Phenotypic abnormality


Normal Case/Contol

GWAS of 0000118

Sibling Case/Control

No sibling GWAS available 0000118


Case Control
366787 93407

Phenotype Definition

A phenotypic abnormality. [HPO:probinson]

Phenotype Comment

This is the root of the phenotypic abnormality subontology of the HPO.

Top SNP Information

Associated Diseases

ID Name Top Correlation
ICD: A048 Other specified bacterial intestinal infections 3/20
ICD: A09 Diarrhoea and gastro-enteritis of presumed infectious origin 2/20
ICD: A099 Gastroenteritis and colitis of unspecified origin 2/20
ICD: B169 Acute hepatitis B without delta-agent and without hepatic coma 3/20
ICD: B181 Chronic viral hepatitis B without delta-agent 4/20
ICD: B182 Chronic viral hepatitis C 3/20
ICD: B980 Helicobacter pylori [H.pylori] as the cause of diseases classified to other chapters 3/20
ICD: C155 Lower third of oesophagus 1/20
ICD: C159 Oesophagus, unspecified 3/20
ICD: C349 Bronchus or lung, unspecified 1/20
ICD: C439 Malignant melanoma of skin, unspecified 1/20
ICD: C440 Skin of lip 2/20
ICD: C441 Skin of eyelid, including canthus 4/20
ICD: C442 Skin of ear and external auricular canal 4/20
ICD: C443 Skin of other and unspecified parts of face 4/20
ICD: C444 Skin of scalp and neck 4/20
ICD: C445 Skin of trunk 4/20
ICD: C446 Skin of upper limb, including shoulder 3/20
ICD: C447 Skin of lower limb, including hip 4/20
ICD: C450 Mesothelioma of pleura 1/20
ICD: C502 Upper-inner quadrant of breast 2/20
ICD: C504 Upper-outer quadrant of breast 3/20
ICD: C509 Breast, unspecified 1/20
ICD: C64 Malignant neoplasm of kidney, except renal pelvis 1/20
ICD: C679 Bladder, unspecified 4/20
ICD: C693 Choroid 1/20
ICD: C771 Intrathoracic lymph nodes 2/20
ICD: C772 Intra-abdominal lymph nodes 1/20
ICD: C780 Secondary malignant neoplasm of lung 1/20
ICD: C787 Secondary malignant neoplasm of liver 1/20
ICD: C795 Secondary malignant neoplasm of bone and bone marrow 1/20
ICD: D033 Melanoma in situ of other and unspecified parts of face 2/20
ICD: D043 Skin of other and unspecified parts of face 2/20
ICD: D125 Sigmoid colon 3/20
ICD: D126 Colon, unspecified 2/20
ICD: D128 Rectum 3/20
ICD: D172 Benign lipomatous neoplasm of skin and subcutaneous tissue of limbs 1/20
ICD: D176 Benign lipomatous neoplasm of spermatic cord 2/20
ICD: D179 Benign lipomatous neoplasm, unspecified 1/20
ICD: D220 Melanocytic naevi of lip 1/20
ICD: D221 Melanocytic naevi of eyelid, including canthus 1/20
ICD: D223 Melanocytic naevi of other and unspecified parts of face 4/20
ICD: D224 Melanocytic naevi of scalp and neck 2/20
ICD: D225 Melanocytic naevi of trunk 3/20
ICD: D227 Melanocytic naevi of lower limb, including hip 1/20
ICD: D231 Skin of eyelid, including canthus 2/20
ICD: D233 Skin of other and unspecified parts of face 1/20
ICD: D24 Benign neoplasm of breast 2/20
ICD: D250 Submucous leiomyoma of uterus 2/20
ICD: D251 Intramural leiomyoma of uterus 1/20
ICD: D252 Subserosal leiomyoma of uterus 1/20
