Attention Deficit and Disruptive Behavior Disorders
Attention Deficit Disorder with Hyperactivity
F8 protein, human [Supplementary Concept]
fibrin fragment D [Supplementary Concept]
monocyte chemoattractant protein 1 (66-77) [Supplementary Concept]
Receptors, Tumor Necrosis Factor, Type II
Accelerated cognitive decline after conversion of MCI to Alzheimer's disease
Accelerometer-based physical activity measurement (average acceleration)
Acute graft versus host disease in bone marrow transplantation (recipient effect)
Acute lymphoblastic leukemia (B-cell precursor)
Acute lymphoblastic leukemia in childhood (B cell precursor)
Acute urticaria and angioedema (non-steroidal anti-inflammatory drug-induced)
Adverse response to chemotherapy in breast cancer (alopecia) (anti-microtubule)
Adverse response to chemotherapy in breast cancer (alopecia) (FDC/DC)
Adverse response to chemotherapy in breast cancer (alopecia) (paclitaxel)
Adverse response to chemotherapy (neutropenia/leucopenia) (all anthracycline-based drugs)
Adverse response to chemotherapy (neutropenia/leucopenia) (all antimetabolite drugs)
Adverse response to chemotherapy (neutropenia/leucopenia) (all antimicrotubule drugs)
Adverse response to chemotherapy (neutropenia/leucopenia) (all platinum-based drugs)
Adverse response to chemotherapy (neutropenia/leucopenia) (all topoisomerase inhibitors)
Adverse response to chemotherapy (neutropenia/leucopenia) (carboplatin)
Adverse response to chemotherapy (neutropenia/leucopenia) (cisplatin)
Adverse response to chemotherapy (neutropenia/leucopenia) (docetaxel)
Adverse response to chemotherapy (neutropenia/leucopenia) (epirubicin)
Adverse response to chemotherapy (neutropenia/leucopenia) (gemcitabine)
Adverse response to chemotherapy (neutropenia/leucopenia) (paclitaxel)
Adverse response to chemotherapy (neutropenia/leucopenia) (paclitaxel + carboplatin)
Adverse response to lamotrigine and phenytoin
Age at smoking initiation in chronic obstructive pulmonary disease
Age-related macular degeneration (choroidal neovascularisation)
Age-related macular degeneration (extreme sampling)
Age-related macular degeneration (geographic atrophy)
Aggressiveness in attention deficit hyperactivity disorder
Airway responsiveness in chronic obstructive pulmonary disease
Alcohol consumption (drinkers vs non-drinkers)
Alcohol use disorder (consumption score)
Alcohol use disorder (dependence and problematic use scores)
Allergic disease (asthma, hay fever or eczema)
ALT levels after remission induction therapy in actute lymphoblastic leukemia (ALL)
Alzheimer's disease (APOE e4 interaction)
Alzheimer's disease in APOE e4- carriers
Alzheimer's disease in APOE e4+ carriers
Amyotrophic lateral sclerosis (age of onset)
Amyotrophic lateral sclerosis (C9orf72 mutation interaction)
Amyotrophic lateral sclerosis in C9orf72 mutation negative individuals
Amyotrophic lateral sclerosis in C9orf72 mutation positive individuals
antipsychotic drug dosage in schizophrenia or schizoaffective disorder
Asparaginase hypersensitivity in acute lymphoblastic leukemia
Asparaginase-induced acute pancreatitis in acute lymphoblastic leukemia (onset time)
Asthma exacerbations in inhaled corticosteroid treatment
Attention deficit hyperactivity disorder and conduct disorder
Attention deficit hyperactivity disorder or cannabis use
Attention deficit hyperactivity disorder symptom score
Attention function in attention deficit hyperactive disorder
Autism spectrum disorder, ADHD, bipolar disorder, MDD, and schizophrenia (combined)
Autism spectrum disorder or schizophrenia
Autoimmune thyroid diseases (Graves disease or Hashimoto's thyroiditis)
Barrett's esophagus  or Esophageal adenocarcinoma
Barrett's esophagus x pack-years of smoking exposure interaction
B-cell malignancies (CLL, Hodgkin lymphoma or multiple myeloma) (pleiotropy)
Binge eating behaviour and bipolar disorder
Bipolar disorder (age of onset <21) or attention deficit hyperactivity disorder
Bipolar disorder (body mass index interaction)
Bipolar disorder (inflammation and infection response interaction)
Bipolar disorder lithium response (categorical) or schizophrenia
Bipolar disorder lithium response (continuous) or schizophrenia
Bipolar disorder or attention deficit hyperactivity disorder
Bipolar disorder or major depressive disorder
Bipolar disorder with mood-incongruent psychosis
Blood pressure measurement (high sodium and potassium intervention)
Blood pressure measurement (high sodium intervention)
Blood pressure measurement (low sodium intervention)
Blood pressure traits (multi-trait analysis)
Body mass index (alcohol intake interaction)
Body mass index and waist-hip ratio (pleiotropy)
Body mass index (change over time) in chronic obstructive pulmonary disease
Body mass index (change over time) in lung cancer or chronic obstructive pulmonary disease
Body mass index in physically active individuals
Body mass index in physically inactive individuals
Body mass index (joint analysis main effects and physical activity interaction)
Body mass index (joint analysis main effects and smoking interaction)
Body mass index (recreational physical activity interaction)
Body mass index  (smoking years interaction)
Body mass index x sex x age interaction (4df test)
Bone mineral density (femoral neck) in inflammatory bowel disease
Bone mineral density (paediatric, lower limb)
Bone mineral density (paediatric, skull)
Bone mineral density (paediatric, total body less head)
Bone mineral density (paediatric, upper limb)
Bone mineral density (spine) and age at menarche
Bone mineral density (Ward's triangle area)
Bone ultrasound measurement (broadband ultrasound attenuation)
Bone ultrasound measurement (velocity of sound)
Bortezomib-induced peripheral neuropathy in multiple myeloma
Brain imaging in schizophrenia (dorsolateral prefrontal cortex interaction)
Branched-chain amino acid levels (Isoleucine)
Breast Cancer in BRCA1 mutation carriers
Breast milk fatty acid composition (infant genotype effect)
Breast milk fatty acid composition (maternal genotype effect)
Bronchopulmonary dysplasia in preterm infants
Caffeine metabolism (plasma 1,7-dimethylxanthine (paraxanthine) level)
Caffeine metabolism (plasma 3,7-dimethylxanthine (theobromine) level)
Caffeine metabolism (plasma caffeine) level)
Caffeine metabolism (plasma paraxanthine caffeine ratio)
Carboplatin disposition in epthelial ovarian cancer
Cardiovascular risk factors (age interaction)
Carotid atherosclerosis in HIV infection
Carotid plaque burden (smoking interaction)
Cerebral amyloid deposition in APOEe4 non-carriers (PET imaging)
Cerebral amyloid deposition (PET imaging)
Cerebral amyloid deposition positivity (PET imaging)
Cerebrospinal AB1-42 levels in Alzheimer's disease dementia
Cerebrospinal AB1-42 levels in mild cognitive impairment
Cerebrospinal AB1-42 levels in normal cognition
Cerebrospinal fluid beta-site APP cleaving enzyme levels
Cerebrospinal fluid levels of Alzheimer's disease-related proteins
