HuGE Navigator Gene-Phenotype Associations Dataset

Description gene-phenotype associations extracted from published GWAS by automated text-mining
Measurement genetic association by text-mining
Association gene-phenotype associations by automated GWAS curation
Category disease or phenotype associations
Resource HuGE Navigator
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Last Updated
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  1. 12047 genes
  2. 2752 phenotypes
  3. 141789 gene-phenotype associations

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phenotype Gene Sets

2752 sets of genes associated with phenotypes by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Gene Set Description
Psychopathology
Hemorrhagic Septicemia
Meniere's Disease A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss.
Echogenic Bowel Echogenic bowel is defined as fetal bowel with homogenous areas of echogenicity that are equal to or greater than that of surrounding bone.
Immune Reconstitution Inflammatory Syndrome
Lupus Erythematosus, Systemic A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.
Jaundice Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
Cystadenocarcinoma, Mucinous
Brain Injury, Chronic
Schizophrenia, Catatonic
Cholecystitis, Acute
Thrombophilia OMIM mapping confirmed by DO. [LS].
Hereditary Sensory and Motor Neuropathy
Efficiency
Community-Acquired Infections
Pick Disease of the Brain
Hemoglobin SC Disease OMIM mapping confirmed by DO. [LS].
Choanal Atresia OMIM mapping confirmed by DO. [SN].
Drowning
Dyspepsia
Chordoma A notochordal cancer that derives_from cellular remnants of the notochord.
Mitral Valve Prolapse A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole.
Ovarian Cysts the appearance of fluid-filled sacs within the ovary
Psychiatric Status Rating Scales
Carotid Stenosis
Progeria OMIM mapping confirmed by DO. [SN].
Periapical Granuloma
Anoxia absence or almost complete absence of oxygen from inspired gases, in blood or tissues
Common Variable Immunodeficiency A hypogammaglobulinemia that is results in insufficient production of antibodies needed to respond to exposure of pathogens and is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells. Patients with common variable immunodeficiency have marked reduction in serum levels of both immunoglobulin G (IgG) and immunoglobulin A (IgA); about half of these patients also have reduced immunoglobulin M (IgM).
Neuralgia
Epilepsy, Generalized
Duodenal Neoplasms
Aneurysm, Ruptured
Neoplasms, Squamous Cell
Heart Septal Defects, Ventricular
Paired-Associate Learning
Lymphohistiocytosis, Hemophagocytic
Agoraphobia A phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable.
AIDS-Related Opportunistic Infections
Anemia, Iron-Deficiency
Stomach Diseases
Neoplasms, Second Primary
Adrenal Cortex Neoplasms
Congenital Hypothyroidism A hypothyroidism that is present at birth.
Diabetic Ketoacidosis OMIM mapping confirmed by DO. [SN].
Sturge-Weber Syndrome Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies.
Cocarcinogenesis
Abortion, Missed
Heart Block Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway.
Sex Chromosome Disorders of Sex Development
Congenital Hyperinsulinism
Hyperpigmentation excess of pigment in any or all tissues or a part of a tissue
Hernia, Hiatal
Polyps Discrete abnormal tissue masses that protrude into the lumen of the DIGESTIVE TRACT or the RESPIRATORY TRACT. Polyps can be spheroidal, hemispheroidal, or irregular mound-shaped structures attached to the MUCOUS MEMBRANE of the lumen wall either by a stalk, pedunculus, or by a broad base.|A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations. -- 2004|A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations.
Multiple Trauma
Meningitis Meningitis is a nervous system infectious disease characterized as an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. Meningitis is a diffuse infection caused by a variety of different agents.
Vasculitis A vascular disease that is characterized by inflammation of the blood vessels.
Tuberculosis, Pleural
Child Development Disorders, Pervasive
Helminthiasis A parasitic infectious disease that occurs when part of the body is infested with parasitic worms such as cestodes, nematodes and trematodes.
Arrhythmia Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.
Macular Degeneration A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye; symptoms include vision loss.
Neuromyelitis Optica A central nervous system disease characterized by acute neuritis located_in eye and demyelination located_in optic nerve and located_in spinal cord.
Pulmonary Embolism An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot.
Hypertension, Pulmonary
Bronchopneumonia A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses.
Carotid Artery Diseases
Brain Death
Meconium Aspiration Syndrome
Lentigo
Wet Macular Degeneration A form of RETINAL DEGENERATION in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision.
Mixed Connective Tissue Disease A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen.
Opioid-Related Disorders
Intestinal Neoplasms
Hypertension, Portal
Bronchitis A bronchial disease that is an inflammation of the bronchial tubes. It is caused by bacteria and viruses. The disease has_symptom cough with mucus, has_symptom shortness of breath, has_symptom low fever and has_symptom chest tightness.
Neuromuscular Diseases
Blood Loss, Surgical
Anemia, Refractory, with Excess of Blasts
Myocardial Stunning
Anemia, Aplastic
Extinction, Psychological
Sarcoma, Kaposi
Bile Duct Neoplasms
Congenital Abnormalities
Thrombocytopenia A blood platelet disease characterized by low a platelet count in the blood.
Hyperlipidemia, Familial Combined
Hemorrhagic Disorders
Lymphopenia A leukopenia that is the condition of having an abnormally low level of lymphocytes in the blood.
Anodontia
Neoplasms, Glandular and Epithelial
Cholera A primary bacterial infectious disease that is described as an acute, diarrheal illness caused by infection of the intestine with the bacterium Vibrio cholerae, which is characterized by profuse watery diarrhea, vomiting, leg cramps, circulatory collapse and shock.
Heart Injuries
Prosthesis-Related Infections
Cadaver
Choriocarcinoma
Liver Cirrhosis
Proctitis A rectal disease that involves inflammation of the rectal mucosa, which results from infection, inflammatory bowel disease, or radiation. Sexually transmitted pathogens (Neisseria gonorrhoeae, Chlamydia trachomatis, herpes simplex virus 1 and 2, Treponema pallidum) and enteric pathogens (Campylobacter, Shigella, Salmonella) are involved in the disease. Symptoms are rectal discomfort and bleeding.
Endotoxemia
Respiratory Sounds
West Nile Fever A viral infectious disease that results_in infection, has_material_basis_in West Nile virus, which is transmitted_by Culex and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom body ache, has_symptom nausea, has_symptom maculopapular rash and has_symptom vomiting.
Neoplasms, Radiation-Induced
Anemia, Hemolytic, Congenital Nonspherocytic
Cerebral Hemorrhage, Traumatic
Tibial Fractures
Polycystic Kidney, Autosomal Dominant
Burnout, Professional
Food Hypersensitivity A hypersensitivity reaction type I disease that is an abnormal response to a food, triggered by the body's immune system.
beta-Thalassemia A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin.
Central Serous Chorioretinopathy
Mydriasis Abnormal dilatation of the iris.
Hyperbilirubinemia, Hereditary
Dermoid Cyst
Central Nervous System Vascular Malformations
Cardiomyopathy, Restrictive
Protein Deficiency
Nijmegen Breakage Syndrome OMIM mapping confirmed by DO. [SN].
Nephrosis, Lipoid
Basal Cell Nevus Syndrome OMIM mapping confirmed by DO. [SN].
Nut Hypersensitivity
Arcus Senilis OMIM mapping confirmed by DO. [SN].
Hemangiosarcoma A malignant vascular tumor that results_in rapidly proliferating, extensively infiltrating anaplastic cells derived_from blood vessels and derived_from the lining of irregular blood-filled spaces.
Adenoma, Liver Cell
Thromboembolism The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site.
Multiple Organ Failure
Hirschsprung Disease A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.
Dyskinesia, Drug-Induced
Shy-Drager Syndrome OMIM mapping confirmed by DO. [LS].
Neonatal Abstinence Syndrome A withdrawal disorder that is characterized by a group of problems that occur in a newborn who was exposed to addictive illegal or prescription drugs while in the mother's womb or postnatally following the discontinuance of drug treatment.
Attention
Adenocarcinoma, Mucinous
Thermosensing
Brain Concussion
Virus Diseases
Language Disorders
DNA Damage
Menstruation Disturbances
Optic Neuritis An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision.
Maxillary Diseases
Roseolovirus Infections
Osteogenesis Imperfecta An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue.
Hereditary Motor and Sensory Neuropathies
Retinal Detachment OMIM mapping confirmed by DO. [SN].
Arthropathy, Neurogenic
Monoclonal Gammopathy of Undetermined Significance
Gonorrhea A primary bacterial infectious disease that is a sexually transmitted infection, located_in uterus, located_in fallopian tube, located_in urethra, located_in mouth, located_in throat, located_in eye or located_in anus, has_material_basis_in Neisseria gonorrhoeae, which is transmitted_by contact with the penis, vagina, mouth, or anus or transmitted_by congenitally from mother to baby during delivery. The infection has_symptom burning sensation during urination, has_symptom discharge from the penis, has_symptom increased vaginal discharge, or has_symptom vaginal bleeding between periods.
Pharyngeal Neoplasms
Encephalitis Encephalitis is a nervous system infectious disease characterized as an acute inflammation of the brain. The usual cause is a viral infection, but bacteria can also cause it. Cases can range from mild to severe. For mild cases, you could have flu-like symptoms. Serious cases can cause severe headache, sudden fever, drowsiness, vomiting, confusion and seizures.
Metabolism, Inborn Errors
Bronchial Spasm
Esophageal Achalasia An esophageal disease that is characterized by an inability of the esophagus to move food toward the stomach resulting from the lower esophogeal sphincter not fully relaxing during swallowing.
Motor Skills
Hepatitis D, Chronic
Brugada Syndrome A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death.
Pattern Recognition, Physiological
Mercury Poisoning, Nervous System
Multiple Sclerosis, Chronic Progressive
Aspergillosis, Allergic Bronchopulmonary
Choroiditis
Set
Rheumatic Diseases
Keratoderma, Palmoplantar
DiGeorge Syndrome A T cell deficiency disease that is the result of a large deletion of chromosome 22 which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production.
Cholesterol Ester Storage Disease
Stress Disorders, Traumatic, Acute
Amnesia A cognitive disorder where the memory is disturbed or lost and involves the loss of memories previously established, loss of the ability to create new memories, or loss of the ability to learn new information.
Lymphoma, Large-Cell, Ki-1
Mastocytosis, Systemic
Syncope Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.
Salivary Gland Neoplasms
Paralyses, Familial Periodic
Muscle Hypotonia Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching.
Pharyngitis An upper respiratory tract disease involving inflammation of the throat or pharynx resulting from bacterial, viral, fungal infections or irritants like pollutants or chemical substances and smoking. The infection is often referred to as sore throat. The symptoms include pain during swallowing, enlarged tonsils coated with a white discharge, runny nose, cough and slight fever.
Cleft Lip
Vomiting Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
Anthropology
Superinfection
Coronary Thrombosis
Precancerous Conditions
Burns
Laryngeal Neoplasms
Prognathism Abnormal prominence of the chin related to increased length of the mandible.
Child Behavior Disorders
Hematologic Neoplasms
MELAS Syndrome OMIM mapping confirmed by DO. [SN].
Atrial Fibrillation A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.
Thrombosis formation within a tissue or the vascular lumen of a thrombus, an aggregation of coagulated blood containing platelets, fibrin, and entrapped cellular elements
Cytomegalovirus Infections A Herpesviridae infectious disease that results_in infection in animals and humans, has_agent Cytomegalovirus, which is transmitted_by contact with the infected person's bodily fluids or transmitted_by sexual contact, or transmitted_by blood transfusions.|Infection with CYTOMEGALOVIRUS, characterized by enlarged cells bearing intranuclear inclusions. Infection may be in almost any organ, but the salivary glands are the most common site in children, as are the lungs in adults.
Venous Thrombosis Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow.
Hypokalemia
Leprosy A primary bacterial infectious disease that results_in infection located_in superficial peripheral nerves, located_in skin, located_in mucous membranes of the upper respiratory tract, located_in anterior chamber of the eyes, or located_in testes, has_material_basis_in Mycobacterium leprae, which is transmitted_by aerosol spread from infected nasal secretions to exposed nasal and oral mucosa. The infection has_symptom skin lesions, has_symptom sensory loss, has_symptom motor loss and has_symptom eye damage.
Fissure in Ano
Mycobacterium Infections
Vulvodynia
Salmonella Infections
Pain Perception
Neoplasm Recurrence, Local
Cafe-au-Lait Spots Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.
Amyloid Neuropathies
Mesenteric Vascular Occlusion
Parakeratosis Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes.
Erythema Multiforme A skin disease that is a type of allergic reaction located_in skin, which occurs in response to medications, infections, or illness.
Thymoma A thymus cancer that derives_from epithelial cells located_in the thymus. The tumor cells in a thymoma look similar to the normal cells of the thymus, grow slowly, and rarely spread beyond the thymus.
Scleroderma, Limited
Tuberculosis, Miliary
Leukemia, Hairy Cell
Paraparesis, Tropical Spastic
Wakefulness
Silver-Russell Syndrome OMIM mapping confirmed by DO. [LS].
Movement Disorders
Hyperlipoproteinemias
Laron Syndrome OMIM mapping confirmed by DO. [SN].
Demyelinating Autoimmune Diseases, CNS
Ebstein Anomaly A tricuspid valve disease that is a congenital heart defect in which the septal leaflet of the tricuspid valve is displaced towards the apex of the right ventricle of the heart.
Tobacco Use Disorder
Gingival Pocket
Angiomyolipoma A cell type benign neoplasm that from perivascular epithelioid cells.
Hearing Loss reduced ability to perceive auditory stimuli
Pregnancy Complications, Infectious
Carcinoma A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
Rh Isoimmunization
Gaucher Disease A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver.
Hyperinsulinism
Epilepsy, Frontal Lobe
Chromosome Fragility
Concept Formation
Budd-Chiari Syndrome
Angina Pectoris Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia.
Candidemia
Cardiomyopathy, Hypertrophic, Familial
Eye Hemorrhage bleeding into the eye
Absenteeism
Tangier Disease OMIM mapping confirmed by DO. [LS].
Habituation, Psychophysiologic
Angioneurotic Edema A skin disease characterized by the rapid swelling of the dermis, subcutaneous tissue, mucosa and submucosal tissues.
Language Development Disorders
Pseudohypoaldosteronism
Hemorrhage loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels
Lichenoid Eruptions
Erythema Chronicum Migrans
Hutchinson's Melanotic Freckle
Wegener Granulomatosis An autoimmune disease that is a vasculitis that is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels.
Coffin-Lowry Syndrome OMIM mapping confirmed by DO. [SN].
Hypertrophy, Left Ventricular
Carcinoma, Small Cell
Airway Obstruction
Hypersensitivity An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods.
Hirsutism Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).
Pulmonary Disease, Chronic Obstructive
Schizophrenic Psychology
Acanthosis Nigricans OMIM mapping confirmed by DO. [SN].
Hearing Loss, Central
Persistent Hyperinsulinemia Hypoglycemia of Infancy A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin.
Fever of Unknown Origin Fever in which the etiology cannot be ascertained.
DNA Degradation, Necrotic
Implant Capsular Contracture
Osteoarthritis An arthritis that has_material_basis_in worn out cartilage located_in joint.
Vulvar Vestibulitis
Psychotherapy
Judgment
Postthrombotic Syndrome A venous insufficiency that is characterized by aching pain, heaviness, swelling, cramps, itching, or tingling in the affected limb and is a chronic complication of deep venous thrombosis.
Chronobiology Disorders
Psychomotor Performance The coordination of a sensory or ideational (cognitive) process and a motor activity.
Necrosis
Implosive Therapy
Vasculitis, Leukocytoclastic, Cutaneous
Abdomen, Acute
Avitaminosis A disorder that is caused by the deficiency of a vitamin. The deficiency may result from either suboptimal vitamin intake or conditions that prevent the vitamin's use or absorption in the body. Representative examples include beriberi caused by thiamine deficiency, scurvy caused by vitamin C deficiency, and rickets caused by vitamin D deficiency.
Chorioamnionitis A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection.
