{"hpo_term_id":"HP:0000003","hpo_term_name":"Multicystic kidney dysplasia","phecode":"586.2","phecode_name":"Cyst of kidney, acquired"} {"hpo_term_id":"HP:0000010","hpo_term_name":"Recurrent urinary tract infections","phecode":"591","phecode_name":"Urinary tract infection"} {"hpo_term_id":"HP:0000011","hpo_term_name":"Neurogenic bladder","phecode":"596.5","phecode_name":"Functional disorders of bladder"} {"hpo_term_id":"HP:0000012","hpo_term_name":"Urinary urgency","phecode":"599.9","phecode_name":"Other abnormality of urination"} {"hpo_term_id":"HP:0000013","hpo_term_name":"Hypoplasia of the uterus","phecode":"751.11","phecode_name":"Congenital anomalies of female genital organs"} {"hpo_term_id":"HP:0000015","hpo_term_name":"Bladder diverticulum","phecode":"596","phecode_name":"Other disorders of bladder"} {"hpo_term_id":"HP:0000016","hpo_term_name":"Urinary retention","phecode":"599.2","phecode_name":"Retention of urine"} {"hpo_term_id":"HP:0000017","hpo_term_name":"Nocturia","phecode":"599.5","phecode_name":"Frequency of urination and polyuria"} {"hpo_term_id":"HP:0000020","hpo_term_name":"Urinary incontinence","phecode":"599.4","phecode_name":"Urinary incontinence"} {"hpo_term_id":"HP:0000021","hpo_term_name":"Megacystis","phecode":"751.2","phecode_name":"Congenital anomalies of urinary system"} {"hpo_term_id":"HP:0000022","hpo_term_name":"Abnormality of male internal genitalia","phecode":"751.12","phecode_name":"Congenital anomalies of male genital organs"} {"hpo_term_id":"HP:0000023","hpo_term_name":"Inguinal hernia","phecode":"550.1","phecode_name":"Inguinal hernia"} {"hpo_term_id":"HP:0000024","hpo_term_name":"Prostatitis","phecode":"601.1","phecode_name":"Prostatitis"} {"hpo_term_id":"HP:0000026","hpo_term_name":"Male hypogonadism","phecode":"257.1","phecode_name":"Testicular hypofunction"} {"hpo_term_id":"HP:0000027","hpo_term_name":"Azoospermia","phecode":"609.11","phecode_name":"Azoospermia 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{"hpo_term_id":"HP:0000041","hpo_term_name":"Chordee","phecode":"751.12","phecode_name":"Congenital anomalies of male genital organs"} {"hpo_term_id":"HP:0000044","hpo_term_name":"Hypogonadotrophic hypogonadism","phecode":"253.4","phecode_name":"Anterior pituitary disorders"} {"hpo_term_id":"HP:0000046","hpo_term_name":"Scrotal hypoplasia","phecode":"751.1","phecode_name":"Congenital anomalies of genital organs"} {"hpo_term_id":"HP:0000047","hpo_term_name":"Hypospadias","phecode":"751.12","phecode_name":"Congenital anomalies of male genital organs"} {"hpo_term_id":"HP:0000048","hpo_term_name":"Bifid scrotum","phecode":"751.12","phecode_name":"Congenital anomalies of male genital organs"} {"hpo_term_id":"HP:0000049","hpo_term_name":"Shawl scrotum","phecode":"751.12","phecode_name":"Congenital anomalies of male genital organs"} {"hpo_term_id":"HP:0000050","hpo_term_name":"Hypoplastic male external genitalia","phecode":"751.12","phecode_name":"Congenital anomalies of male genital organs"} {"hpo_term_id":"HP:0000051","hpo_term_name":"Perineal hypospadias","phecode":"751.12","phecode_name":"Congenital anomalies of male genital organs"} {"hpo_term_id":"HP:0000054","hpo_term_name":"Micropenis","phecode":"751.12","phecode_name":"Congenital anomalies of male genital organs"} {"hpo_term_id":"HP:0000059","hpo_term_name":"Hypoplastic labia majora","phecode":"751.11","phecode_name":"Congenital anomalies of female genital organs"} {"hpo_term_id":"HP:0000060","hpo_term_name":"Clitoral hypoplasia","phecode":"751.11","phecode_name":"Congenital anomalies of female genital organs"} {"hpo_term_id":"HP:0000061","hpo_term_name":"Ambiguous genitalia, female","phecode":"751.11","phecode_name":"Congenital anomalies of female genital organs"} {"hpo_term_id":"HP:0000062","hpo_term_name":"Ambiguous genitalia","phecode":"751.1","phecode_name":"Congenital anomalies of genital organs"} {"hpo_term_id":"HP:0000063","hpo_term_name":"Fused labia minora","phecode":"751.11","phecode_name":"Congenital 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{"hpo_term_id":"HP:0000072","hpo_term_name":"Hydroureter","phecode":"586.4","phecode_name":"Stricture/obstruction of ureter"} {"hpo_term_id":"HP:0000073","hpo_term_name":"Ureteral duplication","phecode":"751.2","phecode_name":"Congenital anomalies of urinary system"} {"hpo_term_id":"HP:0000074","hpo_term_name":"Ureteropelvic junction obstruction","phecode":"586.4","phecode_name":"Stricture/obstruction of ureter"} {"hpo_term_id":"HP:0000075","hpo_term_name":"Renal duplication","phecode":"751.22","phecode_name":"Other specified congenital anomalies of kidney"} {"hpo_term_id":"HP:0000076","hpo_term_name":"Vesicoureteral reflux","phecode":"586.12","phecode_name":"Vesicoureteral reflux"} {"hpo_term_id":"HP:0000081","hpo_term_name":"Duplicated collecting system","phecode":"751.22","phecode_name":"Other specified congenital anomalies of kidney"} {"hpo_term_id":"HP:0000083","hpo_term_name":"Renal insufficiency","phecode":"585.2","phecode_name":"Renal failure NOS"} {"hpo_term_id":"HP:0000085","hpo_term_name":"Horseshoe kidney","phecode":"751.22","phecode_name":"Other specified congenital anomalies of kidney"} {"hpo_term_id":"HP:0000086","hpo_term_name":"Ectopic kidney","phecode":"751.22","phecode_name":"Other specified congenital anomalies of kidney"} {"hpo_term_id":"HP:0000089","hpo_term_name":"Renal hypoplasia","phecode":"586.11","phecode_name":"Small kidney"} {"hpo_term_id":"HP:0000090","hpo_term_name":"Nephronophthisis","phecode":"751.21","phecode_name":"Cystic kidney disease"} {"hpo_term_id":"HP:0000093","hpo_term_name":"Proteinuria","phecode":"269","phecode_name":"Proteinuria"} {"hpo_term_id":"HP:0000096","hpo_term_name":"Glomerulosclerosis","phecode":"580.12","phecode_name":"Non-proliferative glomerulonephritis"} {"hpo_term_id":"HP:0000097","hpo_term_name":"Focal segmental glomerulosclerosis","phecode":"580.12","phecode_name":"Non-proliferative glomerulonephritis"} {"hpo_term_id":"HP:0000098","hpo_term_name":"Tall 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{"hpo_term_id":"HP:0000110","hpo_term_name":"Renal dysplasia","phecode":"751.21","phecode_name":"Cystic kidney disease"} {"hpo_term_id":"HP:0000111","hpo_term_name":"Renal juxtaglomerular cell hypertrophy/hyperplasia","phecode":"586.3","phecode_name":"Vascular disorders