ICD: D259 Leiomyoma of uterus, unspecified 2/20
ICD: D352 Pituitary gland 1/20
ICD: D508 Other iron deficiency anaemias 1/20
ICD: D509 Iron deficiency anaemia, unspecified 1/20
ICD: D563 Thalassaemia trait 3/20
ICD: D571 Sickle-cell anaemia without crisis 1/20
ICD: D573 Sickle-cell trait 1/20
ICD: D649 Anaemia, unspecified 2/20
ICD: D860 Sarcoidosis of lung 1/20
ICD: D868 Sarcoidosis of other and combined sites 1/20
ICD: D869 Sarcoidosis, unspecified 2/20
ICD: E041 Non-toxic single thyroid nodule 1/20
ICD: E112 With renal complications 1/20
ICD: E113 With ophthalmic complications 2/20
ICD: E114 With neurological complications 1/20
ICD: E119 Without complications 3/20
ICD: E143 With ophthalmic complications 1/20
ICD: E149 Without complications 3/20
ICD: E559 Vitamin D deficiency, unspecified 2/20
ICD: E739 Lactose intolerance, unspecified 1/20
ICD: E780 Pure hypercholesterolaemia 1/20
ICD: E872 Acidosis 1/20
ICD: F059 Delirium, unspecified 1/20
ICD: F10 Mental and behavioural disorders due to use of alcohol 6/20
ICD: F100 Acute intoxication 2/20
ICD: F101 Harmful use 5/20
ICD: F102 Dependence syndrome 1/20
ICD: F103 Withdrawal state 1/20
ICD: F121 Harmful use 1/20
ICD: F200 Paranoid schizophrenia 1/20
ICD: F23 Acute and transient psychotic disorders 1/20
ICD: F29 Unspecified nonorganic psychosis 2/20
ICD: F32 Depressive episode 5/20
ICD: F419 Anxiety disorder, unspecified 3/20
ICD: G20 Parkinson's disease 2/20
ICD: G40 Epilepsy 3/20
ICD: G442 Tension-type headache 1/20
ICD: G459 Transient cerebral ischaemic attack, unspecified 2/20
ICD: H023 Blepharochalasis 1/20
ICD: H048 Other disorders of lachrymal system 1/20
ICD: H110 Pterygium 2/20
ICD: H251 Senile nuclear cataract 1/20
ICD: H268 Other specified cataract 3/20
ICD: H269 Cataract, unspecified 2/20
ICD: H330 Retinal detachment with retinal break 1/20
ICD: H332 Serous retinal detachment 1/20
ICD: H334 Traction detachment of retina 1/20
ICD: H360 Diabetic retinopathy 1/20
ICD: H400 Glaucoma suspect 2/20
ICD: H401 Primary open-angle glaucoma 1/20
ICD: H405 Glaucoma secondary to other eye disorders 1/20
ICD: H530 Amblyopia ex anopsia 2/20
ICD: H538 Other visual disturbances 2/20
ICD: H919 Hearing loss, unspecified 2/20
ICD: I120 Hypertensive renal disease with renal failure 1/20
ICD: I200 Unstable angina 1/20
ICD: I209 Angina pectoris, unspecified 1/20
ICD: I211 Acute transmural myocardial infarction of inferior wall 2/20
ICD: I319 Disease of pericardium, unspecified 2/20
ICD: I340 Mitral (valve) insufficiency 1/20
ICD: I350 Aortic (valve) stenosis 3/20
ICD: I447 Left bundle-branch block, unspecified 3/20
ICD: I471 Supraventricular tachycardia 2/20
ICD: I48 Atrial fibrillation and flutter 3/20
ICD: I518 Other ill-defined heart diseases 2/20
ICD: I639 Cerebral infarction, unspecified 1/20
ICD: I652 Occlusion and stenosis of carotid artery 1/20
ICD: I702 Atherosclerosis of arteries of the extremities 1/20
ICD: I714 Abdominal aortic aneurysm, without mention of rupture 3/20
ICD: I771 Stricture of artery 3/20