Spinocerebellar Ataxias
Latent Tuberculosis
Skin Diseases
Trachoma A commensal bacterial infectious disease that results_in infection located_in eye, has_material_basis_in Chlamydia trachomatis (A, B, Ba and C serovars), which is transmitted_by contact with eye discharge from the infected person and transmitted_by congenital method. The infection causes eyelid to turn inward which makes eyelashes to scratch the cornea.
Rhabdomyolysis Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream.
Dermatitis, Allergic Contact
Trismus Limitation in the ability to open the mouth.
Olfaction Disorders
Dyslexia A reading disorder resulting from a developmental reading disability involving the inability to process graphic symbols resulting in impairment of reading ability.
Pruritus Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.
Pneumonia, Bacterial
Autistic Disorder An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years.
Emphysema
Acute-Phase Reaction
Hyperthyroxinemia
Empyema, Pleural A soft tissue infectious disease that involves accumulation of pus in the pleural cavity as a result of infection within the lung (pneumonia) or a lung abscess spreading into the space. The symptoms include cough, fever, chest pain, sweating and shortness of breath.
Alcoholic Neuropathy
Child Nutrition Disorders
Multiple Endocrine Neoplasia Type 2b An autosomal dominant disease characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus and other skeletal abnormalities.
Multiple Endocrine Neoplasia Type 2a An autosomal dominant disease characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis.
Dupuytren's Contracture
Developmental Disabilities Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed)
Hyperalgesia increased sensitivity to painful stimuli; can be due to inflammatory response or due to damage to soft tissue containing nociceptors or injury to a peripheral nerve; it can be primary (at the site of the injury) or secondary (in the surrounding undamaged area)
Sleep Disorders, Circadian Rhythm
Soft Tissue Neoplasms
Rhinitis, Allergic, Perennial
Eclampsia A pre-eclampsia characterized by the presence of seizures.
Hyperprolactinemia An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood.
Nausea A sensation of unease in the stomach together with an urge to vomit.
Hartnup Disease An amino acid metabolic disorder that iis caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum.
Bronchitis, Chronic
Dementia, Multi-Infarct
Echinococcosis A parasitic helminthiasis infectious disease that involves parasitic infection of humans and domestic animals caused by the larval stages of tapeworms of the genus Echinococcus in the liver, lungs, spleen, brain, heart and kidneys.
Infectious Mononucleosis A viral infectious disease that results_in inflammation, located_in pharynx, has_material_basis_in Human herpesvirus 4 and has_symptom fever, has_symptom fatigue, has_symptom lymphadenopathy, and has_symptom splenomegaly.
Splenomegaly Abnormal increased size of the spleen.
Aneurysm Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart.
Antithrombin III Deficiency An inherited blood coagulation disease characterized by the tendency to form clots in the veins.
Vitamin K Deficiency
Adjustment Disorders
Autoimmune Lymphoproliferative Syndrome A hypersensitivity reaction type IV disease that is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). It is characterized by the production of an abnormally large number of lymphocytes. Accumulation of excess lymphocytes results in enlargement of the lymph nodes, the liver, and the spleen.
HIV-Associated Lipodystrophy Syndrome
Vision
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Synovitis A connective tissue disease that results_in inflammation located_in synovial membrane that lines a synovial joint which causes pain and swelling.
Deficiency Diseases
Cerebral Infarction
Oculocerebrorenal Syndrome OMIM mapping confirmed by DO. [SN].
Scleroderma, Localized
Suppuration
Reactive Attachment Disorder
Ulcer
Elliptocytosis, Hereditary
Dyspnea Difficult or labored breathing.
Spondylitis
Craniosynostoses
Hemangioblastoma
Time and Motion Studies
Skin Abnormalities
Back Pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back.
Carcinoma, Giant Cell
Herpesviridae Infections
Creutzfeldt-Jakob Syndrome
Tachycardia A rapid heartrate that exceeds the range of the normal resting heartrate for age.
Neovascularization, Pathologic
Peroneal Neuropathies
Priapism A peripheral vascular disease characterized by blood trapped in the penis that is unable to drain.
Failure to Thrive Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Neuroaxonal Dystrophies
Intracranial Hypertension
Bardet-Biedl Syndrome An autosomal recessive disease that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases.
Fetal Macrosomia The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age.
Mucocutaneous Lymph Node Syndrome A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels located_in body, has_symptom fever, has_symptom congestion of ocular conjunctivae, has_symptom reddening of lips, has_symptom reddening of oral cavity, has_symptom protuberance of tongue papillae and has_symptom edema of extremities.
Aneuploidy chromosome count is not an exact multiple of the haploid number
Osteoarthritis, Knee
Ascariasis A parasitic helminthiasis infectious disease that involves infection of the intestine with the nematode Ascaris lumbricoides. Larvae migrating through the lungs cause cough, wheezing and hemoptysis. Bowel or biliary obstruction causes cramping abdominal pain, nausea, and vomiting. Peritonitis, enlargement of the liver or spleen, toxicity and pneumonia are observed when larvae get into the portal circulation.
Tremor An unintentional, oscillating to-and-fro muscle movement.
Ovarian Neoplasms
Facial Neoplasms
Schizophrenia, Paranoid
Discrete Subaortic Stenosis
Leukemia, Mast-Cell
Conditioning, Classical
Crigler-Najjar Syndrome A bilirubin metabolic disorder that involves a build up of bilirubin as bilirubin is not being broken down as a result of a lack or deficiency of the enzyme uridine diphosphate glycosyltransferase (UGT).
Mood Disorders
Tinea Versicolor
Alcohol-Related Disorders
Nocturia Abnormally increased production of urine during the night leading to an unusually frequent need to urinate.
Muscular Dystrophies, Limb-Girdle
Infertility, Female
Lipid Metabolism, Inborn Errors
Mental Processes Conceptual functions or thinking in all its forms.
Stomach Ulcer
Hypoplastic Left Heart Syndrome A congenital heart disease characterized by abnormal development of the left-sided structures of the heart.
Albuminuria Increased concentration of albumin in the urine.
Alcohol-Induced Disorders, Nervous System
Sigmoid Neoplasms
Abruptio Placentae A placenta disease that is characterized by separation of the placental lining from the uterus of the mother.
Fibromatosis, Aggressive
Diabetic Cardiomyopathies
Hypercholesterolemia An increased concentration of cholesterol in the blood.
Leukemia-Lymphoma, Adult T-Cell
Paraproteinemias
Giant Cell Tumor of Bone A bone tumor composed of cellular spindle-cell stroma containing scattered multinucleated giant cells resembling osteoclasts.
Paratyphoid Fever A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Salmonella enterica subsp enterica serovar Paratyphi A, B or C, which are transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, has_symptom malaise, has_symptom anorexia, has_symptom constipation, has_symptom rosy spots on the central body, has_symptom non productive cough (in early stage of illness), has_symptom bradycardia, and has_symptom hepatosplenomegaly.
Pseudotumor Cerebri OMIM mapping confirmed by DO. [SN].
Adrenocortical Carcinoma An adrenal cortex cancer that forms in the outer layer of tissue of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
Cholecystolithiasis
Papilloma, Inverted
Hyperemia The presence of an increased amount of blood in a body part or an organ leading to congestion or engorgement of blood vessels. Hyperemia can be due to increase of blood flow into the area (active or arterial), or due to obstruction of outflow of blood from the area (passive or venous).|The presence of an increased amount of blood in a part or organ; engorgement.
Reflex
Alcoholism
Retinal Artery Occlusion
Tricuspid Valve Insufficiency A tricuspid valve disease that is characterized by failure of the heart's tricuspid valve to close properly during systole. As a result, with each heart beat, blood is pumped out from the right side of the heart in the opposite direction to normal.
Embolism, Paradoxical
Addison Disease An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands.
Bronchiolitis A lung disease that is an inflammation of the bronchioles, the smallest air passages of the lungs. It is caused by viruses and bacteria. The disease has_symptom cough, has_symptom wheezing, has_symptom shortness of breath, has_symptom fever, has_symptom nasal flaring in infants and has_symptom bluish skin due to lack of oxygen.
Latex Hypersensitivity
Cough A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.
Cognition Disorders
Trichotillomania An impulse control disorder that involves the uncontrollable plucking of ones hair.
Sneddon Syndrome
Quadriplegia
Parvoviridae Infections
Sclerosis
Albinism An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina).
Neurofibromatosis 1
Neurofibromatosis 2
Chest Pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest.
Barrett Esophagus
Vaginosis, Bacterial
alpha 1-Antitrypsin Deficiency A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells.
Choledocholithiasis
Myotonic Disorders
Lupus Erythematosus, Discoid
Hypersensitivity, Immediate
Laryngeal Diseases
Hemostatic Disorders
Hypertension
Muscle Weakness Reduced strength of muscles.
Hyperglycemia
Fatty Liver The presence of steatosis in the liver.
Intracranial Hemorrhages
Heart Failure, Congestive
Thrombophlebitis A phlebitis that results from a blood clot in the vessel.
Illusions
Pityriasis Rosea
Osteoarthritis, Hip
Yang Deficiency
Pre-Eclampsia A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.
Metabolic Syndrome X OMIM mapping confirmed by DO. [SN].
Data Display
Bacteremia An infection that has as part bacteria located in the blood.
Lung Diseases, Interstitial
Prader-Willi Syndrome OMIM mapping confirmed by DO. [SN].
Endocarditis A endocardium disease characterized by inflammation of the endocardium of the heart chambers and valves.
Wound Infection
Coronary Artery Disease An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.
Hyperparathyroidism, Secondary
Perception
Hyperuricemia An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood.
Brief Psychiatric Rating Scale
Fatty Liver, Alcoholic
Machado-Joseph Disease A spinocerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene.
Infection The state of being infected such as from the introduction of a foreign agent such as serum, vaccine, antigenic substance or organism.
Gait Ataxia A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.
Vestibular Diseases
Wounds, Penetrating
Pemphigoid, Bullous
Overbite Maxillary teeth cover the mandibular teeth when biting to an increased degree.
Scleroderma, Systemic
Peptic Ulcer Hemorrhage
Hand, Foot and Mouth Disease A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human coxsackievirus A16 or has_material_basis_in Human enterovirus 71, which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet.
Corneal Ulcer
LEOPARD Syndrome OMIM mapping confirmed by DO. [SN].
Kidney Diseases
Mandibular Diseases
Odontogenic Tumors
Gingival Hyperplasia
Hydrophthalmos
Parkinson Disease A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.
Papillon-Lefevre Disease OMIM mapping confirmed by DO. [SN].
Neoplasms, Cystic, Mucinous, and Serous
Directive Counseling
IgA Deficiency A B cell deficiency that is an autosomal recessive disorder caused by mutation in the IgA (CD79 alpha) antigen receptor.
Schizophrenia A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.
Hypercalcemia
Germinoma A germ cell cancer that lacks histologic differentiation. It usually refers to a tumor in the brain.
Arousal
Water-Electrolyte Imbalance
Myoclonic Epilepsies, Progressive
Epidermal Cyst a benign mass derived from the epidermis or the epithelium of a hair follicle, formed by enclosure of epithelium within the dermis and filled with keratin and lipid-rich inclusions
Moyamoya Disease A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots.
Hypoxia, Brain
Hypersomnolence, Idiopathic
Gilbert Disease
Hyperglycinemia, Nonketotic
Pyoderma Gangrenosum
Ventricular Premature Complexes
Iron Metabolism Disorders
Lichen Planus A lichen disease that is located_in skin, located_in tongue or located_in oral mucosa, which presents itself in the form of papules, lesions or rashes. The cause is not known.
Myocardial Reperfusion Injury
Foot Dermatoses
Paraplegia
Blastocystis Infections
Spasms, Infantile
Kaposi Varicelliform Eruption
Pregnancy Complications, Hematologic
Exophthalmos An eye disease that is characterized by a bulging of the eye anteriorly out of the orbit.
Abortion, Spontaneous
Genital Neoplasms, Male
Proteus Syndrome OMIM mapping confirmed by DO. [SN].
Hypophosphatasia OMIM mapping confirmed by DO. [SN].
Femoral Neck Fractures
Iridocyclitis
AIDS Dementia Complex A HIV encephalopathy and is_a brain disease that results_in infection in adults located_in brain, has_agent Human immunodeficiency virus 1 or has_agent Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems.|A brain disease and is_a HIV encephalopathy that results_in infection in adults located_in brain, has_agent Human immunodeficiency virus 1 or has_agent Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems.
Olivopontocerebellar Atrophies
Multiple Myeloma A myeloma that is located_in the plasma cells in bone marrow.
Polycystic Ovary Syndrome OMIM mapping confirmed by DO. [SN].
Muscular Disorders, Atrophic
Appendiceal Neoplasms
Heart Aneurysm
Epstein-Barr Virus Infections Infection with human herpesvirus 4 (HERPESVIRUS 4, HUMAN); which may facilitate the development of various lymphoproliferative disorders. These include BURKITT LYMPHOMA (African type), INFECTIOUS MONONUCLEOSIS, and oral hairy leukoplakia (LEUKOPLAKIA, HAIRY).|A Herpesviridae infectious disease that results_in infection, has_agent Human herpesvirus 4, which is transmitted_by contact with the saliva.
Microsatellite Instability
Tauopathies
Leukoplakia, Oral
Croup A respiratory system infectious disease that involves inflammation, edema, and subsequent obstruction of the larynx, trachea, and bronchi. The disease is caused by viruses, bacteria, allergies and inhaled irritants. It is marked by episodes of difficult breathing and hoarse metallic cough in infants and young children. Croup is caused by parainfluenza virus (types 1 and 2), Influenza A and B viruses, Measles virus, adenovirus, respiratory syncytial virus, Staphylococcus and Streptococcus.
Pulmonary Aspergillosis
Head and Neck Neoplasms Soft tissue tumors or cancer arising from the mucosal surfaces of the LIP; oral cavity; PHARYNX; LARYNX; and cervical esophagus. Other sites included are the NOSE and PARANASAL SINUSES; SALIVARY GLANDS; THYROID GLAND and PARATHYROID GLANDS; and MELANOMA and non-melanoma skin cancers of the head and neck. (from Holland et al., Cancer Medicine, 4th ed, p1651)
Hyperbilirubinemia An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism.
Tooth Abnormalities
Infant, Newborn, Diseases
Periodontal Diseases
Lecithin Acyltransferase Deficiency OMIM mapping confirmed by DO. [SN].
Vitreoretinopathy, Proliferative
Neurilemmoma
Neurocysticercosis A taeniasis that results from ingestion of eggs or larvae of the Taenia solium tapeworm in undercooked pork or fecally contaminated food or water, which subsequently infect the central nervous system, heart, muscles, subcutaneous tissues, and eyes. Neurocysticercosis causes seizures, mental disturbances, focal neurologic deficits and intracerebral lesions.
Behavior Control
Aspergillosis An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney,heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system.
Thyroiditis, Subacute
Neoplasms, Basal Cell
Hypophosphatemia
Primary Myelofibrosis A myeloma that is located_in the bone marrow which results_in bone marrow being replaced by fibrous (scar) tissue.
Leg Dermatoses
Vitiligo A hypersensitivity reaction type II disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes.
Simian Acquired Immunodeficiency Syndrome
Philadelphia Chromosome
Fractures, Ununited
Cystitis, Interstitial
Primary Ovarian Insufficiency An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40.
Williams Syndrome
Gingival Hypertrophy
Epidermolysis Bullosa Simplex
Jaundice, Neonatal
Pyelonephritis
Dental Enamel Hypoplasia
Stress, Psychological
Jaw, Edentulous
Rheumatic Heart Disease A heart valve disease that is characterized by repeated inflammation with fibrinous repair. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords.It is caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage.
Vascular Malformations
Malaria, Cerebral
Conjunctival Neoplasms
Pleural Neoplasms
Hip Dislocation Displacement of the femur from its normal location in the hip joint.
Uterine Diseases
Osteoporosis A bone resorption disease that has_material_basis_in a drop in estrogen or testosterone which results_in the thinning of bone tissue and loss of bone mineral density.
