Symptoms, signs and abnormal clinical and laboratory findings, not elsewhere classified

Chapter18

Case/Control GWAS

GWAS of Chapter18

Statistics

Case Control
176123 284083

Top SNP Information

Associated Phenotypes

ID Name Top Correlation
HP: 0000008 Abnormal morphology of female internal genitalia 3/20
HP: 0000020 Urinary incontinence 1/20
HP: 0000031 Epididymitis 1/20
HP: 0000048 Bifid scrotum 1/20
HP: 0000077 Abnormality of the kidney 8/20
HP: 0000078 Abnormality of the genital system 6/20
HP: 0000079 Abnormality of the urinary system 4/20
HP: 0000080 Abnormality of reproductive system physiology 4/20
HP: 0000091 Abnormal renal tubule morphology 1/20
HP: 0000096 Glomerulosclerosis 1/20
HP: 0000119 Abnormality of the genitourinary system 6/20
HP: 0000130 Abnormality of the uterus 3/20
HP: 0000153 Abnormality of the mouth 1/20
HP: 0000157 Abnormality of the tongue 1/20
HP: 0000163 Abnormal oral cavity morphology 1/20
HP: 0000164 Abnormality of the dentition 2/20
HP: 0000168 Abnormality of the gingiva 2/20
HP: 0000211 Trismus 2/20
HP: 0000252 Microcephaly 1/20
HP: 0000276 Long face 1/20
HP: 0000277 Abnormality of the mandible 4/20
HP: 0000356 Abnormality of the outer ear 1/20
HP: 0000464 Abnormality of the neck 2/20
HP: 0000479 Abnormal retinal morphology 3/20
HP: 0000488 Retinopathy 2/20
HP: 0000502 Abnormal conjunctiva morphology 2/20
HP: 0000504 Abnormality of vision 1/20
HP: 0000543 Optic disc pallor 1/20
HP: 0000600 Abnormality of the pharynx 2/20
HP: 0000613 Photophobia 2/20
HP: 0000711 Restlessness 2/20
HP: 0000726 Dementia 1/20
HP: 0000729 Autistic behavior 1/20
HP: 0000735 Impaired social interactions 1/20
HP: 0000737 Irritability 1/20
HP: 0000745 Diminished motivation 1/20
HP: 0000746 Delusions 3/20
HP: 0000759 Abnormal peripheral nervous system morphology 4/20
HP: 0000812 Abnormal internal genitalia 4/20
HP: 0000828 Abnormality of the parathyroid gland 1/20
HP: 0000847 Abnormality of renin-angiotensin system 6/20
HP: 0000855 Insulin resistance 2/20
HP: 0000858 Irregular menstruation 3/20
HP: 0000925 Abnormality of the vertebral column 4/20
HP: 0000952 Jaundice 4/20
HP: 0000975 Hyperhidrosis 1/20
HP: 0000988 Skin rash 1/20
HP: 0001000 Abnormality of skin pigmentation 1/20
HP: 0001009 Telangiectasia 1/20
HP: 0001010 Hypopigmentation of the skin 1/20
HP: 0001025 Urticaria 1/20
HP: 0001028 Hemangioma 2/20
HP: 0001098 Abnormal fundus morphology 1/20
HP: 0001117 Sudden loss of visual acuity 1/20
HP: 0001194 Abnormalities of placenta or umbilical cord 3/20
HP: 0001197 Abnormality of prenatal development or birth 3/20
HP: 0001250 Seizure 1/20
HP: 0001268 Mental deterioration 3/20
HP: 0001279 Syncope 3/20
HP: 0001288 Gait disturbance 1/20
HP: 0001347 Hyperreflexia 2/20
HP: 0001396 Cholestasis 3/20
HP: 0001513 Obesity 1/20
HP: 0001518 Small for gestational age 3/20
HP: 0001557 Prenatal movement abnormality 2/20
HP: 0001558 Decreased fetal movement 2/20
HP: 0001560 Abnormality of the amniotic fluid 2/20
HP: 0001561 Polyhydramnios 1/20
HP: 0001574 Abnormality of the integument 1/20
HP: 0001600 Abnormality of the larynx 2/20
