Human Diseases

All diseases

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• Inborn genetic diseases 1197
• Intellectual disability 264
• Rheumatoid arthritis 200
• Multiple sclerosis 198
• Melanoma 171
• Retinal dystrophy 158
• Neurodevelopmental disorder 147
• skin melanoma 146
• type 1 diabetes mellitus 120
• narcolepsy 110
• Cardiovascular phenotype 109
• peripheral nervous system disease 103
• Thyroid cancer, nonmedullary, 1 98
• Global developmental delay 87
• Systemic lupus erythematosus 84
• Hepatocellular carcinoma 81
• Hereditary cancer-predisposing syndrome 81
• Colorectal cancer 78
• human immunodeficiency virus infectious disease 76
• Retinitis pigmentosa 71
• Seizure 69
• Prostate cancer 66
• Glioblastoma 63
• Neurodevelopmental delay 63
• Short stature 59
• Ovarian cancer 50
• Nonpapillary renal cell carcinoma 49
• systemic scleroderma 49
• Ovarian serous cystadenocarcinoma 48
• Rare genetic deafness 47
• Acute myeloid leukemia 45
• Familial cancer of breast 44
• Abnormal brain morphology 43
• Mitochondrial disease 43
• Gastric cancer 42
• Lung cancer 42
• breast cancer 41
• Colon adenocarcinoma 39
• Primary ciliary dyskinesia 39
• Charcot-Marie-Tooth disease 37
• Multiple myeloma 35
• Microcephaly 33
• colonic benign neoplasm 32
• Hypercholesterolemia, familial, 1 31
• lung non-small cell carcinoma 31
• Male infertility 31
• Neoplasm 31
• pancreatic ductal adenocarcinoma 31
• 6 conditions 30
• Hearing loss, autosomal recessive 29
• Autism spectrum disorder 28
• chronic lymphocytic leukemia 27
• Leigh syndrome 27
• Non-obstructive azoospermia 27
• Spastic paraplegia 27
• viral infectious disease 27
• cancer 26
• Cholangiocarcinoma 26
• Fetal anomalies with a likely genetic cause 26
• Malignant tumor of urinary bladder 26
• Sjogren's syndrome 26
• Familial thoracic aortic aneurysm and aortic dissection 25
• Hereditary spastic paraplegia 25
• invasive ductal carcinoma 25
• Lung adenocarcinoma 25
• Moyamoya angiopathy 25
• Severe combined immunodeficiency disease 25
• brain glioma 24
• Cardiomyopathy 24
• Joubert syndrome 24
• Cervical cancer 23
• Abnormality of the nervous system 22
• Clear cell carcinoma of kidney 22
• esophageal cancer 22
• Schizophrenia 22
• ankylosing spondylitis 21
• Autism 21
• Bardet-Biedl syndrome 21
• Developmental cataract 21
• Hereditary breast ovarian cancer syndrome 21
• Inherited Immunodeficiency Diseases 21
• Pancreatic adenocarcinoma 21
• Premature ovarian failure 21
• Amyotrophic lateral sclerosis 20
• castration-resistant prostate carcinoma 20
• Epileptic encephalopathy 20
• Hearing impairment 20
• hepatitis C 20
• Primary dilated cardiomyopathy 20
• prostate adenocarcinoma 20
• Type 2 diabetes mellitus 20
• 7 conditions 19
• allergic disease 19
• Sarcoma 19
• stomach cancer 19
• Thrombocytopenia 19
• Autoinflammatory syndrome 18
• berylliosis 18
• Developmental and epileptic encephalopathy 18
• Genetic non-acquired premature ovarian failure 18
• Hypertrophic cardiomyopathy 18
• Leber congenital amaurosis 18
• Nephrotic syndrome 18
• Retinal disorder 18
• Susceptibility to severe COVID-19 18
• Esophageal atresia/tracheoesophageal fistula 17
• Joubert syndrome and related disorders 17
• lung small cell carcinoma 17
• Neurodevelopmental abnormality 17
• onchocerciasis 17
• Uterine corpus endometrial carcinoma 17
• Abnormal facial shape 16
• adult hepatocellular carcinoma 16
• Azoospermia 16
• Chronic myeloid leukemia 16
• Kartagener syndrome 16
• Lyme disease 16
• RASopathy 16
• autoimmune hepatitis 15
• Meckel-Gruber syndrome 15
• Nephronophthisis 15
• neuromyelitis optica 15
• Psoriasis 15
• triple-receptor negative breast cancer 15
• Diamond-Blackfan anemia 14
• hematologic cancer 14
• Her2-receptor negative breast cancer 14