Hypoxia-Ischemia, Brain
Anxiety Disorders
Acidosis, Lactic
Glossitis, Benign Migratory
Pregnancy Complications, Parasitic
Myopathies, Nemaline
Tongue, Fissured OMIM mapping confirmed by DO. [SN].
Environmental Illness A syndrome that is an adverse physical reaction to low levels of many common chemicals.
Problem Solving
Smell
Arteritis Arterial inflammation.
Torticollis
Klippel-Trenaunay-Weber Syndrome A rare congenital syndrome characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues.
Migraine without Aura A migraine that is characterized by migraine headaches that are not accompanied by an aura.
Field Dependence-Independence
Hyperplasia An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement.|An abnormal increase in the number of (otherwise normal) cells in an organ or a tissue with consequent enlargement.
Hypoventilation A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide).
Genetics, Behavioral
Tay-Sachs Disease OMIM mapping confirmed by DO. [SN].
Abortion, Habitual
Respiratory Tract Neoplasms
Gallstones Solid crystalline precipitates in the BILIARY TRACT, usually formed in the GALLBLADDER, resulting in the condition of CHOLELITHIASIS. Gallstones, derived from the BILE, consist mainly of calcium, cholesterol, or bilirubin.
Acrocephalosyndactylia A synostosis that results_in craniosynostosis and syndactyly.
Infant, Premature, Diseases
Endolymphatic Hydrops
Keratoacanthoma
Tuberculosis, Lymph Node
Otitis Media A otitis which involves inflammation of the middle ear.
Leukemia, Prolymphocytic
Hearing
Pseudomyxoma Peritonei An appendix cancer that is characterized by progressive accumulation of mucus-secreting tumor cells within the abdomen and pelvis.
Ventricular Dysfunction
Pelvic Organ Prolapse Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines.
Hyponatremia An abnormally decreased sodium concentration in the blood.
Gonadal Dysgenesis A hypogonadism that is characterized by a progressive loss of germ cells on the developing gonads of an embryo.
Neurotoxicity Syndromes
Intracranial Arterial Diseases
Phobic Disorders
Dental Pulp Diseases
Fragile X Syndrome A neurodegenerative disease that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in a loss of FMR1 function.
Gingival Recession
Spina Bifida Occulta The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin.
Nasal Obstruction Reduced ability to pass air through the nasal cavity often leading to mouth breathing.
Plasmacytoma
Trichomonas Infections
Leukemia, Myeloid, Chronic
Bites and Stings
Oral Submucous Fibrosis
Hyperhidrosis Abnormal excessive perspiration (sweating).
Drug Hypersensitivity
Premature Birth The birth of a baby of less than 37 weeks of gestational age.
Behcet Syndrome A vasculitis that is characterized by an autoimmune mediated inflammation of the blood vessels throughout the body leading to ulcerations on the mouth and sometimes the genitals, notorious for causing hypopyon uveitis.
Measles A viral infectious disease that results_in infection located_in skin, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom fever, has_symptom cough, has_symptom coryza, has_symptom conjunctivitis, and has_symptom maculopapular, erythematous rash.
Polyarteritis Nodosa
Somatoform Disorders
Q-Sort
Heart Valve Diseases
Graves Ophthalmopathy
Pain Threshold
Birth Weight The mass or quantity of heaviness of an individual at BIRTH. It is expressed by units of pounds or kilograms.
Sleep Deprivation
Influenza, Human
Bernard-Soulier Syndrome OMIM mapping confirmed by DO. [SN].
Fibromatosis, Abdominal
Pulmonary Valve Stenosis
Folic Acid Deficiency
Telangiectasis
Endocardial Cushion Defects
Lymphoma, Large-Cell, Diffuse
Association Learning
46, XY Disorders of Sex Development
Coronary Aneurysm
Dermatitis, Contact
Retinal Dystrophies
Sleep Arousal Disorders
Refractive Errors
Lymphoma, B-Cell
Myelofibrosis A myeloma that is located_in the bone marrow which results_in bone marrow being replaced by fibrous (scar) tissue.
Dog Diseases
Carcinoma, Ductal, Breast
Multiple Sclerosis, Relapsing-Remitting
Vitamin B 12 Deficiency A vitamin metabolic disorder that results from low blood levels of vitamin B12.
Hot Flashes
Diabetic Nephropathies
Embolism, Cholesterol
Thyroid Neoplasms
Cholesteatoma
Liver Cirrhosis, Alcoholic
Dysmenorrhea Pain during menstruation that interferes with daily activities.
Hypothyroidism A thyroid gland disease which involves an underproduction of thyroid hormone.
Ocular Hypertension
Aging, Premature
Graves Disease An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.
Hematuria The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).
Pancreatitis, Alcoholic
Verbal Learning
Alopecia A hypotrichosis that is characterized by a loss of hair from the head or body.
Aortic Aneurysm, Thoracic
Pancreatic Cyst A cyst of the pancreas that possess a lining of mucous epithelium.
Arthritis A bone inflammation disease that involves a response to irritation or injury, characterized by joint pain, swelling, stiffness located_in joint and/or redness located_in skin over the joint.
Urinary Calculi caliculi, or a solid concretion or crystal aggregation, found in the urinary bladder; often embedded in a glycoprotein matrix which may also contain some nonglycoproteins when associated with infection
Shoulder Dislocation A displacement or misalignment of the humerus with respect to the other bones of the should joint. Note that a subluxation is a partial dislocation.
Reflex Sympathetic Dystrophy OMIM mapping confirmed by DO. [SN].
Radiation Injuries
Spinal Dysraphism OMIM mapping confirmed by DO. [LS].
Carotid Artery Thrombosis
Reflex, Abnormal
Lymphoma A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs.
Septo-Optic Dysplasia Underdevelopment of the optic nerve and absence of the septum pellucidum.
Mycetoma
Kidney Failure A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood.
Ductus Arteriosus, Patent
Postoperative Nausea and Vomiting Emesis and queasiness occurring after anesthesia.
Pain, Postoperative
Dengue Hemorrhagic Fever A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever.
Gastrointestinal Stromal Tumors
Hepatic Veno-Occlusive Disease
Plaque, Atherosclerotic
Cystadenoma, Serous
Ameloblastoma A cell type benign neoplasm that has_material_basis_in odontogenic epithelium.
Pleural Diseases
Maxillary Neoplasms
Bone Diseases, Metabolic
Low Back Pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back.
Hemorrhagic Fever, Ebola
Osteosarcoma A bone cancer that is located_in bone that has_material_basis_in cells of mesenchymal origin.
Dental Plaque
Skin Ulcer A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.
Hantavirus Pulmonary Syndrome A viral infectious disease that results_in infection located_in lung, has_material_basis_in Sin Nombre virus, transmitted_by deer mouse (Myodes glareolus), has_material_basis_in Black Creek Canal virus, transmitted_by cotton rat (Sigmodon hispidus), has_material_basis_in Bayou virus, transmitted_by marsh rice rat (Oryzomys palustris), has_material_basis_in Laguna Negra virus, transmitted_by small vesper mouse (Calomys laucha), or has_material_basis_in Andes virus, transmitted_by rice rat (Oligoryzomys longicaudatus). The infection has_symptom fever, has_symptom muscle pain, has_symptom headache, has_symptom cough, has_symptom vomiting, has_symptom chills which rapidly progress to bilateral interstitial pulmonary infiltrates occurrence, pulmonary edema and hypoxia often resulting in death from shock or cardiac complications.
Brain Edema
Abdominal Neoplasms
Nervous System Neoplasms
Hypotension, Orthostatic
Pain Insensitivity, Congenital
Coxsackievirus Infections
Tourette Syndrome A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year.
Anophthalmos
Urogenital Neoplasms Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female.
Fanconi Anemia A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair.
Anemia, Pernicious OMIM mapping confirmed by DO. [SN].
Endocarditis, Bacterial
Bronchopulmonary Dysplasia Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of respiratory distress syndrome in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring.
Wolff-Parkinson-White Syndrome A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway.
Chromosome Inversion
Femoral Fractures
Anemia, Hemolytic
Landau-Kleffner Syndrome OMIM mapping confirmed by DO. [SN].
Anemia, Hemolytic, Congenital
Olfactory Perception
Triploidy
Osteoma Osteomas are bony growths found most commonly on the skull and mandible; however, they may occur in any bone of the body. Osteomas do not usually cause clinical problems and do not become malignant.
Sleep Apnea, Obstructive
Hemoglobin C Disease
Hyperphagia A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat.
Mental Disorders
Optic Atrophies, Hereditary
Hypotension Low Blood Pressure, vascular hypotension.
Respiratory Tract Infections
Arthralgia Joint pain.
Post-Concussion Syndrome
Neoplasms, Gonadal Tissue
Glycogen Storage Disease Type II A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome.
Skin Diseases, Genetic
Pulmonary Emphysema
Occupational Diseases
Cell Transformation, Viral
Mental Competency
Adenoma, Chromophobe
Eyelid Diseases
Sleep Apnea Syndromes
Affective Disorders, Psychotic
Astrocytoma A malignant glioma that is has_material_basis_in astocyte cells, a type of star-shaped glial cell, located_in the cerebrum.
Skin Diseases, Viral
Ectodermal Dysplasia Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands.
Flaviviridae Infections
Leukemia, Lymphocytic, Acute
Biliary Atresia A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder.
Paranoid Disorders
Touch Perception
Catastrophic Illness
Lactose Intolerance OMIM mapping confirmed by DO. [SN].
Muscle Neoplasms
Nutrition Disorders
Tooth Loss
Prenatal Exposure Delayed Effects
Learning Disorders
Tympanic Membrane Perforation
Thinness
Neuroacanthocytosis
Mucopolysaccharidosis I A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase.
Diabetes Mellitus, Lipoatrophic
Clubfoot OMIM mapping confirmed by DO. [SN].
Tonsillar Neoplasms
Menorrhagia Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.
Ventricular Fibrillation Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations.
Hyperlipoproteinemia Type I
Mental Health Services
Neurodegenerative Diseases
Myxedema OMIM mapping confirmed by DO. [SN].
Introversion
Rectal Prolapse
Impotence
Yin Deficiency
Schistosomiasis A parasitic helminthiasis infectious disease that involves infection of the intestine, urinary tract, skin, liver and spleen caused by multiple species of the trematode fluke of the genus Schistosoma. The symptoms include fever, chills, nausea, abdominal pain, diarrhea, malaise, myalgia, liver and spleen enlargement, rash and hematuria.
Carcinoma in Situ
Startle Reaction
Giant Cell Arteritis OMIM mapping confirmed by DO. [LS].
Osteopetrosis An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones.
Rhabdomyosarcoma, Alveolar
Celiac Disease An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite.
Intestinal Fistula An abnormal connection between the gut and another hollow organ, such as the bladder, urethra, vagina, or other regions of the gastrointestinal tract.
Tuberculosis, Meningeal
Lymphoma, T-Cell, Cutaneous
Hypertrophy, Right Ventricular
Ectopia Lentis Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation.
Opisthorchiasis A parasitic helminthiasis infectious disease that involves parasitic infection of the liver, pancreas and gall bladder by Opisthorchis viverrini or Opisthorchis felineus. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and chlolangiocarcinoma.
Apraxias
Genetic Predisposition to Disease
Asphyxia Neonatorum
Mucopolysaccharidosis II A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase.
Arthritis, Experimental
Dysthymic Disorder A mood disorder that involves the presence of a low mood almost daily over a span of at least two years.
Wechsler Scales
Adrenal Hyperplasia, Congenital
Genital Neoplasms, Female
Spondylitis, Ankylosing
Angina Pectoris, Variant
Kidney Failure, Acute
Hydrops Fetalis The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.
Vasculitis, Allergic Cutaneous
Exanthema
Lung Diseases, Obstructive
Sebaceous Gland Neoplasms
Mastocytosis, Cutaneous
Pheochromocytoma Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines.
Acidosis, Renal Tubular
Pancytopenia
Agranulocytosis
Memory, Long-Term
Varicocele
Loudness Perception
von Willebrand Disease A coagulation protein disease that is a hereditary abnormality which slows the blood clotting process. It arises from a qualitative or quantitative deficiency of von Willebrand factor (vWF), a multimeric protein that is required for platelet adhesion.
Coronary Disease An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.
Frontotemporal Lobar Degeneration A basal ganglia disease characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language.
Fatigue Syndrome, Chronic
Neoplasms, Experimental
Pulmonary Blastoma An embryoma and malignant neoplasm of lung that derives_from tissues of the lung and derives_from pleura (a thin layer of tissue that covers the lungs and lines the interior wall of the chest cavity). It is most commonly effects children.
Brain Infarction
Cardiomyopathy, Alcoholic
Lafora Disease OMIM mapping confirmed by DO. [SN].
Hypesthesia
Alcoholic Intoxication
Osteoradionecrosis
Resilience, Psychological
Pemphigus
Parkinson Disease, Secondary
Intervertebral Disk Displacement
Polyradiculoneuropathy, Chronic Inflammatory Demyelinating
Ischemic Attack, Transient
Agammaglobulinemia A B cell deficiency that is caused by a reduction in all types of gamma globulins.
Cardiac Output, Low
Carcinosarcoma A mixed cell type cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components.
Adenoma, Oxyphilic
Epilepsy A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.
Growth Disorders
Mucolipidoses
Mitochondrial Diseases
Inappropriate ADH Syndrome
Labor Pain
Mucopolysaccharidosis VII A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans.
Bone Diseases, Developmental
Gallbladder Diseases
Herpes Genitalis A herpes simplex that results_in infection located_in genital system, or located_in rectum, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which is transmitted_by sexual contact. The infection has_symptom sores, has_symptom fever, and has_symptom swollen glands.
Wolman Disease
Postoperative Complications
Heroin Dependence An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.
Multicystic Dysplastic Kidney Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvocaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional.
Mutism A speech disorder that involves a complete inability to speak.
Diabetic Angiopathies
Reaction Time
Intracranial Arteriosclerosis
Anemia, Diamond-Blackfan
Nephrocalcinosis
Hepatic Encephalopathy
Exostoses, Multiple Hereditary
Facial Paralysis
Cholestasis, Intrahepatic
Cardiomegaly Increased size of the heart.
Renal Insufficiency, Acute
Myelodysplastic Syndromes
Tracheoesophageal Fistula An abnormal connection (fistula) between the esophagus and the trachea.
Dyskeratosis Congenita A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer.
Stress Disorders, Post-Traumatic
Intracranial Thrombosis
Brain Stem Neoplasms
Liver Abscess The presence of an abscess of the liver.
Eye Diseases
Immunoblastic Lymphadenopathy
Optic Nerve Glioma
Enteritis
Malignant Hyperthermia A genetic disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature.
Retinal Diseases
Seizures, Febrile
Signal Detection, Psychological
Nevus, Pigmented
Vision Disorders
Osteochondrodysplasias
Abnormalities, Multiple
Condylomata Acuminata
Lymphadenitis
Neurotic Disorders
Aortic Aneurysm, Abdominal
Keratoconjunctivitis
Pleurisy A pleural disease that is characterized by inflammation of the pleura, the lining of the pleural cavity surrounding the lungs.
Alveolitis, Extrinsic Allergic
Syndactyly A synostosis that results_in the fusion of two or more digits.
Clonorchiasis A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Clonorchis sinensis. The symptoms include abdominal pain, nausea, diarrhea, and eosinophilia. In long-standing infections, cholangitis, cholelithiasis, pancreatitis, and cholangiocarcinoma can develop.
Sarcoidosis A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.
Bulbar Palsy, Progressive
MERRF Syndrome OMIM mapping confirmed by DO. [SN].
Muscular Dystrophy, Emery-Dreifuss
Hamartoma Syndrome, Multiple
Neoplasms, Nerve Tissue
Pulmonary Eosinophilia
Personality Tests
Polycystic Kidney, Autosomal Recessive
Fish Diseases
Toxoplasmosis A coccidiosis that has_material_basis_in protozoan Toxoplasma gondii. The parasite effects most genera of warm-blooded animals, including humans, but the primary host is the felid (cat) family. Animals are infected by eating infected meat, by ingestion of feces of a cat that has itself recently been infected, or transmission_by mother to fetus. The symptoms include bilateral, nontender cervical or axillary lymphadenopathy, fever, malaise, myalgia, hepatosplenomegaly, anemia and leukopenia.