of kidney/hypertrophy"} {"hpo_term_id":"HP:0000112","hpo_term_name":"Nephropathy","phecode":"580","phecode_name":"Nephritis; nephrosis; renal sclerosis"} {"hpo_term_id":"HP:0000113","hpo_term_name":"Polycystic kidney dysplasia","phecode":"751.21","phecode_name":"Cystic kidney disease"} {"hpo_term_id":"HP:0000117","hpo_term_name":"Renal phosphate wasting","phecode":"588","phecode_name":"Disorders resulting from impaired renal function"} {"hpo_term_id":"HP:0000121","hpo_term_name":"Nephrocalcinosis","phecode":"275.5","phecode_name":"Disorders of calcium/phosphorus metabolism"} {"hpo_term_id":"HP:0000122","hpo_term_name":"Unilateral renal agenesis","phecode":"751.22","phecode_name":"Other specified congenital anomalies of 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{"hpo_term_id":"HP:0000131","hpo_term_name":"Uterine leiomyoma","phecode":"218.1","phecode_name":"Uterine leiomyoma"} {"hpo_term_id":"HP:0000132","hpo_term_name":"Menorrhagia","phecode":"627.4","phecode_name":"Premenopausal menorrhagia"} {"hpo_term_id":"HP:0000134","hpo_term_name":"Female hypogonadism","phecode":"627.5","phecode_name":"Premature menopause and other ovarian failure"} {"hpo_term_id":"HP:0000135","hpo_term_name":"Hypogonadism","phecode":"257.1","phecode_name":"Testicular hypofunction"} {"hpo_term_id":"HP:0000138","hpo_term_name":"Ovarian cyst","phecode":"628","phecode_name":"Ovarian cyst"} {"hpo_term_id":"HP:0000139","hpo_term_name":"Uterine prolapse","phecode":"618.2","phecode_name":"Uterine/Uterovaginal prolapse"} {"hpo_term_id":"HP:0000140","hpo_term_name":"Abnormality of the menstrual cycle","phecode":"626.1","phecode_name":"Irregular menstrual cycle/bleeding"} {"hpo_term_id":"HP:0000141","hpo_term_name":"Amenorrhea","phecode":"626.11","phecode_name":"Absent or 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{"hpo_term_id":"HP:0000212","hpo_term_name":"Gingival overgrowth","phecode":"523","phecode_name":"Gingival and periodontal diseases"} {"hpo_term_id":"HP:0000214","hpo_term_name":"Lip telangiectasia","phecode":"217.1","phecode_name":"Nevus, non-neoplastic"} {"hpo_term_id":"HP:0000217","hpo_term_name":"Xerostomia","phecode":"527.7","phecode_name":"Disturbance of salivary secretion"} {"hpo_term_id":"HP:0000218","hpo_term_name":"High palate","phecode":"750.13","phecode_name":"Congenital anomalies of mouth/tongue"} {"hpo_term_id":"HP:0000220","hpo_term_name":"Velopharyngeal insufficiency","phecode":"750.13","phecode_name":"Congenital anomalies of mouth/tongue"} {"hpo_term_id":"HP:0000221","hpo_term_name":"Furrowed tongue","phecode":"529","phecode_name":"Diseases and other conditions of the tongue"} {"hpo_term_id":"HP:0000222","hpo_term_name":"Gingival hyperkeratosis","phecode":"523","phecode_name":"Gingival and periodontal diseases"} {"hpo_term_id":"HP:0000224","hpo_term_name":"Decreased 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{"hpo_term_id":"HP:0000248","hpo_term_name":"Brachycephaly","phecode":"749.2","phecode_name":"Congenital anomalies of skull and face bones"} {"hpo_term_id":"HP:0000252","hpo_term_name":"Microcephaly","phecode":"752.2","phecode_name":"Other specified congenital anomalies of nervous system"} {"hpo_term_id":"HP:0000253","hpo_term_name":"Progressive microcephaly","phecode":"752.2","phecode_name":"Other specified congenital anomalies of nervous system"} {"hpo_term_id":"HP:0000256","hpo_term_name":"Macrocephaly","phecode":"749.2","phecode_name":"Congenital anomalies of skull and face bones"} {"hpo_term_id":"HP:0000262","hpo_term_name":"Turricephaly","phecode":"749.2","phecode_name":"Congenital anomalies of skull and face bones"} {"hpo_term_id":"HP:0000263","hpo_term_name":"Oxycephaly","phecode":"749.2","phecode_name":"Congenital anomalies of skull and face bones"} {"hpo_term_id":"HP:0000265","hpo_term_name":"Mastoiditis","phecode":"381.3","phecode_name":"Mastoiditis & related conditions"} {"hpo_term_id":"HP:0000267","hpo_term_name":"Cranial asymmetry","phecode":"749.2","phecode_name":"Congenital anomalies of skull and face bones"} {"hpo_term_id":"HP:0000268","hpo_term_name":"Dolichocephaly","phecode":"749","phecode_name":"Congenital anomalies of face and neck"} {"hpo_term_id":"HP:0000278","hpo_term_name":"Retrognathia","phecode":"526.3","phecode_name":"Anomalies of jaw size/symmetry"} {"hpo_term_id":"HP:0000282","hpo_term_name":"Facial edema","phecode":"782.3","phecode_name":"Edema"} {"hpo_term_id":"HP:0000297","hpo_term_name":"Facial hypotonia","phecode":"358","phecode_name":"Myoneural disorders"} {"hpo_term_id":"HP:0000303","hpo_term_name":"Mandibular prognathia","phecode":"526.3","phecode_name":"Anomalies of jaw size/symmetry"} {"hpo_term_id":"HP:0000308","hpo_term_name":"Microretrognathia","phecode":"526.3","phecode_name":"Anomalies of jaw size/symmetry"} {"hpo_term_id":"HP:0000316","hpo_term_name":"Hypertelorism","phecode":"376","phecode_name":"Disorders of the orbit"} {"hpo_term_id":"HP:0000317","hpo_term_name":"Facial myokymia","phecode":"352.2","phecode_name":"Facial nerve disorders [CN7]"} {"hpo_term_id":"HP:0000327","hpo_term_name":"Hypoplasia of the maxilla","phecode":"526.3","phecode_name":"Anomalies of jaw size/symmetry"} {"hpo_term_id":"HP:0000329","hpo_term_name":"Facial hemangioma","phecode":"228.1","phecode_name":"Hemangioma of skin and subcutaneous tissue"} {"hpo_term_id":"HP:0000347","hpo_term_name":"Micrognathia","phecode":"526.3","phecode_name":"Anomalies of jaw size/symmetry"} {"hpo_term_id":"HP:0000356","hpo_term_name":"Abnormality of the outer ear","phecode":"749","phecode_name":"Congenital anomalies of face and neck"} {"hpo_term_id":"HP:0000360","hpo_term_name":"Tinnitus","phecode":"389.4","phecode_name":"Tinnitus"} {"hpo_term_id":"HP:0000362","hpo_term_name":"Otosclerosis","phecode":"383","phecode_name":"Otosclerosis"} {"hpo_term_id":"HP:0000365","hpo_term_name":"Hearing impairment","phecode":"389","phecode_name":"Hearing loss"} {"hpo_term_id":"HP:0000381","hpo_term_name":"Stapes ankylosis","phecode":"741.1","phecode_name":"Ankylosis of joint"} {"hpo_term_id":"HP:0000384","hpo_term_name":"Preauricular skin tag","phecode":"749","phecode_name":"Congenital anomalies of face and neck"} {"hpo_term_id":"HP:0000388","hpo_term_name":"Otitis media","phecode":"381.1","phecode_name":"Otitis media"} {"hpo_term_id":"HP:0000389","hpo_term_name":"Chronic otitis