• influenza 14
• Malignant tumor of esophagus 14
• Mitochondrial complex I deficiency 14
• Nonsyndromic genetic hearing loss 14
• pancreatic carcinoma 14
• prostatic urethral cancer 14
• 8 conditions 13
• Abnormal bleeding 13
• Autosomal recessive retinitis pigmentosa 13
• Carcinoma of colon 13
• Cerebellar ataxia 13
• Cerebral visual impairment and intellectual disability 13
• Childhood-onset schizophrenia 13
• Cone-rod dystrophy 13
• Congenital anomaly of kidney and urinary tract 13
• hepatitis B 13
• Her2-receptor positive breast cancer 13
• Jeune thoracic dystrophy 13
• Mitochondrial complex IV deficiency, nuclear type 1 13
• Non-immune hydrops fetalis 13
• Noonan syndrome 13
• Pontoneocerebellar hypoplasia 13
• Renal tubulopathies 13
• Sensorineural hearing loss disorder 13
• Abnormality of the musculature 12
• Cerebral palsy 12
• Chagas disease 12
• Fanconi anemia 12
• gastric adenocarcinoma 12
• head and neck squamous cell carcinoma 12
• Long QT syndrome 12
• Monogenic hearing loss 12
• Optic atrophy 12
• Osteogenesis imperfecta 12
• Papillary renal cell carcinoma type 1 12
• Peroxisome biogenesis disorder 12
• Respiratory ciliopathies including non-CF bronchiectasis 12
• Spastic ataxia 12
• Autosomal recessive limb-girdle muscular dystrophy 11
• brain glioblastoma multiforme 11
• Differences in sex development 11
• Dystonic disorder 11
• Early-infantile DEE 11
• Familial hypercholesterolemia 11
• Neuronal ceroid lipofuscinosis 11
• osteoarthritis 11
• pancreatic cancer 11
• primary biliary cholangitis 11
• Usher syndrome 11
• Abnormal heart morphology 10
• Arthrogryposis multiplex congenita 10
• biliary tract cancer 10
• carbamazepine allergy 10
• carcinoma 10
• Developmental disorder 10
• Epilepsy 10
• Hypotonia 10
• Lamellar ichthyosis 10
• Reduced sperm motility 10
• sleep disorder 10
• systemic juvenile rheumatoid arthritis 10
• Abnormal sperm morphology 9
• Behcet's disease 9
• Cerebral arteriovenous malformation 9
• collecting duct carcinoma 9
• colon cancer 9
• colorectal adenocarcinoma 9
• Complex neurodevelopmental disorder 9
• Congenital disorder of glycosylation 9
• Congenital long QT syndrome 9
• Craniosynostosis syndrome 9
• Fetal akinesia deformation sequence 1 9
• Glioma susceptibility 1 9
• Glycogen storage disease 9
• Hermansky-Pudlak syndrome 9
• leiomyosarcoma 9
• Leukodystrophy 9
• Lissencephaly 9
• Oligospermia 9
• Renal cell carcinoma 9
• sarcoidosis 9
• Severe global developmental delay 9
• Squamous cell carcinoma of the head and neck 9
• Tetralogy of Fallot 9
• Amelogenesis imperfecta 8
• autoimmune uveitis 8
• Bardet-Biedl syndrome 1 8
• Charcot-Marie-Tooth disease type 4 8
• Congenital myasthenic syndrome 8
• Dyskeratosis congenita 8
• Ear malformation 8
• Generalized hypotonia 8
• intrahepatic cholangiocarcinoma 8
• mixed connective tissue disease 8
• Neuromuscular disease 8
• Obesity 8
• pemphigus 8
• Pulmonary artery atresia 8
• Severe intellectual disability 8
• Squamous cell lung carcinoma 8
• Synovial sarcoma 8
• Achromatopsia 7
• Atypical hemolytic-uremic syndrome 7
• Autistic behavior 7
• autoimmune vasculitis 7
• Autosomal dominant polycystic liver disease 7
• Charcot-Marie-Tooth disease type 2 7
• Cone dystrophy 7
• Congenital hypothyroidism 7
• Connective tissue disorder 7
• Delayed speech and language development 7
• Early onset severe obesity 7
• Ehlers-Danlos syndrome 7
• esophagus squamous cell carcinoma 7
• Familial aortopathy 7
• Frontotemporal dementia 7
• gallbladder cancer 7
• Hydrocephalus 7
• Leber optic atrophy 7
• lymphoid leukemia 7
• Microphthalmia 7
• Mitochondrial complex I deficiency, nuclear type 1 7
• Myoepithelial tumor 7
• Neurodegeneration with brain iron accumulation 7
