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2024-02-10		(HP:0030735 absent): Ureterovesical junction obstruction (HP:0031904 absent): Abnormal total hemolytic complement activity (HP:0003249 absent): Genital ulcers (HP:0032957 absent): Dysmorphic hematuria (HP:0033126 absent): Cutaneous necrosis (HP:0033361 absent): Nasal ulcer (HP:0033505 present): Livedo reticularis (HP:0033608 absent): Pulmonary nodule (HP:0004959 absent): Descending thoracic aorta aneurysm (HP:0000006 present): Autosomal dominant inheritance (HP:0000007 absent): Autosomal recessive inheritance (HP:0007822 absent): Central retinal exudate (HP:0007866 absent): Retinal infarction (HP:0012615 absent): Cylindruria (HP:0410042 absent): Abnormal liver morphology (HP:0100532 absent): Scleritis (HP:0100534 absent): Episcleritis (HP:0100561 absent): Spinal cord lesion (HP:0100614 absent): Myositis (HP:0100758 absent): Gangrene (HP:0100775 absent): Dural ectasia (HP:0010293 absent): Aplasia/Hypoplasia of the uvula (HP:0000104 absent): Renal agenesis (HP:0010485 present): Hyperextensibility at elbow (HP:0001065 absent): Striae distensae (HP:0001083 absent): Ectopia lentis (HP:0000107 absent): Renal cyst (HP:0001075 present): Atrophic scars (HP:0010957 absent): Congenital posterior urethral valve (HP:0010958 absent): Bilateral renal agenesis (HP:0001117 absent): Sudden loss of visual acuity (HP:0000113 absent): Polycystic kidney dysplasia (HP:0001142 absent): Lenticonus (HP:0011446 absent): Abnormality of mental function (HP:0001166 absent): Arachnodactyly (HP:0012085 absent): Pyuria (HP:0000122 absent): Unilateral renal agenesis (HP:0012219 absent): Erythema nodosum (HP:0012587 absent): Macroscopic hematuria (HP:0012443 absent): Abnormal brain morphology (HP:0012499 absent): Descending aortic dissection (HP:0001250 absent): Seizure (HP:0012622 absent): Chronic kidney disease (HP:0012636 absent): Retinal vein occlusion (HP:0012727 absent): Thoracic aortic aneurysm (HP:0012741 absent): Unilateral cryptorchidism (HP:0012758 absent): Neurodevelopmental delay (HP:0001287 absent): Meningitis (HP:0001289 absent): Confusion (HP:0001297 absent): Stroke (HP:0001377 absent): Limited elbow extension (HP:0001382 present): Joint hypermobility (HP:0001482 absent): Subcutaneous nodule (HP:0001519 absent): Disproportionate tall stature (HP:0000155 present): Oral ulcer (HP:0001596 absent): Alopecia (HP:0001607 absent): Subglottic stenosis (HP:0001627 absent): Abnormal heart morphology (HP:0001634 absent): Mitral valve prolapse (HP:0001635 absent): Congestive heart failure (HP:0001638 absent): Cardiomyopathy (HP:0001647 absent): Bicuspid aortic valve (HP:0001653 absent): Mitral regurgitation (HP:0001654 absent): Abnormal heart valve morphology (HP:0001659 absent): Aortic regurgitation (HP:0001681 absent): Angina pectoris (HP:0001701 absent): Pericarditis (HP:0000175 absent): Cleft palate (HP:0001763 present): Pes planus (HP:0001824 absent): Weight loss (HP:0001873 absent): Thrombocytopenia (HP:0001882 absent): Leukopenia (HP:0001883 