIAC0220767
CRANIOFRONTONASAL DYSOSTOSISC0220767
CFNSC0220767
CFNDC0220767
FG SYNDROMEC0220769
FGSC0220769
OKSC0220769
OPITZ-KAVEGGIA SYNDROMEC0220769
KELLER SYNDROMEC0220769
FG SYNDROME 1C0220769
FGS1C0220769
MENTAL RETARDATION, LARGE HEAD, IMPERFORATE ANUS, CONGENITAL HYPOTONIA, AND PARTIAL AGENESIS OF CORPUS CALLOSUMC0220769
RUSSELL-SILVER SYNDROME, X-LINKEDC0220775
PARTINGTON SYNDROMEC0220775
RUSSELL-SILVER-LIKE SYNDROME WITH SKIN PIGMENTATIONC0220775
SPONDYLOEPIPHYSEAL DYSPLASIA, LATEC0220776
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKEDC0220776
SEDTC0220776
SED TARDA, X-LINKEDC0220776
WhiteC0220938
Metabolic acidosisC0220981
KetoacidosisC0220982
LIPODYSTROPHY, PARTIAL, ACQUIREDC0220989
BARRAQUER-SIMONS SYNDROMEC0220989
APLC0220989
LIPODYSTOPHY, PARTIAL, PROGRESSIVEC0220989
LIPODYSTROPHY, CEPHALOTHORACIC TYPEC0220989
HISTIDINEMIAC0220992
HISTIDINE AMMONIA-LYASE DEFICIENCYC0220992
HISTIDASE DEFICIENCYC0220992
HAL DEFICIENCYC0220992
HIS DEFICIENCYC0220992
CYSTATHIONINURIAC0220993
CYSTATHIONINURIAC0220993
HyperammonemiaC0220994
PAPULOSIS, MALIGNANT ATROPHICC0221011
MALIGNANT ATROPHIC PAPULOSISC0221011
DEGOS DISEASEC0221011
Microangiopathic hemolytic anemiaC0221021
HYPERBILIRUBINEMIA, SHUNTC0221021
CYCLIC HEMATOPOIESISC0221023
NEUTROPENIA, CYCLICC0221023
KASABACH-MERRITT SYNDROMEC0221025
HEMANGIOMA-THROMBOCYTOPENIA SYNDROMEC0221025
Kasabach-Merrit syndromeC0221025
KMSC0221025
AGAMMAGLOBULINEMIA, X-LINKEDC0221026
XLAC0221026
Generalized lipodystrophyC0221032
Lipodystrophy, generalizedC0221032
LIDDLE SYNDROMEC0221043
WELANDER DISTAL MYOPATHYC0221054
MYOPATHY, LATE DISTAL HEREDITARYC0221054
MYOPATHY, DISTAL 1C0221054
MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANTC0221054
MPD1C0221054
WDMC0221054
LAING DISTAL MYOPATHYC0221054
MUSCULAR DYSTROPHY, DISTAL, LATE-ONSET, AUTOSOMAL DOMINANTC0221054
MYOPATHY, DISTAL, SWEDISHC0221054
PARAMYOTONIA CONGENITAC0221055
MOBIUS SYNDROMEC0221060
MOEBIUS SYNDROMEC0221060
MOEBIUS SEQUENCEC0221060
MBSC0221060
BEHR SYNDROMEC0221061
OPTIC ATROPHY, INFANTILE HEREDITARY, WITH NEUROLOGIC ABNORMALITIESC0221061
ParaparesisC0221166
Muscle stiffnessC0221170
ChordeeC0221182
YellowC0221205
Pelvic kidneyC0221209
VOLVULUS OF MIDGUTC0221210
Intestinal malrotationC0221210
Malrotation of gutC0221210
Malrotation of the gutC0221210
Talipes equinusC0221213
Pterygium colliC0221217
Neck websC0221217
Webbed neckC0221217
Seborrheic dermatitis (scalp)C0221244
Eruptive xanthomasC0221252
TrichiasisC0221259
OnychodystrophyC0221260
Nail dystrophyC0221260
Dystrophic nailsC0221260
KoilonychiaC0221261
Spoon-shaped nailsC0221261
PoliosisC0221262
Cafe au lait spotsC0221263
Cafe-au-lait spotsC0221263
AcanthosisC0221270
Elastosis perforans serpiginosaC0221271
ELASTOSIS PERFORANS SERPIGINOSAC0221271
EPSC0221271
MIESCHER ELASTOMAC0221271
ELASTOMA INTRAPAPILLARE PERFORANS VERRUCIFORMISC0221271
Burr-cellsC0221279
`Burr cells`C0221279
SchistocytesC0221282
AcrocyanosisC0221347
YELLOW NAIL SYNDROMEC0221348
YELLOW NAIL SYNDROMEC0221348
LYMPHEDEMA AND YELLOW NAILSC0221348
Finger syndactylyC0221352
Webbed fingersC0221352
Horseshoe kidneyC0221353
Frontal bossingC0221354
MacrocephalyC0221355
BrachycephalyC0221356
BrachydactylyC0221357
DolichocephalyC0221358
Agenesis of diaphragmC0221360
BIFID NOSEC0221363
