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2024-02-10
(HP:0012443 absent): Abnormal brain morphology (HP:0031910 absent): Abnormal cranial nerve physiology (HP:0000811 absent): Abnormal external genitalia morphology (HP:0001627 absent): Abnormal heart morphology (HP:0001654 absent): Abnormal heart valve morphology (HP:0410042 absent): Abnormal liver morphology (HP:0000479 absent): Abnormal retinal morphology (HP:0000766 absent): Abnormal sternum morphology (HP:0031904 absent): Abnormal total hemolytic complement activity (HP:0011446 absent): Abnormality of mental function (HP:0032554 absent): Absent pulse (HP:0001919 absent): Acute kidney injury (HP:0001596 absent): Alopecia (HP:0001681 absent): Angina pectoris (HP:0003493 absent): Antinuclear antibody positivity (HP:0000739 present): Anxiety (HP:0005113 absent): Aortic arch aneurysm (HP:0002647 absent): Aortic dissection (HP:0001659 absent): Aortic regurgitation (HP:0002616 absent): Aortic root aneurysm (HP:0006687 absent): Aortic tortuosity (HP:0010293 absent): Aplasia/Hypoplasia of the uvula (HP:0001166 absent): Arachnodactyly (HP:0005059 present): Arthralgia/arthritis (HP:0004933 absent): Ascending aortic dissection (HP:0004970 absent): Ascending tubular aorta aneurysm (HP:0000483 absent): Astigmatism (HP:0001075 present): Atrophic scars (HP:0000006 present): Autosomal dominant inheritance (HP:0000007 absent): Autosomal recessive inheritance (HP:0001647 absent): Bicuspid aortic valve (HP:0000193 absent): Bifid uvula (HP:0008689 absent): Bilateral cryptorchidism (HP:0010958 absent): Bilateral renal agenesis (HP:0000498 present): Blepharitis (HP:0025085 absent): Bloody diarrhea (HP:0000622 present): Blurred vision (HP:0000978 present): Bruising susceptibility (HP:0001638 absent): Cardiomyopathy (HP:0000518 absent): Cataract (HP:0031197 absent): Cellular urinary casts (HP:0007822 absent): Central retinal exudate (HP:0012622 absent): Chronic kidney disease (HP:0000175 absent): Cleft palate (HP:0000405 absent): Conductive hearing impairment (HP:0001289 absent): Confusion (HP:0010957 absent): Congenital posterior urethral valve (HP:0001635 absent): Congestive heart failure (HP:0000509 present): Conjunctivitis (HP:0006824 absent): Cranial nerve paralysis (HP:0000028 absent): Cryptorchidism (HP:0033126 absent): Cutaneous necrosis (HP:0012615 absent): Cylindruria (HP:0005421 absent): Decreased circulating complement C3 concentration (HP:0045042 absent): Decreased circulating complement C4 concentration (HP:0001882 absent): Decreased total leukocyte count (HP:0000678 present): Dental crowding (HP:0012499 absent): Descending aortic dissection (HP:0004959 absent): Descending thoracic aorta aneurysm (HP:0025420 absent): Diffuse alveolar hemorrhage (HP:0004944 absent): Dilatation of the cerebral artery (HP:0001519 absent): Disproportionate tall stature (HP:0000268 absent): Dolichocephaly (HP:0100775 absent): Dural ectasia (HP:0032957 absent): Dysmorphic hematuria (HP:0003388 present): Easy fatigability (HP:0001083 absent): Ectopia lentis (HP:0100534 absent): Episcleritis (HP:0000421 