PedAM

Pediatric Disease Annotations & Medicines


	n syndrome

Disease ID	1391
Disease	n syndrome
Synonym	nsx
Orphanet	ORPHANET:2608
OMIM	OMIM:310465
DOID	DOID:0050769
UMLS	C2936859
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:806) C0023418 \| leukemia \| 38 C0016053 \| myofascial pain syndrome \| 24 C0014544 \| epilepsy \| 24 C0497327 \| dementia \| 23 C0018799 \| heart disease \| 22 C0020538 \| hypertension \| 19 C0877149 \| patellofemoral pain syndrome \| 18 C0028754 \| obesity \| 18 C0152078 \| pelvic pain syndrome \| 17 C0011847 \| diabetes \| 16 C0314719 \| dry eye \| 15 C0878544 \| cardiomyopathy \| 14 C0025362 \| mental retardation \| 14 C0152021 \| congenital heart disease \| 14 C0037315 \| sleep apnea \| 14 C0013080 \| trisomy 21 \| 13 C0003864 \| arthritis \| 13 C0017601 \| glaucoma \| 13 C0020676 \| hypothyroidism \| 13 C0036341 \| schizophrenia \| 12 C0520679 \| obstructive sleep apnea \| 12 C0000889 \| acanthosis nigricans \| 11 C0032285 \| pneumonia \| 11 C0002395 \| alzheimer's disease \| 11 C0018818 \| ventricular septal defect \| 11 C0040053 \| thrombosis \| 11 C0023418 \| leukaemia \| 11 C0023487 \| promyelocytic leukemia \| 10 C0409974 \| lupus erythematosus \| 10 C0011570 \| depression \| 10 C0679466 \| cognitive deficits \| 10 C0021359 \| infertility \| 10 C0023470 \| myeloid leukemia \| 10 C0023487 \| acute promyelocytic leukemia \| 10 C0024299 \| lymphoma \| 10 C0023470 \| myelocytic leukemia \| 10 C0033975 \| psychosis \| 9 C0021359 \| infertile \| 9 C0021053 \| immune disease \| 9 C0553662 \| juvenile idiopathic arthritis \| 9 C0042373 \| vascular disease \| 8 C0030305 \| pancreatitis \| 8 C0003486 \| aortic aneurysm \| 8 C0002871 \| anemia \| 8 C0024141 \| systemic lupus erythematosus \| 8 C0007570 \| celiac disease \| 8 C0010278 \| craniosynostosis \| 8 C0020619 \| hypogonadism \| 8 C0023890 \| cirrhosis \| 7 C0020542 \| pulmonary hypertension \| 7 C0035305 \| retinal detachment \| 7 C0027022 \| myeloproliferative disorder \| 7 C0023448 \| lymphoblastic leukemia \| 7 C0026934 \| mycoplasma \| 7 C0085669 \| acute leukemia \| 7 C0038165 \| scalded skin syndrome \| 7 C0442874 \| neuropathy \| 7 C1145670 \| respiratory failure \| 7 C0019569 \| hirschsprung's disease \| 7 C0030567 \| parkinson's disease \| 7 C1834582 \| transient abnormal myelopoiesis \| 7 C0023449 \| acute lymphoblastic leukemia \| 7 C0010068 \| coronary heart disease \| 7 C0003493 \| aortic disease \| 6 C0036439 \| scoliosis \| 6 C0023462 \| megakaryoblastic leukemia \| 6 C0026769 \| multiple sclerosis \| 6 C0002726 \| amyloidosis \| 6 C0008924 \| cleft lip \| 6 C0027051 \| myocardial infarct \| 6 C0032302 \| mycoplasma pneumonia \| 6 C0031117 \| peripheral neuropathy \| 6 C0007115 \| thyroid ca \| 6 C0023418 \| leukemias \| 6 C0032285 \| pneumoniae \| 6 C1831998 \| transient myeloproliferative disorder \| 6 C0022578 \| keratoconus \| 6 C0003467 \| anxiety \| 6 C0002395 \| alzheimer disease \| 6 C0027051 \| myocardial infarction \| 6 C0003873 \| rheumatoid arthritis \| 6 C0022735 \| hypogonadotropic hypogonadism \| 6 C0456909 \| blindness \| 6 C0011991 \| diarrhea \| 6 C0004352 \| autism \| 6 C0011334 \| caries \| 5 C0023316 \| lens subluxation \| 5 C0022658 \| renal disease \| 5 C0851578 \| sleep disorders \| 5 C0022116 \| ischemia \| 5 C0018203 \| chronic granulomatous disease \| 5 C0023467 \| acute myeloid leukemia \| 5 C0032460 \| polycystic ovary syndrome \| 5 C0007194 \| hypertrophic cardiomyopathy \| 5 C0013338 \| growth hormone deficiency \| 5 C0007193 \| dilated cardiomyopathy \| 5 C0025958 \| microcephaly \| 5 C0040128 \| thyroid disease \| 5 C0086543 \| cataract \| 5 C0014848 \| achalasia \| 4 C0021933 \| intussusception \| 4 C0242379 \| lung cancer \| 4 C0015467 \| facial pain syndromes \| 4 C0018816 \| septal defects \| 4 C0041296 \| tuberculosis \| 4 C0026654 \| moyamoya \| 4 C0007117 \| basal cell carcinoma \| 4 C0085669 \| acute leukaemia \| 4 C0011849 \| diabetes mellitus \| 4 C0023462 \| acute megakaryoblastic leukemia \| 4 C0007102 \| colon cancer \| 4 C0037315 \| sleep-disordered breathing \| 4 C0007115 \| thyroid cancer \| 4 C1619734 \| pulmonary arterial hypertension \| 4 C0001339 \| acute pancreatitis \| 4 C0001418 \| adenocarcinoma \| 4 C0042769 \| virus infection \| 4 C0016053 \| fibromyalgia \| 4 C0038238 \| steatorrhea \| 4 C0006142 \| breast cancer \| 4 C0026691 \| kawasaki disease \| 4 C0020757 \| ichthyosis \| 4 C0027873 \| neuromyelitis optica \| 4 C0013421 \| dystonia \| 4 C0008049 \| varicella \| 4 C0009492 \| compartment syndrome \| 4 C0038379 \| strabismus \| 4 C0019829 \| hodgkin lymphoma \| 4 C0162429 \| malnutrition \| 4 C0013990 \| emphysema \| 4 C0042870 \| vitamin d deficiency \| 3 C0026850 \| muscular dystrophy \| 3 C0020550 \| hyperthyroidism \| 3 C0013384 \| dyskinesia \| 3 C0020255 \| hydrocephalus \| 3 C0002453 \| amenorrhea \| 3 C0026267 \| mitral valve prolapse \| 3 C0042373 \| angiopathy \| 3 C0014118 \| endocarditis \| 3 C0042384 \| vasculitis \| 3 C0009806 \| constipation \| 3 C0155320 \| cortical blindness \| 3 C0002871 \| anaemia \| 3 C0007113 \| rectal cancer \| 3 C0019158 \| hepatitis \| 3 C0035078 \| renal failure \| 3 C0031039 \| pericardial effusion \| 3 C0015310 \| exotropia \| 3 C0023890 \| liver cirrhosis \| 3 C0006272 \| bronchiolitis obliterans \| 3 C0040034 \| thrombocytopenia \| 3 C0006271 \| bronchiolitis \| 3 C0040188 \| tic disorders \| 3 C0023462 \| acute megakaryocytic leukemia \| 3 C0024305 \| non-hodgkin lymphoma \| 3 C0024205 \| lymphadenitis \| 3 C0018818 \| ventricular septal defects \| 3 C0026975 \| myelitis \| 3 C0235270 \| keratopathy \| 3 C0032460 \| polycystic ovary \| 3 C0021400 \| influenza \| 3 C0042870 \| vitamin d defic \| 3 C0037315 \| sleep apnea syndrome \| 3 C0009402 \| colorectal cancer \| 3 C0031099 \| periodontitis \| 3 C0398623 \| thrombophilia \| 3 C0520679 \| obstructive sleep apnea syndrome \| 3 C0007222 \| cardiovascular disease \| 3 C0003469 \| anxiety disorder \| 3 C0024291 \| hemophagocytic lymphohistiocytosis \| 3 C0149931 \| migraine \| 3 C0025289 \| meningitis \| 3 C0021053 \| immune disorders \| 3 C0026848 \| myopathy \| 3 C0020635 \| hypopituitarism \| 3 C0034888 \| rectal prolapse \| 3 C0022661 \| end-stage renal disease \| 3 C0085669 \| acute leukemias \| 3 C0026654 \| moyamoya disease \| 3 C0029463 \| osteosarcoma \| 3 C0021053 \| immune disorder \| 3 C0008925 \| cleft palate \| 3 C0014877 \| esotropia \| 3 C0003537 \| aphasia \| 3 C0000786 \| miscarriages \| 3 C0019204 \| hepatocellular carcinoma \| 3 C0004943 \| behcet's disease \| 3 C0018801 \| heart failure \| 3 C0206624 \| hepatoblastoma \| 3 C0015230 \| cutaneous eruption \| 2 C2697932 \| loeys-dietz syndrome \| 2 C0022568 \| keratitis \| 2 C0009946 \| conversion disorder \| 2 C0242287 \| neuromyotonia \| 2 C0018784 \| sensorineural deafness \| 2 C0020459 \| hyperinsulinemia \| 2 C0034012 \| delayed puberty \| 2 C0338585 \| carotid artery dissection \| 2 C0015464 \| facial palsy \| 2 C0149521 \| chronic pancreatitis \| 2 C0007117 \| basal cell carcinomas \| 2 C0242647 \| malt lymphoma \| 2 C0008312 \| biliary cirrhosis \| 2 C0019284 \| diaphragmatic hernia \| 2 C0553730 \| chondrocalcinosis \| 2 C0022658 \| nephropathy \| 2 C0023487 \| acute promyelocytic leukaemia \| 2 C0023267 \| leiomyomas \| 2 C0010346 \| crohn's disease \| 2 C0152257 \| mature cataract \| 2 C0038463 \| strongyloidiasis \| 2 C0149925 \| small cell lung cancer \| 2 C0021831 \| bowel