BIFID NOSEC0221363
Bifid noseC0221363
MEDIAN FISSURE OF NOSEC0221363
NOSE, MEDIAN CLEFT OFC0221363
Bifid ureterC0221365
Double uretersC0221365
Claw handC0221373
Claw handsC0221373
Cushing diseaseC0221406
CUSHING DISEASE, PITUITARYC0221406
Gastric painC0221512
Proximal muscle weaknessC0221629
Muscle weakness, proximalC0221629
Limb-girdle muscle weaknessC0221629
Muscle weakness, limb-girdleC0221629
Bronchial obstructionC0221725
Back stiffnessC0221758
Diastasis rectiC0221766
LUMBAR DISC DISEASEC0221775
LDDC0221775
Wormian boneC0222716
Wormian bonesC0222716
MouthC0226896
External genitalia, femaleC0227747
Internal genitalia, femaleC0227748
External genitalia, maleC0227922
Internal genitalia, maleC0227923
Cavum septum pellucidumC0228158
Retinal foldsC0229197
Epicanthal foldC0229249
Epicanthal foldsC0229249
Small pelvisC0230278
Urogenital sinusC0231057
Atrioventricular canalC0231081
Poor weight gainC0231246
Heat intoleranceC0231274
Premature agingC0231341
Abnormal posturingC0231471
Decerebrate posturingC0231474
Decerebrate postureC0231474
Decorticate postureC0231475
Decorticate posturingC0231475
MyalgiaC0231528
MyalgiasC0231528
Muscle painC0231528
Ulnar deviation of the wristC0231678
Ulnar deviation of wristsC0231678
Ulnar deviation of the fingersC0231679
Ulnar deviation of fingersC0231679
Unsteady gaitC0231686
Unstable gaitC0231686
Gait instabilityC0231686
Spastic gaitC0231687
Shuffling gaitC0231688
Festinate gaitC0231694
Scissors gaitC0231698
Scissoring gaitC0231698
Waddling gaitC0231712
`Waddling` gaitC0231712
Knee painC0231749
Arthralgias (knees)C0231749
Knee arthralgiaC0231749
Arthralgia (knee)C0231749
Exertional dyspneaC0231807
Dyspnea, exertionalC0231807
TachypneaC0231835
PULMONARY FUNCTIONC0231921
PLFC0231921
Normal blood pressureC0232105
FibrillationsC0232197
Ventricular escape rhythmsC0232216
PlethoraC0232370
Decreased appetiteC0232462
Poor appetiteC0232462
Feeding difficultiesC0232466
Feeding problemsC0232466
Abdominal colicC0232488
Premature tooth lossC0232513
Premature loss of teethC0232513
Decreased liver functionC0232744
Gallbladder dysfunctionC0232769
HyposthenuriaC0232831
Secondary enuresisC0232848
Primary amenorrheaC0232939
Secondary amenorrheaC0232940
SPERMATOGENESIS ARRESTC0232981
AZOOSPERMIA DUE TO PERTURBATIONS OF MEIOSISC0232981
AZOOSPERMIA WITH MATURATION ARRESTC0232981
Term deliveryC0233089
DisorientationC0233407
Attention disturbancesC0233414
InattentivenessC0233415
Emotional bluntingC0233469
HyperirritabilityC0233480
Inappropriate behaviorC0233522
BradykinesiaC0233565
Onychotillomania (pulling out nails)C0233623
PerseverationC0233651
Speech impairmentC0233715
Speech abnormalitiesC0233715
Speech disturbancesC0233715
Impaired speechC0233715
CoprolaliaC0233729
Auditory hallucinationsC0233762
Visual hallucinationsC0233763
Hypnagogic hallucinationsC0233773
Memory impairmentC0233794
Impaired memoryC0233794
Memory deficitsC0233794
Lack of insightC0233824
ClumsinessC0233844
Pyramidal signsC0234132
Extrapyramidal symptomsC0234133
Extrapyramidal signsC0234133
DysgraphiaC0234144
AreflexiaC0234146
DysmetriaC0234162
HypermetriaC0234164
Gowers signC0234182
Gower signC0234182
AcroparesthesiaC0234221
HyposmiaC0234260
Action tremorC0234376
Tremor, intentionC0234376
Intention tremorC0234376
Postural tremorC0234378