Encephalomyelitis, Autoimmune, Experimental An experimental animal model for central nervous system demyelinating disease. Inoculation with a white matter emulsion combined with FREUND'S ADJUVANT, myelin basic protein, or purified central myelin triggers a T cell-mediated immune response directed towards central myelin. The pathologic features are similar to MULTIPLE SCLEROSIS, including perivascular and periventricular foci of inflammation and demyelination. Subpial demyelination underlying meningeal infiltrations also occurs, which is also a feature of ENCEPHALOMYELITIS, ACUTE DISSEMINATED. Passive immunization with T-cells from an afflicted animal to a normal animal also induces this condition. (From Immunol Res 1998;17(1-2):217-27; Raine CS, Textbook of Neuropathology, 2nd ed, p604-5)
Epilepsy, Reflex
Helicobacter Infections
Streptococcal Infections
Vasculitis, Central Nervous System
Giant Cell Tumors
Familial Mediterranean Fever A hypersensitivity reaction type II disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; caused by mutations in the MEFV gene, which encodes the protein pyrin.
Dystonia Musculorum Deformans A dystonia that affects most or all of the body.
Supranuclear Palsy, Progressive
Porphyria Cutanea Tarda An acute porphyria characterized by painful, blistering skin lesions that develop on sun-exposed skin.
Emergencies
Dental Fistula
Cystadenocarcinoma, Serous
Tooth Diseases
Syncope, Vasovagal
Respiration Disorders
Nocturnal Myoclonus Syndrome
Heart Rupture
Mesopic Vision
Task Performance and Analysis
Head Injuries, Penetrating
Dysgeusia
Ehlers-Danlos Syndrome A collagen disease and a monogenic disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules.
Cell Transformation, Neoplastic
Tumor Virus Infections Infection with human herpesvirus 4 (HERPESVIRUS 4, HUMAN); which may facilitate the development of various lymphoproliferative disorders. These include BURKITT LYMPHOMA (African type), INFECTIOUS MONONUCLEOSIS, and oral hairy leukoplakia (LEUKOPLAKIA, HAIRY).|A Herpesviridae infectious disease that results_in infection, has_agent Human herpesvirus 4, which is transmitted_by contact with the saliva.
Renal Artery Obstruction
Pancreatic Neoplasms
Hypophosphatemic Rickets, X-Linked Dominant A metal metabolism disorder that results from the inactivation of hormone-like substances (phosphatonins) that promote phosphate excretion which has_material_basis_in a X-linked mutation in the PHEX gene.
Brain Neoplasms
Bulimia Nervosa An eating disorder characterized by the restraining of food intake for a period of time followed by an over intake or binging period that results in feelings of guilt and low self-esteem.
Keratitis
Focal Epithelial Hyperplasia A viral infectious disease that results_in infection located_in mouth, has_material_basis_in human papillomavirus (types 13 or 32), has_symptom papules or nodules in the oral cavity.
Arthritis, Infectious
Anthrax
Acute Disease
Urogenital Abnormalities The presence of any abnormality of the genitourinary system.
Ichthyosiform Erythroderma, Congenital
Radiation Pneumonitis
Candidiasis, Vulvovaginal
Urologic Neoplasms
Neoplasm Metastasis
Taste Disorders
Bone Marrow Neoplasms
Dyskinesias
Ischemia A vascular disease that is characterized by a restriction in blood supply to tissues.
Pituitary ACTH Hypersecretion
Malaria A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle.
Ileus
Urticaria Pigmentosa OMIM mapping confirmed by DO. [LS].
Granuloma
Chagas Disease A trypanosomiasis that is a tropical parasitic disease caused by the flagellate protozoan Trypanosoma cruzi, which is transmitted to humans and other mammals by an insect vector, the blood-sucking assassin bugs of the subfamily Triatominae (family Reduviidae), most commonly species belonging to the Triatoma, Rhodnius, and Panstrongylus genera. The symptoms include fever, fatigue, body aches, headache, rash, loss of appetite, diarrhea, vomiting, swelling of the eyelids and myocarditis.
Plague A primary bacterial infectious disease that results_in infection, located_in lymph node, located_in vasculature or located_in lungs, has_material_basis_in Yersinia pestis, which is transmitted_by oriental rat flea (Xenopsylla cheopis) infected by feeding on rodents and other mammals, transmitted_by air, transmitted_by direct contact or transmitted_by ingestion of contaminated undercooked food.
Sex Chromosome Aberrations
Weight Gain
Sotos Syndrome An autosomal recessive disease that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life.
Chromosome Deletion
Inversion, Chromosome
Multiple Endocrine Neoplasia Type 1 An autosomal dominant disease that has_material_basis_in a mutation in the MEN1 tumor suppressor gene and is characterized by over active endocrine glands frequently involving tumors of the parathyroid glands, the pituitary gland, and the pancreas.
Hearing Disorders
Angioedemas, Hereditary
Leiomyoma A cell type benign neoplasm that is a benign tumor of smooth muscle cells.
Uncertainty
Nasopharyngitis A nasopharyngeal disease which involves inflammation of the nasal passages and upper part of the pharynx.
Bronchopulmonary Sequestration The presence of microscopic cystic masses of nonfunctioning pulmonary tissue that lack an obvious communication with the tracheobronchial tree.
Seminoma A germinoma that has_material_basis_in cells that make sperm and eggs.
Hematologic Diseases
Albinism, Oculocutaneous
Cytomegalovirus Retinitis
Tuberous Sclerosis OMIM mapping confirmed by DO. [LS].
Paraparesis, Spastic
Intuition Knowing or understanding without conscious use of reasoning. (Thesaurus of ERIC Descriptors, 1994)
Psychotherapy, Brief
Focal Nodular Hyperplasia
Transfer
Postmortem Changes
Anti-Glomerular Basement Membrane Disease A hypersensitivity reaction type II disease that is characterized by glomerulonephritis located_in kidney and hemorrhaging located_in lung.
Citrullinemia An urea cycle disorder that involves the accumulation of ammonia in the blood.
Mouth Diseases
Postural Orthostatic Tachycardia Syndrome
Touch
Adenofibroma A cell type benign neoplasm that is composed_of glandular and fibrous tissues, with a relatively large proportion of glands.
Thymus Neoplasms
Smallpox A viral infectious disease that results_in infection located_in skin, has_material_basis_in Variola virus, which is transmitted_by droplets from oral, nasal or pharyngeal mucosa, transmitted_by contact with the body fluids, or transmitted_by fomites. The infection results_in_formation_of lesions, first on the face, hands and forearms and later on the trunk.
Infarction, Middle Cerebral Artery
Religion and Psychology
Fabry Disease OMIM mapping confirmed by DO. [SN].
Encephalitis, Japanese
Calculi
Rhabdomyosarcoma, Embryonal
Myoclonus Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
Sleep Apnea, Central
Periapical Diseases
Aortitis
Prosthesis Failure
Hepatitis B, Chronic
Cysts
Hypercalciuria
Atherosclerosis
Cross Infection
Hepatomegaly Abnormally increased size of the liver.
Aphasia A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language.
Conjunctivitis, Allergic
Atrophy
De Lange Syndrome A genetic disease that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features.
Inhibition
Voice Disorders
Candidiasis, Oral
Nail Diseases
Scoliosis A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine.
Neurofibroma, Plexiform
Amenorrhea
Smoke Inhalation Injury
Kuru
Mycobacterium Infections, Atypical
Bone Marrow Diseases
Hernia, Umbilical
Sacroiliitis
Ovarian Diseases
Choline Deficiency
Sensation
Neoplasm Circulating Cells
Lymphoma, AIDS-Related
Meningitis, Cryptococcal
Kearns-Sayer Syndrome
Rheumatoid Nodule
Dermatomyositis A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. The disease may result from either a viral infection or an autoimmune reaction.
Urea Cycle Disorders, Inborn
Joint Instability
Coagulation Protein Disorders
Eye Neoplasms
Leukemia, Myelomonocytic, Acute
Paraganglioma, Extra-Adrenal
Lymphoma, Mucosa-Associated Lymphoid Tissue
Cartilage Diseases
Paraneoplastic Syndromes, Nervous System
Esophagitis
Postpoliomyelitis Syndrome A poliomyelitis that results_in atrophy located_in muscle, many years after the initial infection, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3. It is characterized by new weakening in muscles that were previously affected by the polio infection and in muscles that were unaffected. The infection has_symptom muscle weakness, has_symptom muscle pain, has_symptom sleep apnea, and has_symptom breathing problems.
Leukemia, Erythroblastic, Acute
Usher Syndromes
Pseudohypoparathyroidism OMIM mapping confirmed by DO. [SN].
Epidermodysplasia Verruciformis An autosomal recessive disease that results_in skin squamous cell carcinoma located_in skin, associated with a high risk of carcinoma. It is characterized by abnormal susceptibility to human papillomaviruses of the skin and has_symptom lesions on the body.
Nerve Sheath Neoplasms
Depression, Postpartum
Cystitis
Coronary Restenosis
Posterior Tibial Tendon Dysfunction
Legionnaires' Disease A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough.
Glucose Intolerance
Conditioning
Jaw Neoplasms
Neoplasms, Unknown Primary
Electroconvulsive Therapy
Bloom Syndrome OMIM mapping confirmed by DO. [SN].
Microvascular Angina
Colitis, Ischemic
Preleukemia
Dyslipidemias
Temporomandibular Joint Disorders
Pericarditis A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain.
Marijuana Abuse A substance abuse that involves the recurring use of cannabis despite negative consequences.
Porphyria, Acute Intermittent
Genu Valgum The legs angle inward, such that the knees are close together and the ankles far apart.
Mandibular Neoplasms
Leukocytosis An abnormal increase in the number of leukocytes in the blood.
Photosensitivity Disorders
Angina, Unstable
Enterocolitis An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine).
Alcohol-Induced Disorders
Vitamin A Deficiency
Somnambulism
Serial Learning
Renal Tubular Transport, Inborn Errors
Diabetes Complications
Cholestasis
Postoperative Hemorrhage
Encephalitis, Viral An encephalitis that involves inflammation of the brain caused by viral infection.
Psychiatry
Vulvar Neoplasms
Conduct Disorder A specific developmental disorder marked by a pattern of repetitive behavior wherein the rights of others or social norms are violated.
Hearing Loss, Unilateral
Long QT Syndrome An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles).
Diabetes, Gestational
CADASIL
Miosis Abnormal (non-physiological) constriction of the pupil.
Tooth Demineralization
Coloboma An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc.
Personality Assessment
Endophthalmitis A globe disease that is characterized by inflammation of the inside of the eye.
Cocaine-Related Disorders
Persistent Fetal Circulation Syndrome OMIM mapping confirmed by DO. [SN].
Mycoses
Anticipation, Genetic
Communicable Diseases
Retinal Degeneration
Myocarditis An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle.
Thalassemia OMIM mapping confirmed by DO. [LS].
Vulvovaginitis
Hyperkinesis Motor hyperactivity with excessive movement of muscles of the body as a whole.
Adenoma, Pleomorphic
Neoplasms, Germ Cell and Embryonal
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Kidney Failure, Chronic
Myeloproliferative Disorders
Puberty, Precocious
Pancreatitis, Chronic
Jervell-Lange Nielsen Syndrome OMIM mapping confirmed by DO. [SN].
Fractures, Spontaneous
Disorders of Excessive Somnolence
Carcinoid Tumor A tumor formed from the endocrine (argentaffin) cells of the mucosal lining of a variety of organs including the stomach and intestine. These cells are from neuroectodermal origin.
Sarcoma A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from embryonic mesoderm.
Retinal Vein Occlusion
Epistaxis Epistaxis, or nosebleed, refers to a hemorrhage localized in thenose.
Leukoencephalopathies
Papilloma, Choroid Plexus
Eyelid Neoplasms
Anemia, Megaloblastic
Urinary Incontinence, Stress
Lung Neoplasms
Purine-Pyrimidine Metabolism, Inborn Errors
Hypersensitivity, Delayed
Hemosiderosis An iron metabolism disease that has_material_basis_in an accumulation of hemosiderin, an iron-storage complex, resulting in iron overload.
Tinnitus Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.
Purpura, Thrombocytopenic, Idiopathic
Bowen's Disease
Hodgkin Disease A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell.
Carcinoma, Non-Small-Cell Lung
Overdose
Spondylosis An bone structure disease that involves degeneration between vertebra located_in vertebral column.
Behavior Therapy
Wounds and Injuries
Rare Diseases
Thymus Hyperplasia Enlargement of the thymus.
Intestinal Obstruction
Vaginal Diseases
Genetic Determinism
Cryptorchidism OMIM mapping confirmed by DO. [SN].
Lymphatic Diseases
Hyperlipoproteinemia Type III
Drug-Induced Liver Injury A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to ACUTE LIVER FAILURE, caused by drugs, drug metabolites, and chemicals from the environment.
Churg-Strauss Syndrome A vasculitits that is systemic vasculitis realized as blood vessel inflammation and has_symptom asthma along with hay fever, rash and gastrointestinal bleeding.
Leukemia, Nonlymphocytic, Acute
Forearm Injuries
Gastritis A stomach disease that is an inflammation of the lining of the stomach.
Substance-Related Disorders
Asthma, Aspirin-Induced
Basal Ganglia Diseases
Chlamydia Infections
Rhinitis A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip.
Anemia, Sickle Cell
Gardner Syndrome Gardner syndrome (GS) is a severe form of familial adenomatous polyposis (FAP, see this term) characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors (desmoid tumor; see this term).
Subarachnoid Hemorrhage Hemorrhage occurring between the arachnoid mater and the pia mater.
Sleep Initiation and Maintenance Disorders
Dermatitis, Atopic
Death
Severe Acute Respiratory Syndrome A viral infectious disease that results_in infection located_in respiratory tract, has_material_basis_in SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.
Exocrine Pancreatic Insufficiency
Raynaud Disease OMIM mapping confirmed by DO. [SN].
Cleft Palate An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate.
Multiple Endocrine Neoplasia
Self Mutilation
Aneurysm, Dissecting
Hyperandrogenism
Leukemia, Monocytic, Acute
Gastrointestinal Neoplasms
Pain An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.
Anticipation, Psychological
Nevus, Blue
Enterobacteriaceae Infections
Peripheral Nervous System Diseases
Negotiating
Mediastinal Neoplasms
Vitamin D Deficiency
Anus Diseases
Testicular Diseases
Protein S Deficiency
Pulmonary Fibrosis
Factor V Deficiency OMIM mapping confirmed by DO. [SN].
Steroid Metabolism, Inborn Errors
Dementia, Vascular
Coronary Stenosis
Pallister-Hall Syndrome OMIM mapping confirmed by DO. [SN].
Cheilitis A lip disease characterized by the inflammation of the lips; which may include the perioral skin, the vermilion border and the labial mucosa.
Fetal Weight
Ophthalmoplegia
Polycythemia Vera OMIM mapping confirmed by DO. [SN].
Ophthalmia, Sympathetic
Filariasis A parasitic helminthiasis infectious disease that involves parasitic infection of the lymphatics and subcutaneous tissue by nematodes of the superfamily Filarioidea.
Tricuspid Atresia Failure to develop of the tricuspid valve and thus lack of the normal connection between the right atrium and the right ventricle.
Maple Syrup Urine Disease An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures.
Delirium
Combat Disorders
Meningomyelocele
Thyroid Nodule
Epilepsy, Rolandic
Frasier Syndrome OMIM mapping confirmed by DO. [SN].
Head Injuries, Closed
Asperger Syndrome An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development.
Granulosa Cell Tumor
Bipolar Disorder A mood disorder that involves alternating periods of mania and depression.
Imagination
Waardenburg's Syndrome An autosomal disease characterized by varying degrees of deafness, minor defects in structures arising from the neural crest and pigmentation anomalies of the hair, the skin and/or the iris of both eyes.
Blepharoptosis An eye disease characterized by the drooping or falling of the upper or lower eyelid.