Cerebrospinal fluid p-tau levels in Alzheimer's disease dementia
Cerebrospinal fluid p-tau levels in mild cognitive impairment
Cerebrospinal fluid p-tau levels in normal cognition
Cerebrospinal fluid t-tau levels in Alzheimer's disease dementia
Cerebrospinal fluid t-tau levels in mild cognitive impairment
Cerebrospinal fluid t-tau levels in normal cognition
Change in glucose in response to thiazide diuretic treatment in hypertension
Change in LVEF in response to paclitaxel and trastuzumab in HER2+ breast cancer
Childhood and early adolescence aggressive behavior
Cholangiocarcinoma in primary sclerosing cholangitis
Cholangiocarcinoma in primary sclerosing cholangitis (time to event)
Cholesterol efflux capacity (ABCA-1 dependent assay)
Cholesterol efflux capacity (cAMP stimulated assay)
Chronic bronchitis and chronic obstructive pulmonary disease
Chronic obstructive pulmonary disease (moderate to severe)
Chronic obstructive pulmonary disease-related biomarkers
Chronic obstructive pulmonary disease (severe)
Chronic periodontitis (mean interproximal clinical attachment level)
Circulating fibroblast growth factor 23 levels
circulating leptin levels adjusted for BMI
Cleft lip with or without cleft palate (maternal periconceptional vitamin use interaction)
Clozapine-induced agranulocytosis/granulocytopenia in treatment-resistant schizophrenia
Cognitive decline rate in late mild cognitive impairment
Cold medicine-related SJS/TEN with severe ocular complications
Colorectal cancer (calcium intake interaction)
Common carotid intima-media thickness in HIV infection
Common carotid intima-media thickness in HIV negative individuals
Conduct disorder (maternal expressed emotions interaction)
Congenital heart disease (inherited effect)
Congenital heart disease (maternal effect)
Conotruncal heart defects (inherited effects)
Conotruncal heart defects (maternal effects)
Coronary artery aneurysm in Kawasaki disease
Coronary artery calcified atherosclerotic plaque (130 HU threshold) in type 2 diabetes
Coronary artery calcified atherosclerotic plaque (90 or 130 HU threshold) in type 2 diabetes
Coronary artery calcified atherosclerotic plaque score in type 2 diabetes
Coronary artery disease in type 1 diabetes
Coronary artery disease (myocardial infarction, PTCA, CABG, angina or CIHD)
Coronary artery disease or ischemic stroke
Coronary artery disease or large artery stroke
Coronary atherosclerosis (increased number of diseased vessels) (traffic exposure interaction)
Coronary heart disease (SNP X SNP interaction)
Corrected insulin response adjusted for insulin sensitivity index
Cough in response to angiotensin-converting enzyme inhibitor drugs
C-reactive protein levels or HDL-cholesterol levels (pleiotropy)
C-reactive protein levels or LDL-cholesterol levels (pleiotropy)
C-reactive protein levels or total cholesterol levels (pleiotropy)
C-reactive protein levels or triglyceride levels (pleiotropy)
C-reactive protein (red blood cell fatty acid level interaction)
CSF tryptophan concentration in tuberculous meningitis
Current cigarettes per day in chronic obstructive pulmonary disease
Decline in glucose metabolism in posterior cingulate cortex
Deep ovarian and/or rectovaginal disease with dense adhesions
Delta-5 desaturase activity response to n3-polyunsaturated fat supplement
Dementia and core Alzheimer's disease neuropathologic changes
Depressive and manic episodes in bipolar disorder
Depressive symptoms (SSRI exposure interaction)
Diabetes in response to antihypertensive drug treatment (treatment strategy interaction)
Diastolic blood pressure (cigarette smoking interaction)
Diastolic blood pressure night-to-day ratio in hypertension
Diastolic blood pressure response to hydrochlorothiazide in hypertension
Diastolic blood pressure x alcohol consumption interaction (2df test)
Diastolic blood pressure x alcohol consumption (light vs heavy) interaction (2df test)
Diastolic blood pressure x smoking status (current vs non-current) interaction (1df test)
Diastolic blood pressure x smoking status (current vs non-current) interaction (2df test)
Diastolic blood pressure x smoking status (ever vs never) interaction (1df test)
Diastolic blood pressure x smoking status (ever vs never) interaction (2df test)
Diffusing capacity of the lung for carbon monoxide traits
Discordance in emotional problems in monozygotic twins
Disease progression in age-related macular degeneration
Disease progression to choroidal neovascularization form in age-related macular degeneration
Disrupted circadian rhythm (low relative amplitude of rest-activity cycles)
Docetaxel-induced peripheral neuropathy in metastatic castrate-resistant prostate cancer
Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN)
Eating disorders (purging via substances)
Economic and political preferences (time)
Educational attainment (years of education)
Elevated serum carcinoembryonic antigen levels
Epilepsy and lamotrigine-induced maculopapular eruptions
Epstein-Barr virus copy number in lymphoblastoid cell lines
Epstein-Barr virus immune response (EBNA-1)
Erectile dysfunction and prostate cancer treatment
Erosive tooth wear (severe vs none or mild)
Erosive tooth wear (severe vs non-severe)
Erythema nodosum in inflammatory bowel disease
Erythrocyte cadmium concentration in never smokers
Esophageal adenocarcinoma x gastroesophageal reflux disease interaction
Estrone/androstenedione ratio in resected early stage-receptor positive breast cancer
Event free survival in diffuse large B-cell lymphoma treated with immunochemotherapy
Exhaled carbon monoxide levels in smokers with chronic obstructive pulmonary disease
Exploratory eye movement dysfunction in schizophrenia (cognitive search score)
Exploratory eye movement dysfunction in schizophrenia (responsive search score)
facial morphology traits (multivariate analysis)
Fasting insulin (dietary factor interaction)
Forced expiratory volume in 1 second (occupational environmental exposures interaction)
Formal thought disorder in schizophrenia
Fractional excretion of metabolites in chronic kidney disease
Fractional exhaled nitric oxide (childhood)
Frontotemporal dementia with GRN mutation
Frontotemporal dementia with GRN mutation (age at onset)
Functional impairment in major depressive disorder, bipolar disorder and schizophrenia
Gestational age at birth (maternal effect)
GIP levels in response to oral glucose tolerance test (120 minutes)
Glomerular filtration rate change in heart transplantation
Glomerular filtration rate in chronic kidney disease
Glomerular filtration rate in non diabetics (creatinine)
GLP-1 levels in response to oral glucose tolerance test (fasting)
Glucocorticoid-induced osteonecrosis (age 10 years and older)
Granulocyte percentage of myeloid white cells
HDL cholesterol change in response to fenofibrate in statin-treated type 2 diabetes
HDL Cholesterol - Triglycerides (HDLC-TG)
Heart rate increase in response to exercise
Heart rate response to recovery post exercise
Heart rate response to recovery post exercise (10 sec)