• Peripheral neuropathy 7
• Permanent neonatal diabetes mellitus 7
• Premature ovarian insufficiency 7
• Primary Mitochondrial Disorders 7
• Pulmonary arterial hypertension 7
• renal carcinoma 7
• Severe congenital neutropenia 7
• Syndromic intellectual disability 7
• Tip-toe gait 7
• Wilson disease 7
• Xeroderma pigmentosum 7
• 11 conditions 6
• 9 conditions 6
• Abnormality of metabolism/homeostasis 6
• Abnormality of the eye 6
• Abnormality of the skeletal system 6
• Alagille syndrome 6
• alpha 1-antitrypsin deficiency 6
• anaplastic astrocytoma 6
• Anterior segment dysgenesis 6
• Arrhythmogenic right ventricular cardiomyopathy 6
• Asphyxiating thoracic dystrophy 3 6
• autoimmune disease of skin and connective tissue 6
• autoimmune thyroiditis 6
• Centronuclear myopathy 6
• Chronic granulomatous disease 6
• Chronic obstructive pulmonary disease 6
• Ciliopathy 6
• Congenital adrenal hyperplasia 6
• Congenital cerebellar hypoplasia 6
• Congenital stationary night blindness 6
• Developmental and epileptic encephalopathy, 1 6
• Developmental delay 6
• Dilated cardiomyopathy 1A 6
• Familial pancreatic carcinoma 6
• Heterotaxy 6
• high grade glioma 6
• Hirschsprung disease, susceptibility to, 1 6
• HTLV-1-associated myelopathy/tropical spastic paraparesis 6
• Hypogonadotropic hypogonadism 6
• Ichthyosis 6
• Ichthyosis and erythrokeratoderma 6
• Junctional epidermolysis bullosa 6
• Loeys-Dietz syndrome 6
• Marfanoid habitus and intellectual disability 6
• myocardial infarction 6
• Neurodevelopmental disorders 6
• NK-cell enteropathy 6
• Ovarian neoplasm 6
• Parkinson disease, late-onset 6
• Parkinson's disease 6
• reactive arthritis 6
• sclerosing cholangitis 6
• Self-limited epilepsy with centrotemporal spikes 6
• Usher syndrome type 1 6
• Vanishing white matter disease 6
• 10 conditions 5
• Abnormality of the skin 5
• Anaplastic oligodendroglioma 5
• Ateleiotic dwarfism 5
• atopic dermatitis 5
• autoimmune disease 5
• autoimmune glomerulonephritis 5
• autoimmune thrombocytopenic purpura 5
• Bartter syndrome 5
• Bilateral sensorineural hearing impairment 5
• bile duct adenocarcinoma 5
• Cardiac arrhythmia 5
• Cataract 5
• Chondrosarcoma 5
• Combined immunodeficiency 5
• Congenital heart disease 5
• Congenital ocular coloboma 5
• De Lange syndrome 5
• Deafness 5
• Disorders of Intracellular Cobalamin Metabolism 5
• Distal renal tubular acidosis 5
• Failure to thrive 5
• Fanconi anemia complementation group A 5
• Flexion contracture 5
• Focal segmental glomerulosclerosis 5
• head and neck cancer 5
• Hereditary nonpolyposis colorectal neoplasms 5
• Hereditary pancreatitis 5
• Hereditary pheochromocytoma and paraganglioma 5
• Hypogonadotropic hypogonadism 7 with or without anosmia 5
• Idiopathic generalized epilepsy 5
• Immunodeficiency 5
• intrahepatic gall duct cancer 5
• Kidney stone 5
• Lymphoma 5
• Lynch syndrome 5
• Macrothrombocytopenia 5
• malignant astrocytoma 5
• Maturity-onset diabetes of the young 5
• Medulloblastoma 5
• Meier-Gorlin syndrome 5
• Methylmalonic acidemia 5
• Mild intellectual disability 5
• myasthenia gravis 5
• Myelodysplastic syndrome 5
• Osteopetrosis 5
• osteosarcoma 5
• ovary epithelial cancer 5
• Perrault syndrome 5
• Perrault syndrome 1 5
• Pheochromocytoma 5
• Primary ciliary dyskinesia 3 5
• Primary familial hypertrophic cardiomyopathy 5
• Primary myelofibrosis 5
• Progressive myoclonic epilepsy 5
• Pulmonary fibrosis 5
• Retinitis pigmentosa 40 5
• Rod-cone dystrophy 5
• Scoliosis 5
• Short rib-polydactyly syndrome 5
• Shwachman-Diamond syndrome 1 5
• Situs inversus 5
• Syndromic Monogenic Diabetes 5
• Thymoma 5
• Timothy grass allergy 5
• urinary bladder cancer 5
• Uveal melanoma 5
• Young-onset Parkinson disease 5
• Zellweger spectrum disorders 5