Substance Abuse, Intravenous
Abnormalities
Compulsive Personality Disorder
Tooth, Supernumerary
Psychophysiologic Disorders
Bronchiectasis A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances.
Asthma A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety.
Aortic Valve Insufficiency An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle.
Restless Legs Syndrome A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them.
Mitral Valve Insufficiency
Periapical Abscess
Dyslexia, Acquired
Encephalocele A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull.
Sinusitis A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip.
Spirituality
Narcolepsy A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work.
Digestive System Diseases
Nerve Degeneration
Hypotrichosis A hair disease that is characterized by sparse hair on the scalp resulting from abnormal hair follicle development and has_material_basis in mutations in proteins involved in hair growth, division or proliferation of cells within hair follicles.
Mastocytosis OMIM mapping confirmed by DO. [LS].
Hemolytic-Uremic Syndrome Xref MGI.
Brain Damage, Chronic
Color Vision
Frontotemporal Dementia A basal ganglia disease characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language.
Oligospermia
Night Blindness
Vitelliform Macular Dystrophy A macular degeneration that can cause progressive vision loss, it is characterized by the disruption of cells in a small area near the center of the retina, the macula.
Duodenal Diseases
Cicatrix
Mycoplasma Infections
Child, Gifted
Whiplash Injuries
Myelitis, Transverse
Iatrogenic Disease
Intracranial Hemorrhage, Hypertensive
Tension-Type Headache A type of headache that last hours with continuous pain of mild or moderate intensity, bilateral location, a pressing/tightening (non-pulsating) quality and that is not aggravated by routine physical activity such as walking or climbing stairs.
Photophobia Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
No-Reflow Phenomenon
Heart Defects, Congenital
Dermatitis, Occupational
Carcinoma, Squamous Cell
Respiratory Tract Diseases
Rectal Neoplasms
Rheumatoid Vasculitis
Cryopyrin-associated Periodic Syndromes
Glioma A cell type cancer that has_material_basis_in glial cells and is located_in brain or located_in spine.
Diabetic Neuropathies
Lymphangioleiomyomatosis
Multiple System Atrophy OMIM mapping confirmed by DO. [LS].
Sinus Thrombosis, Intracranial
Dupuytren Contracture An abnormality of the hand resulting from contracture of the palmar fascia with a fixed flexion deformity of the metacarpophalangeal (MCP) joints and the proximal interphalangeal (PIP) joints.
Gastroesophageal Reflux OMIM mapping confirmed by DO. [SN].
Lupus Nephritis Glomerulonephritis associated with autoimmune disease SYSTEMIC LUPUS ERYTHEMATOSUS. Lupus nephritis is histologically classified into 6 classes: class I - normal glomeruli, class II - pure mesangial alterations, class III - focal segmental glomerulonephritis, class IV - diffuse glomerulonephritis, class V - diffuse membranous glomerulonephritis, and class VI - advanced sclerosing glomerulonephritis (The World Health Organization classification 1982).
Psychotherapy, Group
Proteinuria
Nephritis
Acute Kidney Injury Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia).
Adrenal Cortex Diseases
Unconsciousness
Mitochondrial Myopathies
Hyperkalemia An abnormally increased potassium concentration in the blood.
Exfoliation Syndrome OMIM mapping confirmed by DO. [SN].
Pelvic Neoplasms
Funnel Chest A defect of the chest wall characterized by a depression of the sternum, giving the chest (pectus) a caved-in (excavatum) appearance.
Gambling An activity distinguished primarily by an element of risk in trying to obtain a desired goal, e.g., playing a game of chance for money.
Tooth, Nonvital
Intracranial Arteriovenous Malformations
Clostridium Infections
Carpal Tunnel Syndrome OMIM mapping confirmed by DO. [SN].
Gingival Hemorrhage
Astigmatism A refractive error characterized by the optics of the eye to focus a point object into a sharp focused image on the retina, has_symptom blurred vision.
Balkan Nephropathy An interstitial nephritis endemic to the regions along the Danube river, in the modern countries of Croatia, Bosnia and Herzegovina, Serbia, Romania and Bulgaria.
Actinobacillus Infections
Anxiety, Separation
Takayasu Arteritis A syndrome that involves inflammation of the aorta that carries blood from the heart to the rest of the body.
Muscular Dystrophies
Tuberculosis, Osteoarticular
Foot Ulcer
Galvanic Skin Response
Vulvar Diseases
Dysarthria Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Nephrotic Syndrome Xref MGI.
Bird Fancier's Lung An extrinsic allergic alveolitis which is caused by inhalation of antigens from avian excreta. The disease has_symptom abrupt onset of dyspnea, has_symptom cough, has_symptom malaise, and has_symptom fever, after exposure to antigen.
Interview, Psychological
Ulnar Neuropathies
Choice Behavior
Demyelinating Diseases
Wilms Tumor
Toxoplasmosis, Cerebral
Intervertebral Disc Displacement
Gingival Diseases
Encephalomyelitis, Acute Disseminated
Metaplasia
Isochromosomes
Pelvic Pain
Galactosemias
Median Neuropathy
Vasculitis, Hypersensitivity
Hypopigmentation A reduction of skin color related to a decrease in melanin production and deposition.
Arterial Occlusive Diseases
Neoplasms, Hormone-Dependent
Cognitive Therapy
Arthritis, Reactive
Ventricular Outflow Obstruction
Glycogen Storage Disease A glycogen metabolism disorder that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types.
Theory of Mind
Pouchitis Acute INFLAMMATION in the INTESTINAL MUCOSA of the continent ileal reservoir (or pouch) in patients who have undergone ILEOSTOMY and restorative proctocolectomy (PROCTOCOLECTOMY, RESTORATIVE).
Colonic Polyps abnormal tissue masses that protrude into the lumen of the colon and are tethered to the wall of the colon
Marfan Syndrome OMIM mapping confirmed by DO. [SN].
Speech Disorders
Adrenal Insufficiency Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves.
Hernia, Diaphragmatic
Hereditary Autoinflammatory Diseases
Endometritis
Tetralogy of Fallot OMIM mapping confirmed by DO. [LS].
Pregnancy Complications
Asbestosis A pneumoconiosis caused by inhalation and retention of asbestos fibers.
Stomatitis
Oligomenorrhea Infrequent menses (less than 6 per year or more than 35 days between cycles).
Pyloric Stenosis, Hypertrophic
Attentional Blink
Cerebellar Diseases
Prolactinoma OMIM mapping confirmed by DO. [SN].
Muscular Dystrophy, Facioscapulohumeral
Scrub Typhus A typhus that has_material_basis_in Orientia tsutsugamushi, which is transmitted_by trombiculid mites (Leptotrombidium deliense). The infection has_symptom fever, has_symptom headache, has_symptom muscle pain, has_symptom cough, has_symptom maculopapular rash, has_symptom eschar, has_symptom splenomegaly and has_symptom lymphadenopathy.
Onychomycosis A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split.
Ataxia Telangiectasia OMIM mapping confirmed by DO. [SN].
von Willebrand Diseases
Hepatoblastoma
Cerebral Arterial Diseases
Factor XIII Deficiency OMIM mapping confirmed by DO. [SN].
Hearing Loss, Functional
Prostatic Intraepithelial Neoplasia A neoplastic proliferation of the epithelial cells that line the acini and the ducts of the prostate gland. The neoplastic epithelial cells are confined within the acini and the ducts and they do not invade the surrounding prostatic stroma. Morphologically, it is classified as low or high grade.|noninvasive prostate duct lesions that affect smaller caliber ducts
Optic Disk Drusen
Satiety Response
Diffuse Cerebral Sclerosis of Schilder
Aortic Diseases
Wolfram Syndrome A genetic disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding wolframin (WFS1).
Edema An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
Nephritis, Interstitial
Lipodystrophy, Familial Partial
Adhesions
Intraoperative Complications
Angioedema A skin disease characterized by the rapid swelling of the dermis, subcutaneous tissue, mucosa and submucosal tissues.
Asymptomatic Infections
Hypoparathyroidism A parathyroid gland disease characterized by decreased function of parathyroid glands with underproduction of parathyroid hormone (PTH), leading to abnormally low ionized calcium levels in the blood.
Klinefelter Syndrome No OMIM mapping, confirmed by DO. [LS].
Otosclerosis A labyrinthine disease characterized by an abnormal bone growth in the middle ear.
Hyperammonemia An increased concentration of ammonia in the blood.
Hemochromatosis A metal metabolism disorder characterized by the accumulation of iron in various organs of the body.
Osteomalacia A bone remodeling disease that has_material_basis_in a vitamin D deficiency which results_in softening located_in bone.
Leukemia-Lymphoma, T-Cell, Acute, HTLV-I-Associated
Renal Aminoacidurias
Intracranial Embolism and Thrombosis
Achlorhydria absence of hydrochloric acid in the gastric secretions
Leishmaniasis, Mucocutaneous
Motion Sickness OMIM mapping confirmed by DO. [SN].
Neurofibromatoses
Endometrial Neoplasms
Shoulder Fractures
Ichthyosis, X-Linked
Lynch Syndrome II
Prostatic Diseases
Niemann-Pick Diseases
Huntington Disease A neurodegenerative disease and an autosomal dominant disease that is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.
Esophageal Atresia
Skin Diseases, Parasitic
Job's Syndrome OMIM mapping confirmed by DO. [SN].
Holoprosencephaly A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies.
Purpura, Thrombocytopenic
Retention
Leukemia, Biphenotypic, Acute
Hypertrophy Hypertrophy is the increase in the volume of an organ or tissue due to the enlargement of its component cells.
Skull Base Neoplasms
Schizoid Personality Disorder A personality disorder that is characterized by a lack of interest in social relationships, a tendency towards a solitary lifestyle, secretiveness, emotional coldness and sometimes sexual apathy, with a simultaneous rich, elaborate and exclusively internal fantasy world.
Weil Disease
Chylothorax Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity.
Hyperoxaluria, Primary
Cataract A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.
Adrenal Rest Tumor
Migraine with Aura A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon.
Ankylosis Ankylosis is a arthropathy where there is a stiffness of a joint, the result of injury or disease. The rigidity may be complete or partial and may be due to inflammation of the tendinous or muscular structures outside the joint or of the tissues of the joint itself.
Myositis Ossificans A myositis that is accompanied by ossification of muscle tissue or bony deposits in the muscles.
Differential Threshold
Pain, Intractable
Fibrosarcoma A connective tissue cancer that has_material_basis_in fibrous connective tissue and characterized by the presence of immature proliferating fibroblasts or undifferentiated anaplastic spindle cells in a storiform pattern.
Articulation Disorders
Lymphoma, Non-Hodgkin
Gastrointestinal Diseases
Paresis partial loss of power of voluntary movement in a muscle through injury or disease of it or its nerve supply
Intestinal Diseases
Bronchiolitis Obliterans A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults.
Growth Hormone-Secreting Pituitary Adenoma OMIM mapping confirmed by DO. [SN].
Temperature Sense
Thyroglossal Cyst An abnormality of the thyroid gland owing to the presence of a fibrous cyst resulting from the persistence of the thyroglossal duct.
Vesico-Ureteral Reflux A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter.
Pneumoconiosis An interstitial lung disease that is caused by the inhalation of dust.
Carcinoma, Papillary
Respiratory Distress Syndrome, Newborn
Ketosis Presence of elevated levels of ketone bodies in the body.
Lymphoma, Large-Cell, Immunoblastic
Sertoli Cell Tumor
Erythema Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.
Myopia, Degenerative
Carcinoma, Pancreatic Ductal
Cutaneous Fistula
Thromboangiitis Obliterans OMIM mapping confirmed by DO. [LS].
Brain Ischemia
Lichen Planus, Oral
Muscular Diseases
Mandibulofacial Dysostosis OMIM mapping confirmed by DO. [SN].
Spinal Muscular Atrophies of Childhood A spinal muscular atrophy that is associated with the survival of motor neuron protein.
Color Vision Defects
Lead Poisoning, Nervous System
Psychophysiology
Dental Pulp Necrosis
Malnutrition
Obsessive-Compulsive Disorder An anxiety disorder that involves unwanted and repeated thoughts, feelings, ideas, sensations (obsessions), or behaviors that make them feel driven to do something (compulsions).
Osteomyelitis A bone inflammation disease that has_material_basis_in infection located_in bone or located_in bone marrow.
Thecoma
Back Injuries
End Stage Liver Disease
Lung Injury
Airway Remodeling
Epilepsy, Tonic-Clonic
Satiation
Glioblastoma
Chondrosarcoma A connective tissue cancer that has_material_basis_in cells derived from transformed cells that produce cartilage.
Lissencephaly A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation.
Branchio-Oto-Renal Syndrome OMIM mapping confirmed by DO. [SN].
Leukoplakia
Epilepsies, Myoclonic
Gestational Trophoblastic Neoplasms
Anemia, Macrocytic
Warts Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas.
Urticaria A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis.
Mental Fatigue
Psychoses, Substance-Induced
Ureaplasma Infections
Stereotypic Movement Disorder A specific developmental disorder that is characterized by repeated, rhythmic, purposeless movements or activities such as head banging, nail biting, or body rocking.
Epilepsy, Post-Traumatic
Intracranial Aneurysm
Fraser Syndrome
Choroidal Neovascularization new, abnormal, vessel development of the thin, highly vascularized membrane covering most of the posterior of the eye between the retina and the sclera
Calcinosis A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue.
Spinal Cord Diseases
Fungemia
Thanatophoric Dysplasia An osteochondrodysplasia that results_in short arms and legs with excess folds of skin.
Pregnancy Complications, Neoplastic
Alcohol Withdrawal Seizures
Ichthyosis Vulgaris OMIM mapping confirmed by DO. [SN].
Hemorrhagic Fever, Crimean
Chronic Periodontitis
Sickle Cell Trait
Biotinidase Deficiency A multiple carboxylase deficiency that involves a deficiency in biotinidase.
Hydatidiform Mole OMIM mapping confirmed by DO. [SN].
Prostatic Neoplasms
Hypoglycemia
Subacute Sclerosing Panencephalitis A viral infectious disease that results_in infection located_in brain, has_material_basis_in Measles virus which is immune resistant (which can be a result of a mutation of the virus itself).
Hypnosis
Premenstrual Syndrome
Arrhythmias, Cardiac
Leukemia, Plasma Cell
Legg-Perthes Disease Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature.
Carney Complex An autosomal dominant disease characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity.
Arteriosclerosis Obliterans
Optic Atrophy, Hereditary, Leber
Canavan Disease OMIM mapping confirmed by DO. [SN].
Hermanski-Pudlak Syndrome
Gastroparesis
Congenital Disorders of Glycosylation
Arthritis, Juvenile Rheumatoid
Upper Extremity Deformities, Congenital
Mental Retardation, X-Linked
Disseminated Intravascular Coagulation
Thoracic Injuries
Stroop Test
HIV Infections
Paraganglioma Xref MGI.
Bone Demineralization, Pathologic
REM Sleep Behavior Disorder A sleep disorder that involves abnormal behavior including the acting out of violent or dramatic dreams during the sleep phase with rapid eye movement.
Persistent Vegetative State
Complex Regional Pain Syndromes
Dysplastic Nevus Syndrome OMIM mapping confirmed by DO. [SN].
Auditory Perceptual Disorders
Giant Lymph Node Hyperplasia
Hyperthyroidism A thyroid gland disease that involves an over production of thyroid hormone.
Carcinoma, Neuroendocrine
Neuroma, Acoustic
Jaw Abnormalities any structural anomaly of the bony framework of the mouth where the teeth are held
Insulinoma An adenoma that is a tumor in the pancreas that produces too much insulin.
Lipid Metabolism Disorders
Leukocyte Disorders
Heart Neoplasms
Leg Ulcer
Volition
Ependymoma The presence of an ependymoma of the central nervous system.
Melanoma A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from melanocytes which are found in skin, the bowel and the eye.
Mucocele
Lead Poisoning, Nervous System, Childhood
Chorea A movement disease characterized by brief, semi-directed, irregular movements that not repetitive or rhythmic, but appear to flow from one muscle to the next.