HP: 0001601 Laryngomalacia 1/20
HP: 0001622 Premature birth 2/20
HP: 0001627 Abnormal heart morphology 8/20
HP: 0001638 Cardiomyopathy 3/20
HP: 0001640 Cardiomegaly 1/20
HP: 0001649 Tachycardia 1/20
HP: 0001662 Bradycardia 1/20
HP: 0001711 Abnormal left ventricle morphology 6/20
HP: 0001713 Abnormal cardiac ventricle morphology 7/20
HP: 0001714 Ventricular hypertrophy 7/20
HP: 0001739 Abnormality of the nasopharynx 3/20
HP: 0001742 Nasal obstruction 1/20
HP: 0001787 Abnormal delivery 3/20
HP: 0001871 Abnormality of blood and blood-forming tissues 2/20
HP: 0001872 Abnormal thrombocyte morphology 2/20
HP: 0001873 Thrombocytopenia 2/20
HP: 0001876 Pancytopenia 2/20
HP: 0001877 Abnormal erythrocyte morphology 4/20
HP: 0001881 Abnormal leukocyte morphology 2/20
HP: 0001892 Abnormal bleeding 3/20
HP: 0001903 Anemia 4/20
HP: 0001909 Leukemia 1/20
HP: 0001915 Aplastic anemia 2/20
HP: 0001935 Microcytic anemia 3/20
HP: 0001939 Abnormality of metabolism/homeostasis 5/20
HP: 0001941 Acidosis 1/20
HP: 0001945 Fever 4/20
HP: 0001962 Palpitations 2/20
HP: 0001989 Fetal akinesia sequence 2/20
HP: 0002013 Vomiting 5/20
HP: 0002017 Nausea and vomiting 6/20
HP: 0002020 Gastroesophageal reflux 1/20
HP: 0002035 Rectal prolapse 2/20
HP: 0002036 Hiatus hernia 1/20
HP: 0002063 Rigidity 2/20
HP: 0002076 Migraine 1/20
HP: 0002077 Migraine with aura 1/20
HP: 0002083 Migraine without aura 3/20
HP: 0002104 Apnea 3/20
HP: 0002170 Intracranial hemorrhage 4/20
HP: 0002183 Phonophobia 2/20
HP: 0002205 Recurrent respiratory infections 3/20
HP: 0002240 Hepatomegaly 1/20
HP: 0002300 Mutism 2/20
HP: 0002304 Akinesia 1/20
HP: 0002315 Headache 3/20
HP: 0002360 Sleep disturbance 1/20
HP: 0002363 Abnormality of brainstem morphology 3/20
HP: 0002530 Axial dystonia 1/20
HP: 0002572 Episodic vomiting 4/20
HP: 0002574 Episodic abdominal pain 3/20
HP: 0002578 Gastroparesis 4/20
HP: 0002585 Abnormality of the peritoneum 1/20
HP: 0002587 Projectile vomiting 1/20
HP: 0002607 Bowel incontinence 2/20
HP: 0002686 Prenatal maternal abnormality 3/20
HP: 0002716 Lymphadenopathy 2/20
HP: 0002721 Immunodeficiency 3/20
HP: 0002733 Abnormality of the lymph nodes 2/20
HP: 0002754 Osteomyelitis 3/20
HP: 0002788 Recurrent upper respiratory tract infections 3/20
HP: 0002863 Myelodysplasia 4/20
HP: 0002875 Exertional dyspnea 1/20
HP: 0002960 Autoimmunity 2/20
HP: 0002977 Aplasia/Hypoplasia involving the central nervous system 3/20
HP: 0003010 Prolonged bleeding time 1/20
HP: 0003109 Hyperphosphaturia 3/20
HP: 0003110 Abnormality of urine homeostasis 4/20
HP: 0003112 Abnormality of serum amino acid level 3/20
HP: 0003201 Rhabdomyolysis 3/20
HP: 0003249 Genital ulcers 1/20
HP: 0003270 Abdominal distention 3/20
HP: 0003418 Back pain 3/20
HP: 0003422 Vertebral segmentation defect 3/20
HP: 0003493 Antinuclear antibody positivity 2/20
HP: 0003613 Antiphospholipid antibody positivity 2/20
HP: 0004324 Increased body weight 6/20
HP: 0004329 Abnormal posterior eye segment morphology 2/20
HP: 0004354 Abnormal circulating carboxylic acid concentration 2/20
HP: 0004360 Abnormality of acid-base homeostasis 3/20