Heart rate response to recovery post exercise (20 sec)
Heart rate response to recovery post exercise (30 sec)
Heart rate response to recovery post exercise (40 sec)
Heart rate response to recovery post exercise (50 sec)
Heart rate variability traits (pvRSA/HF)
Hemostatic factors and hematological phenotypes
Hepatitis B surface antigen seroclearance in chronic hepatitis B infection
Hepatocellular carcinoma in hepatitis B infection
High density lipoprotein cholesterol levels
High light scatter reticulocyte percentage of red cells
Hippocampal tail volume (corrected for total hippocampal volume)
Hippocampal volume in Alzheimer's disease dementia
Hippocampal volume in mild cognitive impairment
Homeostasis model assessment of beta-cell function
Homeostasis model assessment of beta-cell function (dietary factor interaction)
Homeostasis model assessment of insulin resistance (dietary factor interaction)
Idiopathic osteonecrosis of the femoral head
IgG bisecting N-acetyl glucosamine phenotypes (multivariate analysis)
IgG digalactosylation phenotypes (multivariate analysis)
IgG disialylation phenotypes (multivariate analysis)
IgG fucosylation phenotypes (multivariate analysis)
IgG galactosylation phenotypes (multivariate analysis)
IgG monogalactosylation phenotypes (multivariate analysis)
IgG N-glycosylation phenotypes (multivariate analysis)
IgG sialylation phenotypes (multivariate analysis)
Immune reponse to smallpox (secreted IFN-alpha)
Immune reponse to smallpox (secreted IL-10)
Immune reponse to smallpox (secreted IL-12p40)
Immune reponse to smallpox (secreted IL-1beta)
Immune reponse to smallpox (secreted IL-2)
Immune reponse to smallpox (secreted TNF-alpha)
Immune response to measles-mumps-rubella vaccine
Immune response to smallpox vaccine (IL-6)
Immunoglobulin light chain (AL) amyloidosis
Immunoglobulin measurement (zinc sulfate turbidity test)
Inflammatory bowel disease (early onset)
Initial pursuit acceleration in psychotic disorders
Interferon alpha levels in systemic lupus erythematosus
Intracranial, abdominal aortic or thoracic aortic aneurysm (pleiotropy)
Iron status biomarkers (ferritin levels)
Iron status biomarkers (total iron binding capacity)
Iron status biomarkers (transferrin levels)
Iron status biomarkers (transferrin saturation)
Ischemic stroke (large artery atherosclerosis)
Itch intensity from mosquito bite adjusted by bite size
JT interval (sulfonylurea treatment interaction)
Juvenile idiopathic arthritis (oligoarticular or rheumatoid factor-negative polyarticular)
Language performance in older adults (adjusted for episodic memory)
Laterality in neovascular age-related macular degeneration
Lateral ventricular volume in normal aging
LDL cholesterol change in response to fenofibrate in statin-treated type 2 diabetes
LDL peak particle diameter (total fat intake interaction)
Left superior temporal gyrus thickness (schizophrenia interaction)
Left ventricular internal dimension in diastole
Left ventricular internal dimension in systole
Left ventricular obstructive tract defect (inherited effect)
Left ventricular obstructive tract defect (maternal effect)
Lifetime average cigarettes per day in chronic obstructive pulmonary disease
Lipid traits (pleiotropy) (HIPO component 1)
Lipoprotein-associated phospholipase A2 activity and mass
Lipoprotein-associated phospholipase A2 activity change in response to statin therapy
Lipoprotein phospholipase A2 activity in cardiovascular disease
Liver enzyme levels (alanine transaminase)
Liver enzyme levels (alkaline phosphatase)
Liver enzyme levels (aspartate transaminase)
Liver enzyme levels (gamma-glutamyl transferase)
Liver fibrosis in pediatric non-alcoholic fatty acid liver disease
Liver transplant-free survival in primary sclerosing cholangitis (time to event)
Lobe attachment (rater-scored or self-reported)
Logical memory (delayed recall) in Alzheimer's disease dementia
Logical memory (delayed recall) in mild cognitive impairment
Logical memory (delayed recall) in normal cognition
Logical memory (immediate recall) in Alzheimer's disease dementia
Logical memory (immediate recall) in mild cognitive impairment
Logical memory (immediate recall) in normal cognition
Longitudinal change in brain amyloid plaque burden
Low density lipoprotein cholesterol levels
Low high density lipoprotein cholesterol levels
Lumbar spine bone mineral density (integral)
Lumbar spine bone mineral density (trabecular)
Lung disease severity in cystic fibrosis
Lupus nephritis in systemic lupus erythematosus
Mean arterial pressure (alcohol consumption interaction)
Mean arterial pressure (long-term average)
Mean arterial pressure x alcohol consumption interaction (2df test)
Mean arterial pressure x alcohol consumption (light vs heavy) interaction (2df test)
Memory dysfunction in frontotemporal lobe dementia
Menstruation quality of life impact (dysmenorrhea)
Metabolite levels (Dihydroxy docosatrienoic acid)
Metabolite levels (HVA-5-HIAA Factor score)
Metabolite levels (small molecules and protein measures)
Methotrexate phramacokinetics (acute lymphoblastic leukemia)
Middle childhood and early adolescence aggressive behavior
middle facial morphology traits (quantitative measurement)
Midgestational circulating levels of PBDEs
Midgestational circulating levels of PBDEs (fetal genetic effect)
Midgestational circulating levels of PCBs
Moderate or severe diarrhoea in darapladib-treated cardiovascular disease (time to event)
Moderate to vigorous physical activity levels
Modified Stumvoll Insulin Sensitivity Index (BMI interaction)
Monoclonal gammopathy of undetermined significance
Monocyte early outgrowth colony forming units
Multiple myeloma and monoclonal gammopathy
Multiple sclerosis and HDL levels (pleiotropy)
Multiple sclerosis and triglyceride levels (pleiotropy)
Multiple system atrophy (pathologically confirmed)
Nasopharyngeal carcinoma (SNP x SNP interaction)
Neonatal cytokine/chemokine levels (fetal genetic effect)
Neuritic plaques or neurofibrillary tangles or cerebral amyloid angiopathy (pleiotropy)
Neuritic plaques or neurofibrillary tangles (pleiotropy)
Neurocognitive impairment in HIV-1 infection (continuous)
Neurocognitive impairment in HIV-1 infection (dichotomous)
Nicotine dependence and major depression (severity of comorbidity)
nicotine metabolite ratio in current smokers
Non-alcoholic fatty liver disease histology (lobular)
Non-alcoholic fatty liver disease histology (other)
Non-response to antidepressants and depression
Non-response to bupropion and depression
Non-response to citalopram or escitalopram and depression
Non-response to selective serotonin reuptake inhibitors and depression
Nonsyndromic cleft lip with cleft palate
Nonsyndromic cleft lip with or without cleft palate
Obesity in adult survivors of childhood cancer exposed to cranial radiation
Obsessive-compulsive disorder or autism spectrum disorder
Obstructive sleep apnea during REM sleep (apnea hypopnea index)
Obstructive sleep apnea trait (apnea hypopnea index)