ICD: I839 Varicose veins of lower extremities without ulcer or inflammation 3/20
ICD: I848 Unspecified haemorrhoids with other complications 2/20
ICD: I959 Hypotension, unspecified 1/20
ICD: J181 Lobar pneumonia, unspecified 3/20
ICD: J189 Pneumonia, unspecified 2/20
ICD: J22 Unspecified acute lower respiratory infection 1/20
ICD: J301 Allergic rhinitis due to pollen 2/20
ICD: J304 Allergic rhinitis, unspecified 1/20
ICD: J310 Chronic rhinitis 1/20
ICD: J330 Polyp of nasal cavity 1/20
ICD: J342 Deviated nasal septum 2/20
ICD: J350 Chronic tonsillitis 1/20
ICD: J351 Hypertrophy of tonsils 1/20
ICD: J439 Emphysema, unspecified 1/20
ICD: J440 Chronic obstructive pulmonary disease with acute lower respiratory infection 3/20
ICD: J441 Chronic obstructive pulmonary disease with acute exacerbation, unspecified 1/20
ICD: J448 Other specified chronic obstructive pulmonary disease 1/20
ICD: J449 Chronic obstructive pulmonary disease, unspecified 3/20
ICD: J61 Pneumoconiosis due to asbestos and other mineral fibres 1/20
ICD: J920 Pleural plaque with presence of asbestos 1/20
ICD: J929 Pleural plaque without asbestos 1/20
ICD: J981 Pulmonary collapse 1/20
ICD: K029 Dental caries, unspecified 1/20
ICD: K053 Chronic periodontitis 2/20
ICD: K20 Oesophagitis 3/20
ICD: K21 Gastro-oesophageal reflux disease 4/20
ICD: K210 Gastro-oesophageal reflux disease with oesophagitis 2/20
ICD: K221 Ulcer of oesophagus 3/20
ICD: K227 Barrett's oesophagus 3/20
ICD: K29 Gastritis and duodenitis 1/20
ICD: K295 Chronic gastritis, unspecified 1/20
ICD: K297 Gastritis, unspecified 2/20
ICD: K30 Dyspepsia 3/20
ICD: K317 Polyp of stomach and duodenum 2/20
ICD: K409 Unilateral or unspecified inguinal hernia, without obstruction or gangrene 3/20
ICD: K439 Ventral hernia without obstruction or gangrene 1/20
ICD: K449 Diaphragmatic hernia without obstruction or gangrene 4/20
ICD: K529 Non-infective gastro-enteritis and colitis, unspecified 2/20
ICD: K573 Diverticular disease of large intestine without perforation or abscess 4/20
ICD: K579 Diverticular disease of intestine, part unspecified, without perforation or abscess 5/20
ICD: K589 Irritable bowel syndrome without diarrhoea 2/20
ICD: K602 Anal fissure, unspecified 1/20
ICD: K603 Anal fistula 1/20
ICD: K621 Rectal polyp 3/20
ICD: K625 Haemorrhage of anus and rectum 1/20
ICD: K635 Polyp of colon 3/20
ICD: K649 Haemorrhoids, unspecified 1/20
ICD: K709 Alcoholic liver disease, unspecified 1/20
ICD: K801 Calculus of gallbladder with other cholecystitis 3/20
ICD: K802 Calculus of gallbladder without cholecystitis 2/20
ICD: K805 Calculus of bile duct without cholangitis or cholecystitis 1/20
ICD: K921 Melaena 1/20
ICD: K922 Gastro-intestinal haemorrhage, unspecified 1/20
ICD: L022 Cutaneous abscess, furuncle and carbuncle of trunk 1/20
ICD: L024 Cutaneous abscess, furuncle and carbuncle of limb 1/20
ICD: L031 Cellulitis of other parts of limb 5/20
ICD: L570 Actinic keratosis 4/20
ICD: L720 Epidermal cyst 1/20
