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2024-02-10
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Dysmorphic hematuriaHPO
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HP:0032957
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Nasal ulcerHPO
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HP:0033361
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Autosomal dominant inheritanceHPO
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HP:0000006
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Autosomal recessive inheritanceHPO
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HP:0000007
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Central retinal exudateHPO
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HP:0007822
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Retinal infarctionHPO
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HP:0007866
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CylindruriaHPO
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HP:0012615
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Abnormal total hemolytic complement activityHPO
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HP:0031904
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Abnormal liver morphologyHPO
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HP:0410042
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FeverHPO
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HP:0001945
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Gingival overgrowthHPO
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HP:0000212
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KeratoconusHPO
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HP:0000563
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MyopiaHPO
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HP:0000545
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Joint hyperflexibility (OBSOLETE, replaced by 'Joint hypermobility')HPO
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HP:0005692
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AnxietyHPO
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HP:0000739
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Multicystic kidney dysplasiaHPO
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HP:0000003
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CryptorchidismHPO
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HP:0000028
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Ureteropelvic junction obstructionHPO
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HP:0000074
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Vesicoureteral refluxHPO
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HP:0000076
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ProteinuriaHPO
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HP:0000093
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Tall statureHPO
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HP:0000098
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Renal agenesisHPO
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HP:0000104
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Renal cystHPO
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HP:0000107
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Polycystic kidney dysplasiaHPO
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HP:0000113
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Unilateral renal agenesisHPO
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HP:0000122
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Oral ulcerHPO
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HP:0000155
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Cleft palateHPO
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HP:0000175
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Bifid uvulaHPO
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HP:0000193
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DolichocephalyHPO
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HP:0000268
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Malar flatteningHPO
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HP:0000272
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Hearing impairmentHPO
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HP:0000365
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Conductive hearing impairmentHPO
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HP:0000405
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Sensorineural hearing impairmentHPO
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HP:0000407
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EpistaxisHPO
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HP:0000421
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Abnormal retinal morphologyHPO
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HP:0000479
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AstigmatismHPO
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HP:0000483
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StrabismusHPO
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HP:0000486
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RetinopathyHPO
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HP:0000488
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KeratitisHPO
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HP:0000491
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BlepharitisHPO
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HP:0000498
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GlaucomaHPO
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HP:0000501
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ConjunctivitisHPO
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HP:0000509
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CataractHPO
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HP:0000518
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UveitisHPO
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HP:0000554
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Visual lossHPO
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HP:0000572
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Retinal hemorrhageHPO
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HP:0000573
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Blurred visionHPO
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HP:0000622
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Dental crowdingHPO
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HP:0000678
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PsychosisHPO
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HP:0000709
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Abnormal sternum morphologyHPO
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HP:0000766
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NephrolithiasisHPO
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HP:0000787
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HematuriaHPO
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HP:0000790
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Abnormal external genitalia morphologyHPO
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HP:0000811
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HypothyroidismHPO
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HP:0000821
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HypertensionHPO
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HP:0000822
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Hyperextensible skinHPO
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HP:0000974
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Soft skinHPO
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HP:0000977
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Bruising susceptibilityHPO
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HP:0000978
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PurpuraHPO
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HP:0000979
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Striae distensaeHPO
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HP:0001065
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Atrophic scarsHPO
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HP:0001075
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Ectopia lentisHPO
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HP:0001083
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Sudden loss of visual acuityHPO
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HP:0001117
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LenticonusHPO
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HP:0001142
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ArachnodactylyHPO
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HP:0001166
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SeizureHPO
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HP:0001250
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MeningitisHPO
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HP:0001287
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ConfusionHPO
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HP:0001289
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StrokeHPO
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HP:0001297
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Limited elbow extensionHPO
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HP:0001377
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Joint hypermobilityHPO
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HP:0001382
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Subcutaneous noduleHPO
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HP:0001482
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Disproportionate tall statureHPO
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HP:0001519
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AlopeciaHPO
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HP:0001596
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Subglottic stenosisHPO
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HP:0001607
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Abnormal heart morphologyHPO
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HP:0001627
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Mitral valve prolapseHPO
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HP:0001634
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Congestive heart failureHPO
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HP:0001635
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CardiomyopathyHPO
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HP:0001638
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Bicuspid aortic valveHPO
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HP:0001647
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Mitral regurgitationHPO
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HP:0001653