HP: 0004364 Abnormal circulating nitrogen compound concentration 7/20
HP: 0004370 Abnormality of temperature regulation 4/20
HP: 0004375 Neoplasm of the nervous system 2/20
HP: 0004377 Hematological neoplasm 5/20
HP: 0004421 Elevated systolic blood pressure 6/20
HP: 0004445 Elliptocytosis 1/20
HP: 0004447 Poikilocytosis 3/20
HP: 0004755 Supraventricular tachycardia 1/20
HP: 0004756 Ventricular tachycardia 1/20
HP: 0004763 Paroxysmal supraventricular tachycardia 1/20
HP: 0004930 Abnormality of the pulmonary vasculature 3/20
HP: 0005115 Supraventricular arrhythmia 1/20
HP: 0005120 Abnormal cardiac atrium morphology 1/20
HP: 0005484 Postnatal microcephaly 1/20
HP: 0005505 Refractory anemia 2/20
HP: 0005561 Abnormality of bone marrow cell morphology 2/20
HP: 0005564 Absence of renal corticomedullary differentiation 1/20
HP: 0005622 Broad long bones 1/20
HP: 0005686 Patchy osteosclerosis 2/20
HP: 0005932 Abnormal renal corticomedullary differentiation 1/20
HP: 0006292 Abnormality of dental eruption 1/20
HP: 0006482 Abnormality of dental morphology 2/20
HP: 0006494 Aplasia/Hypoplasia involving bones of the feet 1/20
HP: 0006516 Hypersensitivity pneumonitis 1/20
HP: 0006579 Prolonged neonatal jaundice 2/20
HP: 0006772 Renal angiomyolipoma 3/20
HP: 0006775 Multiple myeloma 1/20
HP: 0007359 Focal-onset seizure 2/20
HP: 0007364 Aplasia/Hypoplasia of the cerebrum 1/20
HP: 0007379 Neoplasm of the genitourinary tract 2/20
HP: 0007550 Hypohidrosis or hyperhidrosis 1/20
HP: 0007663 Reduced visual acuity 2/20
HP: 0008047 Abnormality of the vasculature of the eye 4/20
HP: 0008065 Aplasia/Hypoplasia of the skin 1/20
HP: 0008069 Neoplasm of the skin 2/20
HP: 0008373 Puberty and gonadal disorders 3/20
HP: 0008677 Congenital nephrotic syndrome 1/20
HP: 0008696 Renal hamartoma 3/20
HP: 0008765 Auditory hallucinations 2/20
HP: 0008768 Inappropriate sexual behavior 1/20
HP: 0008940 Generalized lymphadenopathy 1/20
HP: 0009045 Exercise-induced rhabdomyolysis 3/20
HP: 0009124 Abnormal adipose tissue morphology 1/20
HP: 0009726 Renal neoplasm 1/20
HP: 0009763 Limb pain 3/20
HP: 0009792 Teratoma 1/20
HP: 0009816 Lower limb undergrowth 1/20
HP: 0009830 Peripheral neuropathy 4/20
HP: 0009887 Abnormality of hair pigmentation 1/20
HP: 0010302 Spinal cord tumor 3/20
HP: 0010310 Chylothorax 4/20
HP: 0010460 Abnormality of the female genitalia 3/20
HP: 0010535 Sleep apnea 3/20
HP: 0010614 Fibroma 2/20
HP: 0010658 Patchy changes of bone mineral density 2/20
HP: 0010662 Abnormality of the diencephalon 2/20
HP: 0010702 Increased antibody level in blood 2/20
HP: 0010726 Prominent corneal nerve fibers 1/20
HP: 0010766 Ectopic calcification 1/20
HP: 0010787 Genital neoplasm 2/20
HP: 0010832 Abnormality of pain sensation 2/20
HP: 0010935 Abnormality of the upper urinary tract 8/20
HP: 0010972 Anemia of inadequate production 3/20
HP: 0010987 Abnormal cellular immune system morphology 2/20
HP: 0010992 Stress urinary incontinence 1/20
HP: 0011001 Increased bone mineral density 1/20
HP: 0011015 Abnormal blood glucose concentration 1/20
HP: 0011025 Abnormal cardiovascular system physiology 4/20