ICD: L814 Other melanin hyperpigmentation 1/20
ICD: L82 Seborrhoeic keratosis 3/20
ICD: L858 Other specified epidermal thickening 2/20
ICD: L900 Lichen sclerosus et atrophicus 1/20
ICD: L905 Scar conditions and fibrosis of skin 1/20
ICD: L989 Disorder of skin and subcutaneous tissue, unspecified 4/20
ICD: M159 Polyarthrosis, unspecified 7/20
ICD: M160 Primary coxarthrosis, bilateral 1/20
ICD: M161 Other primary coxarthrosis 3/20
ICD: M169 Coxarthrosis, unspecified 3/20
ICD: M189 Arthrosis of first carpometacarpal joint, unspecified 2/20
ICD: M199 Arthrosis, unspecified 5/20
ICD: M1994 Arthrosis, unspecified (Hand) 3/20
ICD: M1997 Arthrosis, unspecified (Ankle and foot) 3/20
ICD: M202 Hallux rigidus 3/20
ICD: M204 Other hammer toe(s) (acquired) 3/20
ICD: M205 Other deformities of toe(s) (acquired) 2/20
ICD: M257 Osteophyte 2/20
ICD: M329 Systemic lupus erythematosus, unspecified 1/20
ICD: M478 Other spondylosis 3/20
ICD: M542 Cervicalgia 1/20
ICD: M545 Low back pain 1/20
ICD: M720 Palmar fascial fibromatosis [Dupuytren] 1/20
ICD: M758 Other shoulder lesions 1/20
ICD: M796 Pain in limb 1/20
ICD: M8090 Unspecified osteoporosis with pathological fracture (Multiple sites) 1/20
ICD: M8098 Unspecified osteoporosis with pathological fracture (Other) 1/20
ICD: M819 Osteoporosis, unspecified 3/20
ICD: M841 Nonunion of fracture [pseudarthrosis] 2/20
ICD: M858 Other specified disorders of bone density and structure 1/20
ICD: N083 Glomerular disorders in diabetes mellitus 1/20
ICD: N12 Tubulo-interstitial nephritis, not specified as acute or chronic 2/20
ICD: N180 End-stage renal disease 1/20
ICD: N185 Chronic kidney disease, stage 5 3/20
ICD: N189 Chronic renal failure, unspecified 1/20
ICD: N323 Diverticulum of bladder 1/20
ICD: N390 Urinary tract infection, site not specified 1/20
ICD: N393 Stress incontinence 3/20
ICD: N701 Chronic salpingitis and oophoritis 2/20
ICD: N736 Female pelvic peritoneal adhesions 2/20
ICD: N739 Female pelvic inflammatory disease, unspecified 1/20
ICD: N802 Endometriosis of Fallopian tube 1/20
ICD: N809 Endometriosis, unspecified 1/20
ICD: N811 Cystocele 4/20
ICD: N812 Incomplete uterovaginal prolapse 2/20
ICD: N815 Vaginal enterocele 2/20
ICD: N816 Rectocele 3/20
ICD: N832 Other and unspecified ovarian cysts 2/20
ICD: N850 Endometrial glandular hyperplasia 1/20
ICD: N870 Mild cervical dysplasia 1/20
ICD: N871 Moderate cervical dysplasia 2/20
ICD: N920 Excessive and frequent menstruation with regular cycle 2/20
ICD: N939 Abnormal uterine and vaginal bleeding, unspecified 2/20
ICD: N946 Dysmenorrhoea, unspecified 2/20
ICD: N971 Female infertility of tubal origin 1/20
ICD: N979 Female infertility, unspecified 3/20
ICD: O021 Missed abortion 4/20
ICD: O034 Incomplete, without complication 3/20
ICD: O039 Complete or unspecified, without complication 3/20
ICD: O049 Complete or unspecified, without complication 3/20
ICD: O16 Unspecified maternal hypertension 1/20
ICD: O209 Haemorrhage in early pregnancy, unspecified 1/20