absent): Talipes (HP:0001919 absent): Acute kidney injury (HP:0000193 absent): Bifid uvula (HP:0001945 absent): Fever (HP:0200029 absent): Vasculitis in the skin (HP:0200042 absent): Skin ulcer (HP:0002102 absent): Pleuritis (HP:0002105 absent): Hemoptysis (HP:0002108 absent): Spontaneous pneumothorax (HP:0002113 absent): Pulmonary infiltrates (HP:0000212 present): Gingival overgrowth (HP:0002315 present): Headache (HP:0025085 absent): Bloody diarrhea (HP:0025188 absent): Retinal vasculitis (HP:0025420 absent): Diffuse alveolar hemorrhage (HP:0002616 absent): Aortic root aneurysm (HP:0002619 present): Varicose veins (HP:0002633 absent): Vasculitis (HP:0002647 absent): Aortic dissection (HP:0000268 absent): Dolichocephaly (HP:0002705 present): High, narrow palate (HP:0000272 absent): Malar flattening (HP:0000028 absent): Cryptorchidism (HP:0002878 absent): Respiratory failure (HP:0002907 absent): Microscopic hematuria (HP:0000003 absent): Multicystic kidney dysplasia (HP:0030828 absent): Wheezing (HP:0031197 absent): Cellular urinary casts (HP:0031281 absent): Sialadenitis (HP:0031910 absent): Abnormal cranial nerve physiology (HP:0032153 present): Joint subluxation (HP:0032554 absent): Absent pulse (HP:0003326 present): Myalgia (HP:0003388 present): Easy fatigability (HP:0003493 absent): Antinuclear antibody positivity (HP:0000365 absent): Hearing impairment (HP:0000405 absent): Conductive hearing impairment (HP:0000407 absent): Sensorineural hearing impairment (HP:0000421 absent): Epistaxis (HP:0045042 absent): Decreased circulating complement C4 concentration (HP:0045086 present): Knee joint hypermobility (HP:0045087 present): Hip joint hypermobility (HP:0000479 absent): Abnormal retinal morphology (HP:0000483 absent): Astigmatism (HP:0000486 absent): Strabismus (HP:0000488 absent): Retinopathy (HP:0000491 absent): Keratitis (HP:0004933 absent): Ascending aortic dissection (HP:0004944 absent): Dilatation of the cerebral artery (HP:0004970 absent): Ascending tubular aorta aneurysm (HP:0000498 present): Blepharitis (HP:0000622 present): Blurred vision (HP:0000501 absent): Glaucoma (HP:0005059 present): Arthralgia/arthritis (HP:0000509 present): Conjunctivitis (HP:0005113 absent): Aortic arch aneurysm (HP:0000518 absent): Cataract (HP:0005421 absent): Decreased circulating complement C3 concentration (HP:0000545 present): Myopia (HP:0000554 absent): Uveitis (HP:0005562 absent): Multiple renal cysts (HP:0005619 absent): Thoracolumbar kyphosis (HP:0000563 absent): Keratoconus (HP:0005692 present): Joint hyperflexibility (HP:0000572 absent): Visual loss (HP:0000573 absent): Retinal hemorrhage (HP:0006094 present): Finger joint hypermobility (HP:0006557 absent): Polycystic liver disease (HP:0006687 absent): Aortic tortuosity (HP:0000678 present): Dental crowding (HP:0006824 absent): Cranial nerve paralysis (HP:0000709 absent): Psychosis (HP:0000739 present): Anxiety (HP:0000074 absent): Ureteropelvic junction obstruction (HP:0000076 absent): Vesicoureteral reflux (HP:0000766 