media","phecode":"381.1","phecode_name":"Otitis media"} {"hpo_term_id":"HP:0000394","hpo_term_name":"Lop ear","phecode":"749","phecode_name":"Congenital anomalies of face and neck"} {"hpo_term_id":"HP:0000400","hpo_term_name":"Macrotia","phecode":"749","phecode_name":"Congenital anomalies of face and neck"} {"hpo_term_id":"HP:0000402","hpo_term_name":"Stenosis of the external auditory canal","phecode":"380","phecode_name":"Disorders of external ear"} {"hpo_term_id":"HP:0000403","hpo_term_name":"Recurrent otitis media","phecode":"381.1","phecode_name":"Otitis 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{"hpo_term_id":"HP:0001541","hpo_term_name":"Ascites","phecode":"572","phecode_name":"Ascites (non malignant)"} {"hpo_term_id":"HP:0001543","hpo_term_name":"Gastroschisis","phecode":"756.1","phecode_name":"Congenital anomalies of abdominal wall; diaphram"} {"hpo_term_id":"HP:0001545","hpo_term_name":"Anteriorly placed anus","phecode":"750.2","phecode_name":"Lower gastrointestinal congenital anomalies"} {"hpo_term_id":"HP:0001547","hpo_term_name":"Abnormality of the rib cage","phecode":"756.2","phecode_name":"Pectus and other congenital anomalies of ribs/sternum"} {"hpo_term_id":"HP:0001552","hpo_term_name":"Barrel-shaped chest","phecode":"756.2","phecode_name":"Pectus and other congenital anomalies of ribs/sternum"} {"hpo_term_id":"HP:0001555","hpo_term_name":"Asymmetry of the thorax","phecode":"756.2","phecode_name":"Pectus and other congenital anomalies of ribs/sternum"} {"hpo_term_id":"HP:0001571","hpo_term_name":"Multiple impacted 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{"hpo_term_id":"HP:0001710","hpo_term_name":"Conotruncal defect","phecode":"747.1","phecode_name":"Cardiac congenital anomalies"} {"hpo_term_id":"HP:0001712","hpo_term_name":"Left ventricular hypertrophy","phecode":"416","phecode_name":"Cardiomegaly"} {"hpo_term_id":"HP:0001714","hpo_term_name":"Ventricular hypertrophy","phecode":"416","phecode_name":"Cardiomegaly"} {"hpo_term_id":"HP:0001716","hpo_term_name":"Wolff-Parkinson-White syndrome","phecode":"426.4","phecode_name":"Anomalous atrioventricular excitation"} {"hpo_term_id":"HP:0001717","hpo_term_name":"Coronary artery calcification","phecode":"411.4","phecode_name":"Coronary atherosclerosis"} {"hpo_term_id":"HP:0001718","hpo_term_name":"Mitral stenosis","phecode":"394.2","phecode_name":"Mitral valve disease"} {"hpo_term_id":"HP:0001719","hpo_term_name":"Double outlet right ventricle","phecode":"747.11","phecode_name":"Cardiac shunt/ heart septal defect"} {"hpo_term_id":"HP:0001722","hpo_term_name":"High-output congestive heart 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pancreatitis"} {"hpo_term_id":"HP:0001737","hpo_term_name":"Pancreatic cysts","phecode":"577.3","phecode_name":"Cyst and pseudocyst of pancreas"} {"hpo_term_id":"HP:0001738","hpo_term_name":"Exocrine pancreatic insufficiency","phecode":"577","phecode_name":"Diseases of pancreas"} {"hpo_term_id":"HP:0001741","hpo_term_name":"Phimosis","phecode":"604.1","phecode_name":"Redundant prepuce and phimosis/BXO"} {"hpo_term_id":"HP:0001742","hpo_term_name":"Nasal obstruction","phecode":"479","phecode_name":"Other upper respiratory disease"} {"hpo_term_id":"HP:0001744","hpo_term_name":"Splenomegaly","phecode":"579.2","phecode_name":"Splenomegaly"} {"hpo_term_id":"HP:0001750","hpo_term_name":"Single ventricle","phecode":"747.11","phecode_name":"Cardiac shunt/ heart septal defect"} {"hpo_term_id":"HP:0001751","hpo_term_name":"Vestibular dysfunction","phecode":"386","phecode_name":"Vertiginous syndromes and other disorders of vestibular system"} 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{"hpo_term_id":"HP:0002936","hpo_term_name":"Distal sensory impairment","phecode":"687.4","phecode_name":"Disturbance of skin sensation"} {"hpo_term_id":"HP:0002937","hpo_term_name":"Hemivertebrae","phecode":"754","phecode_name":"Congenital musculoskeletal deformities of spine"} {"hpo_term_id":"HP:0002938","hpo_term_name":"Lumbar hyperlordosis","phecode":"737.2","phecode_name":"Lordosis (acquired)"} {"hpo_term_id":"HP:0002942","hpo_term_name":"Thoracic kyphosis","phecode":"737","phecode_name":"Curvature of spine"} {"hpo_term_id":"HP:0002943","hpo_term_name":"Thoracic scoliosis","phecode":"737.3","phecode_name":"Kyphoscoliosis and scoliosis"} {"hpo_term_id":"HP:0002944","hpo_term_name":"Thoracolumbar scoliosis","phecode":"737.3","phecode_name":"Kyphoscoliosis and scoliosis"} {"hpo_term_id":"HP:0002947","hpo_term_name":"Cervical kyphosis","phecode":"737.1","phecode_name":"Kyphosis (acquired)"} {"hpo_term_id":"HP:0002948","hpo_term_name":"Vertebral 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{"hpo_term_id":"HP:0003005","hpo_term_name":"Ganglioneuroma","phecode":"215","phecode_name":"Other benign neoplasm of connective and other soft tissue"} {"hpo_term_id":"HP:0003006","hpo_term_name":"Neuroblastoma","phecode":"194","phecode_name":"Cancer of other endocrine glands"} {"hpo_term_id":"HP:0003010","hpo_term_name":"Prolonged bleeding time","phecode":"286.9","phecode_name":"Abnormal coagulation profile"} {"hpo_term_id":"HP:0003022","hpo_term_name":"Hypoplasia of the ulna","phecode":"755.4","phecode_name":"Congenital anomalies of upper limb, including shoulder girdle"} {"hpo_term_id":"HP:0003023","hpo_term_name":"Bowing of limbs due to multiple fractures","phecode":"736","phecode_name":"Other acquired deformities of limbs"} {"hpo_term_id":"HP:0003027","hpo_term_name":"Mesomelia","phecode":"755","phecode_name":"Congenital anomalies of limbs"} {"hpo_term_id":"HP:0003031","hpo_term_name":"Ulnar bowing","phecode":"736.1","phecode_name":"Acquired deformities of forearm"} {"hpo_term_id":"HP:0003038","hpo_term_name":"Fibular hypoplasia","phecode":"755.6","phecode_name":"Other congenital anomalies of lower limb, including pelvic girdle"} {"hpo_term_id":"HP:0003040","hpo_term_name":"Arthropathy","phecode":"716","phecode_name":"Other arthropathies"} {"hpo_term_id":"HP:0003041","hpo_term_name":"Humeroradial synostosis","phecode":"756.5","phecode_name":"Congenital osteodystrophies"} {"hpo_term_id":"HP:0003042","hpo_term_name":"Elbow dislocation","phecode":"830","phecode_name":"Dislocation"} {"hpo_term_id":"HP:0003044","hpo_term_name":"Shoulder flexion contracture","phecode":"739","phecode_name":"Contracture of