disease \| 2 C0042164 \| uveitis \| 2 C0085273 \| parvovirus b19 infection \| 2 C0003076 \| aniridia \| 2 C0018023 \| nodular goitre \| 2 C0024530 \| malaria \| 2 C0024796 \| marfan syndrome \| 2 C0035335 \| retinoblastoma \| 2 C0155550 \| neural deafness \| 2 C0011334 \| dental caries \| 2 C0026946 \| fungal infection \| 2 C0026780 \| parotitis \| 2 C0033075 \| presbyopia \| 2 C0013395 \| dyspepsia \| 2 C0206081 \| hyperandrogenism \| 2 C0020455 \| hypergammaglobulinemia \| 2 C0268238 \| neutral lipid storage disease \| 2 C0025149 \| medulloblastoma \| 2 C0026946 \| fungal infections \| 2 C0007570 \| coeliac disease \| 2 C0027726 \| nephrotic syndrome \| 2 C0001430 \| adenoma \| 2 C0206682 \| follicular thyroid cancer \| 2 C0023290 \| visceral leishmaniasis \| 2 C0018552 \| hamartomatous \| 2 C0027707 \| interstitial nephritis \| 2 C0008049 \| varicella infection \| 2 C0018784 \| sensorineural hearing loss \| 2 C0242350 \| erectile dysfunction \| 2 C0282577 \| carbohydrate-deficient glycoprotein syndrome \| 2 C0035229 \| respiratory insufficiency \| 2 C0031117 \| peripheral neuropathies \| 2 C0342208 \| multinodular goitre \| 2 C0020295 \| hydronephrosis \| 2 C0151740 \| intracranial hypertension \| 2 C0162849 \| lichen nitidus \| 2 C0021831 \| enteropathy \| 2 C0205969 \| thymic carcinoma \| 2 C0015230 \| rash \| 2 C0030804 \| cicatricial pemphigoid \| 2 C0038220 \| status epilepticus \| 2 C0027697 \| nephritis \| 2 C0023470 \| myeloid leukaemia \| 2 C0948265 \| metabolic syndrome \| 2 C0021843 \| intestinal obstruction \| 2 C0033581 \| prostatitis \| 2 C0019937 \| horner syndrome \| 2 C0751651 \| mitochondrial diseases \| 2 C0151740 \| increased intracranial pressure \| 2 C0030312 \| pancytopenia \| 2 C1704437 \| respiratory distress syndrome \| 2 C1535927 \| charge syndrome \| 2 C0085215 \| premature ovarian failure \| 2 C0018099 \| gout \| 2 C0029408 \| osteoarthritis \| 2 C0085207 \| gestational diabetes \| 2 C0035435 \| rheumatic disease \| 2 C0026654 \| moyamoya syndrome \| 2 C0002986 \| fabry disease \| 2 C0008029 \| cherubism \| 2 C0034372 \| quadriplegia \| 2 C0037769 \| infantile spasms \| 2 C0023449 \| acute lymphoblastic leukaemia \| 2 C0751651 \| mitochondrial disease \| 2 C0002895 \| sickle cell anemia \| 2 C0086543 \| cataracts \| 2 C0520679 \| obstructive sleep apnoea \| 2 C0020302 \| congenital glaucoma \| 2 C0852949 \| arteriopathy \| 2 C0040997 \| trigeminal neuralgia \| 2 C0026265 \| mitral valve disease \| 2 C0004114 \| astrocytoma \| 2 C0007114 \| skin cancer \| 2 C0029132 \| optic neuropathy \| 2 C0033860 \| psoriasis \| 2 C0027092 \| myopia \| 2 C0019360 \| zoster \| 2 C0001175 \| acquired immunodeficiency syndrome \| 2 C0003507 \| aortic stenosis \| 2 C0008370 \| cholestasis \| 2 C0023801 \| lipomatosis \| 2 C0271051 \| macular edema \| 2 C0033845 \| idiopathic intracranial hypertension \| 2 C0028840 \| ocular hypertension \| 2 C0004134 \| ataxia \| 2 C0022821 \| kyphosis \| 2 C0002395 \| alzheimer's dementia \| 2 C0549473 \| thyroid carcinoma \| 2 C0079744 \| diffuse large b-cell lymphoma \| 2 C0022661 \| chronic kidney disease \| 2 C0221355 \| macrocephaly \| 2 C0016045 \| fibromas \| 2 C0314719 \| dry eyes \| 2 C0155746 \| subclavian artery aneurysm \| 2 C0004245 \| atrioventricular block \| 2 C0031090 \| periodontal disease \| 2 C0020541 \| portal hypertension \| 2 C0005586 \| bipolar disorder \| 2 C0026266 \| mitral regurgitation \| 2 C0025202 \| melanoma \| 2 C0002878 \| haemolytic anaemia \| 2 C0012236 \| digeorge syndrome \| 2 C0242966 \| systemic inflammatory response syndrome \| 2 C0155111 \| bullous keratopathy \| 2 C0039841 \| thiamine deficiency \| 2 C0015397 \| eye disease \| 2 C0002878 \| hemolytic anemia \| 2 C0085700 \| chondromalacia \| 2 C0040100 \| thymoma \| 2 C0349639 \| juvenile myelomonocytic leukemia \| 2 C0242343 \| panhypopituitarism \| 2 C0037769 \| west syndrome \| 2 C0003509 \| aortitis \| 2 C0003486 \| aortic aneurysms \| 2 C1527336 \| sjogren's syndrome \| 2 C0037315 \| sleep apnoea \| 2 C0001126 \| renal tubular acidosis \| 2 C0029401 \| paget's disease of bone \| 1 C0004096 \| bronchial asthma \| 1 C0030783 \| pellagra \| 1 C0158646 \| cleft lip/palate \| 1 C0151313 \| sensory peripheral neuropathy \| 1 C0035309 \| retinal disease \| 1 C0079731 \| b-cell lymphoma \| 1 C0022104 \| irritable bowel \| 1 C0002880 \| autoimmune hemolytic anemia \| 1 C0520680 \| central sleep apnea \| 1 C0037822 \| speech disorders \| 1 C0936282 \| blastoma \| 1 C0270855 \| early myoclonic encephalopathy \| 1 C0022876 \| premature labor \| 1 C0034150 \| purpura \| 1 C0020598 \| hypoglycemia \| 1 C0007766 \| intracranial aneurysm \| 1 C0013264 \| duchenne muscular dystrophy \| 1 C0334583 \| pilocytic astrocytoma \| 1 C0334684 \| renal adenoma \| 1 C0023798 \| lipoma \| 1 C0007194 \| obstructive cardiomyopathy \| 1 C0015624 \| fanconi syndrome \| 1 C0026393 \| molluscum contagiosum \| 1 C0014236 \| endophthalmitis \| 1 C0033953 \| sexual dysfunction \| 1 C0011127 \| decubitus \| 1 C0002766 \| analgesia \| 1 C1533041 \| primary congenital glaucoma \| 1 C0023418 \| leukaemias \| 1 C0033680 \| protein-losing enteropathy \| 1 C1333321 \| duodenal gastrinoma \| 1 C0021670 \| insulinomas \| 1 C0010964 \| dandy-walker malformation \| 1 C0849777 \| cystic ovaries \| 1 C0235752 \| port-wine stain \| 1 C0030848 \| peyronie's disease \| 1 C0016085 \| filariasis \| 1 C0032460 \| polycystic ovarian syndrome \| 1 C0027662 \| multiple endocrine neoplasia \| 1 C1332900 \| cerebellar hemangioblastoma \| 1 C0024117 \| chronic obstructive pulmonary disease \| 1 C0013238 \| dry eye syndrome \| 1 C0687720 \| central diabetes insipidus \| 1 C0017612 \| pigmentary glaucoma \| 1 C0006267 \| bronchiectasis \| 1 C0265962 \| ichthyosis linearis circumflexa \| 1 C0034069 \| pulmonary fibrosis \| 1 C0520459 \| necrotizing enterocolitis \| 1 C0035304 \| retinal degeneration \| 1 C0494165 \| hepatic metastases \| 1 C0027708 \| wilms tumor \| 1 C0021831 \| intestinal diseases \| 1 C0034063 \| lung edema \| 1 C1956097 \| wolf-hirschhorn syndrome \| 1 C0030805 \| pemphigoid \| 1 C0039263 \| takayasu's arteritis \| 1 C0018784 \| perceptive deafness \| 1 C0027765 \| neurological disorders \| 1 C0011649 \| dermoid cyst \| 1 C0024437 \| age-related macular degeneration \| 1 C0085110 \| severe combined immunodeficiency \| 1 C0497327 \| dementias \| 1 C0220730 \| fryns syndrome \| 1 C0281361 \| pancreatic adenocarcinoma \| 1 C1258215 \| ileus \| 1 C0524812 \| intracranial hypotension \| 1 C0085652 \| pyoderma gangrenosum \| 1 C0042170 \| harada disease \| 1 C0034155 \| thrombotic thrombocytopenic purpura \| 1 C0238463 \| papillary thyroid carcinoma \| 1 C0152276 \| granulocytic sarcoma \| 1 C0032051 \| placental insufficiency \| 1 C0002453 \| amenorrhoea \| 1 C0879615 \| stromal tumor \| 1 C0266463 \| lissencephaly \| 1 C0026764 \| multiple myeloma \| 1 C1704273 \| endometrial polyps \| 1 C0678222 \| breast carcinoma \| 1 C0019291 \| hiatus hernia \| 1 C0152101 \| hypoplastic left heart syndrome \| 1 C0476089 \| endometrial cancer \| 1 C0023467 \| acute myelogenous leukemia \| 1 C0376545 \| hematological malignancy \| 1 C0018378 \| guillain-barre syndrome \| 1 C0271097 \| usher syndrome \| 1 C0022408 \| arthropathy \| 1 C0041956 \| ureteral obstruction \| 1 C0011860 \| type 2 diabetes \| 1 C0014038 \| encephalitis \| 1 C0349788 \| arrhythmogenic right ventricular cardiomyopathy \| 1 C0341052 \| chronic sialadenitis \| 1 C0020437 \| hypercalcemia \| 1 C0014121 \| infective endocarditis \| 1 C0178664 \| glomerulosclerosis \| 1 C0007766 \| cranial aneurysm \| 1 C0339143 \| dysthyroid ophthalmopathy \| 1 C0027708 \| wilms' tumor \| 1 C0268583 \| methylmalonic aciduria \| 1 C0017178 \| gastrointestinal disease \| 1 C0270921 \| axonal neuropathy \| 1 C0032000 \| pituitary adenoma \| 1 C1321489 \| muir-torre syndrome \| 1 C0085110 \| severe combined immunodefic \| 1 C0004775 \| hypokalemic alkalosis \| 1 C0028768 \| obsessive-compulsive disorder \| 1 C0022104 \| irritable bowel syndrome \| 1 C0004903 \| beckwith-wiedemann syndrome \| 1 C0040128 \| thyroid diseases \| 1 C0024437 \| macular degeneration \| 1 C0012739 \| disseminated intravascular coagulation \| 1 C0041327 \| pulmonary tuberculosis \| 1 C0005684 \| bladder cancer \| 1 C0267601 \| anismus \| 1 C0028326 \| noonan syndrome \| 1 C0022661 \| chronic renal failure \| 1 C0012736 \| dissecting aortic aneurysm \| 1 C0008495 \| chorioamnionitis \| 1 C0015464 \| facial nerve palsy \| 1 C0035222 \| acute respiratory distress syndrome \| 1 C0020459 \| hyperinsulinism \| 1 C0025306 \| meningococcaemia \| 1 C0024115 \| pulmonary disease \| 1 C0018920 \| cavernous hemangiomas \| 1 C0699893 \| non-melanoma skin cancer \| 1 C0035258 \| restless legs syndrome \| 1 C0005586 \| bipolar affective disorder \| 1 C0020807 \| idiopathic pulmonary haemosiderosis \| 1 C0038013 \| ankylosing spondylitis \| 1 C0029883 \| glue ear \| 1 C0020678 \| hypotrichosis \| 1 C0158699 \| renal agenesis \| 1 C0155626 \| acute myocardial infarction \| 1 C0156273 \| bladder diverticula \| 1 C0039538 \| teratoma \| 1 C0037944 \| spinal stenosis \| 1 C0020305 \| fetal hydrops \| 1 C0003128 \| anovulation \| 1 C0022104 \| functional bowel disease \| 1 C0012569 \| diplopia \| 1 C0085207 \| maternal diabetes \| 1 C0007785 \| cerebral ischemia \| 1 C0085253 \| adult onset still's disease \| 1 C0339573 \| primary open-angle glaucoma \| 1 C0600260 \| obstructive pulmonary disease \| 1 C0042345 \| varicose veins \| 1 C0004106 \| astigmatism \| 1 C0206660 \| germinoma \| 1 C0011269 \| vascular dementia \| 1 C0376358 \| prostate cancer \| 1 C0042974 \| von willebrand's disease \| 1 C0024408 \| joseph disease \| 1 C0007112 \| prostate adenocarcinoma \| 1 C0178421 \| fibroadenoma \| 1 C0019114 \| haemosiderosis \| 1 C0009782 \| connective tissue disease \| 1 C0037198 \| sinus thrombosis \| 1 C0008445 \| chondrodysplasia punctata \| 1 C0334121 \| inflammatory myofibroblastic tumour \| 1 C0025286 \| meningioma \| 1 C1704274 \| intrauterine adhesions \| 1 C0014859 \| esophageal cancer \| 1 C0020807 \| pulmonary hemosiderosis \| 1 C0006413 \| burkitt lymphoma \| 1 C0007177 \| pericardial tamponade \| 1 C0038868 \| progressive supranuclear palsy \| 1 C0009402 \| colorectal carcinoma \| 1 C0024441 \| macular hole \| 1 C0151740 \| raised intracranial pressure \| 1 C0016522 \| patent foramen ovale \| 1 C0014868 \| esophagitis \| 1 C0085113 \| neurofibromatosis \| 1 C0042485 \| venous insufficiency \| 1 C0423361 \| posterior vitreous detachment \| 1 C0178879 \| urinary obstruction \| 1 C0153567 \| uterine cancer \| 1 C0085110 \| severe combined immunodeficiency syndrome \| 1 C0020456 \| hyperglycemia \| 1 C0008928 \| cleidocranial dysplasia \| 1 C0013080 \| 21 trisomy \| 1 C0003857 \| arteriovenous malformation \| 1 C0014122 \| infectious endocarditis \| 1 C0018552 \| hamartoma \| 1 C0003864 \| inflammatory arthritis \| 1 C0019114 \| hemosiderosis \| 1 C0029882 \| otitis media \| 1 C0238198 \| gastrointestinal stromal tumor (gist) \| 1 C0017178 \| gastrointestinal disorder \| 1 C0035305 \| retinal detachments \| 1 C0006625 \| cachexia \| 1 C0085436 \| cryptococcal meningitis \| 1 C0036285 \| scarlet fever \| 1 C0024314 \| lymphoproliferative disease \| 1 C0038358 \| gastric ulcer \| 1 C0456909 \| vision loss \| 1 C0039730 \| thalassaemia \| 1 C0022661 \| chronic renal disease \| 1 C0017152 \| gastritis \| 1 C0152101 \| hypoplastic left heart \| 1 C0032357 \| poland syndrome \| 1 C0001080 \| achondroplasia \| 1 C1515107 \| synchronous bilateral breast carcinoma \| 1 C0017178 \| gastrointestinal diseases \| 1 C0010034 \| corneal disease \| 1 C0795690 \| omphalocele \| 1 C0023434 \| small lymphocytic lymphoma \| 1 C0017154 \| atrophic gastritis \| 1 C0030443 \| periodic paralysis \| 1 C0003125 \| anorexia nervosa \| 1 C0023882 \| spastic diplegia \| 1 C0158981 \| neonatal diabetes mellitus \| 1 C0024440 \| cystoid macular edema \| 1 C0018920 \| cavernous hemangioma \| 1 C0149530 \| congenital heart block \| 1 C0278701 \| gastric adenocarcinoma \| 1 C0026986 \| myelodysplastic syndrome \| 1 C0024534 \| cerebral malaria \| 1 C0751690 \| malignant peripheral nerve sheath tumor \| 1 C0238198 \| gastrointestinal stromal tumor \| 1 C0024899 \| mastocytosis \| 1 C0002312 \| alpha thalassemia \| 1 C0162316 \| sideropenic anemia \| 1 C0014306 \| enophthalmos \| 1 C0022575 \| keratoconjunctivitis sicca \| 1 C0018799 \| cardiac disease \| 1 C0265343 \| jarcho-levin syndrome \| 1 C1389280 \| basal ganglia calcification \| 1 C0018916 \| angioma \| 1 C0014145 \| yolk sac tumor \| 1 C0162316 \| iron deficiency anaemia \| 1 C0242966 \| systemic inflammatory response syndrome (sirs) \| 1 C0008479 \| chondrosarcoma \| 1 C0011991 \| diarrhoea \| 1 C0042109 \| urticarial \| 1 C0022336 \| creutzfeldt-jakob disease \| 1 C0151744 \| ischaemic heart disease \| 1 C0242647 \| mucosa-associated lymphoid tissue \| 1 C0743332 \| focal dystonia \| 1 C0029401 \| paget's disease \| 1 C0162871 \| abdominal aortic aneurysms \| 1 C0278848 \| recurrent thymoma \| 1 C0008312 \| primary biliary cirrhosis \| 1 C0341858 \| adenomyosis \| 1 C0017178 \| gastrointestinal disorders \| 1 C0042170 \| vogt-koyanagi-harada disease \| 1 C0019829 \| hodgkin's disease \| 1 C0339143 \| thyroid ophthalmopathy \| 1 C0023269 \| leiomyosarcoma \| 1 C0007786 \| brain ischemia \| 1 C0042345 \| varicose vein \| 1 C0043008 \| waardenburg syndrome \| 1 C0024117 \| chronic obstructive pulmonary disease (copd) \| 1 C0339527 \| leber congenital amaurosis \| 1 C0042961 \| volvulus \| 1 C0027819 \| neuroblastoma \| 1 C0010068 \| coronary artery disease \| 1 C0033847 \| pseudoxanthoma elasticum \| 1 C0033845 \| pseudotumor cerebri \| 1 C0004623 \| bacterial infection \| 1 C0241593 \| uterine adhesions \| 1 C0206734 \| hemangioblastoma \| 1 C0836924 \| thrombocythemia \| 1 C0079840 \| milk allergy \| 1 C0271429 \| acute otitis media \| 1 C0242231 \| coronary stenosis \| 1 C0025322 \| early menopause \| 1 C0042847 \| vitamin b12 deficiency \| 1 C0017150 \| gastrinoma \| 1 C1510460 \| oral-facial-digital syndrome \| 1 C0003504 \| aortic valve insufficiency \| 1 C0010674 \| cystic fibrosis \| 1 C0302592 \| cervical ca \| 1 C0027022 \| myeloid malignancy \| 1 C0340305 \| inferior wall myocardial infarction \| 1 C0017205 \| gaucher disease \| 1 C0025048 \| meconium aspiration \| 1 C0220704 \| velocardiofacial syndrome \| 1 C0007113 \| rectal carcinoma \| 1 C0271623 \| gonadotropin deficiency \| 1 C0007194 \| hypertrophic obstructive cardiomyopathy \| 1 C0017605 \| angle-closure glaucoma \| 1 C0003499 \| supravalvular aortic stenosis \| 1 C0029089 \| ophthalmoplegia \| 1 C0085253 \| adult-onset still's disease \| 1 C0001144 \| acne vulgaris \| 1 C0018552 \| hamartomas \| 1 C0009782 \| connective tissue diseases \| 1 C0019360 \| herpes zoster \| 1 C0023484 \| plasma cell leukemia \| 1 C0014547 \| partial epilepsy \| 1 C0476089 \| endometrial ca \| 1 C0235250 \| hyperemesis \| 1 C0017155 \| hypertrophic gastropathy \| 1 C0026985 \| myelodysplasia \| 1 C0002874 \| aplastic anemia \| 1 C0221032 \| congenital lipodystrophy \| 1 C0085074 \| granuloma annulare \| 1 C0016045 \| fibroma \| 1 C0011436 \| dentinogenesis imperfecta \| 1 C0042075 \| urological disorders \| 1 C0000809 \| recurrent miscarriage \| 1 C0025306 \| meningococcemia \| 1 C0035302 \| retinal artery occlusion \| 1 C0007114 \| skin cancers \| 1 C0003507 \| valvular aortic stenosis \| 1 C0021831 \| intestinal disease \| 1 C0015397 \| eye diseases \| 1 C0598894 \| monocytic leukemia \| 1 C1290398 \| cerebral artery aneurysm \| 1 C0949664 \| tauopathies \| 1 C0947622 \| cholecystolithiasis \| 1 C0034013 \| early puberty \| 1 C0032044 \| placenta accreta \| 1 C0026896 \| myasthenia gravis \| 1 C0032827 \| k deficiency \| 1 C0221013 \| systemic mastocytosis \| 1 C0001125 \| lactic acidosis \| 1 C0154251 \| lipid metabolism disorders \| 1 C0042721 \| viral hepatitis \| 1 C0040028 \| essential thrombocythemia \| 1 C0751711 \| anterior ischemic optic neuropathy \| 1 C0023895 \| hepatopathy \| 1 C0030920 \| peptic ulcer \| 1 C0494165 \| liver metastases \| 1 C0032305 \| pneumocystis carinii pneumonia \| 1 C0008373 \| cholesteatoma \| 1 C0878544 \| cardiomyopathies \| 1 C0023787 \| lipodystrophy \| 1 C0037856 \| testicular torsion \| 1 C0004936 \| mental disorders \| 1 C0007286 \| carpal tunnel syndrome \| 1 C0022573 \| keratoconjunctivitis \| 1 C0011848 \| diabetes insipidus \| 1 C0270549 \| generalized anxiety disorder \| 1 C0003460 \| anuria \| 1 C0042345 \| varicosities \| 1 C0547030 \| visual disturbance \| 1 C0085293 \| hepatitis e \| 1 C0339204 \| staphyloma \| 1 C1956257 \| pulmonic stenosis \| 1 C0032000 \| pituitary adenomas \| 1 C1565489 \| renal insufficiency \| 1 C0022658 \| kidney disease \| 1 C0345967 \| malignant mesothelioma \| 1 C0017605 \| narrow angle glaucoma \| 1 C0162871 \| abdominal aortic aneurysm \| 1 C1334240 \| intracranial germinoma \| 1 C0021933 \| intestinal invagination \| 1 C0026269 \| mitral valve stenosis \| 1 C0015674 \| chronic fatigue syndrome \| 1 C0017168 \| acid reflux \| 1 C0040425 \| tonsillitis \| 1 C0036421 \| systemic sclerosis \| 1 C0733682 \| x-linked hypophosphatemia \| 1 C0002892 \| pernicious anemia \| 1 C0011880 \| diabetic ketoacidosis \| 1 C0751265 \| learning disability \| 1 C0042165 \| anterior uveitis \| 1 C0010273 \| crouzon syndrome \| 1 C0024291 \| hemophagocytic syndrome \| 1 C0036220 \| kaposi's sarcoma \| 1 C0027765 \| neurological disorder \| 1 C0036646 \| senile cataract \| 1 C0027849 \| neuroleptic malignant syndrome \| 1 C0018213 \| graves' disease \| 1 C0030517 \| parathyroid dysfunction \| 1 C0021775 \| intermittent claudication \| 1 C0553662 \| juvenile rheumatoid arthritis \| 1 C0034212 \| pyoderma \| 1 C0037274 \| cutaneous disorders \| 1 C0031269 \| peutz-jeghers syndrome \| 1 C1961099 \| t-cell acute lymphoblastic leukemia \| 1 C0042847 \| vitamin b12 defic \| 1 C0017658 \| glomerulonephritis \| 1 C0334306 \| villous adenocarcinoma \| 1 C0023903 \| liver cancer \| 1 C0027022 \| myeloproliferative disease \| 1 C0002418 \| amblyopia \| 1 C0205769 \| myxopapillary ependymoma \| 1 C0206669 \| hepatic adenoma \| 1 C0032460 \| polycystic ovaries \| 1 C0004352 \| autistic disorder \| 1 C0035334 \| retinitis pigmentosa \| 1 C0085278 \| antiphospholipid syndrome \| 1 C1704273 \| endometrial polyp \| 1 C0036472 \| scrub typhus \| 1 C0033687 \| proteinuria \| 1 C0426970 \| spastic quadriplegia \| 1 C0011633 \| dermatomyositis \| 1 C0085642 \| livedo reticularis \| 1 C1368041 \| pancreatic somatostatinoma \| 1 C0264716 \| chronic heart failure \| 1 C0017668 \| focal segmental glomerulosclerosis \| 1 C0025048 \| meconium aspiration syndrome \| 1 C0019348 \| herpes simplex \| 1 C0032326 \| pneumothorax \| 1 C0013537 \| eclampsia \| 1 C0005697 \| neurogenic bladder \| 1 C0334488 \| clear cell sarcoma of the kidney \| 1 C0017612 \| open angle glaucoma \| 1 C0006277 \| bronchitis \| 1 C0206667 \| adrenal adenoma \| 1 C0041471 \| typhus \| 1 C0175697 \| van der woude syndrome \| 1 C0010403 \| cryoglobulinemia \| 1 C0040127 \| thyroid storm \| 1 C0025064 \| mediastinitis \| 1 C0023895 \| liver disease \| 1 C0036529 \| secondary cardiomyopathy \| 1 C0242429 \| sore throat \| 1 C0023234 \| perthes disease \| 1 C0281267 \| bilateral breast carcinoma \| 1 C0154143 \| toxic multinodular goitre \| 1 C0206138 \| crest syndrome \| 1 C0242666 \| protein s deficiency \| 1 C0035333 \| retinitis \| 1 C0206674 \| villous adenoma \| 1 C0037661 \| somatostatinomas \| 1 C0392784 \| dermatofibrosarcoma protuberans \| 1 C0020807 \| idiopathic pulmonary hemosiderosis \| 1 C0030312 \| bone marrow failure \| 1 C0242647 \| mucosa-associated lymphoid tissue lymphoma \| 1 C0078918 \| oculocutaneous albinism \| 1 C0004096 \| asthma \| 1 C0028242 \| nocardiosis \| 1 C0039730 \| thalassemia \| 1 C0029124 \| optic nerve atrophy \| 1 C0019655 \| histoplasmosis \| 1 C0151744 \| myocardial ischemia \| 1 C0018021 \| goitre \| 1 C0035372 \| rett syndrome \| 1 C0038012 \| spondylitis \| 1 C0024301 \| follicular lymphoma \| 1 C0403416 \| crescentic glomerulonephritis \| 1 C0023434 \| lymphocytic lymphoma \| 1 C0014869 \| reflux esophagitis \| 1 C0036992 \| short bowel syndrome \| 1 C0035435 \| rheumatic diseases \| 1 C0376545 \| hematologic malignancies \| 1 C0270612 \| leukoencephalopathy \| 1 C0016667 \| fragile x syndrome \| 1 C0021390 \| inflammatory bowel disease \| 1 C0376480 \| gingival overgrowth \| 1 C0023470 \| myelogenous leukemia \| 1 C0151311 \| cranial nerve palsy \| 1 C0037274 \| dermatological disorder \| 1 C0039743 \| thanatophoric dysplasia \| 1 C0020626 \| hypoparathyroidism \| 1 C0026636 \| oral disease \| 1 C0013295 \| duodenal ulcer \| 1 C0024586 \| serotonin syndrome \| 1 C0023343 \| hansen's disease \| 1 C0162872 \| thoracic aortic aneurysm \| 1 C0008625 \| chromosomal abnormality \| 1 C0041349 \| tubulointerstitial nephritis \| 1 C0265343 \| vertebral anomalies \| 1 C0013884 \| lymphatic filariasis \| 1 C0036202 \| sarcoidosis \| 1 C0025235 \| melkersson-rosenthal syndrome \| 1 C0684249 \| lung carcinoma \| 1 C0018920 \| cavernoma \| 1 C0020450 \| hyperemesis gravidarum \| 1 C0001623 \| adrenal insufficiency \| 1 C0023798 \| lipomas \| 1 C0017612 \| open-angle glaucoma \| 1 C0276357 \| swine influenza \| 1 C0039585 \| testicular feminization syndrome \| 1 C0751778 \| progressive myoclonus epilepsy \| 1 C0020598 \| hypoglycaemia \| 1 C0024408 \| machado-joseph disease \| 1 C0032305 \| pneumocystis \| 1 C0034065 \| pulmonary embolism \| 1 C0553662 \| juvenile chronic arthritis \| 1 C0002312 \| hemoglobin h disease \| 1 C0206083 \| central pontine myelinolysis \| 1 C0268450 \| gitelman syndrome \| 1 C0031046 \| pericarditis \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:21) 79923 \| NANOG \| DISEASES 1593 \| CYP27A1 \| DISEASES 4072 \| EPCAM \| DISEASES 10058 \| ABCB6 \| DISEASES 2064 \| ERBB2 \| DISEASES 3251 \| HPRT1 \| DISEASES 7015 \| TERT \| DISEASES 2629 \| GBA \| DISEASES 23583 \| SMUG1 \| DISEASES 9260 \| PDLIM7 \| DISEASES 1999 \| ELF3 \| DISEASES 911 \| CD1C \| DISEASES 3725 \| JUN \| DISEASES 727837 \| SSX2B \| DISEASES 1471 \| CST3 \| DISEASES 4689 \| NCF4 \| DISEASES 4905 \| NSF \| DISEASES 9058 \| SLC13A2 \| DISEASES 284111 \| SLC13A5 \| DISEASES 5027 \| P2RX7 \| DISEASES 8972 \| MGAM \| DISEASES
Locus	(Waiting for update.)