Obstructive sleep apnea trait (average respiratory event duration)
Oppositional defiant disorder dimensions in attention-deficit hyperactivity disorder
Optic nerve measurement (cup-to-disc ratio)
Ossification of the posterior longitudinal ligament of the spine
Paclitaxel disposition in epithelial ovarian cancer
Parental longevity (both parents in top 10 percent)
Parental longevity (combined parental age at death)
Parental longevity (combined parental attained age, Martingale residuals)
Parental longevity (father's age at death)
Parental longevity (father's attained age)
Parental longevity (mother's attained age)
Parent of origin effect on language impairment (paternal)
Parkinson disease and lewy body pathology
Parkinson's disease (motor and cognition)
Peak cortisol response to low dose short synacthen test in corticosteroid treated asthma
Peanut allergy (maternal genetic effects)
Pediatric non-alcoholic fatty liver disease activity score
Perioperative myocardial infarction in coronary artery bypass surgery
Peripheral arterial disease (traffic-related air pollution interaction)
Physical activity (overall physical activity time)
Plasma amyloid beta peptide concentrations (ABx-40)
Plasma amyloid beta peptide concentrations (ABx-42)
Plasma androstenedione levels in resected early stage-receptor positive breast cancer
Plasma factor VII activating protease levels
Plasma homocysteine levels (post-methionine load test)
Plasma kynurenine levels in major depressive disorder
Plasma omega-3 polyunsaturated fatty acid level (eicosapentaenoic acid)
Plasma omega-3 polyunsaturated fatty acid levels (alphalinolenic acid)
Plasma omega-3 polyunsaturated fatty acid levels (docosapentaenoic acid)
Plasma omega-6 polyunsaturated fatty acid levels (adrenic acid)
Plasma omega-6 polyunsaturated fatty acid levels (arachidonic acid)
Plasma omega-6 polyunsaturated fatty acid levels (dihomo-gamma-linolenic acid)
Plasma omega-6 polyunsaturated fatty acid levels (gamma-linolenic acid)
Plasma omega-6 polyunsaturated fatty acid levels (linoleic acid)
Plasma PCSK9 levels in stable coronary artery disease
Plasminogen activator inhibitor type 1 levels (PAI-1)
Possible neuropathic pain in post total joint replacement surgery for osteoarthritis
Post bronchodilator FEV1/FVC ratio in COPD
Post bronchodilator FEV1/FVC ratio in smoking
Post bronchodilator percent predicted FEV1 in smoking
Posterior cortical atrophy and Alzheimer's disease
Post-traumatic stress disorder (asjusted for relatedness)
Premature menopause in childhood cancer survivors
Primary tooth development (number of teeth)
Primary tooth development (time to first tooth eruption)
PR interval in Tripanosoma cruzi seropositivity
Problematic alcohol use in trauma-exposed individuals
Prostate-specific antigen levels (conditioned on lead SNPs)
Psychosis proneness (hypomanic personality scale)
Psychosis proneness (hypomanic personality scale and revised physical anhedonia scale)
Psychosis proneness (hypomanic personality scale and revised social anhedonia scale)
Pulmonary artery enlargement and chronic obstructive pulmonary disease
Pulse pressure x alcohol consumption interaction (2df test)
Pulse pressure x alcohol consumption (light vs heavy) interaction (2df test)
Pursuit maintenance gain in psychotic disorders
Pyoderma gangrenosum in inflammatory bowel disease
QRS interval (sulfonylurea treatment interaction)
QT interval (ambient particulate matter interaction)
QT interval (sulfonylurea treatment interaction)
Rapid functional decline in sporadic amyotrophic lateral sclerosis
Reading disability or specific language impairment adjusted for IQ (pleiotropy)
Reading disability or specific language impairment (pleiotropy)
Red blood cell density in sickle cell anemia
Regular attendance at a gym or sports club
Regular attendance at a pub or social club
Relative hand skill in reading disability
Remission after SSRI treatment in MDD or neuroticism
Remission after SSRI treatment in MDD or openness
Resistance to Mycobacterium tuberculosis in HIV+ individuals measured by a negative TST (continuous)
Response to alcohol consumption (flushing response)
Response to angiotensin II receptor blocker therapy
Response to angiotensin II receptor blocker therapy (opposite direction w/ diuretic therapy)
Response to antidepressants and depression
Response to antidepressants in depression
Response to antidepressants (symptom improvement)
Response to antidepressants (symptom remission)
Response to anti-depressant treatment in major depressive disorder
Response to antipsychotic therapy (extrapyramidal side effects)
Response to antipsychotic treatment in schizophrenia
Response to antipsychotic treatment in schizophrenia (reasoning)
Response to antipsychotic treatment in schizophrenia (working memory)
Response to anti-retroviral therapy (ddI/d4T) in HIV-1 (Grade 1 peripheral neuropathy)
Response to anti-retroviral therapy (ddI/d4T) in HIV-1 (Grade 2 peripheral neuropathy)
Response to anti-retroviral therapy (ddI/d4T) in HIV-1 (Grade 3 peripheral neuropathy)
Response to anti-TNF therapy in rheumatoid arthritis
Response to bronchodilator in chronic obstructive pulmonary disease (change in FEV1)
Response to chemotherapy in breast cancer hypertensive cases (cumulative dose) (bevacizumab)
Response to citalopram or escitalopram and depression
Response to citalopram or escitalopram in depression
Response to cognitive-behavioural therapy in anxiety disorder
Response to cyclophosphamide in systemic lupus erythematosus with lupus nephritis
Response to cytadine analogues (cytosine arabinoside)
Response to cytidine analogues (gemcitabine)
Response to exercise (triglyceride level interaction)
Response to fenofibrate (adiponectin levels)
Response to fenofibrate (HDL cholesterol levels)
Response to fenofibrate (LDL cholesterol levels)
Response to fenofibrate (total cholesterol levels)
Response to fenofibrate (triglyceride levels)
Response to haloperidol in schizophrenia
Response to iloperidone treatment (QT prolongation)
Response to inhaled corticosteroid treatment in asthma (change in FEV1)
Response to lithium treatment in bipolar disorder
Response to methotrexate in juvenile idiopathic arthritis
Response to methylphenidate treatment in ADHD (blood pressure)
Response to n-3 LC-PUFA supplementation (change in triglyceride levels)
Response to perphenazine in schizophrenia
Response to platinum-based chemotherapy (carboplatin)
Response to platinum-based chemotherapy (cisplatin)
Response to platinum-based chemotherapy in non-small-cell lung cancer
Response to platinum-based neoadjuvant chemotherapy in cervical cancer
Response to radiotherapy in cancer (late toxicity)
Response to selective serotonin reuptake inhibitors and depression
Response to selective serotonin reuptake inhibitors in depression
Response to serotonin reuptake inhibitors in major depressive disorder
Response to serotonin reuptake inhibitors in MDD (plasma drug and metabolite levels)
Response to simvastatin treatment (PCSK9 protein level change)