Resting tremorC0234379
Disturbances of consciousnessC0234428
Cough syncopeC0234435
AnarthriaC0234517
Slurred speechC0234518
Generalized seizuresC0234533
Normal visionC0234622
Reduced visual acuityC0234632
Decreased visual acuityC0234632
Loss of visual acuityC0234632
Ocular dysmetriaC0234649
Increased intraocular pressureC0234708
Normal hearingC0234725
Throat clearingC0234771
Absent gag reflexC0234784
Facial grimacingC0234853
Weak cryC0234860
ANNULAR ERYTHEMAC0234906
Erythematous skin rashesC0234913
Morbilliform rashC0234918
Poor balanceC0234964
Choreoathetoid movementsC0234967
Simple partial seizuresC0234974
DysdiadochokinesisC0234979
DysdiadochokinesiaC0234979
Mental deteriorationC0234985
Rigid gaitC0234996
Bulging fontanelleC0235014
Motor neuropathyC0235025
Limb tremorC0235081
Tremor of limbsC0235081
Constricted visual fieldsC0235095
EuphoriaC0235146
Sleep difficultiesC0235162
Concentration difficultiesC0235198
Lack of concentrationC0235198
Subcapsular cataractC0235259
Subcapsular cataractsC0235259
Eye irritationC0235266
KeratopathyC0235270
Yellow teethC0235356
HypertonicityC0235396
Abnormal glucose toleranceC0235401
KetonemiaC0235430
Ankle swellingC0235439
Right ventricular failureC0235527
IsosthenuriaC0235627
Reduced fetal movementC0235659
Reduced fetal movementsC0235659
Decreased fetal movementC0235659
Decreased fetal movementsC0235659
GALACTORRHEAC0235660
Thoracic painC0235717
Breath holdingC0235744
PORT-WINE STAINC0235752
Nevus flammeusC0235752
UNNA NEVUSC0235752
NEVI FLAMMEI, FAMILIAL MULTIPLEC0235752
NEVUS FLAMMEUS OF NAPE OF NECKC0235752
ERYTHEMA NUCHAEC0235752
Congenital diaphragmatic herniaC0235833
DIAPHRAGMATIC HERNIA, CONGENITALC0235833
HERNIA, CONGENITAL DIAPHRAGMATICC0235833
CDHC0235833
HCDC0235833
DIAPHRAGMATIC DEFECT, CONGENITALC0235833
HEMIDIAPHRAGM, AGENESIS OFC0235833
DIAPHRAGM, UNILATERAL AGENESIS OFC0235833
Neonatal diarrheaC0235840
Decreased lacrimationC0235857
Decreased tearingC0235857
HYPERTRICHOSIS UNIVERSALISC0235864
HYPERTRICHOSIS LANUGINOSA CONGENITAC0235864
Leg edemaC0235886
Pulmonary infiltratesC0235896
Cerebral atrophyC0235946
Cortical atrophyC0235946
Brain atrophyC0235946
Elevated alpha-fetoproteinC0235971
Pancreatic carcinomaC0235974
PANCREATIC CARCINOMAC0235974
PANCREATIC ACINAR CARCINOMAC0235974
Normochromic anemiaC0235983
Decreased serum ironC0235988
Renal interstitial fibrosisC0235989
Small for gestational ageC0235991
Elevated liver enzymesC0235996
Pharyngeal edemaC0236024
Muscle hypertrophyC0236033
MUSCLE HYPERTROPHYC0236033
Decreased thyroxineC0236047
POLYPOSIS, GASTRICC0236048
Multiple gastric polypsC0236048
Mucosal ulcerationC0236053
Increased susceptibility to infectionsC0236171
Increased susceptibility to infectionC0236171
Elevated IgEC0236175
Increased IgEC0236175
IgE, ELEVATED LEVEL OFC0236175
PICK DISEASE OF BRAINC0236642
LOBAR ATROPHY OF BRAINC0236642
DEMENTIA WITH LOBAR ATROPHY AND NEURONAL CYTOPLASMIC INCLUSIONSC0236642
PHOBIA, SPECIFICC0236801
Specific phobiasC0236801
PHOBIA, SIMPLEC0236801
DyscalculiaC0236824
Facial grimaceC0237281
Irregular heart beatC0237314
Irregular heartbeatC0237314
WithdrawalC0237955
Concentric hypertrophic cardiomyopathyC0238044
Cerebral vasculitisC0238051
CEREBROTENDINOUS XANTHOMATOSISC0238052
 
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