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Abnormal heart valve morphologyHPO
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HP:0001654
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Aortic regurgitationHPO
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HP:0001659
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Angina pectorisHPO
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HP:0001681
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PericarditisHPO
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HP:0001701
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Pes planusHPO
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HP:0001763
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Weight lossHPO
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HP:0001824
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ThrombocytopeniaHPO
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HP:0001873
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LeukopeniaHPO
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HP:0001882
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TalipesHPO
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HP:0001883
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Acute kidney injuryHPO
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HP:0001919
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PleuritisHPO
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HP:0002102
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HemoptysisHPO
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HP:0002105
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Spontaneous pneumothoraxHPO
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HP:0002108
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Pulmonary infiltratesHPO
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HP:0002113
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HeadacheHPO
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HP:0002315
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Aortic root aneurysmHPO
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HP:0002616
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Varicose veinsHPO
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HP:0002619
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VasculitisHPO
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HP:0002633
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Aortic dissectionHPO
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HP:0002647
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High, narrow palateHPO
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HP:0002705
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Respiratory failureHPO
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HP:0002878
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Microscopic hematuriaHPO
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HP:0002907
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Genital ulcersHPO
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HP:0003249
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MyalgiaHPO
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HP:0003326
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Easy fatigabilityHPO
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HP:0003388
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Antinuclear antibody positivityHPO
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HP:0003493
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Ascending aortic dissectionHPO
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HP:0004933
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Dilatation of the cerebral arteryHPO
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HP:0004944
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Descending thoracic aorta aneurysmHPO
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HP:0004959
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Ascending tubular aorta aneurysmHPO
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HP:0004970
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Arthralgia/arthritisHPO
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HP:0005059
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Aortic arch aneurysmHPO
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HP:0005113
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Decreased circulating complement C3 concentrationHPO
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HP:0005421
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Multiple renal cystsHPO
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HP:0005562
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Thoracolumbar kyphosisHPO
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HP:0005619
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Finger joint hypermobilityHPO
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HP:0006094
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Polycystic liver diseaseHPO
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HP:0006557
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Aortic tortuosityHPO
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HP:0006687
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Cranial nerve paralysisHPO
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HP:0006824
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Renal hypoplasia/aplasiaHPO
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HP:0008678
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Bilateral cryptorchidismHPO
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HP:0008689
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Aplasia/Hypoplasia of the uvulaHPO
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HP:0010293
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Hyperextensibility at elbowHPO
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HP:0010485
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Congenital posterior urethral valveHPO
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HP:0010957
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Bilateral renal agenesisHPO
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HP:0010958
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Abnormality of mental functionHPO
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HP:0011446
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PyuriaHPO
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HP:0012085
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Erythema nodosumHPO
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HP:0012219
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Abnormal brain morphologyHPO
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HP:0012443
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Descending aortic dissectionHPO
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HP:0012499
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Macroscopic hematuriaHPO
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HP:0012587
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Chronic kidney diseaseHPO
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HP:0012622
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Retinal vein occlusionHPO
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HP:0012636
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Thoracic aortic aneurysmHPO
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HP:0012727
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Unilateral cryptorchidismHPO
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HP:0012741
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Neurodevelopmental delayHPO
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HP:0012758
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Bloody diarrheaHPO
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HP:0025085
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Retinal vasculitisHPO
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HP:0025188
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Diffuse alveolar hemorrhageHPO
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HP:0025420
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Ureterovesical junction obstructionHPO
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HP:0030735
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WheezingHPO
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HP:0030828
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Cellular urinary castsHPO
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HP:0031197
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SialadenitisHPO
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HP:0031281
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Abnormal cranial nerve physiologyHPO
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HP:0031910
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Joint subluxationHPO
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HP:0032153
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Absent pulseHPO
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HP:0032554
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Cutaneous necrosisHPO
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HP:0033126
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Livedo reticularisHPO
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HP:0033505
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Pulmonary noduleHPO
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HP:0033608
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Decreased circulating complement C4 concentrationHPO
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HP:0045042
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Knee joint hypermobilityHPO
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HP:0045086
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Hip joint hypermobilityHPO
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HP:0045087
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ScleritisHPO
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HP:0100532
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EpiscleritisHPO
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HP:0100534
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Spinal cord lesionHPO
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HP:0100561
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MyositisHPO
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HP:0100614
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GangreneHPO
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HP:0100758
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Dural ectasiaHPO
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HP:0100775
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Vasculitis in the skinHPO
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HP:0200029
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Skin ulcerHPO
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HP:0200042
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