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2024-02-10
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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