joint"} {"hpo_term_id":"HP:0003048","hpo_term_name":"Radial head subluxation","phecode":"830","phecode_name":"Dislocation"} {"hpo_term_id":"HP:0003049","hpo_term_name":"Ulnar deviation of the wrist","phecode":"736.1","phecode_name":"Acquired deformities of forearm"} {"hpo_term_id":"HP:0003065","hpo_term_name":"Patellar 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{"hpo_term_id":"HP:0003083","hpo_term_name":"Dislocated radial head","phecode":"830","phecode_name":"Dislocation"} {"hpo_term_id":"HP:0003084","hpo_term_name":"Fractures of the long bones","phecode":"800","phecode_name":"Fracture of lower limb"} {"hpo_term_id":"HP:0003086","hpo_term_name":"Acromesomelia","phecode":"756","phecode_name":"Other congenital musculoskeletal anomalies"} {"hpo_term_id":"HP:0003088","hpo_term_name":"Premature osteoarthritis","phecode":"740","phecode_name":"Osteoarthrosis"} {"hpo_term_id":"HP:0003089","hpo_term_name":"Hamstring contractures","phecode":"739","phecode_name":"Contracture of joint"} {"hpo_term_id":"HP:0003093","hpo_term_name":"Limited hip extension","phecode":"741.2","phecode_name":"Stiffness of joint"} {"hpo_term_id":"HP:0003095","hpo_term_name":"Septic arthritis","phecode":"711.1","phecode_name":"Pyogenic arthritis"} {"hpo_term_id":"HP:0003109","hpo_term_name":"Hyperphosphaturia","phecode":"275.53","phecode_name":"Disorders of phosphorus metabolism"} {"hpo_term_id":"HP:0003115","hpo_term_name":"Abnormal EKG","phecode":"426.7","phecode_name":"Abnormal electrocardiogram [ECG] [EKG]"} {"hpo_term_id":"HP:0003116","hpo_term_name":"Abnormal echocardiogram","phecode":"793.2","phecode_name":"Nonspecific abnormal findings on radiological and other examination of other intrathoracic organs (echocardiogram, etc)"} {"hpo_term_id":"HP:0003118","hpo_term_name":"Increased circulating cortisol level","phecode":"259.1","phecode_name":"Nonspecific abnormal results of other endocrine function study"} {"hpo_term_id":"HP:0003121","hpo_term_name":"Limb joint contracture","phecode":"739","phecode_name":"Contracture of joint"} {"hpo_term_id":"HP:0003124","hpo_term_name":"Hypercholesterolemia","phecode":"272.11","phecode_name":"Hypercholesterolemia"} {"hpo_term_id":"HP:0003125","hpo_term_name":"Reduced factor VIII activity","phecode":"286.13","phecode_name":"Congenital factor VIII disorder"} 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anemia","phecode":"283","phecode_name":"Acquired hemolytic anemias"} {"hpo_term_id":"HP:0004818","hpo_term_name":"Paroxysmal nocturnal hemoglobinuria","phecode":"285.8","phecode_name":"Hemoglobinuria"} {"hpo_term_id":"HP:0004819","hpo_term_name":"Normocytic hypoplastic anemia","phecode":"285","phecode_name":"Other anemias"} {"hpo_term_id":"HP:0004820","hpo_term_name":"Acute myelomonocytic leukemia","phecode":"204.21","phecode_name":"Myeloid leukemia, acute"} {"hpo_term_id":"HP:0004823","hpo_term_name":"Anisopoikilocytosis","phecode":"289.9","phecode_name":"Abnormality of red blood cells"} {"hpo_term_id":"HP:0004826","hpo_term_name":"Folate-unresponsive megaloblastic anemia","phecode":"281.1","phecode_name":"Megaloblastic anemia"} {"hpo_term_id":"HP:0004831","hpo_term_name":"Recurrent thromboembolism","phecode":"452","phecode_name":"Other venous embolism and thrombosis"} {"hpo_term_id":"HP:0004835","hpo_term_name":"Microspherocytosis","phecode":"282.9","phecode_name":"Other hereditary 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{"hpo_term_id":"HP:0005235","hpo_term_name":"Jejunal atresia","phecode":"750.21","phecode_name":"Congenital anomalies of intestine"} {"hpo_term_id":"HP:0005243","hpo_term_name":"Partial abdominal muscle agenesis","phecode":"756.1","phecode_name":"Congenital anomalies of abdominal wall; diaphram"} {"hpo_term_id":"HP:0005247","hpo_term_name":"Hypoplasia of the abdominal wall musculature","phecode":"756.1","phecode_name":"Congenital anomalies of abdominal wall; diaphram"} {"hpo_term_id":"HP:0005249","hpo_term_name":"Functional intestinal obstruction","phecode":"560","phecode_name":"Intestinal obstruction without mention of hernia"} {"hpo_term_id":"HP:0005254","hpo_term_name":"Unilateral chest hypoplasia","phecode":"756.2","phecode_name":"Pectus and other congenital anomalies of ribs/sternum"} {"hpo_term_id":"HP:0005257","hpo_term_name":"Thoracic hypoplasia","phecode":"756.2","phecode_name":"Pectus and other congenital anomalies of ribs/sternum"} {"hpo_term_id":"HP:0005259","hpo_term_name":"Abnormal facility in opposing the shoulders","phecode":"756.2","phecode_name":"Pectus and other congenital anomalies of ribs/sternum"} {"hpo_term_id":"HP:0005261","hpo_term_name":"Joint hemorrhage","phecode":"741.5","phecode_name":"Hemarthrosis"} {"hpo_term_id":"HP:0005263","hpo_term_name":"Gastritis","phecode":"535","phecode_name":"Gastritis and duodenitis"} {"hpo_term_id":"HP:0005267","hpo_term_name":"Premature delivery because of cervical insufficiency or membrane fragility","phecode":"636.2","phecode_name":"Early onset of delivery"} {"hpo_term_id":"HP:0005268","hpo_term_name":"Spontaneous abortion","phecode":"634","phecode_name":"Miscarriage; stillbirth"} {"hpo_term_id":"HP:0005290","hpo_term_name":"Internal carotid artery hypoplasia","phecode":"747","phecode_name":"Cardiac and circulatory congenital anomalies"} {"hpo_term_id":"HP:0005292","hpo_term_name":"Intimal thickening in the coronary 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{"hpo_term_id":"HP:0006262","hpo_term_name":"Aplasia/Hypoplasia of the 5th finger","phecode":"755.3","phecode_name":"Congenital anomaly of fingers/toes"} {"hpo_term_id":"HP:0006265","hpo_term_name":"Aplasia/Hypoplasia of fingers","phecode":"755.3","phecode_name":"Congenital anomaly of fingers/toes"} {"hpo_term_id":"HP:0006268","hpo_term_name":"Fluctuating splenomegaly","phecode":"579.2","phecode_name":"Splenomegaly"} {"hpo_term_id":"HP:0006276","hpo_term_name":"Hyperechogenic pancreas","phecode":"577","phecode_name":"Diseases of pancreas"} {"hpo_term_id":"HP:0006277","hpo_term_name":"Pancreatic hyperplasia","phecode":"251.1","phecode_name":"Hypoglycemia"} {"hpo_term_id":"HP:0006280","hpo_term_name":"Chronic pancreatitis","phecode":"577.2","phecode_name":"Chronic pancreatitis"} {"hpo_term_id":"HP:0006285","hpo_term_name":"Hypomineralization of enamel","phecode":"521.2","phecode_name":"Dental abrasion, erosion and