Bronchial Hyperreactivity A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety.
Optic Atrophy, Autosomal Dominant
Chondrocalcinosis An arthritis that has_material_basis_in the accumulation of salt crystals located_in joint.
Peripheral Vascular Diseases
Depressive Disorder, Major
Thrombocythemia, Essential
Low Tension Glaucoma
Achondroplasia An osteochondrodysplasia that results_in dwarfism which has_material_basis_in abnormal ossification of cartilage in located_in long bone.
Gastric Outlet Obstruction
Small Cell Lung Carcinoma
Ileal Neoplasms
Xeroderma Pigmentosum An autosomal recessive disease that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair.
Gastroenteritis A gastrointestinal system infectious disease that involves inflammation of the lining of the stomach and small and large intestines, which is caused by viruses, bacteria, or parasites. Chemicals and drugs also cause gastroenteritis. The symptoms include diarrhea, loss of appetite, nausea, vomiting, cramps, and discomfort in the abdomen.
Acute Chest Syndrome A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph.
Rosacea
Vulvitis
Hypolipoproteinemias
Cystadenocarcinoma An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, in which cystic accumulations of retained secretions are formed.
Anorexia Nervosa An eating disorder characterized by refusal to maintain a healthy body weight, and an obsessive fear of gaining weight due to a distorted self image.
Mycobacterium avium-intracellulare Infection
Myopathies, Structural, Congenital
Central Nervous System Diseases
Tendinopathy
Death, Sudden, Cardiac
Spondylolisthesis A bone structure disease that has_material_basis_in displacement located_in set of vertebrae.
Heart Septal Defects
Li-Fraumeni Syndrome An autosomal dominant disease characterized by increases risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata.
Biliary Tract Neoplasms
Melioidosis A primary bacterial infectious disease that results_in infection, has_material_basis_in Burkholderia pseudomallei, which is transmitted_by contact with the contaminated water or soil. The infection has_symptom fever, has_symptom respiratory distress, has_symptom chest pain, and has_symptom stomach pain.
Keloid A sharply elevated, irregularly shaped, progressively enlarging scar resulting from formation of excessive amounts of collagen in the dermis during connective tissue repair. It is differentiated from a hypertrophic scar ( CICATRIX, HYPERTROPHIC) in that the former does not spread to surrounding tissues.
Shock, Septic
Meditation
Antisocial Personality Disorder A personality disorder that involves a pervasive pattern of disregard for, and violation of, the rights of others that begins in childhood or early adolescence and continues into adulthood.
Neoplastic Processes
Micrognathism
Manifest Anxiety Scale
Retinitis Pigmentosa A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.
Chromosome Disorders
Motor Skills Disorders
Osteitis Deformans A bone formation disease that has_material_basis_in hyperactive osteoclast which results_in abnormal osteoblast bone formation located_in skull, located_in pelvis, located_in vertebral column, located_in set of limbs.
Nervous System Diseases
HELLP Syndrome A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count.
Silicosis A pneumoconiosis that is an inflammation and scarring of the uper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles.
Pancreatic Pseudocyst Cyst-like space not lined by epithelium and contained within the pancreas. Pancreatic pseudocysts are often associated with pancreatitis.
Pemphigoid, Benign Mucous Membrane
Trypanosomiasis, African
Attention Deficit and Disruptive Behavior Disorders
Oral Ulcer A stomatitis characterized by the repeated formation of benign and non-contagious mouth ulcers.
Disease Models, Animal
Abdominal Pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.
Multiple Sclerosis A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.
Sleep Bruxism
Obstetric Labor, Premature
Choristoma
Drug Eruptions
Pelvic Inflammatory Disease
Brain Hemorrhage, Traumatic
Hepatitis, Viral, Human INFLAMMATION of the LIVER in humans due to infection by VIRUSES. There are several significant types of human viral hepatitis with infection caused by enteric-transmission ( HEPATITIS A; HEPATITIS E) or blood transfusion ( HEPATITIS B; HEPATITIS C; and HEPATITIS D).
Schistosomiasis japonica A schistosomiasis that involves parasitic infection of the intestine caused by Schistosoma mansoni, Schistosoma intercalatum or Schistosomiasis japonicum. The symptoms include fever, cough, abdominal pain, diarrhea, hepatosplenomegaly, colonic polyposis with bloody diarrhea and eosinophilia.
Sleep, REM
Autonomic Nervous System Diseases
Anovulation
Bezoars
Knee Injuries
Fractures, Bone Breaks in bones.
Phenylketonurias
Moraxellaceae Infections
Hyperventilation Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide.
Sick Building Syndrome An extrinsic allergic alveolitis that is characterized by a set of symptoms such as headache, fatigue, eye irritation, and breathing difficulties that affect workers in modern airtight office buildings. The disease is caused by indoor pollutants (as formaldehyde fumes, particulate matter, or microorganisms), and the symptoms tend to disappear when affected individuals leave the building.
Pancreatitis, Acute Necrotizing
Sebaceous Gland Diseases
Sciatica Pain in the lower back and hip radiating in the distribution of the sciatic nerve.
Lead Poisoning
Menopause, Premature
Optic Nerve Diseases
Substance Withdrawal Syndrome A substance-specific organic brain syndrome that follows the discontinuation of administration or use, or reduction in intake of an addictive substance, e.g. opioids, barbiturates and alcohol; amphetamines or similarly acting sympathomimetics; cocaine; nicotine; sedatives, hypnotics, or anxiolytics. Syndrome manifests with diverse, often painful physical and psychological symptoms, which include but not limited to intense drug craving, anxiety, depression, insomnia, nausea, perspiration, body aches, tremors, hallucinations, and convulsions.
Tooth Mobility
Escherichia coli Infections
Intestinal Polyposis The presence of multiple polyps in the intestine.
Hematoma
Activated Protein C Resistance Poor anticoagulant response to activated protein C. A plasma is termed 'APC resistant' when the addition of exogenous APC fails to prolong its clotting time in an activated partial thromboplastin time assay.
Motor Neuron Disease A neurodegenerative disease that is located_in the motor neurones.
Paracoccidioidomycosis A primary systemic mycosis that results_in systemic fungal infection located_in mucosa, located_in lymph nodes, located_in bone, located_in skin or located_in lungs, has_material_basis_in Paracoccidioides brasiliensis.
Psoriasis A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales).
Lymphatic Metastasis
Bacteriuria A urinary system disease which consists of the presence of bacteria in urine.
Parasitemia A disease by infectious agent that is carried out by a parasite which by definition is a pathogen that simultaneously injures and derives sustenance from its host.
Breast Diseases
Gastritis, Atrophic
Amyloidosis, Familial
Hypertension, Pregnancy-Induced
Schizotypal Personality Disorder A personality disorder that involves a need for social isolation, anxiety in social situations, odd behavior and thinking, and often unconventional beliefs.
Esophageal Neoplasms
Adenocarcinoma, Follicular
Maze Learning
Hemoglobinuria, Paroxysmal
Parathyroid Neoplasms
Bone Diseases
Adenocarcinoma, Bronchiolo-Alveolar
Urinary Incontinence, Urge
Cadmium Poisoning
Guillain-Barre Syndrome An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system.
Brain Diseases
Bone Resorption
Leukemia, Radiation-Induced
Pleasure
Obesity OMIM mapping confirmed by DO. [SN].
Leukemia, Experimental
Vertebral Artery Dissection
Hemianopsia Partial or complete loss of vision in one half of the visual field of one or both eyes.
Stomatitis, Herpetic
Urinary Bladder, Overactive
Retinal Drusen OMIM mapping confirmed by DO. [SN].
Leukemia, B-Cell
Liposarcoma A lipomatous cancer that arises in fat cells in deep soft tissue retroperitoneum.
Iron Overload
Lymphomatoid Granulomatosis
Pericardial Effusion A pericardium disease that is characterized by an abnormal accumulation of fluid in the pericardial cavity.
Factor XII Deficiency OMIM mapping confirmed by DO. [SN].
Mucositis
Hypertension, Renovascular
Leukemia, Myelomonocytic, Chronic
Retroperitoneal Neoplasms
Manganese Poisoning
Muscle Cramp
Soft Tissue Injuries
Amino Acid Metabolism, Inborn Errors
Coronary Vessel Anomalies
Bulimia A form of anomalous eating behavior characterized by binge eating is followed by self-induced vomiting or other compensatory behavior intended to prevent weight gain (purging, fasting or exercising or a combination of these).
Cellulitis A skin disease where there is a diffuse infection of connective tissue with severe inflammation of dermal and subcutaneous layers of the skin. Cellulitis can be caused by normal skin flora or by exogenous bacteria, and often occurs where the skin has previously been broken: cracks in the skin, cuts, blisters, burns, insect bites, surgical wounds, or sites of intravenous catheter insertion.
Recognition
Sunburn An injury to the skin causing erythema, tenderness, and sometimes blistering and resulting from excessive exposure to the sun. The reaction is produced by the ultraviolet radiation in sunlight.
Aphakia absence of the crystalline lens of the eye
Fibromuscular Dysplasia
Memory Disorders
Varicose Veins A vein disease that is characterized by swollen, twisted veins visible just under the surface of the skin.
Fibrous Dysplasia, Polyostotic
XYY Karyotype
Darier Disease
Osteophyte A hyperostosis that involves formation of new bone on the surface of preexisting bone.
Adrenoleukodystrophy A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death.
Foramen Ovale, Patent
Ventricular Dysfunction, Left
Carcinoma, Adenosquamous
Postphlebitic Syndrome A venous insufficiency that is characterized by aching pain, heaviness, swelling, cramps, itching, or tingling in the affected limb and is a chronic complication of deep venous thrombosis.
Endometriosis
Aortic Aneurysm An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size.
Chromosome Breakage A type of chromosomal aberration characterized by an increased susceptibility to chromosomal breakage induced by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents.
Alzheimer Disease A tauopathy that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. It is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability.
Leishmaniasis, Cutaneous
Neoplasms
Rectal Fistula The presence of a fistula affecting the rectum.
Peutz-Jeghers Syndrome OMIM mapping confirmed by DO. [SN].
Kernicterus
Retinal Vasculitis
Eczema A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin.
Epilepsies, Partial
Dihydropyrimidine Dehydrogenase Deficiency A purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine.
Intestinal Pseudo-Obstruction
Syndrome A disease comprised of a group of signs and symptoms that occur together and characterize a particular abnormality.
Kidney Neoplasms Tumors or cancers of the KIDNEY.
Blood Coagulation Disorders
Leukemia, Megakaryoblastic, Acute
Fetal Death
Enterovirus Infections
Diurnal Enuresis
Hemangioma, Capillary
Malocclusion Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.
Gonadoblastoma A cell type benign neoplasm that is composed_of a mixture of gonadal elements.
Spondylarthritis
Root Resorption
Leprosy, Multibacillary
Neoplasms, Bone Tissue
Leber Congenital Amaurosis A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.
Cystic Fibrosis An autosomal recessive disease that is characterized by the buildup of thick, sticky mucus that can damage many organs.
Blindness
Scotoma
Dominance, Cerebral
Spinal Osteophytosis
Constriction, Pathologic
Autoimmune Diseases
Paralysis, Hyperkalemic Periodic
Schizophrenia, Disorganized
Blood Platelet Disorders
Thrombocythemia, Hemorrhagic
Leukemia, Lymphoid
Craniofacial Abnormalities any structural anomaly of the face or head affecting appearance
Beckwith-Wiedemann Syndrome A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations.
Onchocerciasis A filariasis that involves parasitic infection caused by the nematode Onchocerca volvulus, which is transmitted to humans through the bite of a blackfly of the genus Simulium. The worms spread throughout the body and, when they die, cause intense itching and a strong immune system response that can destroy nearby tissue. The symptoms include pruritus, dermatitis, blindness, onchocercomata (subcutaneous nodules), and lymphadenopathy.
Mitochondrial Encephalomyopathies
Stomatitis, Aphthous
Polyneuropathies
Disease Progression
Hearing Loss, Sensorineural
Acute Lung Injury Acute lung injury (ALI) is a diffuse heterogeneous lung injury characterized by hypoxemia, non cardiogenic pulmonary edema, low lung compliance and widespread capillary leakage. ALI is caused by any stimulus of local or systemic inflammation, principally sepsis.
Thyroiditis Updating to more specific UMLS_CUI from C0029495 to C0040147.
Urinary Tract Infections
Fibrous Dysplasia of Bone An autosomal dominant disease that involves skin pigmentation, bone and hormonal problems along with premature puberty. It is caused by mutations in the GNAS1 gene.
Disease Susceptibility
Thyroid Hormone Resistance Syndrome OMIM mapping confirmed by DO. [LS].
Rett Syndrome A pervasive developmental disease that is a neurological and developmental disorder that mostly occurs in females and is caused_by a mutation on the MECP2 gene on the X chromosome. Infants with Rett syndrome seem to grow and develop normally at first, but then stop developing and even lose skills and abilities.
Nondisjunction, Genetic
Tenosynovitis
Lymphoma, T-Cell, Peripheral
MMPI
Lower Extremity Deformities, Congenital
Cardiomyopathies A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.
Adenocarcinoma A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue.
Delayed Graft Function
Leukemia, B-Cell, Chronic
Pneumonia, Mycoplasma
Colitis, Ulcerative
Abetalipoproteinemia A hypolipoproteinemia that is characterized by an inablility to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_physical_basis_in an autosomal recessive disorder of lipid metabolism caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL).
Confusion Lack of clarity and coherence of thought, perception, understanding, or action.
Dysautonomia, Familial
Candidiasis An opportunistic mycosis that involves fungal infection of the mouth, throat, skin, scalp, vagina, fingers, nails, bronchi, lungs, heart and brain by Candida species, of which Candida albicans is the most common. Systemic Candida infections are usually confined to severely immunocompromised persons.
Diseases in Twins
Hypertension, Malignant
Echinococcosis, Hepatic
Retinal Neovascularization formation of new blood vessels originating from the retinal veins and extending along the inner (vitreal) surface of the retina
Cachexia Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.
Humeral Fractures
Hip Fractures Fractures of the FEMUR HEAD; the FEMUR NECK; (FEMORAL NECK FRACTURES); the trochanters; or the inter- or subtrochanteric region. Excludes fractures of the acetabulum and fractures of the femoral shaft below the subtrochanteric region (FEMORAL FRACTURES).
Aphasia, Primary Progressive
Fibromyalgia
Choreatic Disorders
Peritoneal Neoplasms
Fetal Alcohol Syndrome A fetal alcohol spectrum disorder that results in severe mental and physical defects which can develop in a child when the mother drinks alcohol during pregnancy. The presenting features include craniofacial dysmorphology (microcephaly, smooth philtrum, thin upper lip, small eye openings), pre- and postnatal growth deficiency, and central nervous system dysfunction.
Glomus Jugulare Tumor
Hemorrhagic Fever with Renal Syndrome A viral infectious disease that is a hemorrhagic fever, located_in kidney, has_material_basis_in Hantaan virus, has_material_basis_in Dobrava-Belgrade virus, has_material_basis_in Seoul virus, or has_material_basis_in Puumala virus, which are carried and transmitted_by rodents. The infection has_symptom headache, has_symptom fever, has_symptom muscle pains, has_symptom facial flush, has_symptom petechiae, has_symptom hemorrhagic features, has_symptom proteinuria, and has_symptom renal failure.
Amyloidosis An acquired metabolic disease that involves abnormal deposited of amyloid proteins in organs and/or tissues.
Lewy Body Disease A dementia and a synucleinopathy that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities.
Glucose Metabolism Disorders
Corneal Diseases
Ocular Motility Disorders
Hyperlipoproteinemia Type IV OMIM mapping confirmed by DO. [SN].
Cervical Intraepithelial Neoplasia
Campylobacter Infections
Hyperlipoproteinemia Type II
Prion Diseases
Tuberculosis, Gastrointestinal
Myositis A myopathy characterized by muscle inflammation.