absent): Epistaxis (HP:0012219 absent): Erythema nodosum (HP:0001945 absent): Fever (HP:0006094 present): Finger joint hypermobility (HP:0100758 absent): Gangrene (HP:0003249 absent): Genital ulcers (HP:0000212 present): Gingival overgrowth (HP:0000501 absent): Glaucoma (HP:0002315 present): Headache (HP:0000365 absent): Hearing impairment (HP:0000790 absent): Hematuria (HP:0002105 absent): Hemoptysis (HP:0002705 present): High, narrow palate (HP:0045087 present): Hip joint hypermobility (HP:0010485 present): Hyperextensibility at elbow (HP:0000974 present): Hyperextensible skin (HP:0000822 absent): Hypertension (HP:0000821 absent): Hypothyroidism (HP:0005692 present): Joint hyperflexibility (OBSOLETE, replaced by 'Joint hypermobility') (HP:0001382 present): Joint hypermobility (HP:0032153 present): Joint subluxation (HP:0000491 absent): Keratitis (HP:0000563 absent): Keratoconus (HP:0045086 present): Knee joint hypermobility (HP:0001142 absent): Lenticonus (HP:0001377 absent): Limited elbow extension (HP:0033505 present): Livedo reticularis (HP:0012587 absent): Macroscopic hematuria (HP:0000272 absent): Malar flattening (HP:0001287 absent): Meningitis (HP:0002907 absent): Microscopic hematuria (HP:0001653 absent): Mitral regurgitation (HP:0001634 absent): Mitral valve prolapse (HP:0000003 absent): Multicystic kidney dysplasia (HP:0005562 absent): Multiple renal cysts (HP:0003326 present): Myalgia (HP:0000545 present): Myopia (HP:0100614 absent): Myositis (HP:0033361 absent): Nasal ulcer (HP:0000787 absent): Nephrolithiasis (HP:0012758 absent): Neurodevelopmental delay (HP:0000155 present): Oral ulcer (HP:0001701 absent): Pericarditis (HP:0001763 present): Pes planus (HP:0002102 absent): Pleuritis (HP:0000113 absent): Polycystic kidney dysplasia (HP:0006557 absent): Polycystic liver disease (HP:0000093 absent): Proteinuria (HP:0000709 absent): Psychosis (HP:0002113 absent): Pulmonary infiltrates (HP:0033608 absent): Pulmonary nodule (HP:0000979 absent): Purpura (HP:0012085 absent): Pyuria (HP:0000104 absent): Renal agenesis (HP:0000107 absent): Renal cyst (HP:0008678 absent): Renal hypoplasia/aplasia (HP:0002878 absent): Respiratory failure (HP:0000573 absent): Retinal hemorrhage (HP:0007866 absent): Retinal infarction (HP:0025188 absent): Retinal vasculitis (HP:0012636 absent): Retinal vein occlusion (HP:0000488 absent): Retinopathy (HP:0100532 absent): Scleritis (HP:0001250 absent): Seizure (HP:0000407 absent): Sensorineural hearing impairment (HP:0031281 absent): Sialadenitis (HP:0200042 absent): Skin ulcer (HP:0000977 present): Soft skin (HP:0100561 absent): Spinal cord lesion (HP:0002108 absent): Spontaneous pneumothorax (HP:0000486 absent): Strabismus (HP:0001065 absent): Striae distensae (HP:0001297 absent): Stroke (HP:0001482 absent): Subcutaneous nodule (HP:0001607 absent): Subglottic stenosis (HP:0001117 absent): Sudden loss of visual acuity (HP:0001883 absent): Talipes (HP:0000098 absent): Tall stature (HP:0012727 absent): Thoracic aortic aneurysm (HP:0005619 absent): Thoracolumbar kyphosis (HP:0001873 