attrition"} {"hpo_term_id":"HP:0006288","hpo_term_name":"Advanced eruption 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{"hpo_term_id":"HP:0006610","hpo_term_name":"Clinodactyly of the 5th finger","phecode":"755.3","phecode_name":"Congenital anomaly of fingers/toes"} {"hpo_term_id":"HP:0006615","hpo_term_name":"Absent in utero rib ossification","phecode":"756.2","phecode_name":"Pectus and other congenital anomalies of ribs/sternum"} {"hpo_term_id":"HP:0006619","hpo_term_name":"Anterior rib punctate calcifications","phecode":"756.2","phecode_name":"Pectus and other congenital anomalies of ribs/sternum"} {"hpo_term_id":"HP:0006640","hpo_term_name":"Multiple rib fractures","phecode":"807","phecode_name":"Fracture of ribs"} {"hpo_term_id":"HP:0006644","hpo_term_name":"Thoracic dysplasia","phecode":"756.2","phecode_name":"Pectus and other congenital anomalies of ribs/sternum"} {"hpo_term_id":"HP:0006657","hpo_term_name":"Hypoplasia of first ribs","phecode":"756.2","phecode_name":"Pectus and other congenital anomalies of ribs/sternum"} {"hpo_term_id":"HP:0006665","hpo_term_name":"Coat hanger sign of ribs","phecode":"756.2","phecode_name":"Pectus and other congenital anomalies of ribs/sternum"} {"hpo_term_id":"HP:0006671","hpo_term_name":"Paroxysmal atrial tachycardia","phecode":"427.1","phecode_name":"Paroxysmal tachycardia, unspecified"} {"hpo_term_id":"HP:0006673","hpo_term_name":"Reduced systolic function","phecode":"428.3","phecode_name":"Heart failure with reduced EF [Systolic or combined heart failure]"} {"hpo_term_id":"HP:0006677","hpo_term_name":"Prolonged QRS complex","phecode":"426.32","phecode_name":"Left bundle branch block"} {"hpo_term_id":"HP:0006682","hpo_term_name":"Ventricular extrasystoles","phecode":"427.6","phecode_name":"Premature beats"} {"hpo_term_id":"HP:0006684","hpo_term_name":"Ventricular preexcitation with multiple accessory pathways","phecode":"426.4","phecode_name":"Anomalous atrioventricular excitation"} {"hpo_term_id":"HP:0006685","hpo_term_name":"Endocardial fibrosis","phecode":"425.1","phecode_name":"Primary/intrinsic cardiomyopathies"} 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{"hpo_term_id":"HP:0007153","hpo_term_name":"Progressive extrapyramidal movement disorder","phecode":"333","phecode_name":"Extrapyramidal disease and abnormal movement disorders"} {"hpo_term_id":"HP:0007159","hpo_term_name":"Fluctuations in consciousness","phecode":"291.8","phecode_name":"Alteration of consciousness"} {"hpo_term_id":"HP:0007162","hpo_term_name":"Diffuse demyelination of the cerebral white matter","phecode":"341","phecode_name":"Other demyelinating diseases of central nervous system"} {"hpo_term_id":"HP:0007165","hpo_term_name":"Periventricular gray matter heterotopia","phecode":"752.2","phecode_name":"Other specified congenital anomalies of nervous system"} {"hpo_term_id":"HP:0007166","hpo_term_name":"Paroxysmal dyskinesia","phecode":"333","phecode_name":"Extrapyramidal disease and abnormal movement disorders"} {"hpo_term_id":"HP:0007178","hpo_term_name":"Motor polyneuropathy","phecode":"356","phecode_name":"Hereditary and idiopathic peripheral neuropathy"} {"hpo_term_id":"HP:0007182","hpo_term_name":"Peripheral hypomyelination","phecode":"356","phecode_name":"Hereditary and idiopathic peripheral neuropathy"} {"hpo_term_id":"HP:0007183","hpo_term_name":"Focal T2 hyperintense basal ganglia lesion","phecode":"333.8","phecode_name":"Other degenerative diseases of the basal ganglia"} {"hpo_term_id":"HP:0007185","hpo_term_name":"Loss of consciousness","phecode":"291.8","phecode_name":"Alteration of consciousness"} {"hpo_term_id":"HP:0007187","hpo_term_name":"Focal lissencephaly","phecode":"752.2","phecode_name":"Other specified congenital anomalies of nervous system"} {"hpo_term_id":"HP:0007193","hpo_term_name":"Generalized tonic-clonic seizures on awakening","phecode":"345.3","phecode_name":"Convulsions"} {"hpo_term_id":"HP:0007204","hpo_term_name":"Diffuse white matter abnormalities","phecode":"346.1","phecode_name":"Nonspecific abnormal findings on radiological and other examination of skull and head"} {"hpo_term_id":"HP:0007206","hpo_term_name":"Hemimegalencephaly","phecode":"752.2","phecode_name":"Other specified congenital anomalies of nervous system"} {"hpo_term_id":"HP:0007207","hpo_term_name":"Photosensitive tonic-clonic seizures","phecode":"345.11","phecode_name":"Generalized convulsive epilepsy"} {"hpo_term_id":"HP:0007209","hpo_term_name":"Facial paralysis","phecode":"352.2","phecode_name":"Facial nerve disorders [CN7]"} {"hpo_term_id":"HP:0007210","hpo_term_name":"Lower limb amyotrophy","phecode":"772.1","phecode_name":"Muscular wasting and disuse atrophy"} {"hpo_term_id":"HP:0007215","hpo_term_name":"Periodic hyperkalemic paralysis","phecode":"359.1","phecode_name":"Muscular dystrophies"} {"hpo_term_id":"HP:0007220","hpo_term_name":"Demyelinating motor neuropathy","phecode":"357","phecode_name":"Inflammatory and toxic neuropathy"} {"hpo_term_id":"HP:0007221","hpo_term_name":"Progressive truncal ataxia","phecode":"334.1","phecode_name":"Spinocerebellar disease"} {"hpo_term_id":"HP:0007227","hpo_term_name":"Macrogyria","phecode":"752.2","phecode_name":"Other specified congenital anomalies of nervous system"} {"hpo_term_id":"HP:0007229","hpo_term_name":"Intracerebral periventricular calcifications","phecode":"348.9","phecode_name":"Other conditions of brain, NOS"} {"hpo_term_id":"HP:0007232","hpo_term_name":"Spinocerebellar tract disease in lower limbs","phecode":"334.1","phecode_name":"Spinocerebellar disease"} {"hpo_term_id":"HP:0007236","hpo_term_name":"Recurrent subcortical infarcts","phecode":"433.21","phecode_name":"Cerebral artery occlusion, with cerebral infarction"} {"hpo_term_id":"HP:0007240","hpo_term_name":"Progressive gait ataxia","phecode":"334.1","phecode_name":"Spinocerebellar disease"} {"hpo_term_id":"HP:0007256","hpo_term_name":"Abnormal pyramidal signs","phecode":"333","phecode_name":"Extrapyramidal disease and abnormal movement disorders"} {"hpo_term_id":"HP:0007258","hpo_term_name":"Severe demyelination of the white 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{"hpo_term_id":"HP:0007427","hpo_term_name":"Reticulated skin pigmentation","phecode":"694.2","phecode_name":"Other dyschromia"} {"hpo_term_id":"HP:0007428","hpo_term_name":"Telangiectasia