absent): Abnormal sternum morphology (HP:0000787 absent): Nephrolithiasis (HP:0000790 absent): Hematuria (HP:0000811 absent): Abnormal external genitalia (HP:0000821 absent): Hypothyroidism (HP:0000822 absent): Hypertension (HP:0008678 absent): Renal hypoplasia/aplasia (HP:0008689 absent): Bilateral cryptorchidism (HP:0000093 absent): Proteinuria (HP:0000974 present): Hyperextensible skin (HP:0000977 present): Soft skin (HP:0000978 present): Bruising susceptibility (HP:0000979 absent): Purpura (HP:0000098 absent): Tall stature
	Ureterovesical junction obstructionHPO	HP:0030735
	Abnormal total hemolytic complement activityHPO	HP:0031904
	Genital ulcersHPO	HP:0003249
	Dysmorphic hematuriaHPO	HP:0032957
	Cutaneous necrosisHPO	HP:0033126
	Nasal ulcerHPO	HP:0033361
	Livedo reticularisHPO	HP:0033505
	Pulmonary noduleHPO	HP:0033608
	Descending thoracic aorta aneurysmHPO	HP:0004959
	Autosomal dominant inheritanceHPO	HP:0000006
	Autosomal recessive inheritanceHPO	HP:0000007
	Central retinal exudateHPO	HP:0007822
	Retinal infarctionHPO	HP:0007866
	CylindruriaHPO	HP:0012615
	Abnormal liver morphologyHPO	HP:0410042
	ScleritisHPO	HP:0100532
	EpiscleritisHPO	HP:0100534
	Spinal cord lesionHPO	HP:0100561
	MyositisHPO	HP:0100614
	GangreneHPO	HP:0100758
	Dural ectasiaHPO	HP:0100775
	Aplasia/Hypoplasia of the uvulaHPO	HP:0010293
	Renal agenesisHPO	HP:0000104
	Hyperextensibility at elbowHPO	HP:0010485
	Striae distensaeHPO	HP:0001065
	Ectopia lentisHPO	HP:0001083
	Renal cystHPO	HP:0000107
	Atrophic scarsHPO	HP:0001075
	Congenital posterior urethral valveHPO	HP:0010957
	Bilateral renal agenesisHPO	HP:0010958
	Sudden loss of visual acuityHPO	HP:0001117
	Polycystic kidney dysplasiaHPO	HP:0000113
	LenticonusHPO	HP:0001142
	Abnormality of mental functionHPO	HP:0011446
	ArachnodactylyHPO	HP:0001166
	PyuriaHPO	HP:0012085
	Unilateral renal agenesisHPO	HP:0000122
	Erythema nodosumHPO	HP:0012219
	Macroscopic hematuriaHPO	HP:0012587
	Abnormal brain morphologyHPO	HP:0012443
	Descending aortic dissectionHPO	HP:0012499
	SeizureHPO	HP:0001250
	Chronic kidney diseaseHPO	HP:0012622
	Retinal vein occlusionHPO	HP:0012636
	Thoracic aortic aneurysmHPO	HP:0012727
	Unilateral cryptorchidismHPO	HP:0012741
	Neurodevelopmental delayHPO	HP:0012758
	MeningitisHPO	HP:0001287
	ConfusionHPO	HP:0001289
	StrokeHPO	HP:0001297
	Limited elbow extensionHPO	HP:0001377
	Joint hypermobilityHPO	HP:0001382
	Subcutaneous noduleHPO	HP:0001482
	Disproportionate tall statureHPO	HP:0001519
	Oral ulcerHPO	HP:0000155
	AlopeciaHPO	HP:0001596
	Subglottic stenosisHPO	HP:0001607
	Abnormal heart morphologyHPO	HP:0001627
	Mitral valve prolapseHPO	HP:0001634
	Congestive heart failureHPO	HP:0001635
	CardiomyopathyHPO	HP:0001638
	Bicuspid aortic valveHPO	HP:0001647
	Mitral regurgitationHPO	HP:0001653
	Abnormal heart valve morphologyHPO	HP:0001654
	Aortic regurgitationHPO	HP:0001659
	Angina pectorisHPO	HP:0001681
	PericarditisHPO	HP:0001701
	Cleft palateHPO	HP:0000175
	Pes planusHPO	HP:0001763
	Weight lossHPO	HP:0001824
	ThrombocytopeniaHPO	HP:0001873
