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Abnormal brain morphology
HPO
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Abnormal cranial nerve physiology
HPO
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Abnormal external genitalia morphology
HPO
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Abnormal heart morphology
HPO
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Abnormal heart valve morphology
HPO
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Abnormal liver morphology
HPO
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Abnormal retinal morphology
HPO
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Abnormal sternum morphology
HPO
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Abnormal total hemolytic complement activity
HPO
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Abnormality of mental function
HPO
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Absent pulse
HPO
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Acute kidney injury
HPO
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Alopecia
HPO
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Angina pectoris
HPO
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Antinuclear antibody positivity
HPO
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Anxiety
HPO
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Aortic arch aneurysm
HPO
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Aortic dissection
HPO
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Aortic regurgitation
HPO
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Aortic root aneurysm
HPO
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Aortic tortuosity
HPO
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Aplasia/Hypoplasia of the uvula
HPO
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Arachnodactyly
HPO
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Arthralgia/arthritis
HPO
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Ascending aortic dissection
HPO
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Ascending tubular aorta aneurysm
HPO
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Astigmatism
HPO
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Atrophic scars
HPO
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Autosomal dominant inheritance
HPO
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Autosomal recessive inheritance
HPO
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Bicuspid aortic valve
HPO
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Bifid uvula
HPO
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Bilateral cryptorchidism
HPO
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Bilateral renal agenesis
HPO
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Blepharitis
HPO
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Bloody diarrhea
HPO
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Blurred vision
HPO
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Bruising susceptibility
HPO
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Cardiomyopathy
HPO
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Cataract
HPO
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Cellular urinary casts
HPO
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Central retinal exudate
HPO
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Chronic kidney disease
HPO
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Cleft palate
HPO
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Conductive hearing impairment
HPO
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Confusion
HPO
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Congenital posterior urethral valve
HPO
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Congestive heart failure
HPO
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Conjunctivitis
HPO
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Cranial nerve paralysis
HPO
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Cryptorchidism
HPO
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Cutaneous necrosis
HPO
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Cylindruria
HPO
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Decreased circulating complement C3 concentration
HPO
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Decreased circulating complement C4 concentration
HPO
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Decreased total leukocyte count
HPO
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Dental crowding
HPO
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Descending aortic dissection
HPO
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Descending thoracic aorta aneurysm
HPO
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Diffuse alveolar hemorrhage
HPO
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Dilatation of the cerebral artery
HPO
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Disproportionate tall stature
HPO
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Dolichocephaly
HPO
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Dural ectasia
HPO
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Dysmorphic hematuria
HPO
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Easy fatigability
HPO
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Ectopia lentis
HPO
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Episcleritis
HPO
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Epistaxis
HPO
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Erythema nodosum
HPO
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Fever
HPO
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Finger joint hypermobility
HPO
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Gangrene
HPO
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Genital ulcers
HPO
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Gingival overgrowth
HPO
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Glaucoma
HPO
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Headache
HPO
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Hearing impairment
HPO
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Hematuria
HPO
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Hemoptysis
HPO
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High, narrow palate
HPO
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Hip joint hypermobility
HPO
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Hyperextensibility at elbow
HPO
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Hyperextensible skin
HPO
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Hypertension
HPO
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Hypothyroidism
HPO
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Joint hyperflexibility (OBSOLETE, replaced by 'Joint hypermobility')
HPO
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Joint hypermobility
HPO
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Joint subluxation
HPO
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Keratitis
HPO
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Keratoconus
HPO
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Kidney stone
HPO
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Knee joint hypermobility
HPO
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Lenticonus
HPO
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Limited elbow extension
HPO
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Livedo reticularis
HPO
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Macroscopic hematuria
HPO
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Malar flattening
HPO
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Meningitis
HPO
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Microscopic hematuria
HPO
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Mitral regurgitation
HPO
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Mitral valve prolapse
HPO
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Multicystic kidney dysplasia
HPO
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Multiple renal cysts
HPO
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Myalgia
HPO
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Myopia
HPO
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Myositis
HPO
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Nasal ulcer
HPO
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Neurodevelopmental delay
HPO
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Oral ulcer
HPO
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Pericarditis
HPO
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Pes planus
HPO
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Pleuritis
HPO
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Polycystic kidney dysplasia
HPO
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Polycystic liver disease
HPO
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Proteinuria
HPO
|
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Psychosis
HPO
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Pulmonary infiltrates
HPO
|
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Pulmonary nodule
HPO
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Purpura
HPO
|
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Pyuria
HPO
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Renal agenesis
HPO
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Renal cyst
HPO
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Renal hypoplasia/aplasia
HPO
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Respiratory failure
HPO
|
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Retinal hemorrhage
HPO
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Retinal infarction
HPO
|
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Retinal vasculitis
HPO
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Retinal venous occlusion
HPO
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Retinopathy
HPO
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Scleritis
HPO
|
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Seizure
HPO
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Sensorineural hearing impairment
HPO
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Sialadenitis
HPO
|
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Skin ulcer
HPO
|
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Soft skin
HPO
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Spinal cord lesion
HPO
|
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Spontaneous pneumothorax
HPO
|
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Strabismus
HPO
|
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Striae distensae
HPO
|
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Stroke
HPO
|
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Subcutaneous nodule
HPO
|
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Subglottic stenosis
HPO
|
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Sudden loss of visual acuity
HPO
|
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Talipes
HPO
|
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Tall stature
HPO
|
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Thoracic aortic aneurysm
HPO
|
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Thoracolumbar kyphosis
HPO
|
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Thrombocytopenia
HPO
|
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Unilateral cryptorchidism
HPO
|
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Unilateral renal agenesis
HPO
|
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Ureteropelvic junction obstruction
HPO
|
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Ureterovesical junction obstruction
HPO
|
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Uveitis
HPO
|
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Varicose veins
HPO
|
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Vasculitis
HPO
|
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Vasculitis in the skin
HPO
|
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Vesicoureteral reflux
HPO
|
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Visual loss
HPO
|
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Weight loss
HPO
|
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|
Wheezing
HPO
|
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