Response to statins (LDL cholesterol change)
Response to taxane treatment (docetaxel)
Response to taxane treatment (placlitaxel)
Response to TNF-alpha inhibitors in rheumatoid arthritis
Response to TNF inhibitor in rheumatoid arthritis (change in swollen 28-joint count)
Response to TNF inhibitor in rheumatoid arthritis (change in tender 28-joint count)
Response to tocilizumab in rheumatoid arthritis
Response to treatment for acute lymphoblastic leukemia
Response to zileuton treatment in asthma (FEV1 change interaction)
Response to ziprazidone in schizophrenia
Rheumatoid arthritis (rheumatoid factor and/or anti-CCP seropositive)
Right lateral prefrontal cortical growth
Sarcoidosis (Lofgren's syndrome vs non-Lofgren's syndrome)
Sarcoidosis (non-Lofgren's syndrome without extrapulmonary manifestations)
Schizophrenia, bipolar disorder and depression (combined)
Schizophrenia (inflammation and infection response interaction)
Schizophrenia, schizoaffective disorder or bipolar disorder
Sensory disturbances after bilateral sagittal split ramus osteotomy
Serum bilirubin levels in metabolic syndrome
Serum bilirubin levels x Mediterranean diet adherence interaction in metabolic syndrome
Serum bilirubin levels x sex interaction in metabolic syndrome
Serum metabolite concentrations in chronic kidney disease
Serum metabolite ratios in chronic kidney disease
Serum urate levels in chronic kidney disease
Serum uric acid levels in response to allopurinol in gout
Severe aortic features in Marfan syndrome
Severe malaria (adjusted for sickle cell variant rs334)
Severity of nausea and vomiting of pregnancy
Sexual dimorphism in anthropometric traits
Smoking cessation in chronic obstructive pulmonary disease
Social science traits (pleiotropy) (HIPO component 1)
Soluble interleukin-2 receptor subunit alpha
S-phenylmercapturic acid levels in smokers
Spherical equivalent (joint analysis main effects and education interaction)
Spherical equivalent or myopia (age of diagnosis)
Spontaneous preterm birth (preterm birth)
Staphylococcus aureus nasal carriage (intermittent)
Staphylococcus aureus nasal carriage (persistent)
Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS-TEN)
Subclinical trait of interstitial lung disease (basilar peel-core ratio of HAA on CT scan)
Subjective response to lithium treatment
Subjective response to lithium treatment in bipolar disorder
Superior frontal gyrus grey matter volume
Survival in microsatellite instability low/stable colorectal cancer
Survival in sporadic amyotrophic lateral sclerosis
Susceptibility to persistent hepatitis B virus infection
Systemic lupus erythematosus and Systemic sclerosis
Systemic lupus erythematosus or rheumatoid arthritis
Systolic blood pressure (alcohol consumption interaction)
Systolic blood pressure change trajectories
Systolic blood pressure (cigarette smoking interaction)
Systolic blood pressure in sickle cell anemia
Systolic blood pressure response to hydrochlorothiazide in hypertension
Systolic blood pressure x alcohol consumption interaction (2df test)
Systolic blood pressure x alcohol consumption (light vs heavy) interaction (2df test)
Systolic blood pressure x smoking status (current vs non-current) interaction (1df test)
Systolic blood pressure x smoking status (current vs non-current) interaction (2df test)
Systolic blood pressure x smoking status (ever vs never) interaction (2df test)
Tacrolimus trough concentration in kidney transplant patients
Thiazide-induced adverse metabolic effects in hypertensive patients
Thiopurine-induced alopecia in inflammatory bowel disease
Thiopurine-induced leukopenia in inflammatory bowel disease
Thrombin-activatable fibrinolysis inhibitor activation peptide
Ticagrelor levels in individuals with acute coronary syndromes treated with ticagrelor
Time-dependent creatinine clearance change response to tenofovir treatment in HIV infection
Total bilirubin levels in HIV-1 infection
Total cholesterol change in response to fenofibrate in statin-treated type 2 diabetes
Total ventricular volume (Alzheimer's disease interaction)
Tourette's syndrome or obsessive-compulsive disorder
Triglyceride change in response to fenofibrate in statin-treated type 2 diabetes
Type 1 diabetes and autoimmune thyroid diseases
Type 1 diabetes autoantibodies in high risk HLA genotype individuals (time to event)
Type 1 diabetes in high risk HLA genotype individuals (time to event)
Type 2 diabetes (dietary heme iron intake interaction)
Type 2 diabetes nephropathy including microalbuminuria
Type 2 diabetes (SNP x SNP interaction, 1df)
Type 2 diabetes (SNP x SNP interaction, 2df)
Urinary albumin excretion (no hypertensive medication)
Urinary albumin-to-creatinine ratio in non-diabetics
Urinary metabolite concentrations in chronic kidney disease
Urinary metabolite ratios in chronic kidney disease
Uterine fibroid number (single vs multiple)
Uterine fibroid size (maximum dimension)
Vascular endothelial growth factor levels
Vein graft stenosis in coronary artery bypass grafting
Venous thromboembolism adjusted for sickle cell variant rs77121243-T
Very long-chain saturated fatty acid levels (fatty acid 20:0)
Very long-chain saturated fatty acid levels (fatty acid 22:0)
Vincristine-induced peripheral neuropathy in acute lymphoblastic leukemia
Virologic severity in Herpes simplex virus type 2 infection
Visceral adipose tissue adjusted for BMI
Visceral adipose tissue/subcutaneous adipose tissue ratio
Vitamin D levels (dietary vitamin D intake interaction)
Waist circumference adjusted for BMI (adjusted for smoking behaviour)
Waist circumference adjusted for BMI in active individuals
Waist circumference adjusted for BMI in inactive individuals
Waist circumference adjusted for BMI in non-smokers
Waist circumference adjusted for BMI in smokers
Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction)
Waist circumference adjusted for BMI (joint analysis main effects and smoking interaction)
Waist circumference adjusted for body mass index
Waist Circumference - Triglycerides (WC-TG)
Waist-to-hip circumference ratio (dietary energy interaction)
Waist-to-hip circumference ratio (ever vs never smoking interaction)
Waist-to-hip circumference ratio (smoking years interaction)
Waist-to-hip ratio adjusted for BMI (adjusted for smoking behaviour)
Waist-to-hip ratio adjusted for BMI (age <50)
Waist-to-hip ratio adjusted for BMI (age >50)
Waist-to-hip ratio adjusted for BMI in active individuals
Waist-to-hip ratio adjusted for BMI in inactive individuals
Waist-to-hip ratio adjusted for BMI in non-smokers
Waist-to-hip ratio adjusted for BMI (joint analysis for main effect and physical activity interaction)
Waist-to-hip ratio adjusted for BMI (joint analysis main effects and smoking interaction)
Waist-to-hip ratio adjusted for BMI x sex interaction
Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)
Waist-to-hip ratio adjusted for body mass index
White matter hyperintensities in ischemic stroke
White matter integrity (bipolar disorder risk interaction)