absent): Thrombocytopenia (HP:0012741 absent): Unilateral cryptorchidism (HP:0000122 absent): Unilateral renal agenesis (HP:0000074 absent): Ureteropelvic junction obstruction (HP:0030735 absent): Ureterovesical junction obstruction (HP:0000554 absent): Uveitis (HP:0002619 present): Varicose veins (HP:0002633 absent): Vasculitis (HP:0200029 absent): Vasculitis in the skin (HP:0000076 absent): Vesicoureteral reflux (HP:0000572 absent): Visual loss (HP:0001824 absent): Weight loss (HP:0030828 absent): Wheezing
Abnormal brain morphology
HPO
HP:0012443
Abnormal cranial nerve physiology
HPO
HP:0031910
Abnormal external genitalia morphology
HPO
HP:0000811
Abnormal heart morphology
HPO
HP:0001627
Abnormal heart valve morphology
HPO
HP:0001654
Abnormal liver morphology
HPO
HP:0410042
Abnormal retinal morphology
HPO
HP:0000479
Abnormal sternum morphology
HPO
HP:0000766
Abnormal total hemolytic complement activity
HPO
HP:0031904
Abnormality of mental function
HPO
HP:0011446
Absent pulse
HPO
HP:0032554
Acute kidney injury
HPO
HP:0001919
Alopecia
HPO
HP:0001596
Angina pectoris
HPO
HP:0001681
Antinuclear antibody positivity
HPO
HP:0003493
Anxiety
HPO
HP:0000739
Aortic arch aneurysm
HPO
HP:0005113
Aortic dissection
HPO
HP:0002647
Aortic regurgitation
HPO
HP:0001659
Aortic root aneurysm
HPO
HP:0002616
Aortic tortuosity
HPO
HP:0006687
Aplasia/Hypoplasia of the uvula
HPO
HP:0010293
Arachnodactyly
HPO
HP:0001166
Arthralgia/arthritis
HPO
HP:0005059
Ascending aortic dissection
HPO
HP:0004933
Ascending tubular aorta aneurysm
HPO
HP:0004970
Astigmatism
HPO
HP:0000483
Atrophic scars
HPO
HP:0001075
Autosomal dominant inheritance
HPO
HP:0000006
Autosomal recessive inheritance
HPO
HP:0000007
Bicuspid aortic valve
HPO
HP:0001647
Bifid uvula
HPO
HP:0000193
Bilateral cryptorchidism
HPO
HP:0008689
Bilateral renal agenesis
HPO
HP:0010958
Blepharitis
HPO
HP:0000498
Bloody diarrhea
HPO
HP:0025085
Blurred vision
HPO
HP:0000622
Bruising susceptibility
HPO
HP:0000978
Cardiomyopathy
HPO
HP:0001638
Cataract
HPO
HP:0000518
Cellular urinary casts
HPO
HP:0031197
Central retinal exudate
HPO
HP:0007822
Chronic kidney disease
HPO
HP:0012622
Cleft palate
HPO
HP:0000175
Conductive hearing impairment
HPO
HP:0000405
Confusion
HPO
HP:0001289
Congenital posterior urethral valve
HPO
HP:0010957
Congestive heart failure
HPO
HP:0001635
Conjunctivitis
HPO
HP:0000509
Cranial nerve paralysis
HPO
HP:0006824
Cryptorchidism
HPO
HP:0000028
Cutaneous necrosis
HPO
HP:0033126
Cylindruria
HPO
HP:0012615
Decreased circulating complement C3 concentration
HPO
HP:0005421
Decreased circulating complement C4 concentration
HPO
HP:0045042
Decreased total leukocyte count
HPO
HP:0001882
Dental crowding
HPO
HP:0000678
Descending aortic dissection
HPO
HP:0012499
Descending thoracic aorta aneurysm
HPO
HP:0004959
Diffuse alveolar hemorrhage
HPO
HP:0025420
Dilatation of the cerebral artery
HPO
HP:0004944
Disproportionate tall stature
HPO
HP:0001519
Dolichocephaly
HPO
HP:0000268
Dural ectasia
HPO
HP:0100775
Dysmorphic hematuria
HPO
HP:0032957
Easy fatigability
HPO
HP:0003388
Ectopia lentis
HPO
HP:0001083
Episcleritis
HPO