Disease ID	1391
Disease	n syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:17) HP:0003220 \| Abnormality of chromosome stability HP:0000492 \| Abnormality of the eyelid HP:0000505 \| Visual impairment HP:0001249 \| Mental retardation HP:0000047 \| Hypospadias HP:0002664 \| Neoplasia HP:0000028 \| Cryptorchidism HP:0000485 \| Megalocornea HP:0001249 \| Intellectual disability HP:0005517 \| T-cell lymphoma/leukemia HP:0008619 \| Bilateral sensorineural hearing impairment HP:0012374 \| Abnormality of the globe HP:0001909 \| Leukemia HP:0001263 \| Global developmental delay HP:0000505 \| Poor vision HP:0000365 \| Hearing impairment HP:0001257 \| Spasticity
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:767) HP:0012531 \| Pain \| 87 HP:0002617 \| Aneurysmal dilatation \| 41 HP:0001909 \| Leukemia \| 38 HP:0001249 \| Mental retardation \| 35 HP:0012532 \| Chronic pain \| 34 HP:0002647 \| Aortic dissection \| 30 HP:0002664 \| Neoplasia \| 28 HP:0100543 \| Cognitive deficits \| 23 HP:0000726 \| Dementia \| 22 HP:0001263 \| Developmental retardation \| 22 HP:0000822 \| Hypertension \| 19 HP:0001513 \| Obesity \| 18 HP:0100806 \| Sepsis \| 17 HP:0002104 \| Absence of spontaneous respiration \| 17 HP:0010535 \| Sleep apnea \| 16 HP:0001627 \| Congenital heart defects \| 16 HP:0000855 \| Insulin resistance \| 15 HP:0001297 \| Cerebral vascular events \| 13 HP:0000821 \| Underactive thyroid \| 13 HP:0001638 \| Cardiomyopathy \| 13 HP:0001083 \| Dislocated lenses \| 13 HP:0100753 \| Schizophrenia \| 12 HP:0002870 \| Obstructive sleep apnea \| 12 HP:0000501 \| Glaucoma \| 12 HP:0004322 \| Stature below 3rd percentile \| 12 HP:0002960 \| Autoimmune condition \| 12 HP:0001629 \| Ventricular septal defects \| 11 HP:0000956 \| Keratosis nigricans \| 11 HP:0001369 \| Arthritis \| 11 HP:0001903 \| Anemia \| 11 HP:0006695 \| Atrioventricular septal defect, partial \| 11 HP:0030731 \| Carcinoma \| 11 HP:0000789 \| Infertility \| 10 HP:0000716 \| Depression \| 10 HP:0012324 \| Myeloid leukemia \| 10 HP:0002138 \| Subarachnoid hemorrhage \| 10 HP:0001631 \| Atria septal defect \| 10 HP:0002665 \| Lymphoma \| 10 HP:0004836 \| Acute promyelocytic leukemia \| 10 HP:0000969 \| Dropsy \| 9 HP:0002027 \| Abdominal pain \| 9 HP:0002090 \| Pneumonia \| 9 HP:0001945 \| Fever \| 9 HP:0001003 \| Multiple lentigines \| 9 HP:0002315 \| Headaches \| 9 HP:0001250 \| Seizures \| 9 HP:0001363 \| Early fusion of cranial sutures \| 8 HP:0002721 \| Immunodeficiency \| 8 HP:0000709 \| Psychosis \| 8 HP:0004942 \| Aortic aneurysm \| 8 HP:0000135 \| Hypogonadism \| 8 HP:0005681 \| Juvenile idiopathic arthritis \| 8 HP:0002608 \| Celiac disease \| 8 HP:0001733 \| Pancreatic inflammation \| 8 HP:0100790 \| Hernia \| 7 HP:0000518 \| Cataract \| 7 HP:0001394 \| Hepatic cirrhosis \| 7 HP:0002488 \| Acute leukemias \| 7 HP:0002725 \| Systemic lupus erythematosus \| 7 HP:0002902 \| Hyponatremia \| 7 HP:0000708 \| Behavioral problems \| 7 HP:0005547 \| Myeloproliferative disorder \| 7 HP:0000541 \| Detached retina \| 7 HP:0006721 \| Acute lymphocytic leukemia \| 7 HP:0004808 \| Acute myelogenous leukemia \| 6 HP:0002650 \| Scoliosis \| 6 HP:0002615 \| Low blood pressure \| 6 HP:0001548 \| Overgrowth \| 6 HP:0100822 \| Rectocele \| 6 HP:0009830 \| Peripheral neuritis \| 6 HP:0002014 \| Diarrhea \| 6 HP:0001658 \| Myocardial infarction \| 6 HP:0000717 \| Autism \| 6 HP:0002625 \| Blood clot in a deep vein \| 6 HP:0011034 \| Amyloid disease \| 6 HP:0001370 \| Rheumatoid arthritis \| 6 HP:0030907 \| Thunderclap headache \| 6 HP:0001999 \| Facial dysmorphism \| 6 HP:0000618 \| Blindness \| 6 HP:0002878 \| Respiratory failure \| 6 HP:0004936 \| Blood clot in vein \| 6 HP:0000563 \| Conical cornea \| 6 HP:0003418 \| Back pain \| 6 HP:0002511 \| Late-onset form of familial Alzheimer disease \| 6 HP:0000739 \| Anxiety \| 6 HP:0002092 \| Pulmonary artery hypertension \| 6 HP:0001649 \| Tachycardia \| 6 HP:0012533 \| Allodynia \| 5 HP:0001644 \| Congestive cardiomyopathy \| 5 HP:0001639 \| Hypertrophic cardiomyopathy \| 5 HP:0001007 \| Hirsutism \| 5 HP:0003002 \| Breast carcinoma \| 5 HP:0000365 \| Hearing impairment \| 5 HP:0000824 \| Growth hormone deficiency \| 5 HP:0000820 \| Thyroid abnormality \| 5 HP:0002140 \| Ischemic stroke \| 5 HP:0000924 \| Abnormality of the skeletal system \| 5 HP:0001268 \| Mental deterioration \| 5 HP:0011947 \| Respiratory infection \| 5 HP:0100775 \| Dural ectasia \| 5 HP:0030839 \| Knee pain \| 5 HP:0003155 \| Hyperphosphatasia \| 5 HP:0001674 \| Complete atrioventricular septal defect \| 5 HP:0012378 \| Fatigue \| 5 HP:0000252 \| Small head circumference \| 5 HP:0000670 \| Dental caries \| 5 HP:0001132 \| Lens subluxation \| 5 HP:0000158 \| Abnormally large tongue \| 5 HP:0001342 \| Intracerebral hemorrhage \| 5 HP:0000078 \| Genital abnormalities \| 4 HP:0002063 \| Muscle rigidity \| 4 HP:0000486 \| Squint eyes \| 4 HP:0005305 \| Cerebral vein thrombosis \| 4 HP:0001061 \| Acne \| 4 HP:0003003 \| Colon cancer \| 4 HP:0001257 \| Spasticity \| 4 HP:0001735 \| Acute pancreatitis \| 4 HP:0002671 \| Basalioma \| 4 HP:0004395 \| Malnutrition \| 4 HP:0003470 \| Inability to move \| 4 HP:0003774 \| End-stage renal failure \| 4 HP:0012189 \| Hodgkin disease \| 4 HP:0003467 \| Atlantoaxial instability \| 4 HP:0000568 \| Abnormally small globe of eye \| 4 HP:0000083 \| Renal insufficiency \| 4 HP:0000458 \| Anosmia \| 4 HP:0002516 \| Intracranial pressure elevation \| 4 HP:0008064 \| Ichthyosis \| 4 HP:0000738 \| Sensory hallucination \| 4 HP:0001663 \| Ventricular fibrillation \| 4 HP:0002571 \| Achalasia \| 4 HP:0002576 \| Intussusception \| 4 HP:0001878 \| Haemolytic anaemia \| 4 HP:0012245 \| Sex reversal \| 4 HP:0000819 \| Diabetes mellitus \| 4 HP:0001336 \| Myoclonic jerks \| 4 HP:0000147 \| Sclerocystic ovaries \| 4 HP:0002827 \| Hip dislocation \| 4 HP:0000407 \| sensorineural hearing loss \| 4 HP:0100315 \| Lewy bodies \| 4 HP:0001269 \| Hemiparesis \| 4 HP:0002570 \| Steatorrhea \| 4 HP:0001724 \| Aortic dilatation \| 4 HP:0100033 \| Tic disorder \| 4 HP:0001941 \| acidemia \| 4 HP:0002097 \| Pulmonary emphysema \| 4 HP:0001671 \| Abnormality of the cardiac septa \| 4 HP:0003419 \| Low back pain \| 4 HP:0001942 \| Metabolic acidosis \| 3 HP:0100724 \| Hypercoagulability \| 3 HP:0002884 \| Hepatoblastoma \| 3 HP:0000175 \| Palatoschisis \| 3 HP:0001698 \| Pericardial effusions \| 3 HP:0001279 \| Syncope \| 3 HP:0002633 \| Vasculitis \| 3 HP:0009800 \| gestational diabetes \| 3 HP:0001298 \| Encephalopathy \| 3 HP:0100512 \| Vitamin D deficiency \| 3 HP:0012115 \| Liver inflammation \| 3 HP:0002093 \| progressive respiratory failure \| 3 HP:0001087 \| Childhood glaucoma \| 3 HP:0000238 \| Nonsyndromal hydrocephalus \| 3 HP:0100660 \| Dyskinesis \| 3 HP:0001097 \| Keratoconjunctivitis sicca \| 3 HP:0003198 \| Myopathic changes \| 3 HP:0012539 \| Non-Hodgkin lymphoma \| 3 HP:0030053 \| Stiff skin \| 3 HP:0011950 \| Bronchiolitis \| 3 HP:0002669 \| Osteosarcoma \| 3 HP:0100584 \| Endocarditis \| 3 HP:0100704 \| Cortical visual impairment \| 3 HP:0001634 \| Mitral valve prolapse \| 3 HP:0001332 \| Dystonia \| 3 HP:0001402 \| Hepatocellular carcinoma \| 3 HP:0002720 \| Decreased immunoglobulin A \| 3 HP:0001287 \| Meningitis \| 3 HP:0002202 \| Pleural effusion \| 3 HP:0001270 \| Motor retardation \| 3 HP:0001948 \| Alkalosis \| 3 HP:0000836 \| Overactive thyroid \| 3 HP:0011134 \| Mild fever \| 3 HP:0002076 \| Migraine headaches \| 3 HP:0002901 \| Hypocalcemia \| 3 HP:0002500 \| Leukoaraiosis \| 3 HP:0001289 \| Confusion \| 3 HP:0000565 \| Inward turning of one or both eyes \| 3 HP:0006733 \| Acute megakaryocytic leukemia \| 3 HP:0040075 \| Hypopituitarism \| 3 HP:0002015 \| Swallowing difficulty \| 3 HP:0045005 \| Neural tube defect \| 3 HP:0000718 \| Aggressive behaviour \| 3 HP:0010628 \| Facial palsy, unilateral or bilateral \| 3 HP:0011946 \| Constrictive bronchiolitis \| 3 HP:0002381 \| Aphasia \| 3 HP:0003560 \| Muscular dystrophy \| 3 HP:0007302 \| Bipolar disorder \| 3 HP:0000704 \| Pyorrhea \| 3 HP:0001873 \| Low platelet count \| 3 HP:0002019 \| Dyschezia \| 3 HP:0008462 \| Cervical instability \| 3 HP:0002751 \| Kyphoscoliosis \| 3 HP:0000141 \| Abnormal absence of menstruation \| 3 HP:0002035 \| Rectal prolapse \| 3 HP:0004756 \| Ventricular tachycardia \| 3 HP:0000577 \| Exotropia \| 3 HP:0002251 \| Hirschsprung megacolon \| 3 HP:0001635 \| Congestive heart failure \| 3 HP:0003287 \| Abnormality of mitochondrial metabolism \| 3 HP:0002597 \| Abnormality of blood vessels \| 2 HP:0000767 \| Funnel chest \| 2 HP:0000526 \| Absent iris \| 2 HP:0003179 \| Protrusio acetabulae \| 2 HP:0000024 \| Inflammation of the prostate \| 2 HP:0002613 \| Biliary cirrhosis \| 2 HP:0009919 \| Retinoblastoma \| 2 HP:0000823 \| Pubertal delay \| 2 HP:0002890 \| Thyroid carcinoma \| 2 HP:0001876 \| Low blood cell count \| 2 HP:0012209 \| Juvenile myelomonocytic leukemia \| 2 HP:0000668 \| Failure of development of between one and six teeth \| 2 HP:0000016 \| Urinary retention \| 2 HP:0000689 \| Misalignment of upper and lower dental arches \| 2 HP:0000554 \| Uveitis \| 2 HP:0003077 \| Hyperlipidemia \| 2 HP:0002094 \| Dyspnea \| 2 HP:0000858 \| Menstrual irregularity \| 2 HP:0002018 \| Nausea \| 2 HP:0001919 \| Acute renal failure \| 2 HP:0001510 \| Growth deficiency \| 2 HP:0030218 \| Punding \| 2 HP:0010885 \| Aseptic necrosis \| 2 HP:0000802 \| Erectile dysfunction \| 2 HP:0001695 \| Cardiac arrest \| 2 HP:0001272 \| Cerebellar atrophy \| 2 HP:0100528 \| Pleuropulmonary blastoma \| 2 HP:0002099 \| Asthma \| 2 HP:0040169 \| Loose anagen hair \| 2 HP:0010834 \| Trophic changes \| 2 HP:0012158 \| Carotid artery dissection \| 2 HP:0011850 \| Parotitis \| 2 HP:0010783 \| Erythema \| 2 HP:0100607 \| Painful menstruation \| 2 HP:0002098 \| Respiratory distress \| 2 HP:0012721 \| Venous malformations \| 2 HP:0001399 \| Liver failure \| 2 HP:0002119 \| Ventricular dilatation \| 2 HP:0000126 \| Hydronephrosis \| 2 HP:0000123 \| Nephritis \| 2 HP:0003256 \| Coagulopathy \| 2 HP:0000871 \| Panhypopituitarism \| 2 HP:0001824 \| Weight loss \| 2 HP:0001947 \| Renal tubular acidosis \| 2 HP:0001395 \| Hepatic fibrosis \| 2 HP:0001643 \| Persistent ductus arteriosus \| 2 HP:0002180 \| Neurodegeneration \| 2 HP:0001518 \| Small for gestational age \| 2 HP:0006280 \| Chronic pancreas inflammation \| 2 HP:0005214 \| Bowel obstruction \| 2 HP:0000528 \| Absence of eyeballs \| 2 HP:0001252 \| Hypotonia \| 2 HP:0011097 \| Salaam convulsions \| 2 HP:0012450 \| Chronic constipation \| 2 HP:0002637 \| Brain ischemia \| 2 HP:0002861 \| Melanoma \| 2 HP:0001650 \| Valvular aortic stenosis \| 2 HP:0002133 \| Status epilepticus \| 2 HP:0011069 \| Extra teeth \| 2 HP:0000556 \| Retinal dystrophy \| 2 HP:0100280 \| Morbus Crohn \| 2 HP:0030357 \| Small cell lung carcinoma \| 2 HP:0012180 \| Arterial cystic medial necrosis \| 2 HP:0002840 \| Lymphadenitis \| 2 HP:0000089 \| Small kidneys \| 2 HP:0004415 \| Pulmonary artery stenosis \| 2 HP:0000491 \| Corneal inflammation \| 2 HP:0002863 \| Myelodysplastic syndrome \| 2 HP:0008066 \| Skin bullae \| 2 HP:0002242 \| Enteropathy \| 2 HP:0012230 \| Rhegmatogenous retinal detachment \| 2 HP:0001678 \| Atrioventricular block \| 2 HP:0012486 \| Inflammation of spinal cord \| 2 HP:0002808 \| Gibbus deformity \| 2 HP:0009592 \| Astrocytoma \| 2 HP:0100661 \| Trigeminal neuralgia \| 2 HP:0000545 \| Near sightedness \| 2 HP:0010618 \| Ovarian fibroma \| 2 HP:0012469 \| Infantile spasms \| 2 HP:0100522 \| Thymoma \| 2 HP:0000217 \| Dry mouth syndrome \| 2 HP:0011675 \| Arrhythmias \| 2 HP:0002153 \| Elevated serum potassium levels \| 2 HP:0001943 \| Hypoglycemia \| 2 HP:0001251 \| Ataxia \| 2 HP:0000842 \| Elevated insulin level \| 2 HP:0002445 \| Paralysis of all four limbs \| 2 HP:0001409 \| Portal hypertension \| 2 HP:0012393 \| Allergy \| 2 HP:0000220 \| Velopharyngeal insufficiency \| 2 HP:0000274 \| Hypoplasia of face \| 2 HP:0001680 \| Coarctation of aorta \| 2 HP:0008209 \| Premature ovarian failure \| 2 HP:0001508 \| Weight faltering \| 2 HP:0000100 \| Nephrosis \| 2 HP:0000952 \| Yellow skin \| 2 HP:0012622 \| Chronic kidney disease \| 2 HP:0001541 \| Ascites \| 2 HP:0000405 \| Conductive hearing loss \| 2 HP:0000347 \| Hypoplasia of mandible \| 2 HP:0004944 \| Cerebral artery aneurysm \| 2 HP:0001880 \| Eosinophilia \| 2 HP:0010702 \| Hypergammaglobulinaemia \| 2 HP:0000934 \| Chondrocalcinosis \| 2 HP:0002885 \| Medulloblastoma \| 2 HP:0002045 \| Abnormally low body temperature \| 2 HP:0000256 \| Macrocrania \| 2 HP:0001645 \| Sudden cardiac death \| 2 HP:0040185 \| Macrothrombocytopenia \| 2 HP:0030838 \| Hip pain \| 2 HP:0002013 \| Emesis \| 2 HP:0000750 \| Late-onset speech development \| 2 HP:0004937 \| Pulmonary artery aneurysm \| 2 HP:0001653 \| Mitral valve insufficiency \| 2 HP:0002028 \| Chronic diarrhea \| 2 HP:0001647 \| Bicuspid aortic valve \| 2 HP:0001997 \| Gout \| 2 HP:0010524 \| Agnosia \| 2 HP:0000473 \| Spasmodic torticollis \| 2 HP:0001970 \| Interstitial nephritis \| 2 HP:0002758 \| Osteoarthritis \| 2 HP:0000776 \| Diaphragmatic hernia \| 2 HP:0001396 \| Cholestasis \| 2 HP:0008341 \| Renal tubular acidosis, type I \| 2 HP:0002167 \| Speech disorder \| 2 HP:0002277 \| Horner's syndrome \| 2 HP:0002900 \| Hypokalemia \| 2 HP:0003765 \| Psoriasis \| 2 HP:0007002 \| Motor axonal neuropathy \| 2 HP:0001380 \| Joint ligamentous laxity \| 2 HP:0001337 \| Tremor \| 2 HP:0003414 \| Atlantoaxial subluxation \| 2 HP:0040049 \| Macular edema \| 2 HP:0100594 \| Esophageal web \| 2 HP:0005263 \| Gastritis \| 1 HP:0011892 \| Vitamin K deficiency \| 1 HP:0005528 \| Bone marrow hypoplasia \| 1 HP:0001138 \| Damaged optic nerve \| 1 HP:0000572 \| Visual loss \| 1 HP:0000546 \| Retinal degeneration \| 1 HP:0000648 \| Optic-nerve degeneration \| 1 HP:0000327 \| Maxillary micrognathia \| 1 HP:0001264 \| Spastic diplegia \| 1 HP:0009763 \| Limb pain \| 1 HP:0012125 \| Prostate cancer \| 1 HP:0000958 \| Xerosis \| 1 HP:0100601 \| Eclampsia \| 1 HP:0000202 \| Oral clefting \| 1 HP:0003072 \| Hypercalcemia \| 1 HP:0001681 \| Angina pectoris \| 1 HP:0001022 \| Achromasia \| 1 HP:0000608 \| Macular degeneration \| 1 HP:0011664 \| Left ventricular non-compaction cardiomyopathy \| 1 HP:0001274 \| Absent corpus callosum \| 1 HP:0002659 \| Increased tendency to fractures \| 1 HP:0006765 \| Chondrosarcoma \| 1 HP:0003219 \| Ethylmalonic aciduria \| 1 HP:0003401 \| Paresthesia \| 1 HP:0002619 \| Varicose veins \| 1 HP:0000846 \| Hypoadrenalism \| 1 HP:0030736 \| Sacrococcygeal teratoma \| 1 HP:0011682 \| Membranous ventricular septal defect \| 1 HP:0001371 \| Flexion contractures of joints \| 1 HP:0003468 \| Vertebral anomalies \| 1 HP:0010450 \| Narrowing of the esophagus \| 1 HP:0100598 \| Pulmonary oedema \| 1 HP:0000695 \| Natal teeth \| 1 HP:0010297 \| Bifurcated tongue \| 1 HP:0004602 \| Fusion of cervical vertebrae c2-3 \| 1 HP:0012329 \| Angioblastoma \| 1 HP:0001057 \| Aplasia cutis congenita \| 1 HP:0011968 \| Feeding difficulties \| 1 HP:0010543 \| Opsoclonus \| 1 HP:0002527 \| Falls \| 1 HP:0000979 \| Purpura \| 1 HP:0011225 \| Epiblepharon \| 1 HP:0001718 \| Mitral stenosis \| 1 HP:0007260 \| Type II lissencephaly \| 1 HP:0006689 \| Bacterial endocarditis \| 1 HP:0002580 \| Volvulus \| 1 HP:0012758 \| Neurodevelopmental delay \| 1 