White matter lesion progression (adjusted for white matter lesion burden at baseline)
Whole-brain volume (Alzheimer's disease interaction)
Worry too long after an embarrassing experience
Yu-Zhi constitution type in type 2 diabetes
Abnormal activity of mitochondrial respiratory chain (HP:0011922)
Abnormal auditory evoked potentials (HP:0006958)
Abnormal autonomic nervous system physiology (HP:0012332)
Abnormal biliary tract morphology (HP:0012440)
Abnormal biliary tract physiology (HP:0012439)
Abnormal blistering of the skin (HP:0008066)
Abnormal connection of the cardiac segments (HP:0011545)
Abnormal cortical bone morphology (HP:0003103)
Abnormal delayed hypersensitivity skin test (HP:0002963)
Abnormal finger flexion creases (HP:0006143)
Abnormal foot bone ossification (HP:0010675)
Abnormal hair laboratory examination (HP:0003328)
Abnormal hand bone ossification (HP:0010660)
Abnormal isoelectric focusing of serum transferrin (HP:0003160)
Abnormalities of placenta or umbilical cord (HP:0001194)
Abnormality involving the epiphyses of the lower limbs (HP:0006500)
Abnormality involving the epiphyses of the upper limbs (HP:0003839)
Abnormality of abdominal situs (HP:0011620)
Abnormality of alanine metabolism (HP:0010916)
Abnormality of alkaline phosphatase activity (HP:0004379)
Abnormality of aromatic amino acid family metabolism (HP:0004338)
Abnormality of aspartate family amino acid metabolism (HP:0010899)
Abnormality of B cell number (HP:0010975)
Abnormality of binocular vision (HP:0011514)
Abnormality of calcium-phosphate metabolism (HP:0100530)
Abnormality of carpal bone ossification (HP:0006257)
Abnormality of cells of the erythroid lineage (HP:0012130)
Abnormality of cells of the lymphoid lineage (HP:0012140)
Abnormality of chloride homeostasis (HP:0011422)
Abnormality of chromosome segregation (HP:0002916)
Abnormality of chromosome stability (HP:0003220)
Abnormality of complement system (HP:0005339)
Abnormality of dental color (HP:0011073)
Abnormality of dicarboxylic acid metabolism (HP:0010995)
Abnormality of endocrine pancreas physiology (HP:0012093)
Abnormality of fatty-acid metabolism (HP:0004359)
Abnormality of femoral epiphyses (HP:0006499)
Abnormality of glutamine family amino acid metabolism (HP:0010902)
Abnormality of glycine metabolism (HP:0010895)
Abnormality of glycolipid metabolism (HP:0010969)
Abnormality of glycosaminoglycan metabolism (HP:0004371)
Abnormality of glycosphingolipid metabolism (HP:0004343)
Abnormality of hair growth rate (HP:0011363)
Abnormality of homocysteine metabolism (HP:0010919)
Abnormality of incisor morphology (HP:0011063)
Abnormality of intracranial pressure (HP:0012640)
Abnormality of iron homeostasis (HP:0011031)
Abnormality of lateral ventricle (HP:0030047)
Abnormality of liposaccharide metabolism (HP:0010968)
Abnormality of long-chain fatty-acid metabolism (HP:0010964)
Abnormality of macular pigmentation (HP:0008002)
Abnormality of magnesium homeostasis (HP:0004921)
Abnormality of male internal genitalia (HP:0000022)
Abnormality of methionine metabolism (HP:0010901)
Abnormality of midbrain morphology (HP:0002418)
Abnormality of molar morphology (HP:0011070)
Abnormality of monocarboxylic acid metabolism (HP:0010996)
Abnormality of mucopolysaccharide metabolism (HP:0011020)
Abnormality of nucleobase metabolism (HP:0010932)
Abnormality of ocular smooth pursuit (HP:0000617)
Abnormality of oral frenula (HP:0000190)
Abnormality of pain sensation (HP:0010832)
Abnormality of permanent molar morphology (HP:0011071)
Abnormality of placental membranes (HP:0011409)
Abnormality of polysaccharide metabolism (HP:0011012)
Abnormality of potassium homeostasis (HP:0011042)
Abnormality of primary teeth (HP:0006481)
Abnormality of proline metabolism (HP:0010907)
Abnormality of purine metabolism (HP:0004352)
Abnormality of pyrimidine metabolism (HP:0004353)
Abnormality of pyruvate family amino acid metabolism (HP:0010915)
Abnormality of renal excretion (HP:0011036)
Abnormality of renal resorption (HP:0011038)
Abnormality of renin-angiotensin system (HP:0000847)
Abnormality of saccadic eye movements (HP:0000570)
Abnormality of secondary sexual hair (HP:0009888)
Abnormality of serine family amino acid metabolism (HP:0010894)
Abnormality of serum amino acid levels (HP:0003112)
Abnormality of Sharpey fibers (HP:0100685)
Abnormality of skeletal muscle fiber size (HP:0012084)
Abnormality of skull ossification (HP:0002703)
Abnormality of small intestinal villus morphology (HP:0011472)
Abnormality of sodium homeostasis (HP:0010931)
Abnormality of subcutaneous fat tissue (HP:0001001)
Abnormality of sulfur amino acid metabolism (HP:0004339)
Abnormality of T cell number (HP:0011839)
Abnormality of T cell physiology (HP:0011840)
Abnormality of the 1st metacarpal (HP:0010009)
Abnormality of the 2nd finger (HP:0004100)
Abnormality of the 4th metacarpal (HP:0010012)
Abnormality of the acetabulum (HP:0003170)
Abnormality of the Achilles tendon (HP:0005109)
Abnormality of the alveolar ridges (HP:0006477)
Abnormality of the anterior chamber (HP:0000593)
Abnormality of the anterior horn cell (HP:0006802)
Abnormality of the antihelix (HP:0009738)
Abnormality of the aortic arch (HP:0012303)
Abnormality of the astrocytes (HP:0100707)
Abnormality of the axillary hair (HP:0100134)
Abnormality of the basal ganglia (HP:0002134)
Abnormality of the calcaneus (HP:0008364)
Abnormality of the calf musculature (HP:0001430)
Abnormality of the carotid arteries (HP:0005344)
Abnormality of the clitoris (HP:0000056)
Abnormality of the columella (HP:0009929)
Abnormality of the common coagulation pathway (HP:0010990)
Abnormality of the corticospinal tract (HP:0002492)
Abnormality of the costochondral junction (HP:0000919)
Abnormality of the dental pulp (HP:0006479)
Abnormality of the dental root (HP:0006486)
Abnormality of the diencephalon (HP:0010662)
Abnormality of the distal phalanges of the toes (HP:0010182)
Abnormality of the distal phalanx of the thumb (HP:0009617)
Abnormality of the duodenum (HP:0002246)
Abnormality of the endocardium (HP:0004306)
Abnormality of the epiphyses of the hand (HP:0005924)
Abnormality of the epiphyses of the phalanges of the hand (HP:0005920)
Abnormality of the epiphysis of the femoral head (HP:0010574)
Abnormality of the femoral head (HP:0003368)
Abnormality of the fetal cardiovascular system (HP:0010948)
Abnormality of the fingernails (HP:0001231)
Abnormality of the fingertips (HP:0001211)
Abnormality of the foot musculature (HP:0001436)
Abnormality of the frontal sinuses (HP:0002687)
Abnormality of the gallbladder (HP:0005264)
Abnormality of the gastric mucosa (HP:0004295)
Abnormality of the heme biosynthetic pathway (HP:0010472)
Abnormality of the hepatic vasculature (HP:0006707)
Abnormality of the hip-girdle musculature (HP:0001445)
Abnormality of the humeroradial joint (HP:0100744)
Abnormality of the intervertebral disk (HP:0005108)
Abnormality of the intrinsic pathway (HP:0010989)
Abnormality of the labia majora (HP:0012881)