HP: 0011028 Abnormality of blood circulation 1/20
HP: 0011034 Amyloidosis 2/20
HP: 0011061 Abnormality of dental structure 2/20
HP: 0011110 Tonsillitis 1/20
HP: 0011134 Low-grade fever 2/20
HP: 0011157 Focal sensory seizure 2/20
HP: 0011165 Focal sensory seizure with visual features 2/20
HP: 0011277 Abnormality of the urinary system physiology 7/20
HP: 0011282 Abnormality of hindbrain morphology 1/20
HP: 0011283 Abnormality of the metencephalon 1/20
HP: 0011338 Abnormality of mouth shape 1/20
HP: 0011410 Caesarian section 5/20
HP: 0011419 Placental abruption 2/20
HP: 0011442 Abnormal central motor function 1/20
HP: 0011444 Decorticate rigidity 2/20
HP: 0011628 Congenital defect of the pericardium 1/20
HP: 0011629 Total absence of the pericardium 1/20
HP: 0011711 Left anterior fascicular block 1/20
HP: 0011713 Left bundle branch block 1/20
HP: 0011747 Abnormality of the anterior pituitary 1/20
HP: 0011767 Abnormality of the parathyroid physiology 1/20
HP: 0011792 Neoplasm by histology 2/20
HP: 0011804 Abnormal muscle physiology 7/20
HP: 0011830 Abnormal oral mucosa morphology 1/20
HP: 0011854 Hemoperitoneum 3/20
HP: 0011873 Abnormal platelet count 2/20
HP: 0011893 Abnormal leukocyte count 2/20
HP: 0011902 Abnormal hemoglobin 3/20
HP: 0011921 Exudative pleural effusion 1/20
HP: 0011947 Respiratory tract infection 1/20
HP: 0011948 Recurrent acute respiratory tract infection 1/20
HP: 0011950 Bronchiolitis 1/20
HP: 0011999 Paranoia 1/20
HP: 0012031 Lipomatous tumor 1/20
HP: 0012086 Abnormal urinary color 1/20
HP: 0012115 Hepatitis 1/20
HP: 0012130 Abnormal erythroid lineage cell morphology 4/20
HP: 0012143 Abnormal megakaryocyte morphology 1/20
HP: 0012144 Abnormality monocyte morphology 2/20
HP: 0012145 Abnormality of multiple cell lineages in the bone marrow 2/20
HP: 0012181 Entrapment neuropathy 6/20
HP: 0012188 Hyperemesis gravidarum 7/20
HP: 0012199 Cluster headache 2/20
HP: 0012211 Abnormal renal physiology 8/20
HP: 0012228 Tension-type headache 3/20
HP: 0012243 Abnormal reproductive system morphology 5/20
HP: 0012251 ST segment elevation 2/20
HP: 0012310 Abnormal monocyte count 2/20
HP: 0012311 Monocytosis 2/20
HP: 0012324 Myeloid leukemia 2/20
HP: 0012325 Chronic myelomonocytic leukemia 2/20
HP: 0012337 Abnormal homeostasis 4/20
HP: 0012373 Abnormal eye physiology 1/20
HP: 0012379 Abnormal enzyme/coenzyme activity 3/20
HP: 0012433 Abnormal social behavior 1/20
HP: 0012459 Hypnic headache 1/20
HP: 0012514 Lower limb pain 3/20
HP: 0012531 Pain 2/20
HP: 0012591 Abnormal urinary electrolyte concentration 2/20
HP: 0012599 Abnormal urine phosphate concentration 3/20
HP: 0012640 Abnormality of intracranial pressure 1/20
HP: 0012641 Decreased intracranial pressure 2/20
HP: 0012700 Abnormal large intestine physiology 2/20
HP: 0012735 Cough 2/20
HP: 0012764 Orthopnea 1/20
HP: 0012795 Abnormality of the optic disc 2/20
HP: 0012888 Abnormality of the uterine cervix 1/20
HP: 0020047 Abnormal myeloid cell morphology 4/20
HP: 0025033 Abnormality of digestive system morphology 1/20
HP: 0025059 Splenic abscess 3/20