HP:0100534
Epistaxis
HPO
HP:0000421
Erythema nodosum
HPO
HP:0012219
Fever
HPO
HP:0001945
Finger joint hypermobility
HPO
HP:0006094
Gangrene
HPO
HP:0100758
Genital ulcers
HPO
HP:0003249
Gingival overgrowth
HPO
HP:0000212
Glaucoma
HPO
HP:0000501
Headache
HPO
HP:0002315
Hearing impairment
HPO
HP:0000365
Hematuria
HPO
HP:0000790
Hemoptysis
HPO
HP:0002105
High, narrow palate
HPO
HP:0002705
Hip joint hypermobility
HPO
HP:0045087
Hyperextensibility at elbow
HPO
HP:0010485
Hyperextensible skin
HPO
HP:0000974
Hypertension
HPO
HP:0000822
Hypothyroidism
HPO
HP:0000821
Joint hyperflexibility (OBSOLETE, replaced by 'Joint hypermobility')
HPO
HP:0005692
Joint hypermobility
HPO
HP:0001382
Joint subluxation
HPO
HP:0032153
Keratitis
HPO
HP:0000491
Keratoconus
HPO
HP:0000563
Knee joint hypermobility
HPO
HP:0045086
Lenticonus
HPO
HP:0001142
Limited elbow extension
HPO
HP:0001377
Livedo reticularis
HPO
HP:0033505
Macroscopic hematuria
HPO
HP:0012587
Malar flattening
HPO
HP:0000272
Meningitis
HPO
HP:0001287
Microscopic hematuria
HPO
HP:0002907
Mitral regurgitation
HPO
HP:0001653
Mitral valve prolapse
HPO
HP:0001634
Multicystic kidney dysplasia
HPO
HP:0000003
Multiple renal cysts
HPO
HP:0005562
Myalgia
HPO
HP:0003326
Myopia
HPO
HP:0000545
Myositis
HPO
HP:0100614
Nasal ulcer
HPO
HP:0033361
Nephrolithiasis
HPO
HP:0000787
Neurodevelopmental delay
HPO
HP:0012758
Oral ulcer
HPO
HP:0000155
Pericarditis
HPO
HP:0001701
Pes planus
HPO
HP:0001763
Pleuritis
HPO
HP:0002102
Polycystic kidney dysplasia
HPO
HP:0000113
Polycystic liver disease
HPO
HP:0006557
Proteinuria
HPO
HP:0000093
Psychosis
HPO
HP:0000709
Pulmonary infiltrates
HPO
HP:0002113
Pulmonary nodule
HPO
HP:0033608
Purpura
HPO
HP:0000979
Pyuria
HPO
HP:0012085
Renal agenesis
HPO
HP:0000104
Renal cyst
HPO
HP:0000107
Renal hypoplasia/aplasia
HPO
HP:0008678
Respiratory failure
HPO
HP:0002878
Retinal hemorrhage
HPO
HP:0000573
Retinal infarction
HPO
HP:0007866
Retinal vasculitis
HPO
HP:0025188
Retinal vein occlusion
HPO
HP:0012636
Retinopathy
HPO
HP:0000488
Scleritis
HPO
HP:0100532
Seizure
HPO
HP:0001250
Sensorineural hearing impairment
HPO
HP:0000407
Sialadenitis
HPO
HP:0031281
Skin ulcer
HPO
HP:0200042
Soft skin
HPO
HP:0000977
Spinal cord lesion
HPO
HP:0100561
Spontaneous pneumothorax
HPO
HP:0002108
Strabismus
HPO
HP:0000486
Striae distensae
HPO
HP:0001065
Stroke
HPO
HP:0001297
Subcutaneous nodule
HPO
HP:0001482
Subglottic stenosis
HPO
HP:0001607
Sudden loss of visual acuity
HPO
HP:0001117
Talipes
HPO
HP:0001883
Tall stature
HPO
HP:0000098
Thoracic aortic aneurysm
HPO
HP:0012727
Thoracolumbar kyphosis
HPO
HP:0005619
Thrombocytopenia
HPO
HP:0001873
Unilateral cryptorchidism
HPO
HP:0012741
Unilateral renal agenesis
HPO
HP:0000122
Ureteropelvic junction obstruction
HPO
HP:0000074
Ureterovesical junction obstruction
HPO
HP:0030735
Uveitis
HPO
HP:0000554
Varicose veins
HPO
HP:0002619
Vasculitis
HPO
HP:0002633
Vasculitis in the skin
HPO
HP:0200029
Vesicoureteral reflux
HPO
HP:0000076
Visual loss
HPO
HP:0000572
Weight loss
HPO
HP:0001824
Wheezing
HPO
HP:0030828
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