Abnormality of the labia minora (HP:0012880)
Abnormality of the lacrimal duct (HP:0011481)
Abnormality of the left ventricular outflow tract (HP:0011103)
Abnormality of the level of lipoprotein cholesterol (HP:0010979)
Abnormality of the line of Schwalbe (HP:0008048)
Abnormality of the lower motor neuron (HP:0002366)
Abnormality of the lumbar spine (HP:0100712)
Abnormality of the metopic suture (HP:0005556)
Abnormality of the middle phalanges of the hand (HP:0009833)
Abnormality of the middle phalanges of the toes (HP:0010183)
Abnormality of the middle phalanx of the 5th finger (HP:0004219)
Abnormality of the motor neurons (HP:0002450)
Abnormality of the musculature of the hand (HP:0001421)
Abnormality of the musculature of the pelvis (HP:0001469)
Abnormality of the nasal mucosa (HP:0000433)
Abnormality of the nasal septum (HP:0000419)
Abnormality of the nasolacrimal system (HP:0000614)
Abnormality of the neuromuscular junction (HP:0003398)
Abnormality of the odontoid process (HP:0003310)
Abnormality of the pancreatic islet cells (HP:0006476)
Abnormality of the parathyroid morphology (HP:0011766)
Abnormality of the parietal bone (HP:0002696)
Abnormality of the pericardium (HP:0001697)
Abnormality of the peritoneum (HP:0002585)
Abnormality of the periventricular white matter (HP:0002518)
Abnormality of the phalanges of the 2nd finger (HP:0009541)
Abnormality of the phalanges of the 5th finger (HP:0004213)
Abnormality of the phalanges of the hallux (HP:0010057)
Abnormality of the preputium (HP:0100587)
Abnormality of the prostate (HP:0008775)
Abnormality of the proximal phalanges of the hand (HP:0009834)
Abnormality of the pubic bones (HP:0003172)
Abnormality of the pulmonary veins (HP:0011718)
Abnormality of the radial head (HP:0003995)
Abnormality of the renal collecting system (HP:0004742)
Abnormality of the renal cortex (HP:0011035)
Abnormality of the renal medulla (HP:0100957)
Abnormality of the right ventricle (HP:0001707)
Abnormality of the salivary glands (HP:0010286)
Abnormality of the sella turcica (HP:0002679)
Abnormality of the septum pellucidum (HP:0007375)
Abnormality of the shoulder girdle musculature (HP:0001435)
Abnormality of the thoracic spine (HP:0100711)
Abnormality of the tricuspid valve (HP:0001702)
Abnormality of the umbilical cord (HP:0010881)
Abnormality of the upper arm (HP:0001454)
Abnormality of the vasculature of the conjunctiva (HP:0008054)
Abnormality of the vertebral endplates (HP:0005106)
Abnormality of the vitamin B12 metabolism (HP:0004341)
Abnormality of the vitreous humor (HP:0004327)
Abnormality of the vocal cords (HP:0008777)
Abnormality of the wing of the ilium (HP:0011867)
Abnormality of transition element cation homeostasis (HP:0011030)
Abnormality of urine glucose concentration (HP:0011016)
Abnormality of vision evoked potentials (HP:0000649)
Abnormality of vitamin B metabolism (HP:0004340)
Abnormality of vitamin metabolism (HP:0100508)
Abnormal large intestine physiology (HP:0012700)
Abnormal mitochondria in muscle tissue (HP:0008316)
Abnormal number of erythroid precursors (HP:0012131)
Abnormal number of incisors (HP:0011064)
Abnormal ossification of hand bones (HP:0005921)
Abnormal protein N-linked glycosylation (HP:0012347)
Abnormal respiratory epithelium morphology (HP:0012253)
Abnormal respiratory motile cilium morphology (HP:0005938)
Abnormal respiratory motile cilium physiology (HP:0012261)
Abnormal rod and cone electroretinograms (HP:0008323)
Abnormal trabecular bone morphology (HP:0100671)
Abnormal umbilical cord blood vessels (HP:0011403)
Abnormal urine phosphate concentration (HP:0012599)
Absent rod-and cone-mediated responses on ERG (HP:0007688)
Anomalous pulmonary venous return (HP:0010772)
Aplasia/Hypoplasia affecting the fundus (HP:0008057)
Aplasia/Hypoplasia affecting the retina (HP:0008061)
Aplasia/Hypoplasia involving the carpal bones (HP:0006502)
Aplasia/Hypoplasia involving the femoral head and neck (HP:0009108)
Aplasia/Hypoplasia involving the musculature (HP:0001460)
Aplasia/Hypoplasia involving the pelvis (HP:0009103)
Aplasia/Hypoplasia involving the sinuses (HP:0009120)
Aplasia/Hypoplasia involving the vertebral column (HP:0008518)
Aplasia/Hypoplasia of metatarsal bones (HP:0001964)
Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)
Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)
Aplasia/Hypoplasia of the 5th finger (HP:0006262)
Aplasia/Hypoplasia of the abdominal wall musculature (HP:0010318)
Aplasia/Hypoplasia of the brainstem (HP:0007362)
Aplasia/Hypoplasia of the breasts (HP:0010311)
Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)
Aplasia/Hypoplasia of the clavicles (HP:0006710)
Aplasia/Hypoplasia of the earlobes (HP:0009906)
Aplasia/hypoplasia of the femur (HP:0005613)
Aplasia/Hypoplasia of the fibula (HP:0006492)
Aplasia/Hypoplasia of the fovea (HP:0008060)
Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)
Aplasia/Hypoplasia of the hallux (HP:0008362)
Aplasia/hypoplasia of the humerus (HP:0006507)
Aplasia/Hypoplasia of the lens (HP:0008063)
Aplasia/Hypoplasia of the macula (HP:0008059)
Aplasia/Hypoplasia of the middle phalanges of the hand (HP:0009843)
Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)
Aplasia/Hypoplasia of the nipples (HP:0006709)
Aplasia/Hypoplasia of the optic nerve (HP:0008058)
Aplasia/Hypoplasia of the patella (HP:0006498)
Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376)
Aplasia/Hypoplasia of the phalanges of the thumb (HP:0009658)
Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173)
Aplasia/Hypoplasia of the pubic bone (HP:0009104)
Aplasia/Hypoplasia of the sacrum (HP:0008517)
Aplasia/Hypoplasia of the scapulae (HP:0006713)
Aplasia/Hypoplasia of the spleen (HP:0010451)
Aplasia/Hypoplasia of the sternum (HP:0006714)
Aplasia/Hypoplasia of the thymus (HP:0010515)
Aplasia/Hypoplasia of the tibia (HP:0005772)
Aplasia/Hypoplasia of the tongue (HP:0010295)
Aplasia/Hypoplasia of the ulna (HP:0006495)
Aplasia/hypoplasia of the uterus (HP:0008684)
Aplasia/Hypoplasia of the uvula (HP:0010293)
Aplasia/Hypoplasia of the vertebrae (HP:0008515)
Aplasia involving bones of the extremities (HP:0009825)
Aplasia involving bones of the upper limbs (HP:0009823)
Aplasia involving forearm bones (HP:0009822)
Aplasia of the phalanges of the hand (HP:0009802)
Atresia of the external auditory canal (HP:0000413)
Atrophy/Degeneration involving motor neurons (HP:0007373)
Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)
Attention deficit hyperactivity disorder (HP:0007018)
Attenuation of retinal blood vessels (HP:0007843)
Beaking of vertebral bodies (HP:0004568)
Benign neoplasm of the central nervous system (HP:0100835)
Bilateral sensorineural hearing impairment (HP:0008619)
Birth length less than 3rd percentile (HP:0003561)
Bony spicule pigmentary retinopathy (HP:0007737)
Broad distal phalanx of finger (HP:0009836)
Broad phalanges of the hand (HP:0009768)
Centrally nucleated skeletal muscle fibers (HP:0003687)
Chromosomal breakage induced by crosslinking agents (HP:0003221)