HP: 0025061 Unifocal splenic abscess 2/20
HP: 0025112 Sound sensitivity 2/20
HP: 0025116 Fetal distress 1/20
HP: 0025143 Chills 3/20
HP: 0025144 Shivering 1/20
HP: 0025145 Rigors 1/20
HP: 0025270 Abnormality of esophagus physiology 1/20
HP: 0025289 Cervical lymphadenopathy 4/20
HP: 0025328 Antepartum hemorrhage 2/20
HP: 0025337 Red eye 2/20
HP: 0025423 Abnormal larynx morphology 1/20
HP: 0025439 Pharyngitis 1/20
HP: 0025487 Abnormality of bladder morphology 1/20
HP: 0025496 Abnormal coronary artery physiology 1/20
HP: 0025497 Coronary artery spasm 1/20
HP: 0025502 Overweight 2/20
HP: 0025643 Tarlov cyst 2/20
HP: 0030151 Cholangitis 2/20
HP: 0030160 Cervicitis 1/20
HP: 0030213 Emotional blunting 2/20
HP: 0030214 Hypersexuality 1/20
HP: 0030319 Weakness of facial musculature 1/20
HP: 0030363 Primary Caesarian section 2/20
HP: 0030448 Soft tissue sarcoma 4/20
HP: 0030791 Abnormal jaw morphology 3/20
HP: 0030831 Rhonchi 2/20
HP: 0030863 Nasal flaring 1/20
HP: 0030907 Thunderclap headache 1/20
HP: 0030917 Low APGAR score 2/20
HP: 0030918 Low 1-minute APGAR score 3/20
HP: 0030972 Abnormal systemic blood pressure 7/20
HP: 0030987 Suppurative cholangitis 2/20
HP: 0031058 Impairment of activities of daily living 1/20
HP: 0031064 Impaired continence 1/20
HP: 0031105 Abnormal uterus morphology 3/20
HP: 0031246 Nonproductive cough 2/20
HP: 0031352 Chest tightness 1/20
HP: 0031468 Separation insecurity 1/20
HP: 0031500 Abdominal mass 2/20
HP: 0031607 Pelvic organ prolapse 1/20
HP: 0031816 Abnormal oral morphology 1/20
HP: 0031879 Abnormal eyelid physiology 1/20
HP: 0031880 Eyelid laxity 1/20
HP: 0031943 Akathisia 3/20
HP: 0031944 Pleural thickening 1/20
HP: 0032000 Pleural rub 1/20
HP: 0032040 Abnormal ocular adnexa physiology 1/20
HP: 0032060 Epithelioid hemangioma 3/20
HP: 0032148 Episodic pain 3/20
HP: 0032149 Breakthrough pain 3/20
HP: 0032180 Abnormal circulating metabolite concentration 8/20
HP: 0032220 Interface hepatitis 1/20
HP: 0032245 Abnormal metabolism 3/20
HP: 0032251 Abnormal immune system morphology 1/20
HP: 0032260 Opportunistic bacterial infection 1/20
HP: 0032263 Increased blood pressure 7/20
HP: 0040141 Tardive dyskinesia 2/20
HP: 0040187 Neonatal sepsis 1/20
HP: 0040195 Decreased head circumference 1/20
HP: 0100006 Neoplasm of the central nervous system 1/20
HP: 0100021 Cerebral palsy 1/20
HP: 0100037 Abnormality of the scalp hair 1/20
HP: 0100242 Sarcoma 4/20
HP: 0100543 Cognitive impairment 2/20
HP: 0100580 Barrett esophagus 1/20
HP: 0100607 Dysmenorrhea 1/20
HP: 0100659 Abnormality of the cerebral vasculature 4/20
HP: 0100721 Mediastinal lymphadenopathy 1/20
HP: 0100742 Vascular neoplasm 2/20
HP: 0100753 Schizophrenia 2/20
HP: 0100763 Abnormality of the lymphatic system 2/20
HP: 0100765 Abnormality of the tonsils 1/20
HP: 0100767 Abnormality of the placenta 2/20
HP: 0100776 Recurrent pharyngitis 2/20
HP: 0100872 Abnormality of the plantar skin of foot 3/20
HP: 0200013 Neoplasm of fatty tissue 1/20
HP: 0200123 Chronic hepatitis 1/20
HP: 0410019 Epigastric pain 1/20
HP: 0410134 Physical urticaria 1/20
HP: 0500049 Retinopathy of prematurity 2/20