	LeukopeniaHPO	HP:0001882
	TalipesHPO	HP:0001883
	Acute kidney injuryHPO	HP:0001919
	Bifid uvulaHPO	HP:0000193
	FeverHPO	HP:0001945
	Vasculitis in the skinHPO	HP:0200029
	Skin ulcerHPO	HP:0200042
	PleuritisHPO	HP:0002102
	HemoptysisHPO	HP:0002105
	Spontaneous pneumothoraxHPO	HP:0002108
	Pulmonary infiltratesHPO	HP:0002113
	Gingival overgrowthHPO	HP:0000212
	HeadacheHPO	HP:0002315
	Bloody diarrheaHPO	HP:0025085
	Retinal vasculitisHPO	HP:0025188
	Diffuse alveolar hemorrhageHPO	HP:0025420
	Aortic root aneurysmHPO	HP:0002616
	Varicose veinsHPO	HP:0002619
	VasculitisHPO	HP:0002633
	Aortic dissectionHPO	HP:0002647
	DolichocephalyHPO	HP:0000268
	High, narrow palateHPO	HP:0002705
	Malar flatteningHPO	HP:0000272
	CryptorchidismHPO	HP:0000028
	Respiratory failureHPO	HP:0002878
	Microscopic hematuriaHPO	HP:0002907
	Multicystic kidney dysplasiaHPO	HP:0000003
	WheezingHPO	HP:0030828
	Cellular urinary castsHPO	HP:0031197
	SialadenitisHPO	HP:0031281
	Abnormal cranial nerve physiologyHPO	HP:0031910
	Joint subluxationHPO	HP:0032153
	Absent pulseHPO	HP:0032554
	MyalgiaHPO	HP:0003326
	Easy fatigabilityHPO	HP:0003388
	Antinuclear antibody positivityHPO	HP:0003493
	Hearing impairmentHPO	HP:0000365
	Conductive hearing impairmentHPO	HP:0000405
	Sensorineural hearing impairmentHPO	HP:0000407
	EpistaxisHPO	HP:0000421
	Decreased circulating complement C4 concentrationHPO	HP:0045042
	Knee joint hypermobilityHPO	HP:0045086
	Hip joint hypermobilityHPO	HP:0045087
	Abnormal retinal morphologyHPO	HP:0000479
	AstigmatismHPO	HP:0000483
	StrabismusHPO	HP:0000486
	RetinopathyHPO	HP:0000488
	KeratitisHPO	HP:0000491
	Ascending aortic dissectionHPO	HP:0004933
	Dilatation of the cerebral arteryHPO	HP:0004944
	Ascending tubular aorta aneurysmHPO	HP:0004970
	BlepharitisHPO	HP:0000498
	Blurred visionHPO	HP:0000622
	GlaucomaHPO	HP:0000501
	Arthralgia/arthritisHPO	HP:0005059
	ConjunctivitisHPO	HP:0000509
	Aortic arch aneurysmHPO	HP:0005113
	CataractHPO	HP:0000518
	Decreased circulating complement C3 concentrationHPO	HP:0005421
	MyopiaHPO	HP:0000545
	UveitisHPO	HP:0000554
	Multiple renal cystsHPO	HP:0005562
	Thoracolumbar kyphosisHPO	HP:0005619
	KeratoconusHPO	HP:0000563
	Joint hyperflexibilityHPO	HP:0005692
	Visual lossHPO	HP:0000572
	Retinal hemorrhageHPO	HP:0000573
	Finger joint hypermobilityHPO	HP:0006094
	Polycystic liver diseaseHPO	HP:0006557
	Aortic tortuosityHPO	HP:0006687
	Dental crowdingHPO	HP:0000678
	Cranial nerve paralysisHPO	HP:0006824
	PsychosisHPO	HP:0000709
	AnxietyHPO	HP:0000739
	Ureteropelvic junction obstructionHPO	HP:0000074
	Vesicoureteral refluxHPO	HP:0000076
	Abnormal sternum morphologyHPO	HP:0000766
	NephrolithiasisHPO	HP:0000787
	HematuriaHPO	HP:0000790
	Abnormal external genitaliaHPO	HP:0000811
	HypothyroidismHPO	HP:0000821
	HypertensionHPO	HP:0000822
	Renal hypoplasia/aplasiaHPO	HP:0008678
	Bilateral cryptorchidismHPO	HP:0008689
	ProteinuriaHPO	HP:0000093
	Hyperextensible skinHPO	HP:0000974
	Soft skinHPO	HP:0000977
	Bruising susceptibilityHPO	HP:0000978
	PurpuraHPO	HP:0000979
	Tall statureHPO	HP:0000098