ICD: O210 Mild hyperemesis gravidarum 1/20
ICD: O244 Diabetes mellitus arising in pregnancy 2/20
ICD: O268 Other specified pregnancy-related conditions 3/20
ICD: O269 Pregnancy-related condition, unspecified 1/20
ICD: O341 Maternal care for tumour of corpus uteri 2/20
ICD: O365 Maternal care for poor foetal growth 1/20
ICD: O420 Premature rupture of membranes, onset of labour within 24 hours 3/20
ICD: O421 Premature rupture of membranes, onset of labour after 24 hours 1/20
ICD: O429 Premature rupture of membranes, unspecified 1/20
ICD: O469 Antepartum haemorrhage, unspecified 1/20
ICD: O479 False labour, unspecified 3/20
ICD: O60 Preterm delivery 3/20
ICD: O630 Prolonged first stage (of labour) 1/20
ICD: O680 Labour and delivery complicated by foetal heart rate anomaly 3/20
ICD: O681 Labour and delivery complicated by meconium in amniotic fluid 2/20
ICD: O689 Labour and delivery complicated by foetal stress, unspecified 2/20
ICD: O700 First degree perineal laceration during delivery 3/20
ICD: O701 Second degree perineal laceration during delivery 2/20
ICD: O720 Third-stage haemorrhage 1/20
ICD: O721 Other immediate postpartum haemorrhage 3/20
ICD: O722 Delayed and secondary postpartum haemorrhage 1/20
ICD: O800 Spontaneous vertex delivery 2/20
ICD: O809 Single spontaneous delivery, unspecified 2/20
ICD: O821 Delivery by emergency Caesarean section 2/20
ICD: O990 Anaemia complicating pregnancy, childbirth and the puerperium 3/20
ICD: O998 Other specified diseases and conditions complicating pregnancy, childbirth and the puerperium 2/20
ICD: R001 Bradycardia, unspecified 2/20
ICD: R040 Epistaxis 1/20
ICD: R060 Dyspnoea 1/20
ICD: R065 Mouth breathing 1/20
ICD: R072 Precordial pain 1/20
ICD: R073 Other chest pain 1/20
ICD: R074 Chest pain, unspecified 1/20
ICD: R101 Pain localised to upper abdomen 1/20
ICD: R102 Pelvic and perineal pain 1/20
ICD: R104 Other and unspecified abdominal pain 3/20
ICD: R11 Nausea and vomiting 1/20
ICD: R194 Change in bowel habit 2/20
ICD: R268 Other and unspecified abnormalities of gait and mobility 1/20
ICD: R296 Tendency to fall, not elsewhere classified 2/20
ICD: R300 Dysuria 1/20
ICD: R33 Retention of urine 4/20
ICD: R398 Other and unspecified symptoms and signs involving the urinary system 1/20
ICD: R509 Fever, unspecified 1/20
ICD: R51 Headache 2/20
ICD: R55 Syncope and collapse 2/20
ICD: R568 Other and unspecified convulsions 1/20
ICD: R739 Hyperglycaemia, unspecified 1/20
ICD: R798 Other specified abnormal findings of blood chemistry 1/20
ICD: R943 Abnormal results of cardiovascular function studies 1/20
ICD: T432 Other and unspecified antidepressants 1/20
ICD: T781 Other adverse food reactions, not elsewhere classified 1/20
ICD: T828 Other complications of cardiac and vascular prosthetic devices, implants and grafts 1/20
ICD: W199 Unspecified place 3/20
ICD: Y433 Other antineoplastic drugs 1/20
ICD: Y836 Removal of other organ (partial) (total) 1/20
ICD: Y838 Other surgical procedures 2/20