Esophageal and Gastric Varices
Pneumonia, Pneumococcal
Kashin-Beck Disease
Conjunctivitis Conjunctivitis is a conjunctival disease described as a inflammation of the conjunctiva, the outermost layer of the eye and the inner surface of the eyelids, which is most commonly due to an allergic reaction or an infection (usually viral, but sometimes bacterial. Fungal infections are rare and occur mainly in people who use corticosteroid eye drops for a long time or have eye injuries involving vegetable matter. Newborns are particularly susceptible to eye infections, which they acquire from organisms in the mother's birth canal (neonatal conjunctivitis.
Brain Injuries
Epidermolysis Bullosa Acquisita
Periodontitis
Fluorosis, Dental
Death, Sudden
Cardiovascular Diseases
Genomic Instability abnormalities of DNA metabolism, DNA repair, cell-cycle governance, or control of apoptosis that increase the probability that whole chromosomes or pieces of chromosomes are gained or lost during cell division, resulting in an imbalance in the number of chromosomes per cell (aneuploidy) and an enhanced rate of loss of heterozygosity
Lung Diseases, Fungal
Diverticulitis
Impotence, Vasculogenic
Short Bowel Syndrome
Delirium, Dementia, Amnestic, Cognitive Disorders
Fetal Diseases
Liver Failure
Diabetes Insipidus, Nephrogenic
Bone Neoplasms
Sarcoidosis, Pulmonary
Friedreich Ataxia Xref MGI.
Aptitude
Impulse Control Disorders
Arthritis, Rheumatoid
Systemic Inflammatory Response Syndrome
Chagas Cardiomyopathy a form of cardiomyopathy that develops as a result of Chagas disease, an infection with the protozoan parasite Trypanosoma Cruzi
Mobility Limitation
Elephantiasis
Pituitary Diseases
Acromegaly A disease of metabolism that has_material_basis_in excessive growth hormone production which results_in enlargement located_in limb.
Headache Disorders, Secondary
Leukodystrophy, Metachromatic
Fractures, Closed
Rubella A viral infectious disease that results_in infection located_in skin, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom rash on the face which spreads to the trunk and limbs, has_symptom fever, has_symptom lymphadenopathy, has_symptom joint pains, has_symptom headache, and has_symptom conjunctivitis.
Tachycardia, Sinus
Chickenpox A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human herpesvirus 3, which is transmitted_by direct contact with secretions from the rash, or transmitted_by droplet spread of respiratory secretions. The infection has_symptom anorexia, has_symptom myalgia, has_symptom nausea, has_symptom fever, has_symptom headache, has_symptom sore throat, and has_symptom blisters.
Hallucinations Perceptions in a conscious and awake state in the absence of external stimuli which have qualities of real perception, in that they are vivid, substantial, and located in external objective space.
Hypertriglyceridemia An abnormal increase in the level of triglycerides in the blood.
Colitis, Microscopic
Tuberculosis A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.
Upper Extremity Deep Vein Thrombosis
Tachycardia, Supraventricular
Leigh Disease A mitochondrial metabolism disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity.
Hypogonadism A gonadal disease that is characterized by diminished functional activity of the gonads.
Typhoid Fever A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia.
Turner Syndrome No OMIM mapping, confirmed by DO. [LS].
Neurofibroma
Dengue
Obesity, Morbid
Cerebellar Ataxia A cerebellar disease characterized by ataxia originating in the cerebellum.
Leukemia, Large Granular Lymphocytic
Carcinoma, Endometrioid
Werner Syndrome OMIM mapping confirmed by DO. [LS].
Mental Health The state wherein the person is well adjusted.
Anomia An agnosia that involves a severe problem with recalling words or names.
Consciousness
Gastrointestinal Hemorrhage Hemorrhage affecting the gastrointestinal tract.
Femur Head Necrosis
Ascorbic Acid Deficiency
Dehydration
Carcinoma, Intraductal, Noninfiltrating
Hyperhomocysteinemia An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood.
Muscular Atrophy, Spinal
Herpes Simplex A viral infectious disease that results_in_formation_of lesions, located_in mouth, located_in face, located_in genitalia, or located_in hands, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which are transmitted_by direct contact with an active lesion or body fluid of an infected person.
Counseling
Uveal Neoplasms
Migraine Disorders
Idiopathic Pulmonary Fibrosis An idiopathic interstitial pneumonia which is a distinctive type of chronic fibrosing interstitial pneumonia with thick scarring in the lung creating a honeycomb appearance. The main symptoms start insidiously as shortness of breath on exertion, cough, and diminished stamina. Other common complaints include weight loss and fatigue. The level of oxygen in the blood decreases, and the skin may take on a bluish tinge (called cyanosis) and the ends of the fingers may become thick or club-shape. In most people, symptoms worsen over a period ranging from about 6 months to several years.
Protein-Energy Malnutrition
Geriatric Psychiatry
Histiocytoma, Malignant Fibrous
Melanoma, Amelanotic
Tachycardia, Ventricular
Diarrhea A gastrointestinal system disease described as the condition of having frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. The loss of fluids through diarrhea can cause severe dehydration which is one cause of death in diarrhea sufferers. Along with water, sufferers also lose dangerous amounts of important salts, electrolytes, and other nutrients. There are at least four types of diarrhea: secretory diarrhea, osmotic diarrhea, motility-related diarrhea, and inflammatory diarrhea.
Pulmonary Alveolar Proteinosis A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange.
Aortic Rupture
Sensation Disorders
Polymyositis
Pigmentation Disorders
Thyroiditis, Autoimmune
Central Nervous System Neoplasms
Thoracic Neoplasms
Lipidoses
Peritoneal Diseases
Hyperparathyroidism A parathyroid gland disease characterized by an overactivity of the parathyroid glands, leading to an excess of parathyroid hormone in the body.
Xanthomatosis, Cerebrotendinous
Cleidocranial Dysplasia An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull.
Spinal Stenosis A bone deterioration disease that has_material_basis_in bony spurs, disc degeneration, or thickened ligaments which results_in narrowing located_in spinal cord.
Ganglioglioma A cell type benign neoplasm that has_material_basis_in glial-type cells.
Phyllodes Tumor
Hernia, Inguinal
Prostatism
Carcinoma, Renal Cell
Glaucoma
Malaria, Vivax
Child Psychology
Test Anxiety Scale
Pica An appetite for and the persistent ingestion of non-food substances such as clay. In order to diagnose pica, this behavior must have persisted over a period of at least one month.
Sleep Stages
Coronary Vasospasm
Lupus Erythematosus, Cutaneous
Muscle Rigidity Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.
Taste
Intervertebral Disk Degeneration
Epilepsy, Temporal Lobe
Cardiovascular Abnormalities
Surgical Wound Infection
Cholelithiasis
Denys-Drash Syndrome An autosomal dominant disease that is characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma that derives_from an abnormality in the WT1 gene (Wilms' tumor suppressor gene).
Stevens-Johnson Syndrome
Hypercapnia Abnormally elevated blood carbon dioxide (CO2) level.
Abscess
Deltaretrovirus Infections
Carotid Body Tumor
Spondylarthropathies
Vascular Diseases
Infertility, Male
Urologic Diseases
Body Weight The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms.
Mouth, Edentulous
Skin Diseases, Vesiculobullous
Stomach Neoplasms
Leprosy, Paucibacillary
Antiphospholipid Syndrome A hypersensitivity reaction type II disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin).
Reinforcement
Connective Tissue Diseases
Osteoporosis, Postmenopausal Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency.
Granuloma, Pyogenic
Forensic Psychiatry
Mouth Abnormalities any structural anomaly of the oral cavity
Genetic Diseases, Inborn
Lung Diseases
Pregnancy Complications, Cardiovascular
Ulna Fractures Fractures of the larger bone of the forearm.
Anterior Wall Myocardial Infarction
Out-of-Hospital Cardiac Arrest
Viremia An infection that has as part virus particles located in the blood.
Postpartum Thyroiditis
Medulloblastoma An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor.
Hepatitis D A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis delta virus, which is an incomplete virus that requires the helper function of Hepatitis B virus to replicate and only occurs among people who are infected with the Hepatitis B virus. The infection has_symptom fatigue, has_symptom lethargy, has_symptom anorexia, has_symptom nausea, has_symptom jaundice, has_symptom clay-colored stools, has_symptom dark urine, has_symptom changes in personality, has_symptom disturbances in sleep, has_symptom confusion, has_symptom abnormal behavior, has_symptom somnolence, and has_symptom coma.
Hepatitis E A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis E virus, which is transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom dark urine, has_symptom joint pain, and has_symptom jaundice.
Giardiasis A parasitic protozoa infectious disease that involves infection of the small intestine by a single-celled enteric protozoan parasite Giardia intestinalis. The symptoms include greasy and malodorous stools, diarrhea, abdominal pain, bloating, nausea, and vomiting.
Lymphoma, Large B-Cell, Diffuse
Hepatitis A A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.
Hepatitis B A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus, which is transmitted_by sexual contact, transmitted_by blood transfusions, and transmitted_by fomites like needles or syringes. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.
Hepatitis C A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis C virus, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.
Severe Combined Immunodeficiency A combined T cell and B cell immunodeficiency that is caused by a defect in several genes encoding for B and T lymphocytes resulting in individuals with non-functional immune systems.
Starvation
Inflammatory Breast Neoplasms
Facies
Telangiectasia, Hereditary Hemorrhagic
Respiratory Syncytial Virus Infections
Spherocytosis, Hereditary
Osteoarthritis, Spine
Stroke An artery disease that is characterized by dysfunction of the blood vessels supplying the brain.
Trauma, Nervous System
Agricultural Workers' Diseases
Colorectal Neoplasms, Hereditary Nonpolyposis
Primary Graft Dysfunction
Lymphoproliferative Disorders
Sjogren's Syndrome A hypersensitivity reaction type II disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva.
Vasospasm, Intracranial
Joint Diseases
Neoplasm, Residual
Neuroectodermal Tumors, Primitive
Genital Diseases, Male
Hypospadias A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum.
Parasitic Diseases
Anemia, Hypochromic
Apnea Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.
Sweat Gland Diseases
Leukemia, Myeloid, Acute
Social Perception
Myocardial Infarction Xref MGI.
Nervous System Malformations
Fibroadenoma A breast benign neoplasm comprised of fibrous and glandoular tissues located_in breast.
Hypokinesia Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.
Cardiomyopathy, Hypertrophic
Hashimoto Disease
Nuchal Cord A complication of pregnancy and delivery in which the umbilical cord wraps around the fetal neck once or multiple times.
Ureteral Neoplasms
Erysipelas
Protein C Deficiency
Leukemia, B-Cell, Acute
Weight Loss Reduction inexisting body weight.
Intracranial Embolism
Pneumonia, Pneumocystis
Vulvar Lichen Sclerosus
Leukemia, Myelocytic, Acute A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.
Hydrocephalus, Normal Pressure
Cryoglobulinemia A hypersensitivity reaction type IV disease that involves large amounts of cryoglobulins in the blood which become thick or gel-like in cold temperatures.
Granulomatous Disease, Chronic
Hepatitis, Alcoholic
Dissociative Disorders
Endometrial Hyperplasia overdevelopment or increased size, usually due an increased number of cells, of the glandular mucous membrane lining of the uterine cavity that is hormonally responsive during the estrous/menstrual cycle and during pregnancy
Skin Diseases, Vascular
Puerperal Disorders
Esophagitis, Peptic
Torsades de Pointes A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG.
Optic Atrophy Xref MGI.
Learning
Eating Disorders
Gynecomastia
Ovarian Failure, Premature
DNA Virus Infections
Carcinoma, Lobular
Atrial Flutter A type of atrial arrhythmia characterized by atrial rates of between 240 and 400 beats per minute and some degree of atrioventricular node conduction block. Typically, the ventricular rate is half the atrial rate. In the EKG; atrial flutter waves are observed as sawtooth-like atrial activity. Pathophysiologically, atrial flutter is a form of atrial reentry in which there is a premature electrical impulse creates a self-propagating circuit.
Neoplasms, Neuroepithelial
Appendicitis A gastrointestinal system infectious disease that involves inflammation and infection of the appendix caused by the blockage of the lumen with a small, hard piece of stool, a foreign body or worms. Mucus backs up in the appendiceal lumen, causing bacteria that live inside the appendix to multiply. The infection has_symptom pain, in the upper abdomen initially and later in the lower abdomen, has_symptom nausea, has_symptom vomiting and has_symptom fever.
Leukemia, Neutrophilic, Chronic
Gangrene A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis).
Glomerulonephritis A nephritis that causes inflammation of the glomeruli located_in kidney.
Auditory Perception
Gender Identity
Paraneoplastic Polyneuropathy
Leiomyomatosis
Thrombocytosis A myeloma and blood platelet disease that is characterized by the presence of high platelet counts in the blood.
Common Bile Duct Neoplasms
Colonic Neoplasms
Carcinoma, Medullary
Microcephaly OMIM mapping confirmed by DO. [SN].
Granuloma, Lethal Midline
Attention Deficit Disorder with Hyperactivity
Channelopathies
Sexually Transmitted Diseases
Peritonitis A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output.
Sexual Dysfunction, Physiological
Urination Disorders
Postpartum Hemorrhage Significant maternal haemorrhage/blood loss following deilvery of a child.
Desmoplastic Small Round Cell Tumor Desmoplastic small round cell tumor (DSRCT) is an aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases.
Candidiasis, Invasive
Encephalitis, Herpes Simplex
Adenomatous Polyps
Psychomotor Disorders
Carcinoma, Hepatocellular
Taste Perception
Hypertension, Renal
Erythema Nodosum An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral.
Personality Disorders
Hearing Loss, Mixed Conductive-Sensorineural
Leukemia, Pre-B-Cell
Water Intoxication
Epilepsy, Benign Neonatal
Asthenozoospermia loss or reduction of the mobility of the spermatozoa, frequently associated with infertility
Acquired Hyperostosis Syndrome
Periodontitis, Juvenile
22q11 Deletion Syndrome A chromosomal disease that has_material_basis_in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features.
Retinoblastoma A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina.
Takayasu's Arteritis A syndrome that involves inflammation of the aorta that carries blood from the heart to the rest of the body.
Uveoparotid Fever
Cerebral Palsy A brain disease that is caused by damage to the motor control centers of the developing brain during pregnancy, during childbirth or after birth, which affects muscle movement and balance.
Glycosuria An increased concentration of glucose in the urine.
Burkholderia Infections
Neurodermatitis
Neoplastic Cells, Circulating
Ichthyosis An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.
Hyperparathyroidism, Primary
Opportunistic Infections
Hypergammaglobulinemia An increased level of gamma globulin (immunoglobulin) in the blood.
Muscular Atrophy
Adenoma, Villous
Coma Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli.
Colitis An inflammatory bowel disease that involves inflammation located_in colon.
Hepatitis, Toxic A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to ACUTE LIVER FAILURE, caused by drugs, drug metabolites, and chemicals from the environment.
Genetic Diseases, Y-Linked
Colorectal Neoplasms uncontrolled cell growth (neoplasia) occurring in the colon, rectum or vermiform appendix.
Choroid Diseases
Infantile Apparent Life-Threatening Event
Shock
Cluster Headache A type of headache characterized by repeated attacks of unilateral pain lasting 15 to 180 minutes and associated with local autonomic signs.
Pneumonia A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.
Nephrosis
Pseudoxanthoma Elasticum An autosomal recessive disease characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system.
Metal Metabolism, Inborn Errors
Visual Perception
Cataplexy A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions.
Leukomalacia, Periventricular
Fetofetal Transfusion
Deafness A decreased magnitude of the sensory perception of sound.
Elephantiasis, Filarial
Nose Neoplasms
Fibrocystic Breast Disease
Hearing Loss, Bilateral
Uterine Cervical Diseases
Respiratory Insufficiency Failure to adequately provide oxygen to cells of the body and to remove excess carbon dioxide.
Niemann-Pick Disease, Type C OMIM mapping confirmed by DO. [SN].
Neck Pain
Arteriosclerosis An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.
Rhabdoid Tumor Rhabdoid tumor (RT) is an aggressive pediatric soft tissue sarcoma that arises in the kidney, the liver, the peripheral nerves and all miscellaneous soft-parts throughout the body. RT involving the central nervous system (CNS) is called atypical teratoid rhabdoid tumor (ATRT; see this term).