of the oral mucosa","phecode":"448","phecode_name":"Disease of capillaries"} {"hpo_term_id":"HP:0007429","hpo_term_name":"Few cafe-au-lait spots","phecode":"694.2","phecode_name":"Other dyschromia"} {"hpo_term_id":"HP:0007430","hpo_term_name":"Generalized edema","phecode":"782.3","phecode_name":"Edema"} {"hpo_term_id":"HP:0007431","hpo_term_name":"Congenital ichthyosiform erythroderma","phecode":"691.1","phecode_name":"Ichthyosis congenita"} {"hpo_term_id":"HP:0007432","hpo_term_name":"Intermittent generalized erythematous papular rash","phecode":"695","phecode_name":"Erythematous conditions"} {"hpo_term_id":"HP:0007436","hpo_term_name":"Hair-nail ectodermal dysplasia","phecode":"691","phecode_name":"Congenital anomalies of skin"} {"hpo_term_id":"HP:0007437","hpo_term_name":"Multiple cutaneous 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{"hpo_term_id":"HP:0007455","hpo_term_name":"Adermatoglyphia","phecode":"691","phecode_name":"Congenital anomalies of skin"} {"hpo_term_id":"HP:0007465","hpo_term_name":"Honeycomb palmoplantar keratoderma","phecode":"691","phecode_name":"Congenital anomalies of skin"} {"hpo_term_id":"HP:0007466","hpo_term_name":"Midfrontal capillary hemangioma","phecode":"228.1","phecode_name":"Hemangioma of skin and subcutaneous tissue"} {"hpo_term_id":"HP:0007468","hpo_term_name":"Perifollicular hyperkeratosis","phecode":"701.1","phecode_name":"Keratoderma, acquired"} {"hpo_term_id":"HP:0007469","hpo_term_name":"Palmoplantar cutis gyrata","phecode":"691","phecode_name":"Congenital anomalies of skin"} {"hpo_term_id":"HP:0007470","hpo_term_name":"Periarticular subcutaneous nodules","phecode":"687.2","phecode_name":"Localized superficial swelling, mass, or lump"} {"hpo_term_id":"HP:0007473","hpo_term_name":"Crusting erythematous dermatitis","phecode":"695","phecode_name":"Erythematous conditions"} {"hpo_term_id":"HP:0007475","hpo_term_name":"Congenital bullous ichthyosiform erythroderma","phecode":"691.1","phecode_name":"Ichthyosis congenita"} {"hpo_term_id":"HP:0007476","hpo_term_name":"Anhidrotic ectodermal dysplasia","phecode":"691","phecode_name":"Congenital anomalies of skin"} {"hpo_term_id":"HP:0007479","hpo_term_name":"Congenital nonbullous ichthyosiform erythroderma","phecode":"691.1","phecode_name":"Ichthyosis congenita"} {"hpo_term_id":"HP:0007480","hpo_term_name":"Decreased sweating due to autonomic dysfunction","phecode":"343","phecode_name":"Infantile cerebral palsy"} {"hpo_term_id":"HP:0007489","hpo_term_name":"Diffuse telangiectasia","phecode":"448","phecode_name":"Disease of capillaries"} {"hpo_term_id":"HP:0007494","hpo_term_name":"Discrete 2 to 5-mm hyper- and hypopigmented macules","phecode":"694","phecode_name":"Dyschromia and Vitiligo"} {"hpo_term_id":"HP:0007499","hpo_term_name":"Recurrent staphylococcal 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{"hpo_term_id":"HP:0007545","hpo_term_name":"Congenital palmoplantar keratosis","phecode":"691","phecode_name":"Congenital anomalies of skin"} {"hpo_term_id":"HP:0007546","hpo_term_name":"Linear hyperpigmentation","phecode":"694.2","phecode_name":"Other dyschromia"} {"hpo_term_id":"HP:0007548","hpo_term_name":"Palmoplantar keratosis with erythema and scale","phecode":"691","phecode_name":"Congenital anomalies of skin"} {"hpo_term_id":"HP:0007549","hpo_term_name":"Desquamation of skin soon after birth","phecode":"691","phecode_name":"Congenital anomalies of skin"} {"hpo_term_id":"HP:0007550","hpo_term_name":"Hypohidrosis or hyperhidrosis","phecode":"705","phecode_name":"Disorders of sweat glands"} {"hpo_term_id":"HP:0007553","hpo_term_name":"Congenital symmetrical palmoplantar keratosis","phecode":"691","phecode_name":"Congenital anomalies of skin"} {"hpo_term_id":"HP:0007556","hpo_term_name":"Plantar hyperkeratosis","phecode":"691","phecode_name":"Congenital anomalies of skin"} {"hpo_term_id":"HP:0007559","hpo_term_name":"Localized epidermolytic hyperkeratosis","phecode":"701.1","phecode_name":"Keratoderma, acquired"} {"hpo_term_id":"HP:0007561","hpo_term_name":"Telangiectases in sun-exposed and nonexposed skin","phecode":"448","phecode_name":"Disease of capillaries"} {"hpo_term_id":"HP:0007565","hpo_term_name":"Multiple cafe-au-lait spots","phecode":"694.2","phecode_name":"Other dyschromia"} {"hpo_term_id":"HP:0007569","hpo_term_name":"Generalized seborrheic dermatitis","phecode":"690.1","phecode_name":"Seborrheic dermatitis"} {"hpo_term_id":"HP:0007572","hpo_term_name":"Hyperpigmented streaks","phecode":"694.2","phecode_name":"Other dyschromia"} {"hpo_term_id":"HP:0007583","hpo_term_name":"Telangiectasia macularis eruptiva perstans","phecode":"362.4","phecode_name":"Retinal vascular changes and abnomalities"} {"hpo_term_id":"HP:0007588","hpo_term_name":"Reticular hyperpigmentation","phecode":"694.2","phecode_name":"Other dyschromia"} {"hpo_term_id":"HP:0007589","hpo_term_name":"Aplasia cutis congenita on trunk or limbs","phecode":"757","phecode_name":"Congenital anomalies of the integument"} {"hpo_term_id":"HP:0007590","hpo_term_name":"Aplasia cutis congenita over posterior parietal area","phecode":"757","phecode_name":"Congenital anomalies of the integument"} {"hpo_term_id":"HP:0007592","hpo_term_name":"Aplasia/Hypoplastia of the eccrine sweat glands","phecode":"705","phecode_name":"Disorders of sweat glands"} {"hpo_term_id":"HP:0007601","hpo_term_name":"Midline facial capillary hemangioma","phecode":"228.1","phecode_name":"Hemangioma of skin and subcutaneous tissue"} {"hpo_term_id":"HP:0007607","hpo_term_name":"Hypohidrotic ectodermal dysplasia","phecode":"691","phecode_name":"Congenital anomalies of skin"} {"hpo_term_id":"HP:0007609","hpo_term_name":"Hypoproteinemic edema","phecode":"782.3","phecode_name":"Edema"} {"hpo_term_id":"HP:0007610","hpo_term_name":"Blotching pigmentation of the 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{"hpo_term_id":"HP:0007628","hpo_term_name":"Mandibular condyle hypoplasia","phecode":"526.3","phecode_name":"Anomalies of jaw size/symmetry"} {"hpo_term_id":"HP:0007633","hpo_term_name":"Bilateral microphthalmos","phecode":"753","phecode_name":"Congenital anomalies of the eye"} {"hpo_term_id":"HP:0007634","hpo_term_name":"Nonarteritic anterior ischemic optic neuropathy","phecode":"377.3","phecode_name":"Optic