Chronic obstructive pulmonary disease (HP:0006510)
Clinodactyly of the 5th finger (HP:0004209)
Complete atrioventricular canal defect (HP:0001674)
Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)
Congenital malformation of the right heart (HP:0011723)
Congenital nonbullous ichthyosiform erythroderma (HP:0007479)
Congenital sensorineural hearing impairment (HP:0008527)
Congenital stationary night blindness (HP:0007642)
Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)
Decreased activity of mitochondrial respiratory chain (HP:0008972)
Decreased circulating renin level (HP:0003351)
Decreased electroretinogram (ERG) amplitude (HP:0000654)
Decreased motor nerve conduction velocity (HP:0003431)
Decreased number of large peripheral myelinated nerve fibers (HP:0003387)
Decreased number of peripheral myelinated nerve fibers (HP:0003380)
Degeneration of anterior horn cells (HP:0002398)
Degeneration of the lateral corticospinal tracts (HP:0002314)
Delayed closure of the anterior fontanelle (HP:0001476)
Delayed cranial suture closure (HP:0000270)
Delayed gross motor development (HP:0002194)
Dilatation of the ascending aorta (HP:0005111)
Disproportionate short-trunk short stature (HP:0003521)
Distal lower limb amyotrophy (HP:0008944)
Distal lower limb muscle weakness (HP:0009053)
Distal upper limb amyotrophy (HP:0007149)
Double outlet right ventricle (HP:0001719)
Downturned corners of mouth (HP:0002714)
Duplication of thumb phalanx (HP:0009942)
Dynein arm defect of respiratory motile cilia (HP:0012255)
EEG with generalized epileptiform discharges (HP:0011198)
Elevated circulating parathyroid hormone (PTH) level (HP:0003165)
Elevated erythrocyte sedimentation rate (HP:0003565)
Everted lower lip vermilion (HP:0000232)
Failure to thrive in infancy (HP:0001531)
Flat capital femoral epiphysis (HP:0003370)
Generalized hypopigmentation of hair (HP:0011358)
Hereditary nonpolyposis colorectal carcinoma (HP:0006716)
Hypopigmentation of the fundus (HP:0007894)
Hypoplasia of dental enamel (HP:0006297)
Hypoplasia of the brainstem (HP:0002365)
Hypoplasia of the capital femoral epiphysis (HP:0003090)
Hypoplasia of the corpus callosum (HP:0002079)
Hypoplasia of the odontoid process (HP:0003311)
Hypoplastic female external genitalia (HP:0012815)
Hyporeflexia of lower limbs (HP:0002600)
Impaired vibration sensation in the lower limbs (HP:0002166)
Increased circulating renin level (HP:0000848)
Increased density of long bones (HP:0006392)
Increased hepatocellular lipid droplets (HP:0006565)
Increased intramyocellular lipid droplets (HP:0012240)
Increased mean platelet volume (HP:0011877)
Increased muscle lipid content (HP:0009058)
Increased neuronal autofluorescent lipopigment (HP:0002074)
Increased variability in muscle fiber diameter (HP:0003557)
Inflammation of the large intestine (HP:0002037)
Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)
Joint contractures involving the joints of the feet (HP:0100492)
Lipid accumulation in hepatocytes (HP:0006561)
Low-set, posteriorly rotated ears (HP:0000368)
Malignant gastrointestinal tract tumors (HP:0006749)
Malignant neoplasm of the central nervous system (HP:0100836)
Medial flaring of the eyebrow (HP:0010747)
Mildly elevated creatine phosphokinase (HP:0008180)
Morphological abnormality of the inner ear (HP:0011390)
Morphological abnormality of the middle ear (HP:0008609)
Morphological abnormality of the pyramidal tract (HP:0002062)
Muscle abnormality related to mitochondrial dysfunction (HP:0003800)
Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)
Muscle fiber inclusion bodies (HP:0100299)
Muscle hypertrophy of the lower extremities (HP:0008968)
Muscular hypotonia of the trunk (HP:0008936)
Neonatal short-limb short stature (HP:0008921)
Neoplasm of striated muscle (HP:0009728)
Neoplasm of the adrenal cortex (HP:0100641)
Neoplasm of the adrenal gland (HP:0100631)
Neoplasm of the oral cavity (HP:0100649)
Neoplasm of the peripheral nervous system (HP:0100007)
Neoplasm of the respiratory system (HP:0100606)
Neoplasm of the small intestine (HP:0100833)
Neoplasm of the thyroid gland (HP:0100031)
Neoplasm of the tracheobronchial system (HP:0100552)
Neuronal loss in central nervous system (HP:0002529)
Opacification of the corneal stroma (HP:0007759)
Osteolytic defects of the hand bones (HP:0009699)
Osteolytic defects of the phalanges of the hand (HP:0009771)
Parkinsonism with favorable response to dopaminergic medication (HP:0002548)
Partial agenesis of the corpus callosum (HP:0001338)
Partial duplication of the phalanx of hand (HP:0009999)
Partial duplication of thumb phalanx (HP:0009944)
Patchy hypopigmentation of hair (HP:0011365)
Pelvic girdle muscle weakness (HP:0003749)
Peripheral primitive neuroectodermal neoplasm (HP:0030067)
Persistence of primary teeth (HP:0006335)
Premature loss of primary teeth (HP:0006323)
Premature rupture of membranes (HP:0001788)
Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)
Progressive inability to walk (HP:0002505)
Progressive sensorineural hearing impairment (HP:0000408)
Prolonged partial thromboplastin time (HP:0003645)
Proximal placement of thumb (HP:0009623)
Recurrent bacterial skin infections (HP:0005406)
Recurrent cutaneous fungal infections (HP:0011370)
Recurrent gram-negative bacterial infections (HP:0005420)
Recurrent lower respiratory tract infections (HP:0002783)
Recurrent urinary tract infections (HP:0000010)
Reduced antithrombin III activity (HP:0001976)
Reduced subcutaneous adipose tissue (HP:0003758)
Respiratory insufficiency due to defective ciliary clearance (HP:0200073)
Respiratory insufficiency due to muscle weakness (HP:0002747)
Severe global developmental delay (HP:0011344)
Short distal phalanx of finger (HP:0009882)
Short middle phalanx of finger (HP:0005819)
Short middle phalanx of the 5th finger (HP:0004220)
Shoulder girdle muscle weakness (HP:0003547)
Single transverse palmar crease (HP:0000954)
Slow saccadic eye movements (HP:0000514)
Stage 5 chronic kidney disease (HP:0003774)
Stenosis of the external auditory canal (HP:0000402)
Subacute progressive viral hepatitis (HP:0006572)
Submucous cleft hard palate (HP:0000176)
Supernumerary bones of the axial skeleton (HP:0009144)
Symphalangism affecting the phalanges of the hand (HP:0009773)
Synostosis involving bones of the feet (HP:0009140)
Synostosis involving bones of the hand (HP:0004278)
Synostosis involving bones of the lower limbs (HP:0009138)
Synostosis involving the elbow (HP:0003938)
Teleangiectasia of the skin (HP:0100585)
Transitional cell carcinoma of the bladder (HP:0006740)
Transposition of the great arteries (HP:0001669)
Type 1 muscle fiber predominance (HP:0003803)
Type 2 muscle fiber atrophy (HP:0003554)
Type I transferrin isoform profile (HP:0003642)
Ulnar deviation of the hand or of fingers of the hand (HP:0001193)
Ulnar deviation of the wrist (HP:0003049)
Upper motor neuron abnormality (HP:0002127)
Urinary bladder sphincter dysfunction (HP:0002839)
Widely patent fontanelles and sutures (HP:0004492)