HP:0002970 \| Genu varum \| 1 HP:0030084 \| Clinodactyly \| 1 HP:0002524 \| Cataplexy \| 1 HP:0002487 \| Muscle spasms \| 1 HP:0000602 \| Ophthalmoplegia \| 1 HP:0100842 \| Septo-optic dysplasia \| 1 HP:0002622 \| Dissecting aortic aneurysm \| 1 HP:0200058 \| Angiosarcoma \| 1 HP:0008850 \| Marked growth retardation \| 1 HP:0030833 \| Neck pain \| 1 HP:0100699 \| Scarring \| 1 HP:0003076 \| Glucosuria \| 1 HP:0040262 \| Glue ear \| 1 HP:0002352 \| Leukoencephalopathy \| 1 HP:0001335 \| Bimanual synkinesia \| 1 HP:0004953 \| Abdominal aortic aneurysm \| 1 HP:0010828 \| Hemifacial spasm \| 1 HP:0001712 \| Left ventricular hypertrophy \| 1 HP:0000710 \| Hyperorality \| 1 HP:0003281 \| Increased ferritin \| 1 HP:0004326 \| Cachexia \| 1 HP:0002804 \| Arthrogryposis multiplex congenita \| 1 HP:0002036 \| Hiatus hernia \| 1 HP:0001266 \| Choreoathetosis \| 1 HP:0200034 \| Papule \| 1 HP:0000028 \| Cryptorchidism \| 1 HP:0000999 \| Pyoderma \| 1 HP:0030149 \| Cardiovascular shock \| 1 HP:0012032 \| Lipoma \| 1 HP:0008213 \| Pituitary gonadotropin deficiency \| 1 HP:0001052 \| port-wine stain \| 1 HP:0100014 \| Macular pucker \| 1 HP:0007957 \| Corneal clouding \| 1 HP:0003006 \| Neuroblastoma \| 1 HP:0012805 \| Iris transillumination defect \| 1 HP:0030157 \| Flank pain \| 1 HP:0012714 \| Severe hearing loss \| 1 HP:0002539 \| Cortical dysplasia \| 1 HP:0012619 \| Multiple pouches in bladder wall \| 1 HP:0000096 \| Glomerulosclerosis \| 1 HP:0100243 \| Leiomyosarcoma \| 1 HP:0001710 \| Conotruncal heart defects \| 1 HP:0045073 \| Serositis \| 1 HP:0003128 \| Lactic acidosis \| 1 HP:0010864 \| Early and severe mental retardation \| 1 HP:0005521 \| Disseminated intravascular coagulation \| 1 HP:0030854 \| Scleral staphyloma \| 1 HP:0003074 \| High blood glucose \| 1 HP:0030784 \| Anomic aphasia \| 1 HP:0004409 \| Decreased smell sensation \| 1 HP:0002039 \| Anorexia \| 1 HP:0000248 \| Brachycephaly \| 1 HP:0001410 \| Decreased liver function \| 1 HP:0001338 \| Partial agenesis of the corpus callosum \| 1 HP:0000975 \| Increased sweating \| 1 HP:0100026 \| Arteriovenous malformation \| 1 HP:0030666 \| Retinal neovascularisation \| 1 HP:0002354 \| Memory loss \| 1 HP:0100749 \| Thoracic pain \| 1 HP:0001993 \| Ketoacidosis \| 1 HP:0001956 \| Centripetal obesity \| 1 HP:0000275 \| Decreased width of face \| 1 HP:0012387 \| Bronchitis \| 1 HP:0003546 \| Exercise intolerance \| 1 HP:0030767 \| Epignathus \| 1 HP:0002243 \| Protein-losing enteropathy \| 1 HP:0006702 \| Spontaneous coronary artery dissection \| 1 HP:0100562 \| Duplication of spinal cord \| 1 HP:0002893 \| Pituitary adenoma \| 1 HP:0004308 \| Ventricular arrhythmia \| 1 HP:0006824 \| Cranial nerve palsy \| 1 HP:0000112 \| Nephropathy \| 1 HP:0100825 \| Inflammation of the lips \| 1 HP:0010523 \| Alexia \| 1 HP:0010655 \| Stippled epiphyses \| 1 HP:0011734 \| Central adrenal insufficiency \| 1 HP:0002781 \| Upper airway obstruction \| 1 HP:0007417 \| Discoid lupus erythematosus \| 1 HP:0006775 \| Multiple myeloma \| 1 HP:0000371 \| Acute middle ear infection \| 1 HP:0100785 \| Insomnia \| 1 HP:0002895 \| Papillary thyroid carcinoma \| 1 HP:0002750 \| Delayed bone maturation \| 1 HP:0000953 \| Hyperpigmentation of the skin \| 1 HP:0001029 \| Poikiloderma \| 1 HP:0011998 \| Postprandial hyperglycemia \| 1 HP:0002463 \| Language impairment \| 1 HP:0002383 \| Encephalitis \| 1 HP:0009125 \| Lipodystrophy \| 1 HP:0030680 \| Abnormality of cardiovascular system morphology \| 1 HP:0200136 \| Oral-pharyngeal dysphagia \| 1 HP:0000722 \| Obsessive compulsive disorder \| 1 HP:0004383 \| Underdeveloped left heart \| 1 HP:0005280 \| Flat, nasal bridge \| 1 HP:0005160 \| Total anomalous pulmonary venous return \| 1 HP:0010614 \| Fibroma \| 1 HP:0010566 \| Hamartoma \| 1 HP:0007868 \| ARMD \| 1 HP:0006554 \| Acute hepatic failure \| 1 HP:0008942 \| Rhabdomyolysis, acute \| 1 HP:0000099 \| Glomerular nephritis \| 1 HP:0011473 \| Villous atrophy \| 1 HP:0200036 \| Skin nodule \| 1 HP:0012722 \| Heart block \| 1 HP:0002389 \| Large cavum septi pellucidi \| 1 HP:0006321 \| Multiple non-erupting permanent teeth \| 1 HP:0010536 \| Central sleep apnoea \| 1 HP:0001890 \| Autoimmune hemolytic anemia \| 1 HP:0001489 \| Posterior vitreous detachment \| 1 HP:0003777 \| Pili torti \| 1 HP:0006562 \| Viral hepatitis \| 1 HP:0012432 \| Chronic fatigue \| 1 HP:0001763 \| Pes planus \| 1 HP:0000965 \| Livedo reticularis \| 1 HP:0001605 \| Vocal cord paralysis \| 1 HP:0001260 \| Dysarthric speech \| 1 HP:0004319 \| Mineralocorticoid insufficiency \| 1 HP:0012420 \| Meconium staining of amniotic fluid \| 1 HP:0012444 \| Brain wasting \| 1 HP:0002958 \| Immune dysregulation \| 1 HP:0001949 \| Hypokalemic alkalosis \| 1 HP:0011900 \| Hypofibrinogenemia \| 1 HP:0003040 \| Arthropathy \| 1 HP:0200123 \| Chronic liver inflammation \| 1 HP:0012844 \| Trichilemmoma \| 1 HP:0000093 \| Proteinuria \| 1 HP:0012641 \| Decreased intracranial pressure \| 1 HP:0001760 \| Foot deformities \| 1 HP:0004430 \| Severe combined immunodeficiency \| 1 HP:0003477 \| Peripheral axonal neuropathy \| 1 HP:0004419 \| Recurrent thrombosis \| 1 HP:0100633 \| Inflammation of the esophagus \| 1 HP:0000651 \| Diplopia \| 1 HP:0000703 \| Dentinogenesis imperfecta \| 1 HP:0002170 \| Intracranial hemorrhage \| 1 HP:0001953 \| Diabetic ketosis \| 1 HP:0000873 \| Diabetes insipidus \| 1 HP:0001433 \| Enlarged liver and spleen \| 1 HP:0030855 \| Anterior staphyloma \| 1 HP:0000989 \| pruritis \| 1 HP:0002631 \| Ascending aortic aneurysm \| 1 HP:0010497 \| Sirenomelia \| 1 HP:0002308 \| Chiari malformation \| 1 HP:0002169 \| Clonus \| 1 HP:0100728 \| Germ cell neoplasia \| 1 HP:0004755 \| Supraventricular tachycardia \| 1 HP:0011903 \| Hemoglobin H \| 1 HP:0002612 \| Congenital hepatic fibrosis \| 1 HP:0002591 \| Voracious appetite \| 1 HP:0100777 \| Exostoses \| 1 HP:0009792 \| Teratoma \| 1 HP:0012210 \| Kidney malformation \| 1 HP:0001655 \| Patent foramen ovale \| 1 HP:0002271 \| Autonomic dysregulation \| 1 HP:0100502 \| Vitamin B12 deficiency \| 1 HP:0002442 \| Dyscalculia \| 1 HP:0001677 \| Coronary artery disease \| 1 HP:0002595 \| Gastrointestinal atony \| 1 HP:0200055 \| Small hand \| 1 HP:0004440 \| Craniosynostosis of coronal suture \| 1 HP:0005293 \| Venous insufficiency \| 1 HP:0009725 \| Bladder neoplasm \| 1 HP:0012538 \| Gluten sensitivity \| 1 HP:0002410 \| Aqueductal stenosis \| 1 HP:0100778 \| Cryoglobulinemia \| 1 HP:0000622 \| Blurred vision \| 1 HP:0002107 \| Collapsed lung \| 1 HP:0002396 \| Cogwheel rigidity \| 1 HP:0030834 \| Shoulder pain \| 1 HP:0000388 \| Otitis media \| 1 HP:0008007 \| Primary congenital glaucoma \| 1 HP:0012188 \| Hyperemesis gravidarum \| 1 HP:0004905 \| Vitamin A deficiency \| 1 HP:0001714 \| Ventricular hypertrophy \| 1 HP:0008843 \| Hip osteoarthritis \| 1 HP:0002020 \| Heartburn \| 1 HP:0000609 \| Optic nerve hypoplasia \| 1 HP:0000751 \| Personality changes \| 1 HP:0010049 \| Metacarpal hypoplasia \| 1 HP:0000589 \| Ocular coloboma \| 1 HP:0000494 \| Downward slanting palpebral fissures \| 1 HP:0100327 \| Cow milk allergy \| 1 HP:0003416 \| Spinal canal stenosis \| 1 HP:0001238 \| Slender fingers \| 1 HP:0003613 \| Antiphospholipid antibodies \| 1 HP:0008807 \| Dysplastic acetabulae \| 1 HP:0002144 \| Occult spinal dysraphism \| 1 HP:0000510 \| Retinitis pigmentosa \| 1 HP:0002575 \| Tracheoesophageal fistula \| 1 HP:0007700 \| Anterior segment dysgenesis \| 1 HP:0012122 \| Anterior uveitis \| 1 HP:0012020 \| Right aortic arch \| 1 HP:0000020 \| Bladder incontinence \| 1 HP:0010797 \| Hemangioblastoma \| 1 HP:0000677 \| Failure of development of more than six teeth \| 1 HP:0003196 \| Short