neuritis/neuropathy"} {"hpo_term_id":"HP:0007641","hpo_term_name":"Dyschromatopsia","phecode":"368.5","phecode_name":"Color vision deficiencies"} {"hpo_term_id":"HP:0007642","hpo_term_name":"Congenital stationary night blindness","phecode":"368","phecode_name":"Visual disturbances"} {"hpo_term_id":"HP:0007643","hpo_term_name":"Peripheral tractional retinal detachment","phecode":"361","phecode_name":"Retinal detachments and defects"} {"hpo_term_id":"HP:0007648","hpo_term_name":"Punctate cataract","phecode":"366","phecode_name":"Cataract"} {"hpo_term_id":"HP:0007649","hpo_term_name":"Congenital hypertrophy of retinal pigment epithelium","phecode":"753.2","phecode_name":"Congenital anomalies of posterior segment of eye"} {"hpo_term_id":"HP:0007650","hpo_term_name":"Progressive ophthalmoplegia","phecode":"378","phecode_name":"Strabismus and other disorders of binocular eye movements"} {"hpo_term_id":"HP:0007651","hpo_term_name":"Ectropion of lower eyelids","phecode":"374.1","phecode_name":"Ectropion or entropion"} {"hpo_term_id":"HP:0007655","hpo_term_name":"Eversion of lateral third of lower eyelids","phecode":"374.1","phecode_name":"Ectropion or entropion"} {"hpo_term_id":"HP:0007656","hpo_term_name":"Lacrimal gland aplasia","phecode":"375","phecode_name":"Disorders of lacrimal system"} {"hpo_term_id":"HP:0007657","hpo_term_name":"Diffuse nuclear cataract","phecode":"366.1","phecode_name":"Nonsenile Cataract"} {"hpo_term_id":"HP:0007658","hpo_term_name":"Large hyperpigmented retinal spots","phecode":"362","phecode_name":"Other retinal disorders"} {"hpo_term_id":"HP:0007661","hpo_term_name":"Abnormality of chorioretinal pigmentation","phecode":"362.7","phecode_name":"Hereditary retinal dystrophies"} {"hpo_term_id":"HP:0007663","hpo_term_name":"Reduced visual acuity","phecode":"368","phecode_name":"Visual disturbances"} {"hpo_term_id":"HP:0007667","hpo_term_name":"Peripheral cystoid retinal degeneration","phecode":"362.6","phecode_name":"Peripheral retinal degenerations"} {"hpo_term_id":"HP:0007668","hpo_term_name":"Impaired pursuit initiation and maintenance","phecode":"378.2","phecode_name":"Nystagmus and other irregular eye movements"} {"hpo_term_id":"HP:0007670","hpo_term_name":"Abnormal vestibulo-ocular reflex","phecode":"378.2","phecode_name":"Nystagmus and other irregular eye movements"} {"hpo_term_id":"HP:0007675","hpo_term_name":"Progressive night blindness","phecode":"368","phecode_name":"Visual disturbances"} {"hpo_term_id":"HP:0007677","hpo_term_name":"Vitelliform-like macular lesions","phecode":"362.7","phecode_name":"Hereditary retinal dystrophies"} {"hpo_term_id":"HP:0007678","hpo_term_name":"Lacrimal duct stenosis","phecode":"375","phecode_name":"Disorders of lacrimal system"} {"hpo_term_id":"HP:0007680","hpo_term_name":"Depigmented fundus","phecode":"362.7","phecode_name":"Hereditary retinal dystrophies"} {"hpo_term_id":"HP:0007685","hpo_term_name":"Peripheral retinal avascularization","phecode":"362.4","phecode_name":"Retinal vascular changes and abnomalities"} {"hpo_term_id":"HP:0007687","hpo_term_name":"Unilateral ptosis","phecode":"374.3","phecode_name":"Ptosis of eyelid"} {"hpo_term_id":"HP:0007690","hpo_term_name":"Map-dot-fingerprint corneal dystrophy","phecode":"364.5","phecode_name":"Corneal dystrophy"} {"hpo_term_id":"HP:0007695","hpo_term_name":"Abnormal pupillary light reflex","phecode":"379.4","phecode_name":"Anomalies of pupillary function"} 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{"hpo_term_id":"HP:0008222","hpo_term_name":"Female infertility","phecode":"626.8","phecode_name":"Infertility, female"} {"hpo_term_id":"HP:0008223","hpo_term_name":"Compensated hypothyroidism","phecode":"244","phecode_name":"Hypothyroidism"} {"hpo_term_id":"HP:0008225","hpo_term_name":"Thyroid follicular hyperplasia","phecode":"242.1","phecode_name":"Graves' disease"} {"hpo_term_id":"HP:0008229","hpo_term_name":"Thyroid lymphangiectasia","phecode":"450","phecode_name":"Noninfectious disorders of lymphatic channels"} {"hpo_term_id":"HP:0008237","hpo_term_name":"Hypothalamic hypothyroidism","phecode":"244.2","phecode_name":"Acquired hypothyroidism"} {"hpo_term_id":"HP:0008239","hpo_term_name":"Adrenal medullary hypoplasia","phecode":"759.1","phecode_name":"Anomalies of endocrine glands, congenital"} {"hpo_term_id":"HP:0008242","hpo_term_name":"Pseudohypoaldosteronism","phecode":"255","phecode_name":"Disorders of adrenal glands"} {"hpo_term_id":"HP:0008244","hpo_term_name":"Congenital 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{"hpo_term_id":"HP:0008629","hpo_term_name":"Pulsatile tinnitus","phecode":"389.4","phecode_name":"Tinnitus"} {"hpo_term_id":"HP:0008652","hpo_term_name":"Autonomic erectile dysfunction","phecode":"605","phecode_name":"Erectile dysfunction [ED]"} {"hpo_term_id":"HP:0008653","hpo_term_name":"Crescentic glomerulonephritis","phecode":"580.1","phecode_name":"Glomerulonephritis"} {"hpo_term_id":"HP:0008655","hpo_term_name":"Aplasia/Hypoplasia of the fallopian tube","phecode":"751.11","phecode_name":"Congenital anomalies of female genital organs"} {"hpo_term_id":"HP:0008659","hpo_term_name":"Multiple small medullary renal cysts","phecode":"751.21","phecode_name":"Cystic kidney disease"} {"hpo_term_id":"HP:0008660","hpo_term_name":"Renotubular dysgenesis","phecode":"751.21","phecode_name":"Cystic kidney disease"} {"hpo_term_id":"HP:0008661","hpo_term_name":"Urethral stenosis","phecode":"597.1","phecode_name":"Urethral stricture (not specified as infectious)"} 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{"hpo_term_id":"HP:0200063","hpo_term_name":"Colorectal polyposis","phecode":"208","phecode_name":"Benign neoplasm of colon"} {"hpo_term_id":"HP:0200065","hpo_term_name":"Chorioretinal degeneration","phecode":"753.2","phecode_name":"Congenital anomalies of posterior segment of eye"} {"hpo_term_id":"HP:0200067","hpo_term_name":"Recurrent spontaneous abortion","phecode":"634","phecode_name":"Miscarriage; stillbirth"} {"hpo_term_id":"HP:0200068","hpo_term_name":"Nonprogressive visual loss","phecode":"367.9","phecode_name":"Blindness and low vision"} {"hpo_term_id":"HP:0200070","hpo_term_name":"Peripheral retinal atrophy","phecode":"362.6","phecode_name":"Peripheral retinal degenerations"} {"hpo_term_id":"HP:0200071","hpo_term_name":"Peripheral vitreoretinal