Vestibulocochlear Nerve Diseases
Recurrence
Ciliary Motility Disorders
Psychological Tests
Memory
Pneumonia, Viral
Liver Cirrhosis, Biliary
Dwarfism A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
46, XX Disorders of Sex Development
Hearing Loss, Noise-Induced
Atrioventricular Block A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart.
Goiter A thyroid gland disease that involves an abnormal enlargement of the thyroid gland.
Myelitis
Otitis Media with Effusion
Amphetamine-Related Disorders
Gram-Negative Bacterial Infections
Bacteroidaceae Infections
Lymphoma, Follicular
Geographic Atrophy
Achievement
Anemia A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells.
Multiple Chemical Sensitivity A syndrome that is an adverse physical reaction to low levels of many common chemicals.
Leukemia, Lymphocytic, Chronic, B-Cell
Andersen Syndrome A long QY syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly.
Hyperkeratosis, Epidermolytic
Hypopharyngeal Neoplasms
Rhinitis, Allergic, Seasonal
Hyperbilirubinemia, Neonatal
Carcinoma, Large Cell
Pneumococcal Infections Infections with bacteria of the species STREPTOCOCCUS PNEUMONIAE.
Digestive System Abnormalities any structural anomaly of the system dedicated to the mechanical, chemical, and enzymatic processing of food
Wrist Injuries
Gout An arthritis that has_material_basis_in uric acid crystal deposits located_in joint.
Platybasia A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base.
Diabetic Foot
Erythroblastosis, Fetal
Language Tests
Hypertelorism Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Port-Wine Stain A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin.
Gingivitis
Gait Disorders, Neurologic
Prehypertension
Keratoconus A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape.
Carcinoma, Basal Cell
Felty's Syndrome A syndrome that results_in rheumatoid arthritis, splenomegaly and neutropenia.
Neuropsychology
Acidosis Abnormal acid accumulation or depletion of base.
Hyperostosis A bone remodeling disease that results in an abnormal growth of located_in bone.
Altitude Sickness
Perceptual Masking
Xerophthalmia
Anoxemia
Varicose Ulcer
Glomerulonephritis, IGA
Papillomavirus Infections
Rupture
Peanut Hypersensitivity
Stress
Biliary Tract Diseases
Cognition Intellectual or mental process whereby an organism becomes aware of or obtains knowledge.
Skin Diseases, Bacterial
Borderline Personality Disorder A personality disorder that involves a prolonged disturbance of personality function characterized by depth and variability of moods.
Poisoning
Diarrhea, Infantile
Brucellosis A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue.
Yellow Fever A viral infectious disease that results_in infection, has_material_basis_in Yellow fever virus, which is transmitted_by Aedes, transmitted_by Haemagogus, or transmitted_by Sabethes species of mosquitoes. The infection has_symptom fever, has_symptom muscle pain, has_symptom backache, has_symptom headache, has_symptom shivers, has_symptom loss of appetite, has_symptom jaundice, and has_symptom bleeding from the mouth, nose, eyes or stomach leading to vomitus containing blood.
Fanconi Syndrome A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting.
Embolism
Sensory Deprivation
Malocclusion, Angle Class II
Endodermal Sinus Tumor A germ cell cancer that has_material_basis_in cells that line the yolk sac of the embryo.
Ascites Accumulation of fluid in the peritoneal cavity.
Bronchiolitis, Viral
Meningitis, Pneumococcal
Renal Insufficiency, Chronic
Cholangiocarcinoma A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells.
Penile Neoplasms
Paresthesia Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.
Leprosy, Lepromatous
Adie Syndrome A syndrome that is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. It is characterized by one eye with a pupil that is larger than normal and constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon.
Mumps A viral infectious disease that results_in inflammation located_in salivary gland, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom headache, has_symptom muscle aches, has_symptom tiredness, has_symptom loss of appetite, has_symptom swollen and tender salivary glands under the ears or jaw on one or both sides of the face.
Entamoebiasis A parasitic protozoa infectious disease that involves infection caused by the amoeba Entamoeba histolytica. Amebic invasion of the intestinal lining causes dysentery, colitis or diarrhea. The infection can also spread through the blood to the liver and, rarely, to the lungs, brain or other organs.
Hepatitis, Chronic
Alkalosis Depletion of acid or accumulation base in the body fluids.
HIV Seropositivity
Leukemia, Myelomonocytic, Juvenile
Headache Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.
Community Mental Health Services
Maxillary Sinusitis A sinusitis which involves infection of maxillary sinuses that causes pain or pressure over the cheeks just below the eyes, tooth ache, and headache.
Leukemia, Megakaryocytic, Acute
Eosinophilic Esophagitis An esophagitis characterized by inflammation involving eosinophils located_in esophagus.
Dilatation, Pathologic
Gingival Overgrowth
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma
Staphylococcal Skin Infections
Herpes Labialis
Chromosome Aberrations
Pregnancy, Ectopic
Hydronephrosis
Electroshock
Kidney Diseases, Cystic
Heart Septal Defects, Atrial
Skin Diseases, Metabolic
Neoplastic Syndromes, Hereditary
Alopecia Areata A hypersensitivity reaction type II disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots.
Sensory Thresholds
Perceptual Disorders
Urolithiasis presence of calculi in any part of the urinary system
Bradycardia A slower than normal heart rate (in adults, slower than 60 beats per minute).
Ventricular Dysfunction, Right
Sexually Transmitted Diseases, Viral
Uveitis, Intermediate
Keratosis
Papilloma A cell type benign neoplam that is composed_of epithelial tissue on papillae of vascularized connective tissue.
Liver Diseases
Caliciviridae Infections
Blast Crisis
Hemangioma, Cavernous, Central Nervous System
Time Perception
Myotonic Dystrophy
Paramyxoviridae Infections
Translocation, Genetic
Cockayne Syndrome An autosomal recessive disease that is caused by rare mutations in two DNA excision repair proteins, ERCC-8 and ERCC-6, and characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging.
Optic Neuropathy, Ischemic
Anencephaly
Skull Fractures
Decision Making
Aortic Stenosis, Supravalvular
Auditory Threshold
Enterocolitis, Necrotizing
Breast Neoplasms
Myoma
Mental Retardation
Spinal Injuries
Odontogenic Cysts
HTLV-I Infections
Pseudomonas Infections Infections with bacteria of the genus PSEUDOMONAS.
Costello Syndrome OMIM mapping confirmed by DO. [SN].
Hand Deformities, Congenital
Hepatic Vein Thrombosis
Hyperaldosteronism An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands.
Osteolysis Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium.
Blushing
Cerebral Amyloid Angiopathy An amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia.
Uterine Cervical Incompetence
Lymphocytosis Increase in the number or proportion of lymphocytes in the blood.
Pulmonary Edema
Reward
Intestinal Atresia
Binge-Eating Disorder
Mouth Neoplasms
Hypocalcemia An abnormally decreased calcium concentration in the blood.
Systemic Vasculitis
Retinal Neoplasms
Heartburn
Aortic Valve Stenosis An aortic valve disease that has_physical_basis_in incomplete opening of the aortic valve.
Convalescence
Space Perception
Basal Ganglia Hemorrhage
Leukemia, Lymphocytic, Acute, L1
Discrimination
Cryptococcosis An opportunistic mycosis that results_in fungal infection and has_material_basis_in Cryptococcus neoformans or Cryptococcus gattii.
Cecal Neoplasms
Corneal Opacity A reduction of corneal clarity.
Anorexia A lack or loss of appetite for food (as a medical condition).
Asphyxia
Hepatorenal Syndrome
Limb Deformities, Congenital
Liver Neoplasms, Experimental
Jejunal Neoplasms
Charcot-Marie-Tooth Disease
Sex Cord-Gonadal Stromal Tumors
Avoidance Learning
Radius Fractures
Radiculopathy
Psychotic Disorders
Heat Stroke
Malformations of Cortical Development
Alagille Syndrome A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts.
Placenta Diseases
Thyrotoxicosis A thyroid gland disease that is characterized by excess thyroid hormone.
Haemophilus Infections
Breast Neoplasms, Male
Speech Perception The process whereby an utterance is decoded into a representation in terms of linguistic units (sequences of phonetic segments which combine to form lexical and grammatical morphemes).
Neoplasms, Multiple Primary
Spina Bifida Cystica
Oligodendroglioma
Paget Disease, Extramammary
Myocardial Ischemia An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.
Cholangitis, Sclerosing
Heredodegenerative Disorders, Nervous System
Carcinoma, Transitional Cell
Alcohol Amnestic Disorder
Acquired Immunodeficiency Syndrome A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per µL of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS.
Sarcoma, Synovial
Neuroendocrine Tumors
Glomus Tumor A hemangiopericytic tumor that is a mesenchymal neoplasm composed of cells that closely resemble the modified smooth muscle cells of the normal glomus body.
Horse Diseases
Adenocarcinoma, Clear Cell
Myopia A refractive error characterized by the inability to see farther objects clearly.
Eye Infections, Fungal
Disease A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
Porphyrias
Hearing Loss, High-Frequency
Peripheral Arterial Disease
Thyroid Dysgenesis
Homocystinuria An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine.
Leukoaraiosis An abnormality of the cerebral white matter.
Communication Disorders
Constipation
Choledochal Cyst
Albinism, Ocular
Mevalonate Kinase Deficiency OMIM mapping confirmed by DO. [SN].
Lymphoma, Large-Cell, Anaplastic
Vaginal Neoplasms
Cholecystitis A cholangitis that is an inflammation of the gallbladder.
Hemolysis
Spinal Diseases
Nephrogenic Fibrosing Dermopathy Nephrogenic systemic fibrosis (NSF) is a rare systemic fibrosing condition observed in renally impaired patients and characterized by a hardening and thickening of the skin with fibrotic plaques or papules, pruritus, joint pain and stiffness, muscle weakness, limitation of range of motion, and yellowed eyes. It is generally associated with administration of gadolinium-based magnetic resonance imaging contrast agents (GBCA) in patients with kidney disease.
Protoporphyria, Erythropoietic
Immune Complex Diseases
Salivary Gland Diseases
Kyphosis Exaggerated anterior convexity of the thoracic vertebral column.
Leukemia, T-Cell, Acute
Glomerulonephritis, Membranous
Tongue Neoplasms
Glycogen Storage Disease Type III
Craniofacial Dysostosis A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene.
Epilepsy, Complex Partial
Angioid Streaks OMIM mapping confirmed by DO. [SN].
Carcinoma, Papillary, Follicular
Egg Hypersensitivity
Lymphoma, Lymphoblastic
Leukemia, Lymphocytic, Acute, L2
Supratentorial Neoplasms
Periodontal Attachment Loss
Ornithine Carbamoyltransferase Deficiency Disease
Psychoacoustics
Lymphoma, T-Cell
Penile Induration
Asthenia
Adenocarcinoma, Papillary
Orthostatic Intolerance
Shock, Cardiogenic
Still's Disease, Adult-Onset
Depressive Disorder A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure.
Leukemia, Myelogenous, Chronic, BCR-ABL Positive
Loeys-Dietz Syndrome
Foot Deformities, Congenital
Fascioliasis A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Fasciola hepatica or Fasciola gigantica. During the acute phase, manifestations include abdominal pain, hepatomegaly, fever, vomiting, diarrhea, urticaria and eosinophilia. Occasionally, infection occurs in intestinal wall, lungs, subcutaneous tissue, and pharyngeal mucosa.
Craniocerebral Trauma
Spastic Paraplegia, Hereditary
Lyme Disease A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia burgdorferi, which is transmitted_by blacklegged tick (Ixodes scapularis) or transmitted_by western blacklegged tick (Ixodes pacificus). The infection has_symptom fever, has_symptom headache, has_symptom fatigue, and has_symptom skin rash called erythema migrans. If left untreated, infection can spread to joints, the heart, and the nervous system.
Choroid Plexus Neoplasms
Infarction, Anterior Cerebral Artery
Orbital Diseases
Dystonia
Purpura, Schoenlein-Henoch
Idiopathic Interstitial Pneumonias
Cytochrome-c Oxidase Deficiency
Dental Calculus
Neurogenic Inflammation
Color Perception
Cardiomyopathy, Dilated
Hippel-Lindau Disease
Dental Caries
Thalamic Diseases
Uveitis, Anterior
Arthrogryposis Persistent flexure or contracture of a joint. (Dorland, 27th ed)
Myoclonic Epilepsy, Juvenile
Uterine Cervical Neoplasms
IgG Deficiency An abnormally decreased level of immunoglobulin IgG in blood.
Hypoalphalipoproteinemias
Polyendocrinopathies, Autoimmune
Myxoma
Hemorrhagic Disease of Newborn
Colonic Diseases, Functional
Macrophage Activation Syndrome
Pharyngeal Diseases
Xanthomatosis A lipid storage disease that is characterized by the desposition of yellowish cholesterol-rich material in tendons or other body parts.
Neutropenia
Endocrine Gland Neoplasms
Microscopic Polyangiitis Microscopic polyangiitis (MPA) is an inflammatory, necrotizing, systemic vasculitis that affects predominantly small vessels (i.e. small arteries, arterioles, capillaries, venules) in multiple organs.
Uremia
Gigantism
Personal Construct Theory
Sexual Dysfunctions, Psychological
Mesothelioma
Neoplasms, Complex and Mixed
Malocclusion, Angle Class I
Uterine Neoplasms
Hearing Loss, Sudden
Pneumonia, Ventilator-Associated
Venous Insufficiency A vein disease that is characterized by impaired flow of blood through the veins.
Pituitary Neoplasms
Male Urogenital Diseases
Spinal Fractures Broken bones in the vertebral column.
Hypopituitarism A pituitary gland disease characterized by the decreased secretion of one or more of the eight hormones normally produced by the pituitary gland.
Rupture, Spontaneous
Myasthenia Gravis OMIM mapping confirmed by DO. [SN].
TDP-43 Proteinopathies
Eosinophilia
Factor XI Deficiency OMIM mapping confirmed by DO. [SN].
Vitamin B Deficiency
Polycystic Kidney Diseases
Glomerulonephritis, Membranoproliferative
Colles' Fracture
Lymphoma, Large-Cell
Scalp Dermatoses
Retinal Perforations
Fallopian Tube Neoplasms
Cyclothymic Disorder A bipolar disorder that involves recurrent hypomanic and dysthymic episodes, but no full manic episodes or full major depressive episodes.
Leiomyosarcoma A malignant smooth muscle cancer that can arise almost anywhere in the body, but is most common in the uterus, abdomen, or pelvis.
Aggressive Periodontitis A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium.
Cues
Conditioning, Operant
Tic Disorders
Musculoskeletal Abnormalities
Intussusception OMIM mapping confirmed by DO. [SN].
Leptospirosis A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted_by contact with water, food, or soil containing urine from the infected animals. The infection has_symptom jaundice, has_symptom chills, has_symptom fever, has_symptom muscle pain, and has_symptom hepatomegaly.
Radiodermatitis
Flushing
Chromosomal Instability abnormalities of DNA metabolism, DNA repair, cell-cycle governance, or control of apoptosis that increase the probability that whole chromosomes or pieces of chromosomes are gained or lost during cell division, resulting in an imbalance in the number of chromosomes per cell (aneuploidy) and an enhanced rate of loss of heterozygosity
Fibrosis
Lithiasis
Siderosis
Adolescent Psychology
Arteriovenous Fistula
Steatorrhea
Sarcoma, Endometrial Stromal
Melanosis
Eye Infections, Viral
Pulmonary Heart Disease A congestive heart failure that involves a failure of the right side of the heart and is characterized by an enlargement of the right ventricle of the heart as a response to increased resistance or high blood pressure in the lungs.
Leukemia, Lymphocytic, Chronic
Tonsillitis An upper respiratory tract disease which involves inflammation of the tonsils resulting from bacterial (Group A streptococcus) and viral (Epstein-Barr virus, adenovirus) infections. Symptoms include a severe sore throat (which may be experienced as referred pain to the ears),