nose \| 1 HP:0000138 \| Ovarian cyst \| 1 HP:0007917 \| Tractional retinal detachment \| 1 HP:0000869 \| Secondary amenorrhea \| 1 HP:0100867 \| Duodenal stenosis/atresia \| 1 HP:0000659 \| Peters anomaly \| 1 HP:0001339 \| Lissencephaly \| 1 HP:0004373 \| Focal dystonia \| 1 HP:0002888 \| Ependymoma \| 1 HP:0004398 \| Peptic ulcer \| 1 HP:0005534 \| Transient myeloproliferative syndrome \| 1 HP:0012072 \| Aciduria \| 1 HP:0012120 \| Methymalonicaciduria \| 1 HP:0200114 \| Metabolic alkalosis \| 1 HP:0001347 \| Hyperreflexia \| 1 HP:0000768 \| Pectus carinatum \| 1 HP:0100805 \| Precocious menopause \| 1 HP:0001300 \| Parkinsonism \| 1 HP:0001096 \| Keratoconjunctivitis \| 1 HP:0001601 \| Laryngomalacia \| 1 HP:0005086 \| Knee osteoarthritis \| 1 HP:0002475 \| Myelomeningocele \| 1 HP:0000646 \| Wandering eyes \| 1 HP:0000470 \| Decreased cervical height \| 1 HP:0007875 \| Congenital blindness \| 1 HP:0100719 \| Lens coloboma \| 1 HP:0000766 \| Pectus deformity \| 1 HP:0010880 \| Increased nuchal translucency \| 1 HP:0000011 \| Neurogenic bladder \| 1 HP:0002089 \| Hypoplastic lungs \| 1 HP:0006882 \| Severe hydrocephalus \| 1 HP:0002947 \| Cervical kyphosis \| 1 HP:0001166 \| Long, slender fingers \| 1 HP:0008669 \| Abnormal spermatogenesis \| 1 HP:0000775 \| Diaphragmatic defect \| 1 HP:0004610 \| Narrow lumbar spinal canal \| 1 HP:0010481 \| Urethral valve \| 1 HP:0002459 \| Dysautonomia \| 1 HP:0004439 \| Crouzon syndrome \| 1 HP:0001046 \| Intermittent jaundice \| 1 HP:0003236 \| Elevated creatine kinase \| 1 HP:0004381 \| Supravalvular aortic stenosis \| 1 HP:0000674 \| Anodontia \| 1 HP:0012817 \| Noncompaction of the ventricular myocardium \| 1 HP:0007440 \| Generalized hyperpigmentation \| 1 HP:0012500 \| Papillomatous papule \| 1 HP:0001920 \| Renal artery stenosis \| 1 HP:0005191 \| Congenital knee dislocation \| 1 HP:0100519 \| Anuria \| 1 HP:0011741 \| Secondary hyperaldosteronism \| 1 HP:0006880 \| Hemangioblastoma, sporadic cerebellar \| 1 HP:0011505 \| Cystoid macular edema \| 1 HP:0012191 \| B-cell lymphoma \| 1 HP:0030692 \| Brain tumor \| 1 HP:0000661 \| Palpebral fissure narrowing on adduction \| 1 HP:0000127 \| Salt wasting \| 1 HP:0001539 \| Omphalocele \| 1 HP:0001006 \| Marked hypotrichosis \| 1 HP:0006725 \| Pancreatic adenocarcinoma \| 1 HP:0200059 \| Metastatic angiosarcoma \| 1 HP:0002835 \| Aspiration \| 1 HP:0000790 \| Hematuria \| 1 HP:0010807 \| Open bite between upper and lower teeth \| 1 HP:0000853 \| Goitre \| 1 HP:0011123 \| Skin inflammation \| 1 HP:0002858 \| Mengiomia \| 1 HP:0004976 \| Dislocations of the knees \| 1 HP:0011220 \| Prominent forehead \| 1 HP:0001290 \| Generalized hypotonia \| 1 HP:0011508 \| Macular hole \| 1 HP:0001751 \| Vestibular dysfunction \| 1 HP:0003228 \| High blood sodium levels \| 1 HP:0012418 \| Low blood oxygen level \| 1 HP:0012215 \| Testicular microlithiasis \| 1 HP:0012399 \| Bedsore \| 1 HP:0100495 \| Mastocytosis \| 1 HP:0001750 \| Single ventricle \| 1 HP:0002716 \| Lymph node hyperplasia \| 1 HP:0004387 \| Enterocolitis \| 1 HP:0000394 \| Lop ear \| 1 HP:0000015 \| Bladder diverticula \| 1 HP:0012820 \| Bilateral vocal cord paralysis \| 1 HP:0100716 \| Autoagression \| 1 HP:0000829 \| Hypoparathyroidism \| 1 HP:0002592 \| Stomach ulcer \| 1 HP:0001397 \| Hepatic steatosis \| 1 HP:0001642 \| Pulmonic stenosis \| 1 HP:0100697 \| Neurofibrosarcoma \| 1 HP:0200119 \| Acute liver inflammation \| 1 HP:0001944 \| Dehydration \| 1 HP:0004906 \| Hypernatremic dehydration \| 1 HP:0011645 \| Aneurysm of the aortic sinus \| 1 HP:0004763 \| Episodic supraventricular tachycardia \| 1 HP:0003073 \| Hypoalbuminaemia \| 1 HP:0100256 \| Neuritic plaques \| 1 HP:0008191 \| Thyroid agenesis \| 1 HP:0100310 \| Extradural hematoma \| 1 HP:0011663 \| Cardiomyopathy, right ventricular \| 1 HP:0007099 \| Arnold Chiari type I malformation \| 1 HP:0002588 \| Duodenal ulcer \| 1 HP:0010972 \| Anemia of inadequate production \| 1 HP:0200040 \| Epidermal inclusion cyst \| 1 HP:0000752 \| Hyperactive behavior \| 1 HP:0001048 \| Cavernous angioma \| 1 HP:0001067 \| Neurofibromas \| 1 HP:0000212 \| Gingival overgrowth \| 1 HP:0100726 \| Kaposi's sarcoma \| 1 HP:0009730 \| Rhabdomyoma \| 1 HP:0000490 \| Sunken eyes \| 1 HP:0003473 \| Fatigable weakness \| 1 HP:0000483 \| Astigmatism \| 1 HP:0012028 \| Hepatocellular adenoma \| 1 HP:0040189 \| Desquamation \| 1 HP:0005110 \| Atrial fibrillation \| 1 HP:0100813 \| Testicular torsion \| 1 HP:0030080 \| Burkitt lymphoma \| 1 HP:0000124 \| Renal tubular defect \| 1 HP:0008653 \| Crescentic glomerulonephritis \| 1 HP:0000835 \| Hypoplastic adrenal glands \| 1 HP:0002896 \| Liver cancer \| 1 HP:0100568 \| Endocrine neoplasia \| 1 HP:0001701 \| Pericarditis \| 1 HP:0001088 \| Brushfield spots \| 1 HP:0002510 \| Spastic quadriplegia \| 1 HP:0006510 \| Chronic obstructive pulmonary disease \| 1 HP:0100001 \| Malignant mesothelioma \| 1 HP:0012151 \| Hemothorax \| 1 HP:0011110 \| Inflammation of tonsils \| 1 HP:0008188 \| Thyroid dysplasia \| 1 HP:0010871 \| Ataxia, sensory \| 1 HP:0100022 \| Movement disorder \| 1 HP:0002667 \| Wilms tumor \| 1 HP:0002204 \| Pulmonary embolism \| 1 HP:0003422 \| Abnormal spinal segmentation \| 1 HP:0002907 \| Microhematuria \| 1 HP:0000777 \| Thymic hypoplasia \| 1 HP:0004743 \| Chronic tubulointerstitial nephritis \| 1 HP:0012727 \| Thoracic aortic aneurysm \| 1 HP:0003474 \| Sensory impairment \| 1 HP:0001019 \| Exfoliative dermititis \| 1 HP:0004417 \| Intermittent claudication \| 1 HP:0030404 \| Glucagonoma \| 1 HP:0002110 \| Bronchiectasis \| 1 HP:0009797 \| Cholesteatoma \| 1 HP:0002247 \| Duodenal atresia \| 1 HP:0002273 \| Tetraparesis \| 1 HP:0002375 \| Decreased spontaneous movement \| 1 HP:0430007 \| Symblepharon \| 1 HP:0002653 \| Bone pain \| 1 HP:0000369 \| Low-set ears \| 1 HP:0100786 \| Excessive sleepiness \| 1 HP:0011787 \| Central hypothyroidism \| 1 HP:0003768 \| Periodic paralysis \| 1 HP:0030214 \| Sex addiction \| 1 HP:0000162 \| Retraction of the tongue \| 1 HP:0006000 \| Ureteral obstruction \| 1 HP:0004872 \| Recurrent abdominal hernia \| 1 HP:0100820 \| Glomerulopathy \| 1 HP:0002067 \| Bradykinesia \| 1 HP:0002607 \| Anal incontinence \| 1 HP:0000097 \| focal glomerulosclerosis \| 1 HP:0003146 \| Decreased circulating cholesterol level \| 1 HP:0010957 \| Congenital posterior urethral valve \| 1 HP:0002135 \| Basal ganglia calcification \| 1 HP:0004927 \| Pulmonary artery dilatation \| 1 HP:0011106 \| Depleted blood volume \| 1 HP:0011499 \| Mydriasis \| 1 HP:0001618 \| Dysphonia \| 1 HP:0004969 \| peripheral pulmonary stenosis \| 1 HP:0002126 \| Polymicrogyria \| 1 HP:0001528 \| Hemihypertrophy \| 1 HP:0001281 \| Tetany \| 1 HP:0002206 \| Pulmonary fibrosis \| 1 HP:0001305 \| Dandy-Walker cyst \| 1 HP:0012416 \| Hypercarbia \| 1 HP:0001915 \| Aplastic anemia \| 1 HP:0000863 \| Neurohypophyseal diabetes insipidus \| 1 HP:0100620 \| Germinoma \| 1 HP:0100013 \| Tumours of the breast \| 1 HP:0012049 \| Spasmodic dysphonia \| 1 HP:0000104 \| Renal agenesis \| 1 HP:0003201 \| Rhabdomyolysis \| 1 HP:0000105 \| Renal enlargement \| 1

Disease ID	1391
Disease	n syndrome
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:0)
(Waiting for update.)

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000407	Sensorineural hearing impairment	MP:0006330	syndromic hearing impairment;HP:0100627	Displacement of the external urethral meatus

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0100543	Cognitive impairment	MP:0011250	abdominal situs ambiguus;HP:0000028	Cryptorchidism

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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