degeneration","phecode":"362.3","phecode_name":"Other nondiabetic retinopathy"} {"hpo_term_id":"HP:0200072","hpo_term_name":"Episodic quadriplegia","phecode":"344","phecode_name":"Other paralytic syndromes"} {"hpo_term_id":"HP:0200073","hpo_term_name":"Respiratory insufficiency due to defective ciliary clearance","phecode":"509","phecode_name":"Respiratory failure, insufficiency, arrest"} {"hpo_term_id":"HP:0200084","hpo_term_name":"Giant cell hepatitis","phecode":"656.8","phecode_name":"Perinatal jaundice"} {"hpo_term_id":"HP:0200085","hpo_term_name":"Limb tremor","phecode":"333.1","phecode_name":"Essential tremor"} {"hpo_term_id":"HP:0200094","hpo_term_name":"Frontal open bite","phecode":"524.3","phecode_name":"Anomalies of tooth position/malocclusion"} {"hpo_term_id":"HP:0200096","hpo_term_name":"Triangular-shaped open mouth","phecode":"755.3","phecode_name":"Congenital anomaly of fingers/toes"} {"hpo_term_id":"HP:0200097","hpo_term_name":"Oral mucosal blisters","phecode":"528","phecode_name":"Diseases of the oral soft tissues, excluding lesions specific for gingiva and tongue"} {"hpo_term_id":"HP:0200098","hpo_term_name":"Absent skin pigmentation","phecode":"694","phecode_name":"Dyschromia and Vitiligo"} {"hpo_term_id":"HP:0200101","hpo_term_name":"Decreased/absent ankle reflexes","phecode":"350.5","phecode_name":"Abnormal reflex"} {"hpo_term_id":"HP:0200104","hpo_term_name":"Absent fifth fingernail","phecode":"755.3","phecode_name":"Congenital anomaly of fingers/toes"} {"hpo_term_id":"HP:0200105","hpo_term_name":"Absent fifth toenail","phecode":"755.3","phecode_name":"Congenital anomaly of fingers/toes"} {"hpo_term_id":"HP:0200114","hpo_term_name":"Metabolic alkalosis","phecode":"276.42","phecode_name":"Alkalosis"} {"hpo_term_id":"HP:0200116","hpo_term_name":"Distal ileal atresia","phecode":"750.21","phecode_name":"Congenital anomalies of intestine"} {"hpo_term_id":"HP:0200117","hpo_term_name":"Recurrent upper and lower respiratory tract infections","phecode":"465","phecode_name":"Acute upper respiratory infections of multiple or unspecified sites"} {"hpo_term_id":"HP:0200118","hpo_term_name":"Malabsorption of Vitamin B12","phecode":"281.12","phecode_name":"Other vitamin B12 deficiency anemia"} {"hpo_term_id":"HP:0200119","hpo_term_name":"Acute hepatitis","phecode":"070","phecode_name":"Viral hepatitis"} {"hpo_term_id":"HP:0200120","hpo_term_name":"Chronic active hepatitis","phecode":"070.4","phecode_name":"Chronic hepatitis"} {"hpo_term_id":"HP:0200122","hpo_term_name":"Atypical or prolonged hepatitis","phecode":"070.4","phecode_name":"Chronic hepatitis"} {"hpo_term_id":"HP:0200123","hpo_term_name":"Chronic hepatitis","phecode":"070.4","phecode_name":"Chronic hepatitis"} {"hpo_term_id":"HP:0200124","hpo_term_name":"Chronic hepatitis due to cryptosporidium infection","phecode":"070.4","phecode_name":"Chronic hepatitis"} {"hpo_term_id":"HP:0200127","hpo_term_name":"Atrial cardiomyopathy","phecode":"425","phecode_name":"Cardiomyopathy"} {"hpo_term_id":"HP:0200128","hpo_term_name":"Biventricular hypertrophy","phecode":"416","phecode_name":"Cardiomegaly"} {"hpo_term_id":"HP:0200133","hpo_term_name":"Lumbosacral meningocele","phecode":"752.11","phecode_name":"Spina bifida"} {"hpo_term_id":"HP:0200134","hpo_term_name":"Epileptic encephalopathy","phecode":"323","phecode_name":"Encephalitis"} {"hpo_term_id":"HP:0200136","hpo_term_name":"Oral-pharyngeal dysphagia","phecode":"532","phecode_name":"Dysphagia"} {"hpo_term_id":"HP:0200138","hpo_term_name":"Bilateral choanal atresia/stenosis","phecode":"749","phecode_name":"Congenital anomalies of face and neck"} {"hpo_term_id":"HP:0200141","hpo_term_name":"Small, conical teeth","phecode":"520.2","phecode_name":"Disturbances in tooth eruption"} {"hpo_term_id":"HP:0200147","hpo_term_name":"Neuronal loss in basal ganglia","phecode":"333.8","phecode_name":"Other degenerative diseases of the basal ganglia"} {"hpo_term_id":"HP:0200151","hpo_term_name":"Cutaneous mastocytosis","phecode":"202","phecode_name":"Cancer of other lymphoid, histiocytic tissue"} {"hpo_term_id":"HP:0200153","hpo_term_name":"Agenesis of lateral incisor","phecode":"520.2","phecode_name":"Disturbances in tooth eruption"} {"hpo_term_id":"HP:0410005","hpo_term_name":"Cleft hard palate","phecode":"749.1","phecode_name":"Cleft palate"} {"hpo_term_id":"HP:0410018","hpo_term_name":"Recurrent ear infections","phecode":"381.1","phecode_name":"Otitis media"} {"hpo_term_id":"HP:0410030","hpo_term_name":"Cleft lip","phecode":"749.1","phecode_name":"Cleft palate"} {"hpo_term_id":"HP:0410135","hpo_term_name":"Cold urticaria","phecode":"947","phecode_name":"Urticaria"} {"hpo_term_id":"HP:0410151","hpo_term_name":"Eosinophilic infiltration of the esophagus","phecode":"530.15","phecode_name":"Eosinophilic esophagitis"} {"hpo_term_id":"HP:0410170","hpo_term_name":"Hippocampal atrophy","phecode":"348","phecode_name":"Other conditions of brain"} {"hpo_term_id":"HP:0410252","hpo_term_name":"Chronic neutropenia","phecode":"288.11","phecode_name":"Neutropenia"} {"hpo_term_id":"HP:0410255","hpo_term_name":"Transient neutropenia","phecode":"288.11","phecode_name":"Neutropenia"} {"hpo_term_id":"HP:0410263","hpo_term_name":"Brain imaging abnormality","phecode":"346.2","phecode_name":"Nonspecific abnormal results of function study of brain and central nervous system"} {"hpo_term_id":"HP:0430007","hpo_term_name":"Symblepharon","phecode":"372","phecode_name":"Disorders of conjunctiva"} {"hpo_term_id":"HP:0430028","hpo_term_name":"Hyperplasia of the maxilla","phecode":"526.3","phecode_name":"Anomalies of jaw size/symmetry"} {"hpo_term_id":"HP:0500005","hpo_term_name":"Anal pain","phecode":"565","phecode_name":"Anal and rectal conditions"} {"hpo_term_id":"HP:0500041","hpo_term_name":"Myopic astigmatism","phecode":"367.2","phecode_name":"Astigmatism"} {"hpo_term_id":"HP:0500070","hpo_term_name":"Conjunctival dermolipoma","phecode":"372","phecode_name":"Disorders of conjunctiva"} {"hpo_term_id":"HP:0500087","hpo_term_name":"Peripapillary atrophy","phecode":"377.1","phecode_name":"Optic atrophy"} {"hpo_term_id":"HP:0500093","hpo_term_name":"IgE-mediated food allergy","phecode":"930","phecode_name":"Allergic reaction to food"} {"hpo_term_id":"HP:0550004","hpo_term_name":"Verruca plana","phecode":"078","phecode_name":"Viral warts & HPV"}